AutismKB 2.0

Evidence Details for TUBGCP4


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Basic Information Top
Gene Symbol:TUBGCP4 ( 76P,FLJ14797,GCP4 )
Gene Full Name: tubulin, gamma complex associated protein 4
Band: 15q15.3
Quick LinksEntrez ID:27229; OMIM: 609610; Uniprot ID:GCP4_HUMAN; ENSEMBL ID: ENSG00000137822; HGNC ID: 16691
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TUBGCP4|27229|nucleotide
ATGATCCACGAACTGCTCTTGGCTCTGAGCGGGTACCCTGGGTCCATTTTCACCTGGAACAAGCGGAGTGGCCTGCAGGTATCGCAGGACTTCCCTTTCCTCCAC
CCCAGTGAGACCAGTGTCCTGAATCGACTCTGCCGGCTCGGCACAGACTATATTCGCTTCACTGAGTTCATTGAACAGTACACGGGCCATGTGCAACAGCAGGAT
CACCATCCATCTCAACAGGGCCAAGGTGGGTTACATGGAATCTACCTGCGGGCCTTCTGCACAGGGCTGGATTCTGTTTTGCAGCCTTATCGCCAAGCACTGCTT
GATTTGGAACAAGAGTTCCTGGGTGATCCCCATCTCTCCATATCACATGTCAACTACTTCCTAGACCAGTTCCAGCTTCTTTTTCCCTCTGTGATGGTTGTAGTA
GAACAAATTAAAAGTCAAAAGATTCATGGTTGTCAAATCCTGGAAACAGTCTACAAACACAGCTGTGGGGGGTTGCCTCCTGTTCGAAGTGCACTGGAAAAAATC
CTGGCCGTTTGTCATGGGGTCATGTATAAACAGCTCTCAGCCTGGATGCTCCATGGACTCCTCTTGGACCAGCATGAAGAATTCTTTATCAAACAGGGGCCATCT
TCTGGTAATGTCAGTGCCCAGCCAGAAGAGGACGAGGAGGATCTGGGCATTGGGGGACTGACAGGAAAACAACTGAGAGAACTGCAGGACTTGCGCCTGATTGAG
GAAGAGAACATGCTGGCACCATCTCTGAAGCAGTTTTCCCTACGAGTGGAGATTTTGCCATCCTACATTCCAGTGAGGGTTGCTGAAAAAATCCTATTTGTTGGA
GAATCTGTCCAGATGTTTGAGAATCAAAATGTGAACCTGACTAGAAAAGGATCCATTTTGAAAAACCAGGAAGACACTTTTGCTGCAGAGCTGCACCGTCTCAAG
CAGCAGCCACTCTTCAGCTTGGTGGACTTTGAACAGGTGGTGGATCGCATTCGCAGCACTGTGGCTGAGCATCTCTGGAAGTTGATGGTAGAAGAATCCGATTTA
CTGGGTCAGCTGAAGATCATTAAAGACTTTTACCTTCTGGGACGTGGAGAACTGTTTCAGGCCTTCATTGACACAGCTCAACACATGTTGAAAACACCACCCACT
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>TUBGCP4|27229|protein
MIHELLLALSGYPGSIFTWNKRSGLQVSQDFPFLHPSETSVLNRLCRLGTDYIRFTEFIEQYTGHVQQQDHHPSQQGQGGLHGIYLRAFCTGLDSVLQPYRQALL
DLEQEFLGDPHLSISHVNYFLDQFQLLFPSVMVVVEQIKSQKIHGCQILETVYKHSCGGLPPVRSALEKILAVCHGVMYKQLSAWMLHGLLLDQHEEFFIKQGPS
SGNVSAQPEEDEEDLGIGGLTGKQLRELQDLRLIEEENMLAPSLKQFSLRVEILPSYIPVRVAEKILFVGESVQMFENQNVNLTRKGSILKNQEDTFAAELHRLK
QQPLFSLVDFEQVVDRIRSTVAEHLWKLMVEESDLLGQLKIIKDFYLLGRGELFQAFIDTAQHMLKTPPTAVTEHDVNVAFQQSAHKVLLDDDNLLPLLHLTIEY
HGKEHKDATQAREGPSRETSPREAPASGWAALGLSYKVQWPLHILFTPAVLEKYNVVFKYLLSVRRVQAELQHCWALQMQRKHLKSNQTDAIKWRLRNHMAFLVD
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
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
O'Roak BJ, 2014 3486 - 59 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
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