AutismKB 2.0

Evidence Details for TSPO


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Basic Information Top
Gene Symbol:TSPO ( BPBS,BZRP,DBI,IBP,MBR,PBR,PBS,PKBS,PTBR,mDRC,pk18 )
Gene Full Name: translocator protein (18kDa)
Band: 22q13.2
Quick LinksEntrez ID:706; OMIM: 109610; Uniprot ID:TSPOA_HUMAN; ENSEMBL ID: ENSG00000100300; HGNC ID: 1158
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TSPO|706|nucleotide
ATGGCCCCGCCCTGGGTGCCCGCCATGGGCTTCACGCTGGCGCCCAGCCTGGGGTGCTTCGTGGGCTCCCGCTTTGTCCACGGCGAGGGTCTCCGCTGGTACGCC
GGCCTGCAGAAGCCCTCGTGGCACCCGCCCCACTGGGTGCTGGGCCCTGTCTGGGGCACGCTCTACTCAGCCATGGGGTACGGCTCCTACCTGGTCTGGAAAGAG
CTGGGAGGCTTCACAGAGAAGGCTGTGGTTCCCCTGGGCCTCTACACTGGGCAGCTGGCCCTGAACTGGGCATGGCCCCCCATCTTCTTTGGTGCCCGACAAATG
GGCTGGGCCTTGGTGGATCTCCTGCTGGTCAGTGGGGCGGCGGCAGCCACTACCGTGGCCTGGTACCAGGTGAGCCCGCTGGCCGCCCGCCTGCTCTACCCCTAC
CTGGCCTGGCTGGCCTTCACGACCACACTCAACTACTGCGTATGGCGGGACAACCATGGCTGGCGTGGGGGACGGCGGCTGCCAGAGTGA






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>TSPO|706|protein
MAPPWVPAMGFTLAPSLGCFVGSRFVHGEGLRWYAGLQKPSWHPPHWVLGPVWGTLYSAMGYGSYLVWKELGGFTEKAVVPLGLYTGQLALNWAWPPIFFGARQM
GWALVDLLLVSGAAAATTVAWYQVSPLAARLLYPYLAWLAFTTTLNYCVWRDNHGWRGGRRLPE



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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) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 4 (6)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Linkage Studies Top