AutismKB 2.0

Evidence Details for ANP32A


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Basic Information Top
Gene Symbol:ANP32A ( C15orf1,I1PP2A,LANP,MAPM,MGC119787,MGC150373,PHAP1,PHAPI,PP32 )
Gene Full Name: acidic (leucine-rich) nuclear phosphoprotein 32 family, member A
Band: 15q23
Quick LinksEntrez ID:8125; OMIM: 600832; Uniprot ID:AN32A_HUMAN; ENSEMBL ID: ENSG00000140350; HGNC ID: 13233
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANP32A|8125|nucleotide
ATGGAGATGGGCAGACGGATTCATTTAGAGCTGCGGAACAGGACGCCCTCTGATGTGAAAGAACTTGTCCTGGACAACAGTCGGTCGAATGAAGGCAAACTCGAA
GGCCTCACAGATGAATTTGAAGAACTGGAATTCTTAAGTACAATCAACGTAGGCCTCACCTCAATCGCAAACTTACCAAAGTTAAACAAACTTAAGAAGCTTGAA
CTAAGCGATAACAGAGTCTCAGGGGGCCTGGAAGTATTGGCAGAAAAGTGTCCGAACCTCACGCATCTAAATTTAAGTGGCAACAAAATTAAAGACCTCAGCACA
ATAGAGCCACTGAAAAAGTTAGAAAACCTCAAGAGCTTAGACCTTTTCAATTGCGAGGTAACCAACCTGAACGACTACCGAGAAAATGTGTTCAAGCTCCTCCCG
CAACTCACATATCTCGACGGCTATGACCGGGACGACAAGGAGGCCCCTGACTCGGATGCTGAGGGCTACGTGGAGGGCCTGGATGATGAGGAGGAGGATGAGGAT
GAGGAGGAGTATGATGAAGATGCTCAGGTAGTGGAAGACGAGGAGGACGAGGATGAGGAGGAGGAAGGTGAAGAGGAGGACGTGAGTGGAGAGGAGGAGGAGGAT
GAAGAAGGTTATAACGATGGAGAGGTAGATGACGAGGAAGATGAAGAAGAGCTTGGTGAAGAAGAAAGGGGTCAGAAGCGAAAACGAGAACCTGAAGATGAGGGA
GAAGATGATGACTAA



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>ANP32A|8125|protein
MEMGRRIHLELRNRTPSDVKELVLDNSRSNEGKLEGLTDEFEELEFLSTINVGLTSIANLPKLNKLKKLELSDNRVSGGLEVLAEKCPNLTHLNLSGNKIKDLST
IEPLKKLENLKSLDLFNCEVTNLNDYRENVFKLLPQLTYLDGYDRDDKEAPDSDAEGYVEGLDDEEEDEDEEEYDEDAQVVEDEEDEDEEEEGEEEDVSGEEEED
EEGYNDGEVDDEEDEEELGEEERGQKRKREPEDEGEDDD


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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
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
Krumm N, 2015 2377 1373 77 Excess of rare, inherited truncating mutations 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