Post by glaucus on Jan 10, 2021 23:44:06 GMT
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 percent! 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)
Gene: IQSEC2 - (sfari.org)
AutDB - Autism Database - Search (mindspec.org)
stuff on FOX1P
Intellectual disability-severe speech delay-mild dysmorphism syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)
AutDB - Autism Database - Search (mindspec.org)
stuff on SHANK2
Gene: SHANK2 - (sfari.org)
AutDB - Autism Database - Search (mindspec.org)
stuff on GRIN2B
Gene: GRIN2B - (sfari.org)
Home | GRIN2B Foundation
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-, positive regulation of transcription by RNA polymerase II
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
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
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
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
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
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
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
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
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
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
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
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
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
www.genecards.org/cgi-bin/carddisp.pl?gene=SHANK2&keywords=shank2
I have four 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
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