My Possible Genetic Indicators For Neurodivergence
Possible Genetic Indicators of my Neurodivergence
I used a free genetic analysis tool called Genetic Genic, and I uploaded my genome to it. I was very curious about rare genetic mutations. I also checked out my genome at sequencing.com
I am a multiracial neurodivergent with Dyslexia, Dyspraxia, and ADHD. I have history of being in special education in early elementary school years, but I started off in mainstream kindergarten. I was mistook for being intellectually handicapped and placed in special education with people with intellectual handicaps before being placed in a more appropriate special education classroom after being revealed to have above average intelligence. I had auditory therapy, speech therapy, phonics training, and motor skills therapy to correct my Dyslexic and Dyspraxic weaknesses. I wasn't medicated for ADHD. I was diagnosed as Inattentive Type ADHD back in 2003, but I feel that am actually a combined type because I do hyperactivity but it's kept in check. I think a lot of it had to do with being extremely conscientious to the point that I am afraid of getting in trouble. That had to do with being spanked a lot. I have history of sensory processing issues, and I read that it's very common in people that are neurodivergent. I have a highly sensitive nervous system which I have learned to take care of after learning about it from reading Elaine Aron's book, The Highly Sensitive Person.
There is a strong family history of Neurodivergence and High Sensitivity seems to run strong in my family. My mother is a neurodivergent that is highly sensitive, and my father was a neurodivergent that was highly sensitive. From what my mom told me, my father seemed to have been the more extreme neurodivergent. He had Dyslexic, Dyspraxic, ADHD, and Autistic traits.
My Neurodivergence Testing
https://neurodivergence.blogspot.com/2021/01/my-neurodivergence-testing.html
The Connection between my Overexcitabilities and Neurodivergence
https://neurodivergence.blogspot.com/2021/01/the-connection-between-my.html
Genetic Genie and my rare genetic mutations
https://neurodivergence.blogspot.com/2021/01/genetic-genie-and-my-rare-genetic.html
I looked at rare variants recorded by The genome Aggregation Database (gnomAD), TOPMed, and Allele Frequency Aggregator (ALFA)
rare is referring to a frequency of 0.01
17 rare DCDC2 variants - Chromosome 6
3 rare ZBTB20 variants - Chromosome 3
2 rare ATADB2 variants - Chromosome 2
1 rare IQSEC2 variant - X Chromosome
1 rare KIAA0319 variant - Chromosome 6
1 rare GLI3 variant - Chromsome 7
1 rare FOXP1 variants - Chromosome 3
1 rare NF1 variant - Chromosome 17
1 rare GRIN2B variant - Chromosome 11
1 rare SHANK2 variant - Chromosome 12
1 rare TTN variant - Chromosome 2
1 rare MC4R variant - Chromosome 18
I rare TMEM126A variant - Chromosome 11
genetic mutations that show on sequencing.com.
I am already well aware of some of them from checking out rare and uncommon genetic variants at Genetic Genie site.
DCDC2
Chromosome 6 24265051 DCDC2 rs1338760411 G/A
A=0.000004 (1/264690, TOPMED)
A=0.000007 (1/139508, GnomAD)
A=0.00000 (0/14050, ALFA)
https://www.ncbi.nlm.nih.gov/snp/rs1338760411
Chromosome 6 24291632 DCDC2 rs990262783 T/C
C=0.000264 (70/264690, TOPMED)
C=0.000164 (23/140152, GnomAD)
C=0.00014 (2/14050, ALFA)
https://www.ncbi.nlm.nih.gov/snp/rs990262783#frequency_tab
Chromosome 6 24337860 DCDC2 rs180690788 A/C
C=0.003918 (1037/264690, TOPMED)
C=0.003402 (476/139908, GnomAD)
C=0.00313 (44/14050, ALFA)
C=0.0038 (19/5008, 1000G)
https://www.ncbi.nlm.nih.gov/snp/rs180690788
Chromosome 6 24341030 DCDC2 rs138085258 C/T
T=0.004118 (1090/264690, TOPMED)
T=0.003638 (510/140172, GnomAD)
T=0.00347 (50/14420, ALFA)
T=0.0040 (20/5008, 1000G)
T=0.0003 (1/3854, ALSPAC)
T=0.0003 (1/3708, TWINSUK)
https://www.ncbi.nlm.nih.gov/snp/rs138085258
Chromosome 6 24218333 DCDC2 rs115116117 C/T
T=0.00058 (11/18902, ALFA)
A=0.00036 (6/16760, 8.3KJPN)
T=0.0080 (40/5008, 1000G)
T=0.0009 (4/4480, Estonian)
T=0.0119 (46/3854, ALSPAC)
T=0.0094 (35/3708, TWINSUK)
A=0.0010 (3/2922, KOREAN)
T=0.005 (5/998, GoNL)
T=0.007 (4/600, NorthernSweden)
C=0.5 (2/4, SGDP_PRJ)
T=0.5 (2/4, SGDP_PRJ
https://www.ncbi.nlm.nih.gov/snp/rs115116117
Chromosome 6 24235926 DCDC2 rs77861199 T/C
C=0.009613 (1348/140232, GnomAD)
C=0.00283 (53/18714, ALFA)
C=0.0086 (43/5008, 1000G)
C=0.0009 (4/4480, Estonian)
C=0.0114 (44/3854, ALSPAC)
C=0.0092 (34/3708, TWINSUK)
C=0.005 (5/998, GoNL)
C=0.007 (4/600, NorthernSweden)
T=0.5 (2/4, SGDP_PRJ)
C=0.5 (2/4, SGDP_PRJ)
https://www.ncbi.nlm.nih.gov/snp/rs77861199
Chromosome 6 24248231 DCDC2 rs184157782 G/T
T=0.00038 (7/18624, ALFA)
T=0.0086 (43/5008, 1000G)
T=0.0009 (4/4480, Estonian)
T=0.0119 (46/3854, ALSPAC)
T=0.0092 (34/3708, TWINSUK)
T=0.005 (5/998, GoNL)
T=0.007 (4/600, NorthernSweden)
G=0.5 (2/4, SGDP_PRJ)
T=0.5 (2/4, SGDP_PRJ)
https://www.ncbi.nlm.nih.gov/snp/rs184157782
Chromosome 6 24253226 DCDC2 rs139531869 A/G
G=0.009944 (2632/264690, TOPMED)
G=0.008700 (1220/140226, GnomAD)
G=0.00709 (134/18890, ALFA)
G=0.0074 (37/5008, 1000G)
G=0.0009 (4/4480, Estonian)
G=0.0119 (46/3854, ALSPAC)
G=0.0092 (34/3708, TWINSUK)
G=0.005 (5/998, GoNL)
G=0.007 (4/600, NorthernSweden)
A=0.5 (1/2, SGDP_PRJ)
G=0.5 (1/2, SGDP_PRJ)
https://www.ncbi.nlm.nih.gov/snp/rs139531869
Chromosome 6 24253227 DCDC2 rs144134994 T/C
C=0.009940 (2631/264690, TOPMED)
C=0.008717 (1220/139950, GnomAD)
C=0.00709 (134/18890, ALFA)
C=0.0074 (37/5008, 1000G)
C=0.0009 (4/4480, Estonian)
C=0.0119 (46/3854, ALSPAC)
C=0.0092 (34/3708, TWINSUK)
C=0.005 (5/998, GoNL)
C=0.007 (4/600, NorthernSweden)
T=0.5 (1/2, SGDP_PRJ)
C=0.5 (1/2, SGDP_PRJ)
https://www.ncbi.nlm.nih.gov/snp/rs144134994
Chromosome 6 24254899 DCDC2 rs568728333 T/C
C=0.002093 (554/264690, TOPMED)
C=0.00049 (7/14382, ALFA)
C=0.0012 (6/5008, 1000G)
T=0.5 (1/2, SGDP_PRJ)
C=0.5 (1/2, SGDP_PRJ)
https://sequencing.com/dna-apps/genome-explorer/5616620
Chromosome 6 24255005 DCDC2 rs75329364 T/A
A=0.009936 (2630/264690, TOPMED)
A=0.008675 (1216/140170, GnomAD)
A=0.00272 (51/18726, ALFA)
A=0.0074 (37/5008, 1000G)
A=0.0009 (4/4480, Estonian)
A=0.0119 (46/3854, ALSPAC)
A=0.0092 (34/3708, TWINSUK)
A=0.005 (5/998, GoNL)
A=0.007 (4/600, NorthernSweden)
T=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)
https://www.ncbi.nlm.nih.gov/snp/rs75329364
Chromosome 6 24255386 DCDC2 rs78518746 C/T
T=0.009921 (2626/264690, TOPMED)
T=0.008682 (1216/140056, GnomAD)
T=0.00714 (137/19190, ALFA)
T=0.0074 (37/5008, 1000G)
T=0.0009 (4/4480, Estonian)
T=0.0119 (46/3854, ALSPAC)
T=0.0092 (34/3708, TWINSUK)
T=0.005 (5/998, GoNL)
T=0.007 (4/600, NorthernSweden)
C=0.5 (1/2, SGDP_PRJ)
T=0.5 (1/2, SGDP_PRJ)
https://www.ncbi.nlm.nih.gov/snp/rs78518746
Chromosome 6 24256293 DCDC2 rs4305716 A/G
G=0.00289 (55/19022, ALFA)
G=0.0076 (38/5008, 1000G)
G=0.0009 (4/4480, Estonian)
G=0.0122 (47/3854, ALSPAC)
G=0.0102 (38/3708, TWINSUK)
G=0.007 (7/998, GoNL)
G=0.007 (4/600, NorthernSweden)
G=0.009 (3/328, HapMap)
A=0.5 (1/2, SGDP_PRJ)
G=0.5 (1/2, SGDP_PRJ)
https://www.ncbi.nlm.nih.gov/snp/rs4305716
Chromosome 6 24256386 DCDC2 rs4631272 A/T
T=0.009936 (2630/264690, TOPMED)
T=0.008699 (1220/140244, GnomAD)
T=0.00709 (134/18890, ALFA)
T=0.0074 (37/5008, 1000G)
T=0.0009 (4/4480, Estonian)
T=0.0119 (46/3854, ALSPAC)
T=0.0092 (34/3708, TWINSUK)
T=0.007 (4/600, NorthernSweden)
A=0.5 (1/2, SGDP_PRJ)
T=0.5 (1/2, SGDP_PRJ)
https://www.ncbi.nlm.nih.gov/snp/rs4631272
Chromosome 6 24266393 DCDC2 rs116613296 C/T
T=0.009944 (2632/264690, TOPMED)
T=0.008713 (1220/140016, GnomAD)
T=0.00709 (134/18890, ALFA)
T=0.0072 (36/5008, 1000G)
T=0.0009 (4/4480, Estonian)
T=0.0119 (46/3854, ALSPAC)
T=0.0092 (34/3708, TWINSUK)
T=0.005 (5/998, GoNL)
T=0.007 (4/600, NorthernSweden)
C=0.5 (1/2, SGDP_PRJ)
T=0.5 (1/2, SGDP_PRJ)
https://www.ncbi.nlm.nih.gov/snp/rs116613296
Chromosome 6 24266699 DCDC2 rs188356125 G/A
A=0.001677 (444/264690, TOPMED)
A=0.001652 (231/139814, GnomAD)
A=0.00185 (35/18890, ALFA)
A=0.0010 (5/5008, 1000G)
A=0.0004 (2/4480, Estonian)
A=0.0029 (11/3854, ALSPAC)
A=0.0035 (13/3708, TWINSUK)
A=0.003 (3/998, GoNL)
A=0.002 (1/600, NorthernSweden)
https://www.ncbi.nlm.nih.gov/snp/rs188356125
Chromosome 6 24271456 DCDC2 rs1226568693 G/A
A=0.01190 (199/16728, 8.3KJPN)
A=0.00051 (6/11862, ALFA)
A=0.0209 (61/2916, KOREAN)
https://www.ncbi.nlm.nih.gov/snp/rs1226568693
Entrez Gene Summary for DCDC2 Gene
This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]
Gene Ontology (GO) - Biological Process for DCDC2 Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 involved_in neuron migration IEA,NAS 16278297
GO:0006968 involved_in cellular defense response TAS 10601354
GO:0007399 nervous system development IEA
GO:0007605 involved_in sensory perception of sound IEA,IMP 25601850
GO:0030030 cell projection organization IEA
GO:0030111 involved_in regulation of Wnt signaling pathway IEA,IMP 25557784
GO:0035556 involved_in intracellular signal transduction IEA
GO:0045880 involved_in positive regulation of smoothened signaling pathway IMP 21698230
GO:0048813 involved_in dendrite morphogenesis IBA 21873635
GO:0060271 involved_in cilium assembly IBA,IMP 27319779
GO:1902017 involved_in regulation of cilium assembly IEA,IMP 25601850
https://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC2&keywords=dcdc2
ZBT20
Chromosome 3 114147410 ZBTB20 rs1187352044 C/T
T=0.000008 (2/264690, TOPMED)
T=0.000007 (1/140186, GnomAD)
T=0.00000 (0/14050, ALFA)
https://www.ncbi.nlm.nih.gov/snp/rs1187352044
Chromosome 3 114184552 ZBT20 rs1281738553 T/C
C=0.000014 (2/138598, GnomAD)
C=0.00007 (1/14050, ALFA)
https://www.ncbi.nlm.nih.gov/snp/rs1281738553
Chromosome 3 114163173 ZBT20 rs543694232 G/A
A=0.000484 (128/264690, TOPMED)
A=0.000478 (67/140180, GnomAD)
A=0.00050 (7/14050, ALFA)
A=0.0008 (4/5008, 1000G)
https://www.ncbi.nlm.nih.gov/snp/rs543694232
Entrez Gene Summary for ZBTB20 Gene
This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
Gene Ontology (GO) - Biological Process for ZBTB20 Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 involved_in negative regulation of transcription by RNA polymerase II IEA
GO:0006357 involved_in regulation of transcription by RNA polymerase II IBA 21873635
GO:0010629 involved_in negative regulation of gene expression IEA
GO:0032728 involved_in positive regulation of interferon-beta production IEA
GO:0032755 involved_in positive regulation of interleukin-6 production IEA
GO:0032760 involved_in positive regulation of tumor necrosis factor production IEA
GO:0045821 involved_in positive regulation of glycolytic process ISS
GO:0045892 involved in negative regulation of transcription, DNA-templated IEA
GO:0046889 involved_in positive regulation of lipid biosynthetic process ISS
GO:0055088 involved_in lipid homeostasis ISS
GO:0071333 involved_in cellular response to glucose stimulus ISS
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB20&keywords=ZBT20
Chromosome X 53280138 IQSEC2 rs376149648 T
T=0.000057 (15/264690, TOPMED)
T=0.000011 (2/180268, GnomAD_exome)
T=0.000010 (1/104706, GnomAD)
T=0.00001 (1/85025, ExAC)
T=0.00000 (0/14050, ALFA)
T=0.00009 (1/10557, GO-ESP)
https://www.ncbi.nlm.nih.gov/snp/rs376149648
Entrez Gene Summary for IQSEC2 Gene
This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
Gene Ontology (GO) - Biological Process for IQSEC2 Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0030036 involved_in actin cytoskeleton organization IBA 21873635
GO:0032012 involved_in regulation of ARF protein signal transduction IEA
GO:0050790 involved_in regulation of catalytic activity IEA
GO:0050804 involved_in modulation of chemical synaptic transmission IMP 27009485
GO:0098696 involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IMP 27009485
https://www.genecards.org/cgi-bin/carddisp.pl?gene=IQSEC2&keywords=IQSEC2
NF1
Chromosome 17 29677344 NF1 rs376147282 G/T
T=0.000034 (9/264690, TOPMED)
T=0.000016 (4/250590, GnomAD_exome)
T=0.000021 (3/140202, GnomAD)
T=0.000033 (4/121246, ExAC)
T=0.00006 (2/35358, ALFA)
T=0.00008 (1/13006, GO-ESP)
https://www.ncbi.nlm.nih.gov/snp/rs376147282
Entrez Gene Summary for NF1 Gene
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
Gene Ontology (GO) - Biological Process for NF1 Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 involved_in MAPK cascade IEA,ISS
GO:0001649 involved_in osteoblast differentiation IEA,ISS
GO:0001656 involved_in metanephros development IEA,ISS
GO:0001666 involved_in response to hypoxia IEA,ISS
GO:0001889 involved_in liver development IEA,ISS
GO:0001937 involved_in negative regulation of endothelial cell proliferation IEA,IMP 17404841
GO:0001938 involved_in positive regulation of endothelial cell proliferation IEA
GO:0001952 involved_in regulation of cell-matrix adhesion IEA,ISS
GO:0001953 involved_in negative regulation of cell-matrix adhesion IEA
GO:0006469 involved_in negative regulation of protein kinase activity IEA,ISS
GO:0007154 involved_in cell communication IEA,ISS
GO:0007165 signal transduction IEA
GO:0007265 involved_in Ras protein signal transduction IEA,ISS
GO:0007406 involved_in negative regulation of neuroblast proliferation IEA,ISS
GO:0007420 involved_in brain development IEA,ISS
GO:0007422 involved_in peripheral nervous system development IEA,ISS
GO:0007507 involved_in heart development IEA,ISS
GO:0007519 involved_in skeletal muscle tissue development IEA
GO:0008285 negative regulation of cell population proliferation IEA
GO:0008542 involved_in visual learning IEA,ISS
GO:0008625 involved_in extrinsic apoptotic signaling pathway via death domain receptors IEA
GO:0010468 involved_in regulation of gene expression IEA
GO:0014044 involved_in Schwann cell development IEA,ISS
GO:0014065 involved_in phosphatidylinositol 3-kinase signaling IEA,ISS
GO:0016525 involved_in negative regulation of angiogenesis IEA
GO:0021510 involved_in spinal cord development IEA,ISS
GO:0021764 involved_in amygdala development IEA
GO:0021897 involved_in forebrain astrocyte development IEA,ISS
GO:0021915 involved_in neural tube development IEA
GO:0021987 involved_in cerebral cortex development IEA,ISS
GO:0022011 involved_in myelination in peripheral nervous system IEA,ISS
GO:0030036 involved_in actin cytoskeleton organization IEA,ISS
GO:0030198 involved_in extracellular matrix organization IEA,ISS
GO:0030199 involved_in collagen fibril organization IEA,ISS
GO:0030325 involved_in adrenal gland development IEA,ISS
GO:0030336 acts_upstream_of_or_within negative regulation of cell migration IEA,IMP 16648142
GO:0030948 negative regulation of vascular endothelial growth factor receptor signaling pathway IEA
GO:0032228 involved_in regulation of synaptic transmission, GABAergic IEA
GO:0034605 involved_in cellular response to heat IEA
GO:0035021 involved_in negative regulation of Rac protein signal transduction IEA
GO:0038026 reelin-mediated signaling pathway IEA
GO:0042060 involved_in wound healing IEA,ISS
GO:0042127 regulation of cell population proliferation IEA
GO:0042308 involved_in negative regulation of protein import into nucleus IEA
GO:0043065 involved_in positive regulation of apoptotic process IEA,ISS
GO:0043087 involved_in regulation of GTPase activity IEA,IMP 1570015
GO:0043407 involved_in negative regulation of MAP kinase activity IEA,ISS
GO:0043408 regulation of MAPK cascade IEA
GO:0043409 involved_in negative regulation of MAPK cascade IEA,ISS
GO:0043473 involved_in pigmentation IEA,ISS
GO:0043525 involved_in positive regulation of neuron apoptotic process IEA,ISS
GO:0043535 involved_in regulation of blood vessel endothelial cell migration IMP 17404841
GO:0043547 involved_in positive regulation of GTPase activity IEA,ISS
GO:0045124 involved_in regulation of bone resorption IEA,ISS
GO:0045671 involved_in negative regulation of osteoclast differentiation IEA
GO:0045685 involved_in regulation of glial cell differentiation IEA,ISS
GO:0045762 involved_in positive regulation of adenylate cyclase activity IEA,ISS
GO:0045765 involved_in regulation of angiogenesis IMP 17404841
GO:0046580 negative regulation of Ras protein signal transduction IEA
GO:0046929 involved_in negative regulation of neurotransmitter secretion IEA
GO:0048147 involved_in negative regulation of fibroblast proliferation IEA,ISS
GO:0048169 involved_in regulation of long-term neuronal synaptic plasticity IEA
GO:0048485 involved_in sympathetic nervous system development IEA,ISS
GO:0048593 involved_in camera-type eye morphogenesis IEA,ISS
GO:0048712 involved_in negative regulation of astrocyte differentiation IEA
GO:0048715 involved_in negative regulation of oligodendrocyte differentiation IEA,ISS
GO:0048745 involved_in smooth muscle tissue development IEA,ISS
GO:0048820 involved_in hair follicle maturation IEA
GO:0048844 involved_in artery morphogenesis IEA,ISS
GO:0048853 involved_in forebrain morphogenesis IEA,ISS
GO:0050890 involved_in cognition IMP 17299016
GO:0061534 involved_in gamma-aminobutyric acid secretion, neurotransmission IEA
GO:0061535 involved_in glutamate secretion, neurotransmission IEA
GO:0098597 involved_in observational learning IEA
GO:1900271 involved_in regulation of long-term synaptic potentiation IEA
GO:1902531 regulation of intracellular signal transduction IEA
GO:2001241 involved_in positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NF1&keywords=NF1
GLI3
7 42005552 GLI3 rs376477553 T/A
A=0.000030 (8/264690, TOPMED)
A=0.000024 (6/246508, GnomAD_exome)
A=0.000036 (5/140150, GnomAD)
A=0.000026 (3/117162, ExAC)
A=0.00007 (1/14050, ALFA)
A=0.00008 (1/13006, GO-ESP)
https://www.ncbi.nlm.nih.gov/snp/rs376477553
Entrez Gene Summary for GLI3 Gene
This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
Gene Ontology (GO) - Biological Process for GLI3 Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 involved_in negative regulation of transcription by RNA polymerase II IDA 12435627
GO:0001656 involved_in metanephros development IEA
GO:0001658 involved_in branching involved in ureteric bud morphogenesis IEA
GO:0001701 involved_in in utero embryonic development IEA
GO:0001822 kidney development IEA
GO:0002052 involved_in positive regulation of neuroblast proliferation IEA
GO:0006355 regulation of transcription, DNA-templated IEA
GO:0006357 involved_in regulation of transcription by RNA polymerase II IEA,IBA 21873635
GO:0007224 involved_in smoothened signaling pathway IEA,TAS 11001584
GO:0007389 pattern specification process IEA
GO:0007411 involved_in axon guidance IEA
GO:0007417 central nervous system development IEA
GO:0007420 brain development IEA
GO:0007442 involved_in hindgut morphogenesis IEA
GO:0007507 involved_in heart development IEA
GO:0008285 involved_in negative regulation of cell population proliferation IEA
GO:0009952 involved_in anterior/posterior pattern specification IEA
GO:0009953 dorsal/ventral pattern formation IEA
GO:0009954 involved_in proximal/distal pattern formation IEA
GO:0010468 regulation of gene expression IEA
GO:0016485 involved_in protein processing IEA
GO:0021513 spinal cord dorsal/ventral patterning IEA
GO:0021522 spinal cord motor neuron differentiation IEA
GO:0021537 telencephalon development IEA
GO:0021543 pallium development IEA
GO:0021544 subpallium development IEA
GO:0021631 involved_in optic nerve morphogenesis IEA
GO:0021766 involved_in hippocampus development IEA
GO:0021775 involved_in smoothened signaling pathway involved in ventral spinal cord interneuron specification IEA
GO:0021776 involved_in smoothened signaling pathway involved in spinal cord motor neuron cell fate specification IEA
GO:0021798 involved_in forebrain dorsal/ventral pattern formation IEA
GO:0021801 cerebral cortex radial glia-guided migration IEA
GO:0021819 involved_in layer formation in cerebral cortex IEA
GO:0021861 involved_in forebrain radial glial cell differentiation IEA
GO:0021915 neural tube development IEA
GO:0022018 involved_in lateral ganglionic eminence cell proliferation IEA
GO:0030318 involved_in melanocyte differentiation IEA
GO:0030324 involved_in lung development IEA
GO:0030326 embryonic limb morphogenesis IEA
GO:0030850 involved_in prostate gland development IEA
GO:0030879 mammary gland development IEA
GO:0030900 forebrain development IEA
GO:0032332 involved_in positive regulation of chondrocyte differentiation IEA
GO:0033077 involved_in T cell differentiation in thymus ISS
GO:0035108 involved_in limb morphogenesis IMP 9354785
GO:0035295 tube development IEA
GO:0042060 involved_in wound healing IEA
GO:0042127 regulation of cell population proliferation IEA
GO:0042307 involved_in positive regulation of protein import into nucleus IEA
GO:0042475 involved_in odontogenesis of dentin-containing tooth IEA
GO:0042733 involved_in embryonic digit morphogenesis TAS 11001584
GO:0042981 regulation of apoptotic process IEA
GO:0043010 camera-type eye development IEA
GO:0043066 involved_in negative regulation of apoptotic process IEA
GO:0043585 involved_in nose morphogenesis TAS 11001584
GO:0043586 involved_in tongue development IEA
GO:0043627 involved_in response to estrogen IEA
GO:0045060 involved_in negative thymic T cell selection ISS
GO:0045595 regulation of cell differentiation IEA
GO:0045596 negative regulation of cell differentiation IEA
GO:0045665 involved_in negative regulation of neuron differentiation IEA
GO:0045669 involved_in positive regulation of osteoblast differentiation IEA
GO:0045879 involved_in negative regulation of smoothened signaling pathway ISS
GO:0045892 involved_in negative regulation of transcription, DNA-templated IDA 12435627
GO:0045893 involved_in positive regulation of transcription, DNA-templated ISS
GO:0045944 involved_in positive regulation of transcription by RNA polymerase II IMP 18559511
GO:0046638 involved_in positive regulation of alpha-beta T cell differentiation ISS
GO:0046639 involved_in negative regulation of alpha-beta T cell differentiation ISS
GO:0048557 involved_in embryonic digestive tract morphogenesis IEA
GO:0048566 involved_in embryonic digestive tract development TAS 11001584
GO:0048568 embryonic organ development IEA
GO:0048589 involved_in developmental growth IEA
GO:0048593 involved_in camera-type eye morphogenesis IEA
GO:0048598 embryonic morphogenesis IEA
GO:0048646 anatomical structure formation involved in morphogenesis IEA
GO:0048663 neuron fate commitment IEA
GO:0048702 involved_in embryonic neurocranium morphogenesis IEA
GO:0048704 embryonic skeletal system morphogenesis IEA
GO:0048709 involved_in oligodendrocyte differentiation IEA
GO:0048754 branching morphogenesis of an epithelial tube IEA
GO:0048839 inner ear development IEA
GO:0048856 anatomical structure development IEA
GO:0060021 involved_in roof of mouth development IEA
GO:0060173 limb development IEA
GO:0060364 involved_in frontal suture morphogenesis IEA
GO:0060366 involved_in lambdoid suture morphogenesis IEA
GO:0060367 involved_in sagittal suture morphogenesis IEA
GO:0060594 involved_in mammary gland specification IEA
GO:0060831 involved_in smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
GO:0060840 involved_in artery development IEA
GO:0060873 involved_in anterior semicircular canal development IEA
GO:0060875 involved_in lateral semicircular canal development IEA
GO:0061005 involved_in cell differentiation involved in kidney development IEA
GO:0070242 involved_in thymocyte apoptotic process ISS
GO:0071625 involved_in vocalization behavior IEA
GO:0090090 involved_in negative regulation of canonical Wnt signaling pathway IDA 17331723
GO:0097421 involved_in liver regeneration IEA
GO:0120223 involved_in larynx morphogenesis IEA
GO:1901620 involved_in regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
GO:1903010 involved_in regulation of bone development IEA
GO:1990787 involved_in negative regulation of hh target transcription factor activity
https://www.genecards.org/cgi-bin/carddisp.pl?gene=GLI3&keywords=GLI3
FOXP1
Chromosome 3 71090493 FOXP1 rs141007926 A/C
C=0.000261 (69/264690, TOPMED)
C=0.000040 (10/250880, GnomAD_exome)
C=0.000286 (40/140004, GnomAD)
C=0.000033 (4/121106, ExAC)
C=0.00007 (1/14050, ALFA)
C=0.00015 (2/13006, GO-ESP)
https://www.ncbi.nlm.nih.gov/snp/rs141007926
Entrez Gene Summary for FOXP1 Gene
This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Ontology (GO) - Biological Process for FOXP1 Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 involved_in negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0002903 involved_in negative regulation of B cell apoptotic process IDA 25267198
GO:0006355 regulation of transcription, DNA-templated IEA
GO:0006357 involved_in regulation of transcription by RNA polymerase II IBA 21873635
GO:0006974 involved_in cellular response to DNA damage stimulus IMP 30111844
GO:0010468 involved_in regulation of gene expression IMP 28218735
GO:0010595 involved_in positive regulation of endothelial cell migration IMP 24023716
GO:0010629 involved_in negative regulation of gene expression IDA 30111844
GO:0030316 involved_in osteoclast differentiation IDA 18799727
GO:0032496 involved_in response to lipopolysaccharide IDA 18799727
GO:0032651 involved_in regulation of interleukin-1 beta production IDA 18799727
GO:0032655 involved_in regulation of interleukin-12 production IDA 18799727
GO:0032680 involved_in regulation of tumor necrosis factor production IDA 18799727
GO:0032745 involved_in positive regulation of interleukin-21 production ISS
GO:0036035 involved_in osteoclast development IDA 18799727
GO:0042116 involved_in macrophage activation IDA 18799727
GO:0042117 involved_in monocyte activation IDA 18799727
GO:0042118 involved_in endothelial cell activation IMP 24023716
GO:0045655 involved_in regulation of monocyte differentiation IDA 15286807
GO:0045892 involved_in negative regulation of transcription, DNA-templated IMP 26647308
GO:0048513 animal organ development IEA
GO:0048661 involved_in positive regulation of smooth muscle cell proliferation IMP 24023716
GO:0050727 involved_in regulation of inflammatory response IDA 18799727
GO:0050861 involved_in positive regulation of B cell receptor signaling pathway IMP 30111844
GO:0060766 involved_in negative regulation of androgen receptor signaling pathway IDA 18640093
GO:0061470 involved_in T follicular helper cell differentiation ISS
GO:1900424 involved_in regulation of defense response to bacterium IDA 18799727
GO:1901256 involved_in regulation of macrophage colony-stimulating factor production IDA 18799727
GO:1901509 involved_in regulation of endothelial tube morphogenesis IMP 24023716
GO:2000341 involved_in regulation of chemokine (C-X-C motif) ligand 2 production IDA 18799727
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXP1&keywords=foxp1
KIAA0319
Chromosome 6 24642404 KIAA0319 rs980953150 G/C
C=0.00006 (4/66634, GnomAD)
C=0.00000 (0/11862, ALFA)
https://www.ncbi.nlm.nih.gov/snp/rs980953150
Entrez Gene Summary for KIAA0319 Gene
This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Gene Ontology (GO) - Biological Process for KIAA0319 Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 involved_in neuron migration IGI 19679544
GO:0007399 nervous system development IEA
GO:0010996 involved_in response to auditory stimulus IEA
GO:0030517 acts_upstream_of_or_within negative regulation of axon extension IMP 28334068
GO:0033555 involved_in multicellular organismal response to stress IEA
GO:0048692 acts_upstream_of_or_within negative regulation of axon extension involved in regeneration IEA,IMP 28334068
GO:0060391 acts_upstream_of_or_within positive regulation of SMAD protein signal transduction IMP 28334068
GO:2000171 involved_in negative regulation of dendrite development IBA,IGI 19679544
https://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319&keywords=kiaa0319
GRIN2B
Chromosome 12 14019170 GRIN2B rs146841522 C/G
G=0.000625 (146/233636, GnomAD_exome)
G=0.002148 (301/140156, GnomAD)
G=0.000730 (83/113658, ExAC)
G=0.00017 (4/23378, ALFA)
G=0.00269 (35/12994, GO-ESP)
G=0.0042 (21/5008, 1000G)
G=0.014 (3/216, Qatari)
https://www.ncbi.nlm.nih.gov/snp/rs146841522
Entrez Gene Summary for GRIN2B Gene
This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]
Gene Ontology (GO) - Biological Process for GRIN2B Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA
GO:0007215 involved_in glutamate receptor signaling pathway TAS 8768735
GO:0007268 involved_in chemical synaptic transmission TAS 10485705
GO:0007420 involved_in brain development NAS 17526495
GO:0007611 involved_in learning or memory ISS
GO:0019722 involved_in calcium-mediated signaling IEA
GO:0035235 involved_in ionotropic glutamate receptor signaling pathway IEA,IC
GO:0045471 involved_in response to ethanol IDA 18445116
GO:0048167 involved_in regulation of synaptic plasticity NAS 17526495
GO:0048168 involved_in regulation of neuronal synaptic plasticity IC 15003177
GO:0051290 involved_in protein heterotetramerization ISS
GO:0051968 involved_in positive regulation of synaptic transmission, glutamatergic IC
GO:0060079 involved_in excitatory postsynaptic potential IBA 21873635
GO:0060291 involved_in long-term synaptic potentiation IBA 21873635
GO:0097553 involved_in calcium ion transmembrane import into cytosol IMP 27839871
GO:0098655 involved_in cation transmembrane transport IC
GO:0098976 involved_in excitatory chemical synaptic transmission NAS 17526495
GO:1901216 involved_in positive regulation of neuron death ISS
GO:1902951 involved_in negative regulation of dendritic spine maintenance ISS
GO:1904062 involved_in regulation of cation transmembrane transport IC
GO:2000463 involved_in positive regulation of excitatory postsynaptic potential IC
GO:2001056 involved_in positive regulation of cysteine-type endopeptidase activity ISS 17526495
https://www.genecards.org/cgi-bin/carddisp.pl?gene=GRIN2B&keywords=GRIN2B
SHANK2
Chromosome 11 70858151 SHANK2 rs77851214 G/A
A=0.008927 (2363/264690, TOPMED)
A=0.001768 (261/147596, GnomAD_exome)
A=0.009077 (1273/140246, GnomAD)
A=0.00436 (102/23408, ALFA)
A=0.00445 (61/13704, ExAC)
A=0.0080 (40/5008, 1000G)
A=0.0081 (37/4566, GO-ESP)
A=0.009 (2/216, Qatari)
A=0.00 (0/84, Ancient Sardinia)
G=0.50 (7/14, SGDP_PRJ)
A=0.50 (7/14, SGDP_PRJ)
https://www.ncbi.nlm.nih.gov/snp/rs77851214
Entrez Gene Summary for SHANK2 Gene
This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Gene Ontology (GO) - Biological Process for SHANK2 Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0007416 involved_in synapse assembly ISS 22699620
GO:0007420 involved_in brain development IEA
GO:0007584 involved_in response to nutrient IEA
GO:0007612 involved_in learning IMP 20473310
GO:0008284 involved_in positive regulation of cell population proliferation IMP 32661924
GO:0008306 involved_in associative learning IEA
GO:0008344 involved_in adult locomotory behavior IEA
GO:0009410 involved_in response to xenobiotic stimulus IEA
GO:0030534 involved_in adult behavior IMP 20473310
GO:0035176 involved_in social behavior IMP 20473310
GO:0035331 involved_in negative regulation of hippo signaling IMP 32661924
GO:0050807 involved_in regulation of synapse organization IEA
GO:0060291 involved_in long-term synaptic potentiation ISS 22699620
GO:0060292 involved_in long-term synaptic depression ISS 22699620
GO:0071625 involved_in vocalization behavior IMP 20473310
GO:0099562 involved_in maintenance of postsynaptic density structure IEA
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SHANK2&keywords=SHANK2
I also checked out rare variants with a frequency of less than 0.001
ATAD2B
Chromosome 2 24133043 ATAD2B rs1370314456 C/T
G=0.000004 (1/264690, TOPMED)
A=0.00002 (2/98604, GnomAD)
G=0.00024 (4/16738, 8.3KJPN) (- 4 less)
A=0.00000 (0/11862, ALFA)
G=0.00000 (0/11862, ALFA)
T=0.00000 (0/11862, ALFA)
G=0.0007 (2/2918, KOREAN)
https://www.ncbi.nlm.nih.gov/snp/rs1370314456
Chromosome 2 24108842 ATAD2B rs893649963 T/C
C=0.000015 (4/264690, TOPMED)
C=0.000021 (3/140112, GnomAD)
C=0.00000 (0/14050, ALFA)
https://www.ncbi.nlm.nih.gov/snp/rs893649963
Entrez Gene Summary for ATAD2B Gene
The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Gene Ontology (GO) - Biological Process for ATAD2B Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0031936 obsolete negative regulation of chromatin silencing IBA
GO:0045944 involved_in positive regulation of transcription by RNA polymerase II IBA 21873635
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD2B&keywords=ATAD2B
TTN
Chromosome 2 179629415 TTN rs377049518 T/C
C=0.000042 (11/264690, TOPMED)
C=0.000016 (4/250980, GnomAD_exome)
C=0.000036 (5/140242, GnomAD) (- 3 less)
C=0.000033 (4/121354, ExAC)
C=0.00007 (1/14050, ALFA)
C=0.00008 (1/13006, GO-ESP)
https://www.ncbi.nlm.nih.gov/snp/rs377049518
Entrez Gene Summary for TTN Gene
This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]
Gene Ontology (GO) - Biological Process for TTN Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0003300 involved_in cardiac muscle hypertrophy IMP 11846417
GO:0006468 protein phosphorylation IEA
GO:0006936 involved_in muscle contraction TAS 11911777
GO:0006941 involved_in striated muscle contraction TAS 7569978
GO:0007076 involved_in mitotic chromosome condensation IEP 9548712
GO:0009987 cellular process IEA
GO:0010628 involved_in positive regulation of gene expression IMP 25152160
GO:0010737 involved_in protein kinase A signaling IMP 25152160
GO:0016310 phosphorylation IEA
GO:0018108 involved_in peptidyl-tyrosine phosphorylation IEA
GO:0030240 involved_in skeletal muscle thin filament assembly IMP 9817758
GO:0030241 involved_in skeletal muscle myosin thick filament assembly IMP 9817758
GO:0035995 involved_in detection of muscle stretch IDA,TAS 12507422
GO:0045214 involved_in sarcomere organization IMP 9817758
GO:0045859 involved_in regulation of protein kinase activity IMP 9804419
GO:0048769 involved_in sarcomerogenesis IMP 9817758
GO:0050714 involved_in positive regulation of protein secretion IMP 25152160
GO:0050790 involved_in regulation of catalytic activity IMP 9804419
GO:0051592 involved_in response to calcium ion IDA 7607248
GO:0055003 involved_in cardiac myofibril assembly IMP 9817758
GO:0055008 involved_in cardiac muscle tissue morphogenesis IMP 9817758
GO:0055013 involved_in cardiac muscle cell development IMP 9817758
GO:0060048 involved_in cardiac muscle contraction IMP 11846417
https://www.genecards.org/cgi-bin/carddisp.pl?gene=TTN&keywords=TTN
MC4R
Chromosome 18 58038687 MC4R rs52804924 G/T
T=0.000102 (27/264690, TOPMED)
T=0.000008 (2/251394, GnomAD_exome)
T=0.000043 (6/140212, GnomAD)
T=0.000008 (1/121404, ExAC)
T=0.000048 (5/103556, ALFA)
T=0.00014 (11/78700, PAGE_STUDY)
T=0.00008 (1/13006, GO-ESP)
T=0.0021 (7/3298, PRJNA289433)
https://www.ncbi.nlm.nih.gov/snp/rs52804924
Entrez Gene Summary for MC4R Gene
The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]
Gene Ontology (GO) - Biological Process for MC4R Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0002024 involved_in diet induced thermogenesis IEA
GO:0006112 involved_in energy reserve metabolic process IEA
GO:0007165 signal transduction IEA
GO:0007186 G protein-coupled receptor signaling pathway IEA
GO:0007188 involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway TAS 8794897
GO:0007189 involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA 19329486
GO:0007631 involved_in feeding behavior IEA
GO:0019222 involved_in regulation of metabolic process IEA,IBA 21873635
GO:0030073 involved_in insulin secretion IEA
GO:0032868 involved_in response to insulin IEA
GO:0045780 involved_in positive regulation of bone resorption IMP 16614075
GO:0060259 regulation of feeding behavior IEA
GO:1903998 involved_in regulation of eating behavior IEA,ISS
GO:1990680 involved_in response to melanocyte-stimulating hormone IEA,ISS
GO:2000252 involved_in negative regulation of feeding behavior IEA
GO:2000821 involved_in regulation of grooming behavior IEA
https://www.genecards.org/cgi-bin/carddisp.pl?gene=MC4R&keywords=mc4r
TMEM126A
Chromosome 11 85358999 TMEM126A rs886048712 C/T
T=0.000113 (30/264690, TOPMED)
T=0.000093 (13/140284, GnomAD)
T=0.00011 (2/18520, ALFA)
T=0.0002 (1/4480, Estonian)
https://www.ncbi.nlm.nih.gov/snp/rs886048712
Entrez Gene Summary for TMEM126A Gene
The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Gene Ontology (GO) - Biological Process for TMEM126A Gene
GO ID Qualified GO term Evidence PubMed IDs
GO:0021554 involved_in optic nerve development IMP 19327736
GO:0032981 involved_in mitochondrial respiratory chain complex I assembly IBA 21873635
https://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM126A&keywords=TMEM126A
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