AutismKB 2.0

Evidence Details for C10orf76


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Basic Information Top
Gene Symbol:C10orf76 ( FLJ13114,MGC125927 )
Gene Full Name: chromosome 10 open reading frame 76
Band: 10q24.32
Quick LinksEntrez ID:79591; OMIM: NA; Uniprot ID:CJ076_HUMAN; ENSEMBL ID: ENSG00000120029; HGNC ID: 25788
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C10orf76|79591|nucleotide
ATGGCACAGGTAGAGAAACGTGGAGGTTTGCTCCGGAAATCTTCAGCCTCCAAAAAACCACTGAAGGAAAAAGTGGTGCTGATGTATGATGAGATCTTCATGACA
GAGGACCCCAGTAAGTGCAGTCCTCGGTTTTGGGAGGAGCTCTTTCTCATGAAGGTGAATTTAGAGTACCTAGAAGGCAAGCTGGAATCTCTTGATGGTGAGGAG
TTAATGAAGATCAAGGACAATATTAATTGCTTATTCCAACACTGCATCCAGGCTCTGGGAGAGGAGCATCCAATTCGGGTTGTCAATGCATTGCAGACCCTGTGC
GCACTCATTCGAGGAGTCCATCAAAAGAATAAGTCTACCTCTGGGTTTGACATTATCAACATGCTGATGGGCTTTGACAAGGCGGAGCTGTGCATGAAGAACTTG
ATGGAGAGTTTGGATTCATTGCTTTGTGCAGAAGGTTCTGAAAGTCTGAAGAGTTTATGTCTGAAACTTCTCCTTTGCTTAGTGACCGTGACAGATAACATCAGC
CAGAACACTATTCTCGAGTATGTAATGATCAACAGCATATTTGAAGCAATTTTACAGATACTTTCCCATCCCCCAAGTCGTAGGGAGCATGGGTATGATGCTGTC
GTCCTCTTGGCTTTGCTGGTGAACTATAGAAAATATGAGTCTGTGAATCCTTATATTGTGAAGCTGTCTATCGTGGATGATGAGGCCACACTCAATGGAATGGGA
CTTGTAATTGCTCAGGCTTTATCTGAGTACAACAGGCAGTATAAAGACAAGGAAGAAGAACACCAAAGTGGTTTTTTCTCTGCTTTAACAAATATGGTGGGCAGC
ATGTTCATAGCAGATGCCCATGAGAAAATCTCAGTACAAACCAATGAGGCCATTCTTCTGGCACTTTATGAAGCTGTTCATTTAAATCGCAACTTCATCACAGTA
TTAGCTCAGAGCCATCCAGAAATGGGCTTGGTGACGACCCCTGTCAGTCCTGCTCCTACAACCCCAGTCACACCACTTGGGACCACACCGCCTTCCTCTGATGTT
ATAAGTTCTGTGGAACTCCCACTGGATGCAGATGTACAGACCAGTAATCTACTGATAACCTTTTTAAAGTATAGCTCAATTGTCATGCAGGACACCAAAGATGAA
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>C10orf76|79591|protein
MAQVEKRGGLLRKSSASKKPLKEKVVLMYDEIFMTEDPSKCSPRFWEELFLMKVNLEYLEGKLESLDGEELMKIKDNINCLFQHCIQALGEEHPIRVVNALQTLC
ALIRGVHQKNKSTSGFDIINMLMGFDKAELCMKNLMESLDSLLCAEGSESLKSLCLKLLLCLVTVTDNISQNTILEYVMINSIFEAILQILSHPPSRREHGYDAV
VLLALLVNYRKYESVNPYIVKLSIVDDEATLNGMGLVIAQALSEYNRQYKDKEEEHQSGFFSALTNMVGSMFIADAHEKISVQTNEAILLALYEAVHLNRNFITV
LAQSHPEMGLVTTPVSPAPTTPVTPLGTTPPSSDVISSVELPLDADVQTSNLLITFLKYSSIVMQDTKDEHRLHSGKLCLIILTCIAEDQYANAFLHDDNMNFRV
NLHRMPMRHRKKAADKNLPCRPLVCAVLDLMVEFIVTHMMKEFPMDLYIRCIQVVHKLLCYQKKCRVRLHYTWRELWSALINLLKFLMSNETVLLAKHNIFTLAL
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018