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