AutismKB 2.0

Evidence Details for WBP4


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Basic Information Top
Gene Symbol:WBP4 ( FBP21,MGC117310 )
Gene Full Name: WW domain binding protein 4 (formin binding protein 21)
Band: 13q14.11
Quick LinksEntrez ID:11193; OMIM: 604981; Uniprot ID:WBP4_HUMAN; ENSEMBL ID: ENSG00000120688; HGNC ID: 12739
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WBP4|11193|nucleotide
ATGGCGGACTACTGGAAGTCACAGCCAAAGAAATTCTGTGATTACTGCAAGTGCTGGATAGCAGACAATAGGCCTAGTGTTGAATTTCATGAAAGAGGAAAGAAT
CATAAGGAAAATGTGGCAAAAAGGATCAGTGAGATTAAACAGAAAAGCCTGGATAAGGCAAAGGAAGAAGAAAAGGCATCAAAGGAGTTTGCTGCAATGGAGGCA
GCTGCCCTGAAAGCATACCAAGAGGATTTGAAAAGACTTGGCTTAGAGTCAGAAATTTTGGAGCCAAGCATAACACCAGTAACCAGCACTATCCCACCTACCTCG
ACATCAAATCAACAGAAAGAAAAGAAAGAAAAGAAGAAAAGAAAAAAAGATCCTTCAAAGGGCAGATGGGTAGAAGGCATAACCTCTGAGGGTTACCATTACTAT
TATGATCTTATCTCAGGAGCATCTCAGTGGGAGAAACCTGAAGGATTTCAAGGAGACTTAAAAAAGACAGCAGTGAAGACCGTTTGGGTAGAAGGTTTAAGTGAA
GATGGTTTTACCTATTACTATAATACAGAAACAGGAGAATCCAGATGGGAGAAACCTGATGATTTCATTCCACACACTAGTGATCTGCCTTCTAGTAAGGTCAAT
GAAAATTCACTTGGCACCCTAGATGAATCCAAATCATCAGATTCGCATAGTGATTCTGATGGGGAACAGGAAGCAGAAGAAGGAGGGGTCTCTACAGAGACAGAA
AAGCCAAAAATAAAGTTTAAGGAAAAAAATAAAAATAGTGATGGAGGAAGTGACCCAGAAACACAGAAAGAAAAAAGTATTCAGAAACAGAATTCATTAGGTTCA
AATGAAGAAAAATCGAAAACTCTTAAGAAATCAAACCCATATGGAGAATGGCAAGAAATTAAACAAGAGGTTGAGTCTCATGAGGAGGTAGATTTGGAACTTCCA
AGCACTGAAAATGAGTATGTATCAACTTCAGAAGCTGATGGTGGCGGAGAACCCAAAGTGGTATTTAAAGAAAAAACAGTCACTTCTCTTGGAGTTATGGCAGAT
GGAGTGGCCCCAGTCTTCAAAAAGAGAAGAACTGAAAATGGAAAATCTAGAAATTTAAGGCAACGAGGTGATGATCAATAG
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>WBP4|11193|protein
MADYWKSQPKKFCDYCKCWIADNRPSVEFHERGKNHKENVAKRISEIKQKSLDKAKEEEKASKEFAAMEAAALKAYQEDLKRLGLESEILEPSITPVTSTIPPTS
TSNQQKEKKEKKKRKKDPSKGRWVEGITSEGYHYYYDLISGASQWEKPEGFQGDLKKTAVKTVWVEGLSEDGFTYYYNTETGESRWEKPDDFIPHTSDLPSSKVN
ENSLGTLDESKSSDSHSDSDGEQEAEEGGVSTETEKPKIKFKEKNKNSDGGSDPETQKEKSIQKQNSLGSNEEKSKTLKKSNPYGEWQEIKQEVESHEEVDLELP
STENEYVSTSEADGGGEPKVVFKEKTVTSLGVMADGVAPVFKKRRTENGKSRNLRQRGDDQ

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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Brand H, 2015 - CMA;WGS--ASD - - - - 259 - 259
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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