AutismKB 2.0

Evidence Details for GTPBP5


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Basic Information Top
Gene Symbol:GTPBP5 ( FLJ10741,MGC29512,ObgH1,dJ1005F21.2 )
Gene Full Name: GTP binding protein 5 (putative)
Band: 20q13.33
Quick LinksEntrez ID:26164; OMIM: 610919; Uniprot ID:GTPB5_HUMAN; ENSEMBL ID: ENSG00000101181; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GTPBP5|26164|nucleotide
ATGGCACCTGCAAGGTGTTTCTCAGCAAGATTGAGGACCGTGTTTCAGGGCGTGGGGCATTGGGCTTTGTCCACATGGGCTGGCCTGAAGCCCAGCCGGCTACTG
CCACAGCGGGCTTCTCCCAGGCTGCTCTCGGTCGGCCGTGCGGACCTCGCCAAGCATCAGGAACTCCCGGGGAAGAAGCTGCTCTCTGAGAAAAAGCTGAAAAGG
TACTTTGTGGACTATCGGAGAGTGCTTGTCTGTGGAGGAAACGGAGGCGCTGGGGCAAGCTGCTTCCACAGTGAGCCCCGCAAGGAGTTTGGAGGCCCTGATGGA
GGGGACGGAGGCAACGGTGGACACGTCATTCTGAGAGTTGACCAGCAAGTCAAGTCCCTGTCGTCGGTCCTGTCGCGGTACCAGGGTTTCAGTGGAGAAGATGGA
GGGAGTAAAAACTGCTTCGGGCGCAGTGGCGCCGTCCTCTACATCCGGGTCCCCGTGGGCACGCTGGTGAAGGAGGGAGGCAGAGTTGTGGCCGACCTGTCTTGC
GTGGGAGATGAGTACATTGCCGCGCTGGGCGGGGCAGGAGGGAAAGGCAACCGCTTCTTCCTGGCCAACAACAACCGTGCCCCTGTGACCTGTACCCCTGGACAG
CCAGGACAGCAGCGAGTTCTCCACCTGGAGCTCAAGACGGTGGCCCACGCCGGAATGGTGGGATTCCCCAACGCCGGGAAGTCCTCACTGCTCCGGGCCATTTCA
AACGCCAGACCCGCCGTGGCTTCCTACCCGTTCACCACCCTGAAGCCCCACGTCGGGATCGTCCACTACGAAGGCCACCTACAAATAGCAGTGGCCGACATCCCC
GGCATCATACGAGGCGCCCACCAGAACAGGGGTCTGGGGTCCGCCTTCCTCAGGCACATCGAGCGCTGCCGCTTTCTCTTGTTCGTGGTGGATCTTTCTCAGCCT
GAGCCGTGGACTCAAGTTGACGATTTAAAATATGAACTGGAGATGTATGAAAAGGGCCTGTCTGCGAGGCCCCACGCAATCGTCGCAAACAAGATTGACCTCCCT
GAAGCCCAAGCCAATCTGTCCCAGCTCCGGGATCACTTGGGACAGGAGGTCATCGTGCTGTCGGCGTTGACCGGCGAGAACCTGGAGCAGCTGCTGTTGCACCTG
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>GTPBP5|26164|protein
MAPARCFSARLRTVFQGVGHWALSTWAGLKPSRLLPQRASPRLLSVGRADLAKHQELPGKKLLSEKKLKRYFVDYRRVLVCGGNGGAGASCFHSEPRKEFGGPDG
GDGGNGGHVILRVDQQVKSLSSVLSRYQGFSGEDGGSKNCFGRSGAVLYIRVPVGTLVKEGGRVVADLSCVGDEYIAALGGAGGKGNRFFLANNNRAPVTCTPGQ
PGQQRVLHLELKTVAHAGMVGFPNAGKSSLLRAISNARPAVASYPFTTLKPHVGIVHYEGHLQIAVADIPGIIRGAHQNRGLGSAFLRHIERCRFLLFVVDLSQP
EPWTQVDDLKYELEMYEKGLSARPHAIVANKIDLPEAQANLSQLRDHLGQEVIVLSALTGENLEQLLLHLKVLYDAYAEAELGQGRQPLRW

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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (2)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top