AutismKB 2.0

Evidence Details for HSPBP1


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Basic Information Top
Gene Symbol:HSPBP1 ( FES1 )
Gene Full Name: HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1
Band: 19q13.42
Quick LinksEntrez ID:23640; OMIM: 612939; Uniprot ID:HPBP1_HUMAN; ENSEMBL ID: ENSG00000133265; HGNC ID: 24989
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HSPBP1|23640|nucleotide
ATGTCAGACGAAGGCTCAAGGGGGAGCCGCCTGCCCCTGGCGCTGCCCCCGGCCTCCCAGGGTTGCTCTTCAGGGGGCGGCGGCGGCGGCTCCTCGGCTGGGGGC
TCGGGCAATTCCCGGCCCCCACGCAACCTCCAAGGCTTGCTGCAGATGGCCATCACCGCGGGCTCTGAAGAGCCAGACCCTCCTCCAGAACCGATGAGTGAGGAG
AGGCGTCAGTGGCTGCAGGAGGCCATGTCGGCTGCCTTCCGAGGCCAGCGGGAGGAGGTGGAGCAGATGAAGAGCTGCCTCCGAGTGCTGTCACAGCCCATGCCC
CCCACTGCTGGGGAGGCCGAGCAGGCGGCCGACCAGCAAGAGCGAGAGGGGGCCCTGGAGCTGCTGGCCGACCTGTGTGAGAACATGGACAATGCCGCAGACTTC
TGCCAGCTGTCTGGCATGCACCTGCTGGTGGGCCGGTACCTGGAGGCGGGGGCTGCGGGACTGCGGTGGCGGGCGGCACAGCTCATCGGCACGTGCAGTCAGAAC
GTGGCAGCCATCCAGGAGCAGGTGCTGGGCCTGGGTGCCCTGCGTAAGCTGCTGCGGCTGCTGGACCGCGACGCCTGCGACACGGTGCGCGTCAAGGCCCTCTTC
GCCATCTCCTGTCTGGTCCGAGAGCAGGAGGCTGGGCTGCTGCAGTTCCTCCGCCTGGACGGCTTCTCTGTGTTGATGAGGGCCATGCAGCAGCAGGTGCAGAAG
CTCAAGGTCAAATCAGCATTCCTGCTGCAGAACCTGCTGGTGGGCCACCCTGAACACAAAGGGACCCTGTGCTCCATGGGGATGGTCCAGCAGCTGGTGGCCCTG
GTGCGGACAGAGCACAGCCCCTTCCACGAGCACGTGCTTGGAGCCCTGTGCAGCCTGGTGACAGACTTTCCGCAGGGTGTGCGCGAGTGTCGGGAGCCGGAACTG
GGCCTGGAGGAGCTCCTCCGCCACCGCTGTCAGCTGCTGCAGCAGCATGAGGAGTACCAGGAGGAGCTGGAGTTCTGTGAAAAGCTGCTACAGACCTGTTTCTCC
AGCCCAGCGGACGACAGCATGGATCGGTGA
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>HSPBP1|23640|protein
MSDEGSRGSRLPLALPPASQGCSSGGGGGGSSAGGSGNSRPPRNLQGLLQMAITAGSEEPDPPPEPMSEERRQWLQEAMSAAFRGQREEVEQMKSCLRVLSQPMP
PTAGEAEQAADQQEREGALELLADLCENMDNAADFCQLSGMHLLVGRYLEAGAAGLRWRAAQLIGTCSQNVAAIQEQVLGLGALRKLLRLLDRDACDTVRVKALF
AISCLVREQEAGLLQFLRLDGFSVLMRAMQQQVQKLKVKSAFLLQNLLVGHPEHKGTLCSMGMVQQLVALVRTEHSPFHEHVLGALCSLVTDFPQGVRECREPEL
GLEELLRHRCQLLQQHEEYQEELEFCEKLLQTCFSSPADDSMDR

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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 (3) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 5 (5)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top