AutismKB 2.0

Evidence Details for TCF7L2


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Basic Information Top
Gene Symbol:TCF7L2 ( TCF-4,TCF4 )
Gene Full Name: transcription factor 7-like 2 (T-cell specific, HMG-box)
Band: 10q25.2-q25.3
Quick LinksEntrez ID:6934; OMIM: 602228; Uniprot ID:TF7L2_HUMAN; ENSEMBL ID: ENSG00000148737; HGNC ID: 11641
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TCF7L2|6934|nucleotide
ATGCCGCAGCTGAACGGCGGTGGAGGGGATGACCTAGGCGCCAACGACGAACTGATTTCCTTCAAAGACGAGGGCGAACAGGAGGAGAAGAGCTCCGAAAACTCC
TCGGCAGAGAGGGATTTAGCTGATGTCAAATCGTCTCTAGTCAATGAATCAGAAACGAATCAAAACAGCTCCTCCGATTCCGAGGCGGAAAGACGGCCTCCGCCT
CGCTCCGAAAGTTTCCGAGACAAATCCCGGGAAAGTTTGGAAGAAGCGGCCAAGAGGCAAGATGGAGGGCTCTTTAAGGGGCCACCGTATCCCGGCTACCCCTTC
ATCATGATCCCCGACCTGACGAGCCCCTACCTCCCCAACGGATCGCTCTCGCCCACCGCCCGAACCCTCCATTTTCAGTCCGGCAGCACACATTACTCTGCGTAC
AAAACGATTGAACACCAGATTGCAGTTCAGTATCTCCAGATGAAATGGCCACTGCTTGATGTCCAGGCAGGGAGCCTCCAGAGTAGACAAGCCCTCAAGGATGCC
CGGTCCCCATCACCGGCACACATTGTCTCTAACAAAGTGCCAGTGGTGCAGCACCCTCACCATGTCCACCCCCTCACGCCTCTTATCACGTACAGCAATGAACAC
TTCACGCCGGGAAACCCACCTCCACACTTACCAGCCGACGTAGACCCCAAAACAGGAATCCCACGGCCTCCGCACCCTCCAGATATATCCCCGTATTACCCACTA
TCGCCTGGCACCGTAGGACAAATCCCCCATCCGCTAGGATGGTTAGTACCACAGCAAGGTCAACCAGTGTACCCAATCACGACAGGAGGATTCAGACACCCCTAC
CCCACAGCTCTGACCGTCAATGCTTCCATGTCCAGGTTCCCTCCCCATATGGTCCCACCACATCATACGCTACACACGACGGGCATTCCGCATCCGGCCATAGTC
ACACCAACAGTCAAACAGGAATCGTCCCAGAGTGATGTCGGCTCACTCCATAGTTCAAAGCATCAGGACTCCAAAAAGGAAGAAGAAAAGAAGAAGCCCCACATA
AAGAAACCTCTTAATGCATTCATGTTGTATATGAAGGAAATGAGAGCAAAGGTCGTAGCTGAGTGCACGTTGAAAGAAAGCGCGGCCATCAACCAGATCCTTGGG
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>TCF7L2|6934|protein
MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPYPGYPF
IMIPDLTSPYLPNGSLSPTARTLHFQSGSTHYSAYKTIEHQIAVQYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPLTPLITYSNEH
FTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIV
TPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSAR
DNYGKKKKRKRDKQPGETNDANTPKKCRALFGLDRQTLWCKPCRRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRDAKSQTEQTQPLSLSLKPDP
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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 (3) 0 (0) 0 (0) 0 (0) 0 (3)
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
O'Roak BJ, 2014 3486 - 59 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
Turner TN, 2016 53 - 27 Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DN
NGS Mosaic SNV Studies Top
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