AutismKB 2.0

Evidence Details for TACC1


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Basic Information Top
Gene Symbol:TACC1 ( DKFZp686K18126,FLJ42304,Ga55,KIAA1103 )
Gene Full Name: transforming, acidic coiled-coil containing protein 1
Band: 8p11.22
Quick LinksEntrez ID:6867; OMIM: 605301; Uniprot ID:TACC1_HUMAN; ENSEMBL ID: ENSG00000147526; HGNC ID: 11522
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TACC1|6867|nucleotide
ATGGCGTTCAGCCCGTGGCAGATCCTGTCCCCCGTGCAGTGGGCGAAATGGACGTGGTCTGCGGTACGCGGCGGGGCCGCCGGCGAGGACGAGGCTGGCGGGCCC
GAGGGCGACCCCGAGGAGGAGGATTCGCAAGCCGAGACCAAATCCTTGAGTTTCAGGAGTGGCTGTAAGGTGAAGAAGCATGAAACTCAGTCTCTCGCCCTGGAT
GCATGTTCTCGGGATGAAGGGGCAGTGATCTCCCAGATTTCAGACATTTCTAATAGGGATGGCCATGCTACTGATGAGGAGAAACTGGCATCCACGTCATGTGGT
CAGAAATCAGCTGGTGCCGAGGTGAAAGGTGAGCCAGAGGAAGACCTGGAGTACTTTGAATGTTCCAATGTTCCTGTGTCTACCATAAATCATGCGTTTTCATCC
TCAGAAGCAGGCATAGAGAAGGAGACGTGCCAGAAGATGGAAGAAGACGGGTCCACTGTGCTTGGGCTGCTGGAGTCCTCTGCAGAGAAGGCCCCTGTGTCGGTG
TCCTGTGGAGGTGAGAGCCCCCTGGATGGGATCTGCCTCAGCGAATCAGACAAGACAGCCGTGCTCACCTTAATAAGAGAAGAGATAATTACTAAAGAGATTGAA
GCAAATGAATGGAAGAAGAAATACGAAGAGACCCGGCAAGAAGTTTTGGAGATGAGGAAAATTGTAGCTGAATATGAAAAGACTATTGCTCAAATGATTGAAGAT
GAACAAAGGACAAGTATGACCTCTCAGAAGAGCTTCCAGCAACTGACCATGGAGAAGGAACAGGCCCTGGCTGACCTTAACTCTGTGGAAAGGTCCCTTTCTGAT
CTCTTCAGGAGATATGAGAACCTGAAAGGTGTTCTGGAAGGGTTCAAGAAGAATGAAGAAGCCTTGAAGAAATGTGCTCAGGATTACTTAGCCAGAGTTAAACAA
GAGGAGCAGCGATACCAGGCCCTGAAAATCCACGCAGAAGAGAAACTGGACAAAGCCAATGAAGAGATTGCTCAGGTTCGAACAAAAGCAAAGGCTGAGAGTGCA
GCTCTCCATGCTGGACTCCGCAAAGAGCAGATGAAGGTGGAGTCCCTGGAAAGGGCCCTGCAGCAGAAGAACCAAGAAATTGAAGAACTGACAAAAATCTGTGAT
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>TACC1|6867|protein
MAFSPWQILSPVQWAKWTWSAVRGGAAGEDEAGGPEGDPEEEDSQAETKSLSFRSGCKVKKHETQSLALDACSRDEGAVISQISDISNRDGHATDEEKLASTSCG
QKSAGAEVKGEPEEDLEYFECSNVPVSTINHAFSSSEAGIEKETCQKMEEDGSTVLGLLESSAEKAPVSVSCGGESPLDGICLSESDKTAVLTLIREEIITKEIE
ANEWKKKYEETRQEVLEMRKIVAEYEKTIAQMIEDEQRTSMTSQKSFQQLTMEKEQALADLNSVERSLSDLFRRYENLKGVLEGFKKNEEALKKCAQDYLARVKQ
EEQRYQALKIHAEEKLDKANEEIAQVRTKAKAESAALHAGLRKEQMKVESLERALQQKNQEIEELTKICDELIAKLGKTD

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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 (0) 0 (0) 0 (0) 0 (1)
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.
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