AutismKB 2.0

Evidence Details for GTF2H1


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Basic Information Top
Gene Symbol:GTF2H1 ( BTF2,TFB1,TFIIH )
Gene Full Name: general transcription factor IIH, polypeptide 1, 62kDa
Band: 11p15.1
Quick LinksEntrez ID:2965; OMIM: 189972; Uniprot ID:TF2H1_HUMAN; ENSEMBL ID: ENSG00000110768; HGNC ID: 4655
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GTF2H1|2965|nucleotide
ATGGCAACCTCATCTGAAGAAGTTTTGCTGATTGTAAAGAAAGTGCGTCAAAAGAAGCAGGATGGAGCTCTGTACCTCATGGCAGAAAGAATTGCTTGGGCACCT
GAAGGCAAAGATAGATTTACAATCAGCCATATGTATGCAGATATTAAATGCCAGAAAATTAGTCCAGAAGGAAAAGCTAAAATTCAGCTTCAGCTGGTCCTACAT
GCAGGGGACACAACTAACTTCCATTTTTCCAATGAAAGCACAGCAGTGAAAGAGCGAGATGCAGTAAAAGACCTTCTTCAGCAGCTGCTGCCCAAATTCAAGAGG
AAAGCAAATAAAGAACTGGAAGAGAAGAACAGAATGCTGCAAGAAGATCCTGTTTTGTTTCAGCTTTATAAAGACCTTGTTGTGAGTCAAGTGATCAGTGCTGAG
GAATTCTGGGCCAATCGTTTAAATGTGAATGCAACAGATAGTTCTTCCACATCCAATCATAAGCAGGATGTTGGCATTTCTGCTGCATTTCTGGCTGATGTCCGG
CCCCAAACTGATGGCTGTAACGGTCTAAGATATAATTTAACTTCTGATATCATTGAGTCCATATTTAGGACCTATCCAGCAGTAAAAATGAAATATGCAGAAAAT
GTTCCCCACAACATGACAGAGAAGGAATTCTGGACACGTTTTTTCCAGTCCCATTATTTTCACAGGGATCGGCTGAATACAGGGTCAAAGGATCTCTTTGCAGAA
TGTGCCAAAATAGATGAAAAAGGCCTAAAAACAATGGTTTCATTAGGAGTGAAAAACCCACTACTAGATTTAACAGCTTTGGAAGATAAACCATTAGATGAGGGC
TATGGCATTTCCTCTGTGCCATCTGCTTCCAATTCTAAATCCATAAAAGAGAATAGTAATGCTGCCATCATCAAGAGATTTAACCATCACAGTGCCATGGTCCTG
GCAGCTGGACTCAGAAAACAAGAAGCACAAAATGAACAAACTAGTGAGCCCAGCAACATGGATGGAAATTCCGGAGATGCAGACTGCTTTCAGCCAGCAGTCAAA
AGGGCGAAATTACAAGAGTCCATTGAATATGAAGACTTGGGGAAAAATAATTCTGTAAAAACGATTGCACTAAACCTCAAGAAGTCAGATAGGTATTATCATGGT
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>GTF2H1|2965|protein
MATSSEEVLLIVKKVRQKKQDGALYLMAERIAWAPEGKDRFTISHMYADIKCQKISPEGKAKIQLQLVLHAGDTTNFHFSNESTAVKERDAVKDLLQQLLPKFKR
KANKELEEKNRMLQEDPVLFQLYKDLVVSQVISAEEFWANRLNVNATDSSSTSNHKQDVGISAAFLADVRPQTDGCNGLRYNLTSDIIESIFRTYPAVKMKYAEN
VPHNMTEKEFWTRFFQSHYFHRDRLNTGSKDLFAECAKIDEKGLKTMVSLGVKNPLLDLTALEDKPLDEGYGISSVPSASNSKSIKENSNAAIIKRFNHHSAMVL
AAGLRKQEAQNEQTSEPSNMDGNSGDADCFQPAVKRAKLQESIEYEDLGKNNSVKTIALNLKKSDRYYHGPTPIQSLQYATSQDIINSFQSIRQEMEAYTPKLTQ
VLSSSAASSTITALSPGGALMQGGTQQAINQMVPNDIQSELKHLYVAVGELLRHFWSCFPVNTPFLEEKVVKMKSNLERFQVTKLCPFQEKIRRQYLSTNLVSHI
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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 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top