Evidence Details for HSPBP1
Basic Information Top
| Gene Symbol: | HSPBP1 ( FES1 ) |
|---|---|
| Gene Full Name: | HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 |
| Band: | 19q13.42 |
| Quick Links | Entrez 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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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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MSDEGSRGSRLPLALPPASQGCSSGGGGGGSSAGGSGNSRPPRNLQGLLQMAITAGSEEPDPPPEPMSEERRQWLQEAMSAAFRGQREEVEQMKSCLRVLSQPMP
PTAGEAEQAADQQEREGALELLADLCENMDNAADFCQLSGMHLLVGRYLEAGAAGLRWRAAQLIGTCSQNVAAIQEQVLGLGALRKLLRLLDRDACDTVRVKALF
AISCLVREQEAGLLQFLRLDGFSVLMRAMQQQVQKLKVKSAFLLQNLLVGHPEHKGTLCSMGMVQQLVALVRTEHSPFHEHVLGALCSLVTDFPQGVRECREPEL
GLEELLRHRCQLLQQHEEYQEELEFCEKLLQTCFSSPADDSMDR
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
| Gregory, 2009 | USA | aCGH | |  | ASD | - | - | - | - | 119 | 54 | 173 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nishimura, 2007_1 | America | lymphoblastoid cell lines | 8 (-) | | | autism with FMR1-FM | autism | 15 (-) |
0.87 | Down | 0.0000032 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.