AutismKB 2.0

Evidence Details for FKBP6


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Basic Information Top
Gene Symbol:FKBP6 ( FKBP36,MGC87179,PPIase )
Gene Full Name: FK506 binding protein 6, 36kDa
Band: 7q11.23
Quick LinksEntrez ID:8468; OMIM: 604839; Uniprot ID:FKBP6_HUMAN; ENSEMBL ID: ENSG00000077800; HGNC ID: 3722
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FKBP6|8468|nucleotide
ATGAGTGCCTCCTCGTGGCCCCAGAATGGAATGCCGCCGTCGTCCCTGTACGAGCGGTTAAGTCAGAGGATGCTGGACATCTCGGGGGACCGGGGCGTGCTGAAG
GACGTCATCCGAGAAGGAGCTGGAGACCTAGTGGCGCCTGATGCTTCGGTGCTAGTGAAATACTCGGGATACCTGGAACACATGGACAGACCCTTCGATTCTAAT
TACTTTAGGAAAACTCCTCGGCTAATGAAACTTGGAGAGGATATTACACTGTGGGGCATGGAGCTGGGCCTTCTGAGCATGCGGAGAGGAGAGCTGGCCAGGTTT
CTGTTCAAACCGAACTACGCCTATGGAACGCTGGGCTGCCCTCCCTTGATCCCCCCAAACACCACTGTCCTGTTTGAGATTGAGCTGCTTGACTTCCTGGACTGT
GCTGAGTCAGACAAGTTTTGTGCTCTCTCAGCTGAGCAGCAAGACCAATTTCCACTTCAGAAGGTCCTGAAAGTGGCAGCTACGGAACGGGAGTTTGGCAACTAC
CTTTTCCGCCAGAATCGTTTCTATGATGCCAAAGTGAGATATAAAAGGGCCCTGTTGCTTCTGCGCCGGCGATCAGCACCCCCTGAAGAGCAGCACCTGGTGGAG
GCCGCCAAGCTTCCTGTTCTCCTGAACCTGTCCTTTACATACCTGAAGCTAGACCGACCCACCATAGCCCTGTGCTATGGAGAGCAGGCTTTGATCATTGACCAA
AAGAATGCCAAGGCCCTCTTCAGGTGTGGACAGGCTTGTCTTCTCCTGACTGAGTATCAAAAGGCCCGGGATTTTCTAGTTCGAGCCCAGAAGGAGCAACCCTTC
AATCATGACATCAATAATGAGCTGAAGAAACTGGCTAGCTGTTACAGGGACTATGTGGATAAAGAGAAAGAAATGTGGCACCGCATGTTCGCGCCCTGTGGCGAT
GGTTCTACAGCAGGAGAAAGTTGA

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>FKBP6|8468|protein
MSASSWPQNGMPPSSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVKYSGYLEHMDRPFDSNYFRKTPRLMKLGEDITLWGMELGLLSMRRGELARF
LFKPNYAYGTLGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAEQQDQFPLQKVLKVAATEREFGNYLFRQNRFYDAKVRYKRALLLLRRRSAPPEEQHLVE
AAKLPVLLNLSFTYLKLDRPTIALCYGEQALIIDQKNAKALFRCGQACLLLTEYQKARDFLVRAQKEQPFNHDINNELKKLASCYRDYVDKEKEMWHRMFAPCGD
GSTAGES

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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) 0 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top