AutismKB 2.0

Evidence Details for FKBP5


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Basic Information Top
Gene Symbol:FKBP5 ( AIG6,FKBP51,FKBP54,MGC111006,P54,PPIase,Ptg-10 )
Gene Full Name: FK506 binding protein 5
Band: 6p21.31
Quick LinksEntrez ID:2289; OMIM: 602623; Uniprot ID:FKBP5_HUMAN; ENSEMBL ID: ENSG00000096060; HGNC ID: 3721
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FKBP5|2289|nucleotide
ATGACTACTGATGAAGGTGCCAAGAACAATGAAGAAAGCCCCACAGCCACTGTTGCTGAGCAGGGAGAGGATATTACCTCCAAAAAAGACAGGGGAGTATTAAAG
ATTGTCAAAAGAGTGGGGAATGGTGAGGAAACGCCGATGATTGGAGACAAAGTTTATGTCCATTACAAAGGAAAATTGTCAAATGGAAAGAAGTTTGATTCCAGT
CATGATAGAAATGAACCATTTGTCTTTAGTCTTGGCAAAGGCCAAGTCATCAAGGCATGGGACATTGGGGTGGCTACCATGAAGAAAGGAGAGATATGCCATTTA
CTGTGCAAACCAGAATATGCATATGGCTCGGCTGGCAGTCTCCCTAAAATTCCCTCGAATGCAACTCTCTTTTTTGAGATTGAGCTCCTTGATTTCAAAGGAGAG
GATTTATTTGAAGATGGAGGCATTATCCGGAGAACCAAACGGAAAGGAGAGGGATATTCAAATCCAAACGAAGGAGCAACAGTAGAAATCCACCTGGAAGGCCGC
TGTGGTGGAAGGATGTTTGACTGCAGAGATGTGGCATTCACTGTGGGCGAAGGAGAAGACCACGACATTCCAATTGGAATTGACAAAGCTCTGGAGAAAATGCAG
CGGGAAGAACAATGTATTTTATATCTTGGACCAAGATATGGTTTTGGAGAGGCAGGGAAGCCTAAATTTGGCATTGAACCTAATGCTGAGCTTATATATGAAGTT
ACACTTAAGAGCTTCGAAAAGGCCAAAGAATCCTGGGAGATGGATACCAAAGAAAAATTGGAGCAGGCTGCCATTGTCAAAGAGAAGGGAACCGTATACTTCAAG
GGAGGCAAATACATGCAGGCGGTGATTCAGTATGGGAAGATAGTGTCCTGGTTAGAGATGGAATATGGTTTATCAGAAAAGGAATCGAAAGCTTCTGAATCATTT
CTCCTTGCTGCCTTTCTGAACCTGGCCATGTGCTACCTGAAGCTTAGAGAATACACCAAAGCTGTTGAATGCTGTGACAAGGCCCTTGGACTGGACAGTGCCAAT
GAGAAAGGCTTGTATAGGAGGGGTGAAGCCCAGCTGCTCATGAACGAGTTTGAGTCAGCCAAGGGTGACTTTGAGAAAGTGCTGGAAGTAAACCCCCAGAATAAG
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>FKBP5|2289|protein
MTTDEGAKNNEESPTATVAEQGEDITSKKDRGVLKIVKRVGNGEETPMIGDKVYVHYKGKLSNGKKFDSSHDRNEPFVFSLGKGQVIKAWDIGVATMKKGEICHL
LCKPEYAYGSAGSLPKIPSNATLFFEIELLDFKGEDLFEDGGIIRRTKRKGEGYSNPNEGATVEIHLEGRCGGRMFDCRDVAFTVGEGEDHDIPIGIDKALEKMQ
REEQCILYLGPRYGFGEAGKPKFGIEPNAELIYEVTLKSFEKAKESWEMDTKEKLEQAAIVKEKGTVYFKGGKYMQAVIQYGKIVSWLEMEYGLSEKESKASESF
LLAAFLNLAMCYLKLREYTKAVECCDKALGLDSANEKGLYRRGEAQLLMNEFESAKGDFEKVLEVNPQNKAARLQISMCQKKAKEHNERDRRIYANMFKKFAEQD
AKEEANKAMGKKTSEGVTNEKGTDSQAMEEEKPEGHV
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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 (0) 0 (0) 0 (1) 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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top