AutismKB 2.0

Evidence Details for TBC1D4


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Basic Information Top
Gene Symbol:TBC1D4 ( AS160,DKFZp779C0666 )
Gene Full Name: TBC1 domain family, member 4
Band: 13q22.2
Quick LinksEntrez ID:9882; OMIM: 612465; Uniprot ID:TBCD4_HUMAN; ENSEMBL ID: ENSG00000136111; HGNC ID: 19165
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TBC1D4|9882|nucleotide
ATGGAGCCGCCCAGCTGCATTCAGGATGAGCCGTTCCCGCACCCCCTGGAGCCCGAGCCGGGCGTCTCAGCTCAGCCCGGCCCCGGGAAGCCAAGCGATAAGCGG
TTCCGGCTGTGGTACGTTGGGGGGTCGTGCCTGGACCACAGGACCACGCTGCCTATGCTGCCCTGGCTCATGGCCGAGATCCGCAGGCGCAGCCAGAAGCCCGAG
GCGGGCGGCTGCGGGGCGCCGGCGGCCCGAGAGGTGATCCTGGTGCTCAGCGCGCCCTTCCTGCGTTGCGTCCCCGCGCCGGGCGCTGGGGCCTCGGGGGGCACT
AGTCCGTCGGCCACGCAGCCCAACCCGGCGGTATTCATCTTCGAGCACAAGGCGCAGCATATCTCGCGCTTCATCCACAACAGCCACGACCTCACCTACTTTGCC
TACCTGATCAAGGCGCAGCCCGACGACCCCGAGTCGCAGATGGCCTGCCACGTTTTCCGCGCCACAGACCCCAGCCAGGTTCCTGATGTTATTAGCAGCATAAGG
CAATTATCTAAAGCGGCCATGAAAGAGGATGCCAAACCCAGCAAAGATAATGAGGACGCCTTTTACAACTCTCAGAAGTTCGAAGTCCTGTACTGTGGAAAGGTG
ACCGTGACCCACAAGAAGGCCCCCTCAAGCCTCATCGATGACTGCATGGAGAAGTTCAGCCTGCACGAACAGCAGCGCCTGAAGATCCAAGGGGAGCAGCGCGGT
CCGGACCCAGGAGAGGACCTGGCTGACTTGGAGGTGGTGGTGCCCGGGTCCCCCGGAGACTGCCTGCCGGAGGAGGCTGACGGCACCGACACCCACCTTGGCTTA
CCTGCCGGGGCCAGCCAGCCTGCCCTGACCAGCTCTCGGGTCTGCTTCCCTGAGCGGATTTTGGAAGATTCTGGCTTTGATGAGCAGCAGGAGTTTCGGTCTCGG
TGCAGCAGTGTCACCGGCGTGCAACGGAGAGTTCACGAGGGCAGCCAGAAATCCCAGCCGCGACGGAGACACGCGAGCGCACCCAGTCACGTCCAGCCCTCGGAC
TCGGAGAAGAACAGGACCATGCTCTTCCAGGTTGGGCGATTTGAGATTAACCTTATCAGTCCAGACACTAAATCAGTTGTGCTAGAAAAGAATTTTAAAGATATC
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>TBC1D4|9882|protein
MEPPSCIQDEPFPHPLEPEPGVSAQPGPGKPSDKRFRLWYVGGSCLDHRTTLPMLPWLMAEIRRRSQKPEAGGCGAPAAREVILVLSAPFLRCVPAPGAGASGGT
SPSATQPNPAVFIFEHKAQHISRFIHNSHDLTYFAYLIKAQPDDPESQMACHVFRATDPSQVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKFEVLYCGKV
TVTHKKAPSSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSSRVCFPERILEDSGFDEQQEFRSR
CSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQC
ASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLYPPRAKLVIQRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAK
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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) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top