Genetic Genie and My Rare Genetic Mutations
I uploaded my Dante Labs whole genome to a free DNA analysis tool site Genetic Genie.
This is me going over my rare mutations.
I have a lot of rare mutations that include a lot in regards to brain/neurological processing which I am very interested in because of my being a neurodivergent with Dyslexia, Dyspraxia, ADHD.
Rare mutations are mutations with a frequency of under 1%.
One of my rarest genetic mutations is a IQSEC2 genetic mutation which has a frequency of only .0016%! It is my third rarest mutation. The IQSEC2 gene is an important gene contributing to the development and function of neurons (brain cells) in the brain. It is an X Chromosome gene linked to intellectual disability.
I have SHANK2 genetic mutation which has connections to Autism and ADHD and has a frequency of 0.884%.
I have FOX1P genetic mutation which has connections to Intellectual Disability, Autism, and language impairments and has a frequency of 0.0191%
I have GRIN2B genetic mutation which has connections to Intellectual Disability and has a frequency of 0.2238%
stuff on IQSEC2
IQSEC2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)
IQSEC2 - Collect information about clinic management and research projects (humandiseasegenes.nl)
AutDB - Autism Database - Search (mindspec.org)
stuff on FOX1P
AutDB - Autism Database - Search (mindspec.org)
stuff on SHANK2
AutDB - Autism Database - Search (mindspec.org)
stuff on GRIN2B
AutDB - Autism Database - Search (mindspec.org)
My rarest genetic mutations:
1T. BCLAF1 - GA (Heterozygous)
Variant: c.2743C>T
(p.Arg915Cys)
rsID: rs62431283
Ref Allele: G
Alt Allele: A
Freq: 0.0008% rare
CADD: 29.8
molecular function: DNA binding, transcription coregulator activity, RNA binding, protein binding
biological function: apoptotic process, positive regulation of apoptotic process,
regulation of DNA-templated transcription in response to stress, negative regulation of transcription, DNA-templated, positive regulation of transcription by RNA polymerase II
https://www.genecards.org/cgi-bin/carddisp.pl?gene=BCLAF1&keywords=bclaf1
1T. PLEC - CT (Heterozygous)
Variant: c.8576G>A
(p.Arg2859His)
rsID: rs6558407
Ref Allele: C
Alt Allele: T
Freq: 0.0008% rare
CADD: 18.85
molecular function: RNA binding, actin binding, structural molecule activity, structural constituent of cytoskeleton, protein binding
biological process: hemidesmosome assembly,
wound healing, intermediate filament cytoskeleton organization
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEC&keywords=PLEC
2. IQSEC2 - TT (Homozygous)
Variant: c.1620G>A
(p.Gln540=)
rsID: rs376149648
Ref Allele: C
Alt Allele: T
Freq: 0.0016% rare
molecular function: ARF guanyl-nucleotide exchange factor activity, protein binding
biological process: actin cytoskeleton organization, regulation of ARF protein signal transduction, modulation of chemical synaptic transmission, regulation of neurotransmitter receptor localization to postsynaptic specialization membrane
https://www.genecards.org/cgi-bin/carddisp.pl?gene=IQSEC2&keywords=IQSEC2
3. GLI3 - TA (Heterozygous)
Variant: c.3119A>T
(p.Glu1040Val)
rsID: rs376477553
Ref Allele: T
Alt Allele: A
Freq: 0.0032% rare
CADD: 23.5
molecular function: RNA polymerase II regulatory region sequence-specific DNA binding, RNA polymerase II proximal promoter sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, nucleic acid binding, DNA binding
biological process: negative regulation of transcription by RNA polymerase II, metanephros development , branching involved in ureteric bud morphogenesis, in utero embryonic development , kidney development
https://www.genecards.org/cgi-bin/carddisp.pl?gene=GLI3&keywords=GLI3
4. MC4R - GT (Heterozygous)
Variant: c.896C>A
(p.Pro299His)
rsID: rs52804924
Ref Allele: G
Alt Allele: T
Freq: 0.004% rare
CADD: 31
molecular function: G protein-coupled receptor activity, melanocortin receptor activity, melanocyte-stimulating hormone receptor activity, protein binding, peptide hormone binding
biological process: diet induced thermogenesis, energy reserve metabolic process, signal transduction, G protein-coupled receptor signaling pathway, adenylate cyclase-modulating G protein-coupled receptor signaling pathway
https://www.genecards.org/cgi-bin/carddisp.pl?gene=MC4R&keywords=MC4R
5T. TTN - TC (Heterozygous)
Variant: c.9827A>G
(p.Glu3276Gly)
rsID: rs377049518
Ref Allele: T
Alt Allele: C
Freq: 0.0056% rare
CADD: 22.9
molecular function: nucleotide binding, protease binding, protein kinase activity , protein serine/threonine kinase activity, protein tyrosine kinase activity
biological process: platelet degranulation, cardiac muscle hypertrophy, protein phosphorylation, muscle contraction, striated muscle contraction
https://www.genecards.org/cgi-bin/carddisp.pl?gene=TTN&keywords=TTN
5T. NF1 - GT (Heterozygous)
Variant: c.7394+8G>T
rsID: rs376147282
Ref Allele: G
Alt Allele: T
Freq: 0.0056% rare
CADD: 12.32
molecular function: GTPase activator activity , protein binding, lipid binding, phosphatidylethanolamine binding, phosphatidylcholine binding
biological process: MAPK cascade, osteoblast differentiation, metanephros development, response to hypoxia, liver development
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NF1&keywords=NF1
6. MUC5B - GA (Heterozygous)
Variant: c.3186G>A
(p.Pro1062=)
rsID: rs78669250
Ref Allele: G
Alt Allele: A
Freq: 0.0064% rare
CADD: 0.317
molecular function: protein binding
biological process: stimulatory C-type lectin receptor signaling pathway, O-glycan processing
https://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B&keywords=MUC5B
7. SLC24A1 - GA (Heterozygous)
Variant: c.-161G>A
rsID: rs886051345
Ref Allele: G
Alt Allele: A
Freq: 0.008% rare
CADD: 12.98
molecular function: calcium channel activity, protein binding, calcium, potassium:sodium antiporter activity, symporter activity, antiporter activity
biological process: ion transport, calcium ion transport, cellular calcium ion homeostasis, visual perception, response to light intensity
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC24A1&keywords=slc24a1
8. IGHMB2 - AG (Heterozygous)
Variant: c.103A>G
(p.Ile35Val)
rsID: rs199586231
Ref Allele: A
Alt Allele: G
Freq: 0.0088% rare
CADD: 8.759
molecular function: tRNA binding, nucleotide binding,
nucleic acid binding, DNA binding, DNA helicase activity
biological process: negative regulation of transcription by RNA polymerase II, DNA replication, DNA repair, DNA recombination, translation
https://www.genecards.org/cgi-bin/carddisp.pl?gene=IGHMBP2&keywords=IGHMBP2
9. MUC5B - CT (Heterozygous)
Variant: c.3189C>T
(p.Asp1063=)
rsID: rs77996005
Ref Allele: C
Alt Allele: T
Freq: 0.0096% rare
CADD: 1.125
same as 6
10. TMEM126A - CT (Heterozygous)
Gene: TMEM126A
Variant: c.-142C>T
rsID: rs886048712
Ref Allele: C
Alt Allele: T
Freq: 0.0104% rare
CADD: 7.97
molecular function: no info
biological process: optic nerve development, mitochondrial respiratory chain complex I assembly
https://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM126A&keywords=TMEM126A
My rare genetic mutations that I suspect factor into my neurodivergence
Gene: GRIN2B - CG (Heterozygous)
Variant: c.-18-10G>C
rsID: rs146841522
Ref Allele: C
Alt Allele: G
Freq: 0.2238% rare
CADD: 8.632
molecular function: amyloid-beta binding, ionotropic glutamate receptor activity, NMDA glutamate receptor activity, ion channel activity, protein binding
biological process: MAPK cascade, ion transport, glutamate receptor signaling pathway, chemical synaptic transmission, multicellular organism development
https://www.genecards.org/cgi-bin/carddisp.pl?gene=GRIN2B&keywords=grin2b
FOXP1 - AC (Heterozygous)
Variant: c.855T>G
(p.Thr285=)
rsID: rs141007926
Ref Allele: A
Alt Allele: C
Freq: 0.0191% rare
CADD: 11.5
molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific, core promoter sequence-specific DNA binding, DNA binding, DNA-binding transcription factor activity, protein binding
biological process: negative regulation of B cell apoptotic process, regulation of transcription, DNA-templated, regulation of transcription by RNA polymerase II , cellular response to DNA damage stimulus, regulation of gene expression
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXP1&keywords=foxp1
SHANK2 - GA (Heterozygous)
Variant: c.207+15C>T
rsID: rs77851214
Ref Allele: G
Alt Allele: A
Freq: 0.884% rare
CADD: 2.102
molecular function: protein binding, SH3 domain binding, receptor signaling complex scaffold activity,
GKAP/Homer scaffold activity, ionotropic glutamate receptor binding
biological process: synapse assembly, behavior, learning, memory, adult behavior
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SHANK2&keywords=shank2
I have four rare OTOGL mutations:
They have to do with inner ear
Dr. Harold N. Levinson had a theory that neurodivergent conditions are connected to inner ear problems.
OTOGL
Variant: c.2537C>T
(p.Pro846Leu)
rsID: rs183159689
Ref Allele: C
Alt Allele: T
Freq: 0.0948% rare
CADD: 24.6
CT (Heterozygous)
Variant: c.3329T>C
(p.Ile1110Thr)
rsID: rs150426222
Ref Allele: T
Alt Allele: C
Freq: 0.1943% rare
CADD: 19.61
TC (Heterozygous)
Variant: c.3042A>G
(p.Gln1014=)
rsID: rs144125797
Ref Allele: A
Alt Allele: G
Freq: 0.1975% rare
CADD: 1.037
AG (Heterozygous)
Variant: c.3228T>C
(p.Thr1076=)
rsID: rs138823379
Ref Allele: T
Alt Allele: C
Freq: 0.2055% rare
CADD: 11.52
TC (Heterozygous)
molecular function: protein binding, alpha-L-arabinofuranosidase activity
biological process: sensory perception of sound, L-arabinose metabolic process
https://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOGL&keywords=otogl
7:34 into the video - checking out genetic conditions 8:55 into the video - checking out drug response 9:45 into the video - checking out other risks 15:39 into the video - checking out rare mutations 1:42:14 into the video - checking out mutations in connection to neurodevelopmental disorders 1:43:16 into the video - checking out mutations in connection to mental retardation 1:44:15 into the video - checking out mutations in connection to Autism 1:44:57 into the video - checking out mutations in connection to syndromes 1:45:45 into the video - checking out mutations in connection to dilated cardiomyopathy 1:46:15 into the video - checking out mutations in connection to diabetes 1:46:50 into the video - checking out mutations in connection to immune disorders 1:47:28 into the video - checking out mutations in connection to cerebellar disorders 1:48:37 into the video - checking out mutations in connection to neurological disorders 1:49:08 into the video - checking out mutations in connection to dystonia 1:49:34 into the video - checking out mutations in connection to ciliary dyskinesia 1:50:20 into the video - checking out mutations in connection to epilepsy 1:50:57 into the video - checking out mutations in connection to seizures 1:51:27 into the video - checking out mutations in connection to endocrine disorders 1:51:38 into the video - checking out mutations in connection to thyroid disorders 1:52:03 into the video - checking out mutations in connection to muscular disorders 1:54:30 into the video - checking out mutations in connection to mitochondrial disorders 1:55:23 into the video - checking out mutations in connection X-linked disorders
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