AutismKB 2.0

Evidence Details for POU2F3


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Basic Information Top
Gene Symbol:POU2F3 ( Epoc-1,FLJ40063,MGC126698,OCT11,PLA-1,Skn-1a )
Gene Full Name: POU class 2 homeobox 3
Band: 11q23.3
Quick LinksEntrez ID:25833; OMIM: 607394; Uniprot ID:PO2F3_HUMAN; ENSEMBL ID: ENSG00000137709; HGNC ID: 19864
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POU2F3|25833|nucleotide
ATGGTGAATCTGGAGTCCATGCACACAGATATCAAGATGAGTGGGGATGTAGCCGATTCCACGGATGCTCGCAGCACTCTCAGCCAGGTGGAGCCAGGAAATGAT
CGAAATGGCCTAGATTTCAACAGGCAGATTAAAACCGAAGATCTCAGTGACTCCCTGCAGCAGACCCTCTCCCATCGGCCATGCCACCTGAGTCAAGGACCTGCC
ATGATGTCCGGAAACCAAATGTCTGGGCTAAATGCCAGCCCATGTCAGGACATGGCTTCCCTCCATCCGCTCCAGCAGCTTGTGCTGGTTCCCGGCCACTTACAG
TCTGTATCCCAGTTCCTGCTATCTCAGACCCAGCCTGGGCAGCAAGGTCTGCAGCCAAATCTCCTCCCCTTTCCACAGCAACAAAGCGGTCTCCTCCTCCCACAG
ACTGGGCCGGGACTGGCATCCCAGGCATTTGGGCACCCTGGGCTGCCAGGATCCTCTTTAGAACCCCACCTGGAAGCATCCCAGCATCTCCCAGTGCCCAAGCAT
CTACCCAGCTCTGGAGGGGCCGATGAGCCCAGTGACCTCGAGGAGCTGGAGAAGTTTGCCAAGACCTTCAAGCAGAGGCGCATTAAGCTGGGCTTCACACAGGGA
GATGTGGGGCTGGCGATGGGAAAGCTGTATGGCAACGACTTCAGCCAGACCACCATCTCACGATTTGAGGCCCTCAACCTGAGCTTCAAGAACATGTGCAAGCTC
AAGCCCCTGCTGGAGAAGTGGCTGAATGATGCAGAGTCCTCTCCGTCAGACCCCTCAGTGAGCACGCCCAGCTCCTACCCCAGCCTCAGTGAAGTATTTGGTAGG
AAGAGAAAGAAACGGACCAGCATCGAGACCAACATCCGCCTGACTCTGGAGAAGAGGTTTCAAGATAACCCAAAACCCAGCTCGGAGGAGATCTCCATGATTGCA
GAGCAGTTGTCCATGGAGAAGGAGGTGGTGAGGGTCTGGTTCTGCAACCGACGCCAAAAGGAGAAGCGAATCAACTGCCCTGTGGCCACACCCATCAAACCACCT
GTCTACAACTCCCGGCTGGTATCTCCCTCAGGGTCTCTGGGCCCCCTCTCTGTCCCTCCTGTCCACAGTACCATGCCTGGAACAGTAACGTCATCCTGTTCCCCT
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>POU2F3|25833|protein
MVNLESMHTDIKMSGDVADSTDARSTLSQVEPGNDRNGLDFNRQIKTEDLSDSLQQTLSHRPCHLSQGPAMMSGNQMSGLNASPCQDMASLHPLQQLVLVPGHLQ
SVSQFLLSQTQPGQQGLQPNLLPFPQQQSGLLLPQTGPGLASQAFGHPGLPGSSLEPHLEASQHLPVPKHLPSSGGADEPSDLEELEKFAKTFKQRRIKLGFTQG
DVGLAMGKLYGNDFSQTTISRFEALNLSFKNMCKLKPLLEKWLNDAESSPSDPSVSTPSSYPSLSEVFGRKRKKRTSIETNIRLTLEKRFQDNPKPSSEEISMIA
EQLSMEKEVVRVWFCNRRQKEKRINCPVATPIKPPVYNSRLVSPSGSLGPLSVPPVHSTMPGTVTSSCSPGNNSRPSSPGSGLHASSPTASQNNSKAAVNSASSF
NSSGSWYRWNHSTYLH
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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 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top