AutismKB 2.0

Evidence Details for C6orf132


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Basic Information Top
Gene Symbol:C6orf132 ( FLJ90086,bA7K24.2 )
Gene Full Name: chromosome 6 open reading frame 132
Band: 6p21.1
Quick LinksEntrez ID:647024; OMIM: NA; Uniprot ID:CF132_HUMAN; ENSEMBL ID: ENSG00000188112; HGNC ID: 21288
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C6orf132|647024|nucleotide
ATGAAAAAGAAGCAGACGGTGCAGGGCACCTTCAGCAAACTCTTCGGGAAGAAGCACACCACGACCCCCAGCACCTCCCTCTACGCCACCAATCCGCCCTGGATC
TTCACCCAGGAGGCCCCGGAGGAGGGGACCGGGGGCTTCGATGGCATCTATTATGGAGACAATCGGTTTAACACAGTGAGCGAGTCAGGAACAGCCACGCTGAAA
GCTCGGCCAAGAGTCCGGCCCCTGCTGACCTTCCTTCCGCTGAATGCCCAGGAAAACCATGGGCTGGCTGTGCCCACCCCCTCGGTTCCAGATGATTTTGCAGAC
AAAGAAGTGACAGGTACCAGCTCACTAGTCAATGGCAACCTCCGACTGTACAGCTCTGTGGGTGACCTGAGGCCTGGACAATATGGCCAGGATCTACTCATCCCC
CCACCTCCCCCAGGCCCAGCCCCAGGGCCCCCTCAGGACATTTCAGAACCTCCAGGGGGGTCGCCACTGCCATCTCCACCTTCCACAGCACCCCCACCACCTCCC
CTGCTGCTGGAACCCCCACCCCCGCCCAGCATGGCCCCACCTCCACCCCCAGTATTGGAGGCCCTATCCCCACCACACACTCTTTCCTCCCCATCCATACCCACC
CCTCCTGACTTCATTCCCCCTGCCCCACCCTTGGCCTTTCTAGCCCCCCCACCGCCTCCTGTGCCAGCCCCAGCACCCCCAGCTCCAGCATCTCCTCACACAGTG
GGGACTCGTCTCTTTCCCCCTGGGGGTGTCACCAAGTGGAAATCAGATGTAGCACTGAATGGCAGGCAGGCAGAGGCCACCAGAGCCAGCCCCCCGAGAAGCCCT
GCTGAGCCAAAGGGGAGCGCCCTGGGACCTAACCCAGAGCCCCATCTCACCTTCCCCCGTTCTTTCAAAGTGCCTCCCCCAACCCCAGTCAGGACTTCGTCCATC
CCAGTTCAGGAAGCACAAGAGGCTCCCCGAAAGGAAGAGGGGGCCACCAAGAAGGCTCCCAGCCGACTCCCACTGCCTCCCAGCTTCCACATCCGCCCCGCCTCC
CAGGTCTACCCAGACAGGGCCCCCGAGCCAGACTGCCCTGGGGAGCTCAAGGCCACAGCACCAGCCAGCCCAAGGCTTGGCCAGTCCCAGTCCCAAGCAGATGAA
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>C6orf132|647024|protein
MKKKQTVQGTFSKLFGKKHTTTPSTSLYATNPPWIFTQEAPEEGTGGFDGIYYGDNRFNTVSESGTATLKARPRVRPLLTFLPLNAQENHGLAVPTPSVPDDFAD
KEVTGTSSLVNGNLRLYSSVGDLRPGQYGQDLLIPPPPPGPAPGPPQDISEPPGGSPLPSPPSTAPPPPPLLLEPPPPPSMAPPPPPVLEALSPPHTLSSPSIPT
PPDFIPPAPPLAFLAPPPPPVPAPAPPAPASPHTVGTRLFPPGGVTKWKSDVALNGRQAEATRASPPRSPAEPKGSALGPNPEPHLTFPRSFKVPPPTPVRTSSI
PVQEAQEAPRKEEGATKKAPSRLPLPPSFHIRPASQVYPDRAPEPDCPGELKATAPASPRLGQSQSQADERAGTPPPAPPLPPPAPPLPPPAPPLPPAAPPLPCA
QKAAHPPAGFTKTPKSSSPALKPKPNPPSPENTASSAPVDWRDPSQMEKLRNELAAYLCGSRREDRFLSHRPGPTVAPQSKEGKKGPRLPEKETLLSLPAKDTPP
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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 (1) 0 (0) 0 (0) 0 (2)
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
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (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