AutismKB 2.0

Evidence Details for C16orf70


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Basic Information Top
Gene Symbol:C16orf70 ( C16orf6,FLJ12076,LIN10,lin-10 )
Gene Full Name: chromosome 16 open reading frame 70
Band: 16q22.1
Quick LinksEntrez ID:80262; OMIM: NA; Uniprot ID:CP070_HUMAN; ENSEMBL ID: ENSG00000125149; HGNC ID: 29564
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C16orf70|80262|nucleotide
ATGCTGGACCTGGAGGTAGTGCCCGAACGCTCTCTGGGGAACGAGCAATGGGAATTCACGCTGGGAATGCCTCTGGCTCAGGCAGTAGCCATTCTTCAGAAGCAC
TGTCGCATCATCAAAAACGTCCAGGTTCTCTACAGTGAACAGTCTCCTCTAAGCCATGACCTCATTCTTAACCTGACTCAGGACGGGATCAAACTAATGTTTGAT
GCTTTCAATCAGAGACTTAAGGTGATCGAAGTATGTGATTTGACTAAAGTAAAGTTAAAATATTGTGGCGTGCATTTTAATTCTCAGGCCATAGCTCCTACCATT
GAACAGATTGACCAGTCTTTTGGCGCAACCCATCCTGGAGTGTACAACTCCGCTGAGCAGCTCTTCCATCTCAACTTCAGAGGACTGTCTTTCTCTTTTCAGTTA
GACTCATGGACTGAGGCTCCAAAGTATGAGCCCAATTTTGCCCATGGCCTGGCTTCTCTCCAGATACCCCATGGAGCAACTGTAAAACGAATGTACATCTACAGT
GGCAACAGCCTGCAGGATACCAAGGCTCCCATGATGCCTCTGAGCTGTTTCCTGGGCAATGTCTATGCTGAGAGTGTAGATGTTCTTCGAGATGGAACTGGACCT
GCAGGTTTACGACTTCGCCTACTTGCTGCAGGTTGTGGACCTGGCCTATTAGCAGATGCCAAGATGCGGGTATTTGAACGTTCAGTGTATTTTGGTGATTCCTGC
CAAGATGTTCTTAGCATGCTTGGCTCTCCACACAAAGTCTTCTATAAATCAGAAGACAAGATGAAAATTCATTCTCCTTCCCCTCATAAACAAGTTCCATCGAAG
TGTAATGACTACTTTTTTAACTACTTCACTCTTGGAGTGGACATCCTCTTTGATGCGAATACACACAAAGTGAAGAAGTTTGTTCTACACACCAATTACCCTGGG
CATTATAATTTCAACATTTATCATCGCTGTGAGTTCAAGATCCCACTAGCCATAAAGAAAGAAAACGCAGATGGTCAGACAGAAACATGCACGACCTACAGCAAG
TGGGACAACATCCAGGAGCTCCTGGGCCACCCTGTGGAGAAGCCTGTTGTCCTGCACAGGTCTTCCTCCCCAAACAACACCAACCCATTTGGTTCCACATTCTGC
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>C16orf70|80262|protein
MLDLEVVPERSLGNEQWEFTLGMPLAQAVAILQKHCRIIKNVQVLYSEQSPLSHDLILNLTQDGIKLMFDAFNQRLKVIEVCDLTKVKLKYCGVHFNSQAIAPTI
EQIDQSFGATHPGVYNSAEQLFHLNFRGLSFSFQLDSWTEAPKYEPNFAHGLASLQIPHGATVKRMYIYSGNSLQDTKAPMMPLSCFLGNVYAESVDVLRDGTGP
AGLRLRLLAAGCGPGLLADAKMRVFERSVYFGDSCQDVLSMLGSPHKVFYKSEDKMKIHSPSPHKQVPSKCNDYFFNYFTLGVDILFDANTHKVKKFVLHTNYPG
HYNFNIYHRCEFKIPLAIKKENADGQTETCTTYSKWDNIQELLGHPVEKPVVLHRSSSPNNTNPFGSTFCFGLQRMIFEVMQNNHIASVTLYGPPRPGSHLRTAE
LP
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
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