AutismKB 2.0

Evidence Details for POU1F1


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Basic Information Top
Gene Symbol:POU1F1 ( CPHD1,GHF-1,PIT1,POU1F1a,Pit-1 )
Gene Full Name: POU class 1 homeobox 1
Band: 3p11.2
Quick LinksEntrez ID:5449; OMIM: 173110; Uniprot ID:PIT1_HUMAN; ENSEMBL ID: ENSG00000064835; HGNC ID: 9210
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POU1F1|5449|nucleotide
ATGAGTTGCCAAGCTTTTACTTCGGCTGATACCTTTATACCTCTGAATTCTGACGCCTCTGCAACTCTGCCTCTGATAATGCATCACAGTGCTGCCGAGTGTCTA
CCAGTCTCCAACCATGCCACCAATGTGATGTCTACAGCAACAGGACTTCATTATTCTGTTCCTTCCTGTCATTATGGAAACCAGCCATCAACCTATGGAGTGATG
GCAGGTAGTTTAACCCCTTGTCTTTATAAATTTCCTGACCACACCTTGAGTCATGGATTTCCTCCTATACACCAGCCTCTTCTGGCAGAGGACCCCACAGCTGCT
GATTTCAAGCAGGAACTCAGGCGGAAAAGTAAATTGGTGGAAGAGCCAATAGACATGGATTCTCCAGAAATCAGAGAACTTGAAAAGTTTGCCAATGAATTTAAA
GTGAGACGAATTAAATTAGGATACACCCAGACAAATGTTGGGGAGGCCCTGGCAGCTGTGCATGGCTCTGAATTCAGTCAAACAACAATCTGCCGATTTGAAAAT
CTGCAGCTCAGCTTTAAAAATGCATGCAAACTGAAAGCAATATTATCCAAATGGCTGGAGGAAGCTGAGCAAGTAGGAGCTTTGTACAATGAAAAAGTGGGAGCA
AATGAAAGGAAAAGAAAACGAAGAACAACTATAAGCATTGCTGCTAAAGATGCTCTGGAGAGACACTTTGGAGAACAGAATAAACCTTCTTCTCAAGAGATCATG
AGGATGGCTGAAGAACTGAATCTGGAGAAAGAAGTAGTAAGAGTTTGGTTTTGCAACCGGAGGCAGAGAGAAAAACGGGTGAAAACAAGTCTGAATCAGAGTTTA
TTTTCTATTTCTAAGGAACATCTTGAGTGCAGATAA


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>POU1F1|5449|protein
MSCQAFTSADTFIPLNSDASATLPLIMHHSAAECLPVSNHATNVMSTATGLHYSVPSCHYGNQPSTYGVMAGSLTPCLYKFPDHTLSHGFPPIHQPLLAEDPTAA
DFKQELRRKSKLVEEPIDMDSPEIRELEKFANEFKVRRIKLGYTQTNVGEALAAVHGSEFSQTTICRFENLQLSFKNACKLKAILSKWLEEAEQVGALYNEKVGA
NERKRKRRTTISIAAKDALERHFGEQNKPSSQEIMRMAEELNLEKEVVRVWFCNRRQREKRVKTSLNQSLFSISKEHLECR


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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 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top