AutismKB 2.0

Evidence Details for C3orf38


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C3orf38 ( FLJ54270,MGC26717 )
Gene Full Name: chromosome 3 open reading frame 38
Band: 3p11.1
Quick LinksEntrez ID:285237; OMIM: NA; Uniprot ID:CC038_HUMAN; ENSEMBL ID: ENSG00000179021; HGNC ID: 28384
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C3orf38|285237|nucleotide
ATGGAGATGTCGGGACTCAGCTTTTCAGAGATGGAGGGCTGCCGTAACCTACTTGGCCTACTGGACAACGACGAGATCATGGCCCTATGCGACACCGTCACCAAC
CGCCTGGTGCAGCCTCAGGACCGCCAAGATGCTGTTCATGCAATATTAGCATACAGTCAAAGTGCAGAAGAACTTCTGAGGCGTAGAAAAGTCCACCGAGAAGTT
ATATTTAAGTACTTGGCAACACAGGGGATTGTTATACCTCCAGCTACTGAAAAACACAATCTTATTCAGCATGCAAAAGATTACTGGCAAAAGCAACCACAACTG
AAATTGAAGGAAACGCCAGAGCCAGTTACAAAGACAGAGGACATCCACCTATTTCAACAGCAGGTGAAAGAAGATAAAAAAGCTGAAAAAGTTGATTTTCGTCGC
CTAGGAGAAGAATTCTGTCATTGGTTCTTTGGACTTCTTAATTCTCAGAATCCTTTTCTAGGACCACCTCAAGATGAATGGGGACCACAGCACTTCTGGCATGAT
GTGAAGCTTAGGTTTTATTACAACACATCAGAACAAAATGTTATGGACTACCATGGAGCAGAAATCGTGAGCCTTCGTTTGCTGTCACTAGTAAAAGAAGAATTT
CTTTTTCTCAGCCCCAACCTAGATTCACATGGACTGAAATGTGCATCTTCTCCTCATGGGCTGGTTATGGTTGGAGTTGCTGGGACTGTCCATCGAGGAAACACT
TGTTTGGGCATTTTTGAACAAATTTTTGGACTCATCCGCTGCCCTTTTGTGGAGAATACTTGGAAAATCAAATTTATCAACCTGAAAATTATGGGAGAGAGTTCC
CTTGCTCCTGGAACATTACCGAAACCATCTGTTAAATTTGAACAAAGTGATCTAGAGGCCTTTTATAATGTAATCACTGTATGTGGTACCAATGAAGTACGACAT
AATGTAAAGCAGGCTTCGGATAGTGGAACTGGGGACCAAGTTTGA

Show »

>C3orf38|285237|protein
MEMSGLSFSEMEGCRNLLGLLDNDEIMALCDTVTNRLVQPQDRQDAVHAILAYSQSAEELLRRRKVHREVIFKYLATQGIVIPPATEKHNLIQHAKDYWQKQPQL
KLKETPEPVTKTEDIHLFQQQVKEDKKAEKVDFRRLGEEFCHWFFGLLNSQNPFLGPPQDEWGPQHFWHDVKLRFYYNTSEQNVMDYHGAEIVSLRLLSLVKEEF
LFLSPNLDSHGLKCASSPHGLVMVGVAGTVHRGNTCLGIFEQIFGLIRCPFVENTWKIKFINLKIMGESSLAPGTLPKPSVKFEQSDLEAFYNVITVCGTNEVRH
NVKQASDSGTGDQV

Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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