AutismKB 2.0

Evidence Details for C3orf15


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Basic Information Top
Gene Symbol:C3orf15 ( AAT1,AAT1alpha,DKFZp781A2221 )
Gene Full Name: chromosome 3 open reading frame 15
Band: 3q12-q13.3
Quick LinksEntrez ID:89876; OMIM: 609910; Uniprot ID:AAT1_HUMAN; ENSEMBL ID: ENSG00000183833; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C3orf15|89876|nucleotide
ATGAGCCACGCAGTAACCATCGAGGAGCCCCAGGCCCAGCCGCAGGTGTCTCAAACTCGGTACCGGGAGAGGTCGCGGGCTGGGAGCCACATCTCCTCCAATCGA
GCGTATGATTTTCTGTACGATCCATTGTTTATTGTGTCAAGTGAGAAAGACCATACACAGGCAAATATCCAAGCTACCCTGATTCGCAGCAGACTGAGAAAAGTT
CCCAGGTTTAAAACCATGTTCAGTAACCTGATCCATTATCCAAGATATTCTCTATATTGGAGCAAGTCAGATCCTGTCCCACCATTTATCAGTCGGGAATGGAAG
GGACATAAGGAGAAACACAGAGAAGCCCTCCGGCAGCTCACCACAACTGACGCTTCTTTTCAGATGCCTAAAGAAGTTTATGAAGATCCTGAAGTTACTGGAAAG
AATCGCTATAAATACTTTGAAAGGCCTTTTCTCCCATTTTTTCAGCAGATGCCATTCAATGTTGTTTATGCCGTATCCAAGGCAGAACCATACACTTTTCCTCCT
ACTTCTACTAAGCACCTATCCATCCCTTCAAAGTCTACTGTGGGCACTCAGACTGATTATCGGGATGCTGACGTTCAAACAGATCCATACTCTCCAGAATATGTA
GTATGTCAGGACTCAATCCCTGAGCTCTTGACCCTGGCTACGCTTACTTGGGGTCGGGGTCTCCCAGCAGGACAAGCTGAGGTGGAGATGATAGAAAGAGCCCGC
GAGAAGCGTGCTTGGGAAGCCTCTCTCCCCGCTCTGAGTGACACCTCCCAGTTTGAGAAGAGGAGGAAAATGATGAATGAAATGGAGAGGAAGGAGTGGGCCTTC
AGAGAGCAGGAGATTGAAAAACTGCAGGAGATTCGCCTGGAAGTTCTAAAAGAGCTGTTGAGGAAGCGTGAAGAGAATCAGAATGAAGTGAATATGAAGCACTTG
AATGCCCGGTGGTCTAAACTGCAGGAGGGAAAAGAGGCAAAAATGGCAAAAATTCAGCGCACGCATGTATCAACAATCAGAAAACTTGTAGGAAAGAGAAAGAAT
ATAGAAGGGAAGTTGGAGAGAAGAAATATCATCAAGGATTATTCTGATTATGCATCACAGGTCTATGGACCTCTGTCTCGTCTTGGGTGTTTCCCAGACAACAAC
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>C3orf15|89876|protein
MSHAVTIEEPQAQPQVSQTRYRERSRAGSHISSNRAYDFLYDPLFIVSSEKDHTQANIQATLIRSRLRKVPRFKTMFSNLIHYPRYSLYWSKSDPVPPFISREWK
GHKEKHREALRQLTTTDASFQMPKEVYEDPEVTGKNRYKYFERPFLPFFQQMPFNVVYAVSKAEPYTFPPTSTKHLSIPSKSTVGTQTDYRDADVQTDPYSPEYV
VCQDSIPELLTLATLTWGRGLPAGQAEVEMIERAREKRAWEASLPALSDTSQFEKRRKMMNEMERKEWAFREQEIEKLQEIRLEVLKELLRKREENQNEVNMKHL
NARWSKLQEGKEAKMAKIQRTHVSTIRKLVGKRKNIEGKLERRNIIKDYSDYASQVYGPLSRLGCFPDNNSEDFVVKNYYLNTYEGLVELESCLPDFVTQPQIRA
PKPKVITTKAGFLKRAARLDYELAEVHKALLDKKNKVLEVKKPPRFLQRNPIPQPRLPTPTLEMTSNEEEEMEMAVIYLQKLLRGRVVQNMMFEGKEKRLELIQE
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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
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