AutismKB 2.0

Evidence Details for POU2F1


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Basic Information Top
Gene Symbol:POU2F1 ( OCT1,OTF1 )
Gene Full Name: POU class 2 homeobox 1
Band: 1q24.2
Quick LinksEntrez ID:5451; OMIM: 164175; Uniprot ID:PO2F1_HUMAN; ENSEMBL ID: ENSG00000143190; HGNC ID: 9212
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POU2F1|5451|nucleotide
ATGCTGGACTGCAGTGACTATGTTCTAGACTCAAGAATGAACAATCCGTCAGAAACCAGTAAACCATCTATGGAGAGTGGAGATGGCAACACAGGCACACAAACC
AATGGTCTGGACTTTCAGAAGCAGCCTGTGCCTGTAGGAGGAGCAATCTCAACAGCCCAGGCGCAGGCTTTCCTTGGACATCTCCATCAGGTCCAACTCGCTGGA
ACAAGTTTACAGGCTGCTGCTCAGTCTTTAAATGTACAGTCTAAATCTAATGAAGAATCGGGGGATTCGCAGCAGCCAAGCCAGCCTTCCCAGCAGCCTTCAGTG
CAGGCAGCCATTCCCCAGACCCAGCTTATGCTAGCTGGAGGACAGATAACTGGGCTTACTTTGACGCCTGCCCAGCAACAGTTACTACTCCAGCAGGCACAGGCA
CAGGCACAGCTGCTGGCTGCTGCAGTGCAGCAGCACTCCGCCAGCCAGCAGCACAGTGCTGCTGGAGCCACCATCTCCGCCTCTGCTGCCACGCCCATGACGCAG
ATCCCCCTGTCTCAGCCCATACAGATCGCACAGGATCTTCAACAACTGCAACAGCTTCAACAGCAGAATCTCAACCTGCAACAGTTTGTGTTGGTGCATCCAACC
ACCAATTTGCAGCCAGCGCAGTTTATCATCTCACAGACGCCCCAGGGCCAGCAGGGTCTCCTGCAAGCGCAAAATCTTCTAACGCAACTACCTCAGCAAAGCCAA
GCCAACCTCCTACAGTCGCAGCCAAGCATCACCCTCACCTCCCAGCCAGCAACCCCAACACGCACAATAGCAGCAACCCCAATTCAGACACTTCCACAGAGCCAG
TCAACACCAAAGCGAATTGATACTCCCAGCTTGGAGGAGCCCAGTGACCTTGAGGAGCTTGAGCAGTTTGCCAAGACCTTCAAACAAAGACGAATCAAACTTGGA
TTCACTCAGGGTGATGTTGGGCTCGCTATGGGGAAACTATATGGAAATGACTTCAGCCAAACTACCATCTCTCGATTTGAAGCCTTGAACCTCAGCTTTAAGAAC
ATGTGCAAGTTGAAGCCACTTTTAGAGAAGTGGCTAAATGATGCAGAGAACCTCTCATCTGATTCGTCCCTCTCCAGCCCAAGTGCCCTGAATTCTCCAGGAATT
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>POU2F1|5451|protein
MLDCSDYVLDSRMNNPSETSKPSMESGDGNTGTQTNGLDFQKQPVPVGGAISTAQAQAFLGHLHQVQLAGTSLQAAAQSLNVQSKSNEESGDSQQPSQPSQQPSV
QAAIPQTQLMLAGGQITGLTLTPAQQQLLLQQAQAQAQLLAAAVQQHSASQQHSAAGATISASAATPMTQIPLSQPIQIAQDLQQLQQLQQQNLNLQQFVLVHPT
TNLQPAQFIISQTPQGQQGLLQAQNLLTQLPQQSQANLLQSQPSITLTSQPATPTRTIAATPIQTLPQSQSTPKRIDTPSLEEPSDLEELEQFAKTFKQRRIKLG
FTQGDVGLAMGKLYGNDFSQTTISRFEALNLSFKNMCKLKPLLEKWLNDAENLSSDSSLSSPSALNSPGIEGLSRRRKKRTSIETNIRVALEKSFLENQKPTSEE
ITMIADQLNMEKEVIRVWFCNRRQKEKRINPPSSGGTSSSPIKAIFPSPTSLVATTPSLVTSSAATTLTVSPVLPLTSAAVTNLSVTGTSDTTSNNTATVISTAP
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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 (0) 0 (0) 0 (1) 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
Monica, 2007 - aCGHautism - - - - 1 - 1
Linkage Studies Top