AutismKB 2.0

Evidence Details for C3orf58


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Basic Information Top
Gene Symbol:C3orf58 ( DIA1,MGC33365 )
Gene Full Name: chromosome 3 open reading frame 58
Band: 3q24
Quick LinksEntrez ID:205428; OMIM: 612200; Uniprot ID:CC058_HUMAN; ENSEMBL ID: ENSG00000181744; HGNC ID: 28490
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C3orf58|205428|nucleotide
ATGAAGTCGGAGAACGGGACAGTGGTCGGGAGTTTTCCGTCTGATGAAGGTTGGCCATTTGCAAAGTATCTTGGAGCTTGTGGAAGAATGGTGGCTGTAAATTAT
GTTGGAGAAGAACTGTGGAGTTACTTTAATGCGCCATGGGAAAAACGAGTTGACCTCGCTTGGCAATTAATGGAAATAGCAGAACAGCTTACAAACAATGACTTT
GAATTTGCACTCTACCTCCTGGACGTCAGCTTTGACAATTTTGCAGTTGGTCCTAGAGATGGGAAGGTAATCATTGTGGATGCTGAAAATGTTTTGGTTGCTGAC
AAAAGATTAATTAGACAAAATAAACCTGAAAATTGGGATGTATGGTATGAAAGCAAGTTTGATGACTGTGATAAGGAGGCTTGCTTATCATTTTCAAAAGAAATT
CTTTGTGCTCGTGCCACTGTGGACCACAATTACTATGCTGTTTGTCAGAACCTCTTATCCAGACATGCCACCTGGCGTGGCACTTCTGGAGGACTCCTTCATGAT
CCACCAAGTGAAATTGCCAAAGATGGCCGGCTCGAGGCCTTGCTGGATGAGTGTGCCAACCCAAAGAAGCGCTATGGCAGATTCCAGGCTGCAAAAGAACTGCGT
GAATACCTAGCACAATTAAGTAACAACGTGAGGTAG




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>C3orf58|205428|protein
MKSENGTVVGSFPSDEGWPFAKYLGACGRMVAVNYVGEELWSYFNAPWEKRVDLAWQLMEIAEQLTNNDFEFALYLLDVSFDNFAVGPRDGKVIIVDAENVLVAD
KRLIRQNKPENWDVWYESKFDDCDKEACLSFSKEILCARATVDHNYYAVCQNLLSRHATWRGTSGGLLHDPPSEIAKDGRLEALLDECANPKKRYGRFQAAKELR
EYLAQLSNNVR


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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 10 (3)
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
Morrow, 2008 USA aCGH, SNP microarrayASD 104 79 25 - - - -
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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