AutismKB 2.0

Evidence Details for GTPBP6


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Basic Information Top
Gene Symbol:GTPBP6 ( FLJ20977,FLJ22809,FLJ56662,FLJ56805,FLJ90047,PGPL )
Gene Full Name: GTP binding protein 6 (putative)
Band: Xp22.33 and Yp11.32
Quick LinksEntrez ID:8225; OMIM: 300124; Uniprot ID:GTPB6_HUMAN; ENSEMBL ID: ENSG00000178605; HGNC ID: 30189
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GTPBP6|8225|nucleotide
ATGTGGGCCCTGCGGGCCGCCGTACGCCCGGGGCTGCGGCTCTCCCGCGTGGGCCGCGGCCGCTCGGCTCCGCGGGCAGCCGCGCCGTCCTGCCCCGCGCGCGCG
CTAGCCGCTGTCGGCCGCAGGAGCCCCGGGAATCTGGAGGGGCCGTGGGGCGGAGGGCGGGGCCTGCGGGCGGACGGCGGCCGAAGCCGCACGGGAGACGACGAG
GAGGAGCCGGAAGATGCGGACGAGAACGCCGAGGAGGAGCTGCTGCGGGGAGAGCCTCTGCTGCCGGCGGGGACCCAGCGCGTGTGTCTGGTTCACCCTGACGTC
AAGTGGGGCCCGGGGAAGTCGCAGATGACTCGAGCCGAGTGGCAGGTGGCGGAGGCCACAGCGCTGGTGCACACGCTGGACGGCTGGTCCGTGGTGCAGACAATG
GTCGTGTCCACCAAAACGCCGGACAGGAAGCTCATCTTTGGCAAAGGGAACTTTGAGCACCTGACAGAAAAGATCCGAGGGTCTCCAGACGTCACGTGCGTCTTC
CTGAACGTGGAGAGGATGGCTGCCCCGACCAAGAAAGAACTGGAAGCCGCCTGGGGCGTGGAGGTGTTTGACCGCTTCACGGTCGTCCTGCACATCTTCCGCTGT
AACGCCCGCACGAAGGAGGCCCGGCTTCAGGTGGCCCTGGCGGAGATGCCGCTGCACAGGTCGAACTTGAAAAGGGACGTCGCCCACCTGTACCGAGGAGTCGGC
TCGCGCTACATCATGGGGTCAGGAGAATCCTTCATGCAGCTGCAGCAGCGTCTCCTGAGAGAGAAGGAGGCCAAGATCAGGAAGGCCTTGGACAGGCTTCGCAAG
AAGAGGCACCTGCTCCGCCGGCAGCGGACGAGGCGGGAGTTCCCCGTGATCTCCGTGGTGGGGTACACCAACTGCGGAAAGACCACGCTGATCAAGGCACTGACG
GGCGATGCCGCCATCCAGCCACGGGACCAGCTGTTTGCCACGCTGGACGTCACGGCCCACGCGGGCACGCTGCCCTCACGCATGACCGTCCTGTACGTGGACACC
ATCGGCTTCCTCTCCCAGCTGCCGCACGGCCTCATCGAGTCCTTCTCCGCCACCCTGGAAGACGTGGCCCACTCGGATCTCATCTTGCACGTGAGGGACGTCAGC
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>GTPBP6|8225|protein
MWALRAAVRPGLRLSRVGRGRSAPRAAAPSCPARALAAVGRRSPGNLEGPWGGGRGLRADGGRSRTGDDEEEPEDADENAEEELLRGEPLLPAGTQRVCLVHPDV
KWGPGKSQMTRAEWQVAEATALVHTLDGWSVVQTMVVSTKTPDRKLIFGKGNFEHLTEKIRGSPDVTCVFLNVERMAAPTKKELEAAWGVEVFDRFTVVLHIFRC
NARTKEARLQVALAEMPLHRSNLKRDVAHLYRGVGSRYIMGSGESFMQLQQRLLREKEAKIRKALDRLRKKRHLLRRQRTRREFPVISVVGYTNCGKTTLIKALT
GDAAIQPRDQLFATLDVTAHAGTLPSRMTVLYVDTIGFLSQLPHGLIESFSATLEDVAHSDLILHVRDVSHPEAELQKCSVLSTLRGLQLPAPLLDSMVEVHNKV
DLVPGYSPTEPNVVPVSALRGHGLQELKAELDAAVLKATGRQILTLRVRLAGAQLSWLYKEATVQEVDVIPEDGAADVRVIISNSAYGKFRKLFPG
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (4)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Laplana M, 2014 - aCGHASD 1 - - - 1 5 6
Linkage Studies Top