AutismKB 2.0

Evidence Details for TCF7L1


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Basic Information Top
Gene Symbol:TCF7L1 ( TCF-3,TCF3 )
Gene Full Name: transcription factor 7-like 1 (T-cell specific, HMG-box)
Band: 2p11.2
Quick LinksEntrez ID:83439; OMIM: 604652; Uniprot ID:TF7L1_HUMAN; ENSEMBL ID: ENSG00000152284; HGNC ID: 11640
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TCF7L1|83439|nucleotide
ATGCCCCAGCTCGGCGGCGGGGGCGGCGGCGGCGGCGGCGGCAGCGGGGGAGGCGGCGGCTCCAGCGCCGGGGCGGCCGGCGGAGGGGACGACCTCGGGGCGAAC
GACGAGCTGATCCCCTTCCAGGACGAGGGGGGCGAGGAGCAGGAGCCGAGCAGCGATAGCGCCTCGGCGCAGCGGGACCTAGACGAGGTCAAGTCGTCCCTGGTC
AACGAGTCGGAGAACCAGAGCAGCAGCTCGGACTCGGAGGCGGAGAGGCGCCCGCAGCCCGTCCGGGACACTTTCCAGAAGCCGCGGGACTATTTCGCCGAAGTG
AGAAGGCCTCAGGACAGCGCGTTCTTTAAAGGACCCCCGTACCCTGGGTACCCCTTCCTGATGATCCCGGACCTGAGCAGCCCGTACCTCTCCAACGGACCCCTG
TCTCCCGGAGGAGCGCGCACCTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTG
TCTAATAAAGTTCCTGTCGTTCAGCACCCGCATCACATGCATCCGCTGACTCCCCTCATCACCTACAGCAATGACCACTTCTCCCCCGGCTCCCCTCCCACCCAC
CTCTCCCCAGAGATCGATCCAAAGACAGGAATCCCCCGGCCCCCTCACCCATCCGAGCTGTCACCGTATTACCCACTCTCTCCCGGAGCTGTCGGACAAATCCCC
CACCCCCTCGGCTGGCTCGTCCCACAGCAAGGCCAGCCCATGTACTCCCTTCCTCCCGGTGGCTTCCGGCACCCTTACCCCGCCCTCGCCATGAACGCCTCGATG
TCCAGCCTGGTCTCCAGTCGGTTCTCTCCTCACATGGTGGCTCCTGCCCACCCTGGCCTGCCCACCTCAGGGATCCCCCACCCTGCCATCGTCTCCCCCATCGTC
AAGCAGGAACCGGCACCCCCCAGCCTGAGCCCTGCAGTGAGCGTGAAATCACCAGTCACCGTGAAAAAGGAGGAGGAAAAGAAGCCCCACGTGAAGAAGCCTCTG
AATGCCTTCATGTTGTATATGAAGGAGATGAGGGCCAAGGTGGTGGCTGAGTGCACCCTGAAGGAAAGTGCAGCCATTAACCAGATCCTTGGAAGAAAGTGGCAC
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>TCF7L1|83439|protein
MPQLGGGGGGGGGGSGGGGGSSAGAAGGGDDLGANDELIPFQDEGGEEQEPSSDSASAQRDLDEVKSSLVNESENQSSSSDSEAERRPQPVRDTFQKPRDYFAEV
RRPQDSAFFKGPPYPGYPFLMIPDLSSPYLSNGPLSPGGARTYLQMKWPLLDVPSSATVKDTRSPSPAHLSNKVPVVQHPHHMHPLTPLITYSNDHFSPGSPPTH
LSPEIDPKTGIPRPPHPSELSPYYPLSPGAVGQIPHPLGWLVPQQGQPMYSLPPGGFRHPYPALAMNASMSSLVSSRFSPHMVAPAHPGLPTSGIPHPAIVSPIV
KQEPAPPSLSPAVSVKSPVTVKKEEEKKPHVKKPLNAFMLYMKEMRAKVVAECTLKESAAINQILGRKWHNLSREEQAKYYELARKERQLHSQLYPTWSARDNYG
KKKKRKREKQLSQTQSQQQVQEAEGALASKSKKPCVQYLPPEKPCDSPASSHGSMLDSPATPSAALASPAAPAATHSEQAQPLSLTTKPETRAQLALHSAAFLSA
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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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018