AutismKB 2.0

Evidence Details for CHMP2A


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Basic Information Top
Gene Symbol:CHMP2A ( BC-2,BC2,CHMP2,VPS2,VPS2A )
Gene Full Name: chromatin modifying protein 2A
Band: 19q13.43
Quick LinksEntrez ID:27243; OMIM: 610893; Uniprot ID:CHM2A_HUMAN; ENSEMBL ID: ENSG00000130724; HGNC ID: 30216
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CHMP2A|27243|nucleotide
ATGGACCTATTGTTCGGGCGCCGGAAGACGCCAGAGGAGCTACTGCGGCAGAACCAGAGGGCCCTGAACCGTGCCATGCGGGAGCTGGACCGCGAGCGACAGAAA
CTAGAGACCCAGGAGAAGAAAATCATTGCAGACATTAAGAAGATGGCCAAGCAAGGCCAGATGGATGCTGTTCGCATCATGGCAAAAGACTTGGTGCGCACCCGG
CGCTATGTGCGCAAGTTTGTATTGATGCGGGCCAACATCCAGGCTGTGTCCCTCAAGATCCAGACACTCAAGTCCAACAACTCGATGGCACAAGCCATGAAGGGT
GTCACCAAGGCCATGGGCACCATGAACAGACAGCTGAAGTTGCCCCAGATCCAGAAGATCATGATGGAGTTTGAGCGGCAGGCAGAGATCATGGATATGAAGGAG
GAGATGATGAATGATGCCATTGATGATGCCATGGGTGATGAGGAAGATGAAGAGGAGAGTGATGCTGTGGTGTCCCAGGTTCTGGATGAGCTGGGACTTAGCCTA
ACAGATGAGCTGTCGAACCTCCCCTCAACTGGGGGCTCGCTTAGTGTGGCTGCTGGTGGGAAAAAAGCAGAGGCCGCAGCCTCAGCCCTAGCTGATGCTGATGCA
GACCTGGAGGAACGGCTTAAGAACCTGCGGAGGGACTGA




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>CHMP2A|27243|protein
MDLLFGRRKTPEELLRQNQRALNRAMRELDRERQKLETQEKKIIADIKKMAKQGQMDAVRIMAKDLVRTRRYVRKFVLMRANIQAVSLKIQTLKSNNSMAQAMKG
VTKAMGTMNRQLKLPQIQKIMMEFERQAEIMDMKEEMMNDAIDDAMGDEEDEEESDAVVSQVLDELGLSLTDELSNLPSTGGSLSVAAGGKKAEAAASALADADA
DLEERLKNLRRD


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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 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (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
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
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
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.

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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