AutismKB 2.0

Evidence Details for TBC1D5


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Basic Information Top
Gene Symbol:TBC1D5 ( KIAA0210 )
Gene Full Name: TBC1 domain family, member 5
Band: 3p24.3
Quick LinksEntrez ID:9779; OMIM: NA; Uniprot ID:TBCD5_HUMAN; ENSEMBL ID: ENSG00000131374; HGNC ID: 19166
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TBC1D5|9779|nucleotide
ATGTATCATTCCTTATCTGAAACTAGACATCCTCTGCAGCCAGAAGAACAAGAAGTAGGCATTGACCCCTTGTCCAGTTACTCTAACAAGTCTGGAGGAGATTCA
AATAAAAATGGAAGAAGAACAAGTTCTACTTTAGACTCTGAAGGGACTTTTAATTCCTATAGGAAAGAATGGGAAGAACTATTTGTAAACAACAATTACTTGGCA
ACAATAAGGCAGAAGGGGATTAATGGGCAGCTGAGAAGCAGCAGGTTCCGCAGCATTTGCTGGAAGCTATTTCTTTGTGTTCTTCCTCAAGACAAAAGTCAATGG
ATAAGTAGAATTGAAGAATTAAGAGCATGGTATAGCAACATTAAAGAAATACATATTACCAACCCGAGGAAGGTTGTTGGCCAACAAGATTTGATGATCAATAAT
CCTCTTTCACAGGATGAAGGGAGTCTTTGGAACAAATTCTTCCAAGATAAAGAACTTCGATCAATGATTGAACAAGATGTCAAAAGAACGTTTCCTGAAATGCAG
TTTTTCCAGCAAGAAAATGTGAGAAAAATTCTTACAGATGTTCTTTTCTGTTATGCCAGAGAAAACGAGCAGTTGCTTTATAAACAGGGCATGCACGAACTGTTA
GCACCTATAGTCTTTGTCCTTCACTGTGACCACCAAGCTTTTCTACATGCCAGTGAGTCTGCACAGCCCAGTGAGGAAATGAAAACTGTCTTGAACCCTGAGTAT
CTGGAACATGATGCCTATGCAGTGTTCTCACAACTTATGGAAACTGCTGAACCTTGGTTTTCAACTTTTGAGCATGATGGTCAGAAGGGGAAAGAAACACTGATG
ACTCCCATTCCCTTTGCTAGACCACAAGATTTAGGGCCAACAATTGCTATTGTTACTAAAGTCAACCAGATCCAGGATCATCTACTGAAGAAGCATGATATTGAG
CTTTACATGCACTTGAACAGACTAGAAATTGCACCACAGATATATGGGTTAAGGTGGGTGCGGCTGCTATTTGGACGAGAGTTCCCCCTGCAGGACCTTCTGGTG
GTCTGGGATGCCTTGTTTGCAGACGGCCTCAGCCTGGGTTTAGTAGATTATATCTTCGTAGCCATGTTACTTTACATCCGAGATGCTTTGATCTCTAGTAACTAC
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>TBC1D5|9779|protein
MYHSLSETRHPLQPEEQEVGIDPLSSYSNKSGGDSNKNGRRTSSTLDSEGTFNSYRKEWEELFVNNNYLATIRQKGINGQLRSSRFRSICWKLFLCVLPQDKSQW
ISRIEELRAWYSNIKEIHITNPRKVVGQQDLMINNPLSQDEGSLWNKFFQDKELRSMIEQDVKRTFPEMQFFQQENVRKILTDVLFCYARENEQLLYKQGMHELL
APIVFVLHCDHQAFLHASESAQPSEEMKTVLNPEYLEHDAYAVFSQLMETAEPWFSTFEHDGQKGKETLMTPIPFARPQDLGPTIAIVTKVNQIQDHLLKKHDIE
LYMHLNRLEIAPQIYGLRWVRLLFGREFPLQDLLVVWDALFADGLSLGLVDYIFVAMLLYIRDALISSNYQTCLGLLMHYPFIGDVHSLILKALFLRDPKRNPRP
VTYQFHPNLDYYKARGADLMNKSRTNAKGAPLNINKVSNSLINFGRKLISPAMAPGSAGGPVPGGNSSSSSSVVIPTRTSAEAPSHHLQQQQQQQRLMKSESMPV
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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 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top