AutismKB 2.0

Evidence Details for GTF3C1


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Basic Information Top
Gene Symbol:GTF3C1 ( DKFZp686A111,TFIIIC,TFIIIC220,TFIIICalpha )
Gene Full Name: general transcription factor IIIC, polypeptide 1, alpha 220kDa
Band: 16p12.1
Quick LinksEntrez ID:2975; OMIM: 603246; Uniprot ID:TF3C1_HUMAN; ENSEMBL ID: ENSG00000077235; HGNC ID: 4664
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GTF3C1|2975|nucleotide
ATGGACGCGCTGGAGTCGTTGTTGGACGAAGTCGCTCTGGAGGGGCTCGATGGCCTGTGTCTGCCAGCGCTGTGGAGCCGGCTGGAGACGCGAGTGCCGCCCTTC
CCGCTGCCTTTGGAACCCTGCACGCAGGAGTTTCTCTGGCGGGCCCTCGCCACGCACCCGGGCATCAGCTTCTATGAGGAGCCTCGGGAGCGACCCGACCTACAG
CTCCAGGACCGGTATGAAGAAATTGATTTGGAAACTGGAATTTTGGAGTCTAGGAGGGACCCGGTGGCTTTGGAGGATGTCTACCCCATTCATATGATCTTAGAG
AATAAGGATGGCATCCAGGGCTCATGCCGCTACTTTAAGGAGAGGAAAAACATTACCAATGACATCAGAACCAAGTCCTTGCAGCCTCGCTGTACAATGGTGGAA
GCCTTTGACAGGTGGGGGAAGAAACTGATCATCGTTGCCTCCCAGGCCATGCGGTACAGGGCCTTGATAGGCCAGGAGGGGGATCCCGACCTGAAGCTGCCCGAC
TTCTCCTACTGCATCCTGGAACGGCTAGGCCGGTCCAGGTGGCAAGGGGAGCTCCAGCGAGACCTTCACACCACTGCTTTCAAGGTTGATGCTGGGAAGCTGCAC
TATCACAGAAAAATTTTGAACAAAAACGGGCTGATTACAATGCAGTCCCATGTGATCCGATTACCCACTGGAGCCCAGCAACACTCAATCCTCCTCCTACTGAAC
CGGTTTCATGTGGACAGGAGGAGCAAATACGACATCCTCATGGAGAAGCTTTCGGTCATGCTGAGCACACGGACTAACCACATAGAGACGCTGGGAAAGCTGAGG
GAAGAGCTGGGGCTGTGCGAAAGGACGTTTAAGCGTCTGTACCAGTATATGCTGAACGCCGGGCTAGCCAAGGTGGTGTCTCTTCGCTTGCAAGAGATCCACCCT
GAATGTGGACCTTGTAAGACAAAGAAAGGGACCGACGTCATGGTTCGGTGCCTCAAGCTGCTGAAGGAATTTAAACGGAATGACCATGATGATGACGAGGACGAG
GAGGTCATCTCCAAGACAGTGCCTCCAGTGGACATTGTGTTCGAGCGGGATATGCTCACACAGACCTACGACCTCATTGAGCGCAGAGGCACGAAAGGAATTTCC
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>GTF3C1|2975|protein
MDALESLLDEVALEGLDGLCLPALWSRLETRVPPFPLPLEPCTQEFLWRALATHPGISFYEEPRERPDLQLQDRYEEIDLETGILESRRDPVALEDVYPIHMILE
NKDGIQGSCRYFKERKNITNDIRTKSLQPRCTMVEAFDRWGKKLIIVASQAMRYRALIGQEGDPDLKLPDFSYCILERLGRSRWQGELQRDLHTTAFKVDAGKLH
YHRKILNKNGLITMQSHVIRLPTGAQQHSILLLLNRFHVDRRSKYDILMEKLSVMLSTRTNHIETLGKLREELGLCERTFKRLYQYMLNAGLAKVVSLRLQEIHP
ECGPCKTKKGTDVMVRCLKLLKEFKRNDHDDDEDEEVISKTVPPVDIVFERDMLTQTYDLIERRGTKGISQAEIRVAMNVGKLEARMLCRLLQRFKVVKGFMEDE
GRQRTTKYISCVFAEESDLSRQYQREKARSELLTTVSLASMQEESLLPEGEDTFLSESDSEEERSSSKRRGRGSQKDTRASANLRPKTQPHHSTPTKGGWKVVNL
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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 (1) 0 (1) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top