AutismKB 2.0

Evidence Details for GTF2I


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Basic Information Top
Gene Symbol:GTF2I ( BAP135,BTKAP1,DIWS,FLJ38776,FLJ56355,GTFII-I,IB291,SPIN,TFII-I,WBS,WBSCR6 )
Gene Full Name: general transcription factor IIi
Band: 7q11.23
Quick LinksEntrez ID:2969; OMIM: 601679; Uniprot ID:GTF2I_HUMAN; ENSEMBL ID: ENSG00000077809; HGNC ID: 4659
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GTF2I|2969|nucleotide
ATGGCCCAAGTTGCAATGTCCACCCTCCCCGTTGAAGATGAGGAGTCCTCGGAGAGCAGGATGGTGGTGACATTCCTCATGTCAGCTCTCGAGTCCATGTGTAAA
GAACTGGCCAAGTCCAAAGCCGAAGTGGCCTGCATTGCAGTGTATGAAACAGACGTGTTTGTCGTCGGAACTGAAAGAGGACGTGCTTTTGTCAATACCAGAAAG
GATTTTCAAAAAGATTTTGTAAAATATTGTGTTGAAGAAGAAGAAAAAGCTGCAGAGATGCATAAAATGAAATCTACAACCCAGGCAAATCGGATGAGTGTAGAT
GCTGTAGAAATTGAAACACTCAGAAAAACAGTTGAGGACTATTTCTGCTTTTGCTATGGGAAAGCTTTAGGCAAATCCACAGTGGTACCTGTACCATATGAGAAG
ATGCTGCGAGACCAGTCGGCTGTGGTAGTGCAGGGGCTTCCGGAAGGTGTTGCCTTTAAACACCCCGAGAACTATGATCTTGCAACCCTGAAATGGATTTTGGAG
AACAAAGCAGGGATTTCATTCATCATTAAGAGACCTTTTTTAGAGCCAAAGAAGCATGTAGGTGGTCGTGTGATGGTAACAGATGCTGACAGGTCAATACTATCT
CCAGGTGGAAGTTGTGGCCCCATCAAAGTGAAAACTGAACCCACAGAAGATTCTGGCATTTCCCTGGAAATGGCAGCTGTGACAGTAAAGGAAGAATCAGAAGAT
CCTGATTATTATCAATATAACATTCAAGGCCCTTCTGAAACTGATGATGTTGATGAAAAACAGCCCCTATCGAAGCCTTTGCAAGGAAGCCACCATTCTTCAGAG
GGCAATGAAGGCACAGAAATGGAAGTACCAGCAGAAGATGATGATTATTCTCCACCGTCTAAGAGACCAAAGGCCAATGAGCTACCGCAGCCACCAGTCCCGGAA
CCCGCCAATGCTGGGAAGCGGAAAGTGAGGGAGTTCAACTTCGAGAAATGGAATGCTCGCATCACTGATCTACGTAAACAAGTTGAAGAATTGTTTGAAAGGAAA
TATGCTCAAGCCATAAAAGCCAAAGGTCCGGTGACGATCCCGTACCCTCTTTTCCAGTCTCATGTTGAAGATCTTTATGTAGAAGGACTTCCTGAAGGAATTCCT
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>GTF2I|2969|protein
MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEMHKMKSTTQANRMSVD
AVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGISFIIKRPFLEPKKHVGGRVMVTDADRSILS
PGGSCGPIKVKTEPTEDSGISLEMAAVTVKEESEDPDYYQYNIQGPSETDDVDEKQPLSKPLQGSHHSSEGNEGTEMEVPAEDDDYSPPSKRPKANELPQPPVPE
PANAGKRKVREFNFEKWNARITDLRKQVEELFERKYAQAIKAKGPVTIPYPLFQSHVEDLYVEGLPEGIPFRRPSTYGIPRLERILLAKERIRFVIKKHELLNST
REDLQLDKPASGVKEEWYARITKLRKMVDQLFCKKFAEALGSTEAKAVPYQKFEAHPNDLYVEGLPENIPFRSPSWYGIPRLEKIIQVGNRIKFVIKRPELLTHS
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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) 1 (5) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 14 (8)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Depienne, 2007 France STS mappingautism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders SJ, 2015 - ---ASD 2591 - - - - - -
Linkage Studies Top