AutismKB 2.0

Evidence Details for TANC2


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Basic Information Top
Gene Symbol:TANC2 ( DKFZp564D166,FLJ10215,FLJ11824,KIAA1148,KIAA1636,ROLSA,rols )
Gene Full Name: tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
Band: 17q23.2-q23.3
Quick LinksEntrez ID:26115; OMIM: NA; Uniprot ID:TANC2_HUMAN; ENSEMBL ID: ENSG00000170921; HGNC ID: 30212
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TANC2|26115|nucleotide
ATGTTTCGGAATAGTCTCAAGATGCTGCTTACTGGTGGGAAATCAAGTCGTAAAAACAGGTCAAGTGATGGAGGGAGCGAGGAACCACCGGATCGAAGACAGTCA
AGTGTAGACTCTCGCCAAAGCCGCTCTGGGCAAGGTGGCATCTCCACAGAAAGCGACTGTGCTTTTGAGCCAGACTACGCTGTCCCGCCACTTCCAGTGAGTGAA
GGTGATGCTGAACAGGAGCTTGGCCCCCCTCCATCTGTAGATGAGGCAGCAAACACACTCATGACTCGTCTGGGTTTCCTCCTTGGAGAGAAAGTCACAGAAGTT
CAGCCAGGTGACCAATACAGCATGGAAGTACAGGATGAAAATCAGACCTCAGCAATCACCCAGCGGATAAGTCCTTGTTCCACTCTGACTAGCAGCACTGCCTCT
CCACCAGCCAGTAGCCCCTGCTCTACACTCCCACCCATCAGTACAAATGCAACTGCCAAGGACTGCAGCTATGGGGCTGTTACTAGTCCAACCTCTACCCTTGAA
AGCAGAGATAGTGGCATCATTGCTACATTAACAAGCTATTCTGAAAATGTGGAACGCACAAAATATGCTGGGGAAAGCAGTAAAGAATTAGGATCTGGAGGAAAC
ATAAAACCTTGGCAGTCTCAAAAATCCAGCATGGACTCCTGTTTGTATCGAGTAGATGAAAACATGACTGCTTCCACCTATAGTCTGAATAAGATCCCAGAGAGA
AATTTGGAAACAGTGTTATCTCAATCAGTACAGTCTATTCCTTTGTATCTCATGCCACGGCCAAATTCAGTAGCAGCCACCAGCTCTGCCCACTTGGAAGACCTT
GCTTACCTGGATGAGCAGAGACATACACCTTTGAGAACTTCTCTACGAATGCCAAGACAGAGCATGGGTGGTGCTCGCACACAGCAGGATTTAAGAGTTCGCTTT
GCACCTTATAGGCCTCCAGATATCTCCTTGAAGCCTCTGCTCTTTGAAGTGCCCAGCATCACTACAGAGTCAGTGTTTGTTGGCCGAGATTGGGTTTTCCACGAA
ATAGATGCTCAACTTCAAAGTTCAAATGCCAGCGTGAACCAAGGAGTAGTGATTGTGGGAAACATTGGATTCGGCAAAACTGCCATCATCTCCAGACTGGTGGCC
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>TANC2|26115|protein
MFRNSLKMLLTGGKSSRKNRSSDGGSEEPPDRRQSSVDSRQSRSGQGGISTESDCAFEPDYAVPPLPVSEGDAEQELGPPPSVDEAANTLMTRLGFLLGEKVTEV
QPGDQYSMEVQDENQTSAITQRISPCSTLTSSTASPPASSPCSTLPPISTNATAKDCSYGAVTSPTSTLESRDSGIIATLTSYSENVERTKYAGESSKELGSGGN
IKPWQSQKSSMDSCLYRVDENMTASTYSLNKIPERNLETVLSQSVQSIPLYLMPRPNSVAATSSAHLEDLAYLDEQRHTPLRTSLRMPRQSMGGARTQQDLRVRF
APYRPPDISLKPLLFEVPSITTESVFVGRDWVFHEIDAQLQSSNASVNQGVVIVGNIGFGKTAIISRLVALSCHGTRMRQIASDSPHASPKHVDANRELPLTQPP
SAHSSITSGSCPGTPEMRRRQEEAMRRLASQVVAYHYCQADNAYTCLVPEFVHNVAALLCRSPQLTAYREQLLREPHLQSMLSLRSCVQDPMASFRRGVLEPLEN
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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 (2) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (4)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
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
Stessman HA, 2017 6342 - 74 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development
Liu Y, 2018 - 300 4 A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Stu
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