AutismKB 2.0

Evidence Details for PHF12


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Basic Information Top
Gene Symbol:PHF12 ( FLJ34122,KIAA1523,MGC131914,PF1 )
Gene Full Name: PHD finger protein 12
Band: 17q11.2
Quick LinksEntrez ID:57649; OMIM: NA; Uniprot ID:PHF12_HUMAN; ENSEMBL ID: ENSG00000109118; HGNC ID: 20816
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PHF12|57649|nucleotide
ATGTGGGAGAAAATGGAGACCAAGACGATCGTGTACGACTTGGACACATCAGGGGGGCTGATGGAGCAAATCCAAGCTCTGCTGGCTCCCCCCAAGACGGACGAG
GCAGAAAAGCGCAGTCGGAAGCCTGAGAAGGAGCCCCGGAGAAGCGGCAGGGCCACCAACCACGACAGCTGCGATAGCTGCAAGGAAGGTGGAGATCTCCTGTGC
TGCGACCACTGCCCGGCTGCCTTCCACCTCCAGTGCTGTAACCCTCCACTGAGTGAAGAAATGTTGCCTCCTGGAGAGTGGATGTGTCACCGGTGCACTGTTCGC
CGAAAGAAACGAGAGCAGAAAAAGGAGCTGGGTCATGTCAATGGACTGGTGGACAAATCTGGCAAACGGACTACATCCCCCAGCAGTGACACTGACTTGTTGGAC
AGATCGGCCAGCAAAACTGAACTAAAGGCCATTGCCCATGCCCGGATCCTGGAAAGGAGAGCCAGCAGGCCTGGCACACCCACATCCAGCGCCAGCACAGAGACT
CCCACCTCTGAGCAGAATGATGTCGACGAAGACATCATTGACGTGGATGAGGAACCAGTAGCAGCGGAGCCAGACTATGTGCAGCCCCAGCTGAGGCGGCCCTTT
GAGCTGCTGATTGCTGCCGCCATGGAGCGGAACCCCACCCAATTTCAGTTGCCCAATGAACTGACTTGTACCACTGCACTACCAGGTTCTAGCAAGAGGAGAAGA
AAGGAGGAAACCACAGGGAAAAATGTTAAGAAGACACAGCATGAATTAGATCACAATGGTCTCGTTCCCTTACCCGTCAAAGTCTGCTTCACGTGTAACAGGAGT
TGCCGTGTGGCTCCTCTCATCCAGTGTGACTATTGCCCTCTCCTGTTTCACATGGATTGCCTCGAGCCGCCGCTCACTGCCATGCCCCTGGGCAGATGGATGTGT
CCGAATCACATCGAACATGTGGTGCTGAACCAGAAGAATATGACACTGAGCAATCGGTGCCAGGTGTTTGATCGTTTCCAGGACACCGTTTCGCAGCATGTCGTC
AAAGTGGACTTCCTGAACCGAATCCACAAGAAGCACCCCCCTAACCGGCGTGTGCTCCAGTCGGTCAAAAGAAGAAGCTTGAAGGTTCCTGATGCTATAAAATCT
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>PHF12|57649|protein
MWEKMETKTIVYDLDTSGGLMEQIQALLAPPKTDEAEKRSRKPEKEPRRSGRATNHDSCDSCKEGGDLLCCDHCPAAFHLQCCNPPLSEEMLPPGEWMCHRCTVR
RKKREQKKELGHVNGLVDKSGKRTTSPSSDTDLLDRSASKTELKAIAHARILERRASRPGTPTSSASTETPTSEQNDVDEDIIDVDEEPVAAEPDYVQPQLRRPF
ELLIAAAMERNPTQFQLPNELTCTTALPGSSKRRRKEETTGKNVKKTQHELDHNGLVPLPVKVCFTCNRSCRVAPLIQCDYCPLLFHMDCLEPPLTAMPLGRWMC
PNHIEHVVLNQKNMTLSNRCQVFDRFQDTVSQHVVKVDFLNRIHKKHPPNRRVLQSVKRRSLKVPDAIKSQYQFPPPLIAPAAIRDGELICNGIPEESQMHLLNS
EHLATQAEQQEWLCSVVALQCSILKHLSAKQMPSHWDSEQTEKADIKPVIVTDSSVTTSLQTADKTPTPSHYPLSCPSGISTQNSLSCSPPHQSPALEDIGCSSC
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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) 2 (6) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top