Evidence Details for CTSB
Basic Information Top
| Gene Symbol: | CTSB ( APPS,CPSB ) |
|---|---|
| Gene Full Name: | cathepsin B |
| Band: | 8p23.1 |
| Quick Links | Entrez ID:1508; OMIM: 116810; Uniprot ID:CATB_HUMAN; ENSEMBL ID: ENSG00000164733; HGNC ID: 2527 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CTSB|1508|nucleotide
ATGTGGCAGCTCTGGGCCTCCCTCTGCTGCCTGCTGGTGTTGGCCAATGCCCGGAGCAGGCCCTCTTTCCATCCCCTGTCGGATGAGCTGGTCAACTATGTCAAC
AAACGGAATACCACGTGGCAGGCCGGGCACAACTTCTACAACGTGGACATGAGCTACTTGAAGAGGCTATGTGGTACCTTCCTGGGTGGGCCCAAGCCACCCCAG
AGAGTTATGTTTACCGAGGACCTGAAGCTGCCTGCAAGCTTCGATGCACGGGAACAATGGCCACAGTGTCCCACCATCAAAGAGATCAGAGACCAGGGCTCCTGT
GGCTCCTGCTGGGCCTTCGGGGCTGTGGAAGCCATCTCTGACCGGATCTGCATCCACACCAATGCGCACGTCAGCGTGGAGGTGTCGGCGGAGGACCTGCTCACA
TGCTGTGGCAGCATGTGTGGGGACGGCTGTAATGGTGGCTATCCTGCTGAAGCTTGGAACTTCTGGACAAGAAAAGGCCTGGTTTCTGGTGGCCTCTATGAATCC
CATGTAGGGTGCAGACCGTACTCCATCCCTCCCTGTGAGCACCACGTCAACGGCTCCCGGCCCCCATGCACGGGGGAGGGAGATACCCCCAAGTGTAGCAAGATC
TGTGAGCCTGGCTACAGCCCGACCTACAAACAGGACAAGCACTACGGATACAATTCCTACAGCGTCTCCAATAGCGAGAAGGACATCATGGCCGAGATCTACAAA
AACGGCCCCGTGGAGGGAGCTTTCTCTGTGTATTCGGACTTCCTGCTCTACAAGTCAGGAGTGTACCAACACGTCACCGGAGAGATGATGGGTGGCCATGCCATC
CGCATCCTGGGCTGGGGAGTGGAGAATGGCACACCCTACTGGCTGGTTGCCAACTCCTGGAACACTGACTGGGGTGACAATGGCTTCTTTAAAATACTCAGAGGA
CAGGATCACTGTGGAATCGAATCAGAAGTGGTGGCTGGAATTCCACGCACCGATCAGTACTGGGAAAAGATCTAA
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ATGTGGCAGCTCTGGGCCTCCCTCTGCTGCCTGCTGGTGTTGGCCAATGCCCGGAGCAGGCCCTCTTTCCATCCCCTGTCGGATGAGCTGGTCAACTATGTCAAC
AAACGGAATACCACGTGGCAGGCCGGGCACAACTTCTACAACGTGGACATGAGCTACTTGAAGAGGCTATGTGGTACCTTCCTGGGTGGGCCCAAGCCACCCCAG
AGAGTTATGTTTACCGAGGACCTGAAGCTGCCTGCAAGCTTCGATGCACGGGAACAATGGCCACAGTGTCCCACCATCAAAGAGATCAGAGACCAGGGCTCCTGT
GGCTCCTGCTGGGCCTTCGGGGCTGTGGAAGCCATCTCTGACCGGATCTGCATCCACACCAATGCGCACGTCAGCGTGGAGGTGTCGGCGGAGGACCTGCTCACA
TGCTGTGGCAGCATGTGTGGGGACGGCTGTAATGGTGGCTATCCTGCTGAAGCTTGGAACTTCTGGACAAGAAAAGGCCTGGTTTCTGGTGGCCTCTATGAATCC
CATGTAGGGTGCAGACCGTACTCCATCCCTCCCTGTGAGCACCACGTCAACGGCTCCCGGCCCCCATGCACGGGGGAGGGAGATACCCCCAAGTGTAGCAAGATC
TGTGAGCCTGGCTACAGCCCGACCTACAAACAGGACAAGCACTACGGATACAATTCCTACAGCGTCTCCAATAGCGAGAAGGACATCATGGCCGAGATCTACAAA
AACGGCCCCGTGGAGGGAGCTTTCTCTGTGTATTCGGACTTCCTGCTCTACAAGTCAGGAGTGTACCAACACGTCACCGGAGAGATGATGGGTGGCCATGCCATC
CGCATCCTGGGCTGGGGAGTGGAGAATGGCACACCCTACTGGCTGGTTGCCAACTCCTGGAACACTGACTGGGGTGACAATGGCTTCTTTAAAATACTCAGAGGA
CAGGATCACTGTGGAATCGAATCAGAAGTGGTGGCTGGAATTCCACGCACCGATCAGTACTGGGAAAAGATCTAA
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>CTSB|1508|protein
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKLPASFDAREQWPQCPTIKEIRDQGSC
GSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWNFWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKI
CEPGYSPTYKQDKHYGYNSYSVSNSEKDIMAEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRG
QDHCGIESEVVAGIPRTDQYWEKI
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MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKLPASFDAREQWPQCPTIKEIRDQGSC
GSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWNFWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKI
CEPGYSPTYKQDKHYGYNSYSVSNSEKDIMAEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRG
QDHCGIESEVVAGIPRTDQYWEKI
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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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
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 | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Papanikolaou, 2006 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top