AutismKB 2.0

Evidence Details for PWWP2A


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Basic Information Top
Gene Symbol:PWWP2A ( KIAA1935,MGC132770,MST101 )
Gene Full Name: PWWP domain containing 2A
Band: 5q33.3
Quick LinksEntrez ID:114825; OMIM: NA; Uniprot ID:PWP2A_HUMAN; ENSEMBL ID: ENSG00000170234; HGNC ID: 29406
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PWWP2A|114825|nucleotide
ATGGCGGCCGTGGCTGCAGAGGCGGCAGCGACTGCAGCGTCCCCCGGGGAGGGGGGCGCCGGCGAGGCCGAGCCGGAGATGGAGCCCATCCCCGGCAGTGAGGCC
GGCACTGACCCCCTCCCGGTCACGGCCACTGAAGCGTCTGTGCCGGATGGCGAGACTGACGGGCAGCAATCCGCTCCTCAGGCCGACGAGCCGCCGCTCCCGCCG
CCACCGCCGCCGCCGGGGGAGCTCGCCCGCAGCCCAGAGGCGGTGGGGCCGGAGCTGGAGGCTGAGGAGAAACTGTCCGTTCGGGTGGCGGAGTCGGCGGCAGCC
GCGCCTCAGGGAGGGCCGGAACTTCCACCTTCTCCTGCATCGCCGCCGGAGCAGCCCCCGGCTCCCGAGGAGCGCGAGGAGCCGCCGCTGCCTCAGCCCGTAGCC
CCGGCGCTCGTGCCGCCGGCGGGCGGGGACTCCACGGTGTCGCAACTGATCCCGGGCTCGGAGGTGCGGGTCACGCTGGACCACATCATTGAGGACGCGCTTGTC
GTGTCGTTCCGCTTCGGGGAGAAGCTCTTCTCCGGGGTCCTCATGGATCTGTCCAAAAGGTTTGGGCCCCATGGTATCCCTGTGACAGTATTTCCCAAAAGGGAA
TATAAGGATAAACCAGAAGCCATGCCGCTCCAAAGTAATACATTCCAAGAAGGGACAGAAGTCAAGTGTGAAGCAAATGGTGCTGTTCCCGATGACCCTTCTCCT
GTCCCGCATCCCGAGCTGAGCTTGGCTGAAAGCCTGTGGACTTCCAAACCACCACCTCTCTTCCATGAAGGAGCACCTTATCCTCCCCCTTTGTTTATCAGGGAC
ACATATAACCAATCAATACCTCAGCCACCTCCTCGGAAAATTAAGCGACCCAAACGAAAAATGTACAGGGAAGAACCCACTTCAATAATGAATGCTATTAAACTA
CGACCCAGGCAAGTTCTGTGTGATAAATGTAAAAACAGTGTTGTTGCTGAAAAAAAGGAAATTAGAAAAGGTAGTAGTGCAACTGACTCTTCTAAATATGAAGAT
AAAAAACGGAGAAATGAAAGTGTAACTACTGTGAACAAAAAACTGAAAACTGACCATAAAGTGGATGGGAAAAACCAAAATGAAAGCCAGAAAAGAAATGCTGTG
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>PWWP2A|114825|protein
MAAVAAEAAATAASPGEGGAGEAEPEMEPIPGSEAGTDPLPVTATEASVPDGETDGQQSAPQADEPPLPPPPPPPGELARSPEAVGPELEAEEKLSVRVAESAAA
APQGGPELPPSPASPPEQPPAPEEREEPPLPQPVAPALVPPAGGDSTVSQLIPGSEVRVTLDHIIEDALVVSFRFGEKLFSGVLMDLSKRFGPHGIPVTVFPKRE
YKDKPEAMPLQSNTFQEGTEVKCEANGAVPDDPSPVPHPELSLAESLWTSKPPPLFHEGAPYPPPLFIRDTYNQSIPQPPPRKIKRPKRKMYREEPTSIMNAIKL
RPRQVLCDKCKNSVVAEKKEIRKGSSATDSSKYEDKKRRNESVTTVNKKLKTDHKVDGKNQNESQKRNAVVKVSNIAHSRGRVVKVSAQANTSKAQLSTKKVLQS
KNMDHAKAREVLKIAKEKAQKKQNETSTSKNAHSKVHFTRRYQNPSSGSLPPRVRLKPQRYRNEENDSSLKTGLEKMRSGKMAPKPQSRCTSTRSAGEAPSENQS
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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 (2) 0 (0) 0 (0) 0 (0) 0 (2)
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
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
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

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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