AutismKB 2.0

Evidence Details for TCF4


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Basic Information Top
Gene Symbol:TCF4 ( E2-2,ITF2,MGC149723,MGC149724,PTHS,SEF2,SEF2-1,SEF2-1A,SEF2-1B,bHLHb19 )
Gene Full Name: transcription factor 4
Band: 18q21.2
Quick LinksEntrez ID:6925; OMIM: 602272; Uniprot ID:ITF2_HUMAN; ENSEMBL ID: ENSG00000196628; HGNC ID: 11634
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TCF4|6925|nucleotide
ATGCATCACCAACAGCGAATGGCTGCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAAT
GGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAAC
TATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAA
AGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCG
CCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAA
GTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACT
TTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCT
TCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATG
TCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCC
GGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGC
TCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGA
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>TCF4|6925|protein
MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTE
RGSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATST
FPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAA
GSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHG
IIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQD
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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 (1) 0 (0) 0 (0) 1 (1) 0 (4) 0 (0) 0 (0) 0 (0) 3 (6)
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
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top