AutismKB 2.0

Evidence Details for TUBGCP2


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Basic Information Top
Gene Symbol:TUBGCP2 ( GCP2,MGC138162,SPBC97,Spc97p )
Gene Full Name: tubulin, gamma complex associated protein 2
Band: 10q26.3
Quick LinksEntrez ID:10844; OMIM: NA; Uniprot ID:GCP2_HUMAN; ENSEMBL ID: ENSG00000130640; HGNC ID: 18599
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TUBGCP2|10844|nucleotide
ATGAGTGAATTTCGGATTCACCATGACGTCAATGAACTGCTTAGCCTGCTGCGTGTCCACGGAGGAGATGGGGCTGAGGTCTACATTGACCTGCTTCAAAAGAAC
AGGACCCCGTACGTCACTACCACTGTCTCTGCTCACAGTGCCAAGGTTAAAATTGCAGAGTTTTCTCGTACTCCAGAAGACTTTCTAAAGAAATATGATGAACTG
AAATCTAAAAATACAAGGAACCTTGACCCGCTGGTGTACCTGTTGTCAAAGCTCACGGAAGACAAAGAGACTCTGCAGTACTTACAACAGAATGCAAAAGAAAGA
GCTGAGCTTGCAGCCGCTGCTGTGGGCAGCAGTACCACCAGCATCAACGTCCCTGCCGCGGCCTCCAAGATCTCCATGCAGGAGCTTGAGGAACTGAGGAAGCAG
CTTGGCAGCGTGGCCACAGGCTCCACGCTGCAGCAGTCTCTGGAACTTAAAAGAAAGATGCTTCGAGACAAGCAGAACAAAAAAAATTCAGGCCAGCACCTCCCC
ATCTTCCCAGCATGGGTGTATGAGAGACCTGCCCTGATCGGGGATTTCCTGATTGGTGCTGGCATCAGCACAGACACCGCTTTGCCGATAGGCACGTTGCCCCTG
GCCTCGCAGGAGTCGGCCGTGGTGGAGGACCTGCTGTACGTGCTGGTGGGCGTGGACGGGAGGTACGTCAGTGCTCAGCCCCTGGCTGGGAGGCAGAGCCGGACC
TTCCTCGTGGACCCCAACCTGGACCTGTCCATCAGGGAGCTGGTGCACAGGATCCTCCCAGTGGCCGCCAGCTACTCCGCTGTGACCAGGTTCATTGAAGAGAAG
TCTTCCTTCGAGTACGGGCAGGTGAACCACGCCCTGGCGGCCGCCATGCGCACCCTGGTGAAGGAGCACCTGATTCTGGTGTCACAGCTGGAGCAGCTGCACAGG
CAGGGCCTCCTTTCGCTGCAGAAGCTCTGGTTCTACATCCAGCCAGCCATGCGCACCATGGACATCCTGGCCTCCCTCGCCACCTCGGTGGACAAAGGCGAATGT
CTTGGGGGGTCCACGCTGAGCCTGCTCCACGACAGGAGCTTCAGCTACACAGGGGACAGCCAGGCGCAGGAGCTATGCCTGTACCTAACCAAGGCGGCCAGTGCT
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>TUBGCP2|10844|protein
MSEFRIHHDVNELLSLLRVHGGDGAEVYIDLLQKNRTPYVTTTVSAHSAKVKIAEFSRTPEDFLKKYDELKSKNTRNLDPLVYLLSKLTEDKETLQYLQQNAKER
AELAAAAVGSSTTSINVPAAASKISMQELEELRKQLGSVATGSTLQQSLELKRKMLRDKQNKKNSGQHLPIFPAWVYERPALIGDFLIGAGISTDTALPIGTLPL
ASQESAVVEDLLYVLVGVDGRYVSAQPLAGRQSRTFLVDPNLDLSIRELVHRILPVAASYSAVTRFIEEKSSFEYGQVNHALAAAMRTLVKEHLILVSQLEQLHR
QGLLSLQKLWFYIQPAMRTMDILASLATSVDKGECLGGSTLSLLHDRSFSYTGDSQAQELCLYLTKAASAPYFEVLEKWIYRGIIHDPYSEFMVEEHELRKERIQ
EDYNDKYWDQRYTIVQQQIPSFLQKMADKILSTGKYLNVVRECGHDVTCPVAKEIIYTLKERAYVEQIEKAFNYASKVLLDFLMEEKELVAHLRSIKRYFLMDQG
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top