Evidence Details for CTSH
Basic Information Top
| Gene Symbol: | CTSH ( ACC-4,ACC-5,CPSB,DKFZp686B24257,MGC1519,minichain ) |
|---|---|
| Gene Full Name: | cathepsin H |
| Band: | 15q25.1 |
| Quick Links | Entrez ID:1512; OMIM: 116820; Uniprot ID:CATH_HUMAN; ENSEMBL ID: ENSG00000103811; HGNC ID: 2535 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CTSH|1512|nucleotide
ATGTGGGCCACGCTGCCGCTGCTCTGCGCCGGGGCCTGGCTCCTGGGAGTCCCCGTCTGCGGTGCCGCCGAACTGTGCGTGAACTCCTTAGAGAAGTTTCACTTC
AAGTCATGGATGTCTAAGCACCGTAAGACCTACAGTACGGAGGAGTACCACCACAGGCTGCAGACGTTTGCCAGCAACTGGAGGAAGATAAACGCCCACAACAAT
GGGAACCACACATTTAAAATGGCACTGAACCAATTTTCAGACATGAGCTTTGCTGAAATAAAACACAAGTATCTCTGGTCAGAGCCTCAGAATTGCTCAGCCACC
AAAAGTAACTACCTTCGAGGTACTGGTCCCTACCCACCTTCCGTGGACTGGCGGAAAAAAGGAAATTTTGTCTCACCTGTGAAAAATCAGGGTGCCTGCGGCAGT
TGCTGGACTTTCTCCACCACTGGGGCCCTGGAGTCTGCGATCGCCATCGCAACCGGAAAGATGCTGTCCTTGGCGGAACAGCAGCTGGTGGACTGCGCCCAGGAC
TTCAATAATCACGGCTGCCAAGGGGGTCTCCCCAGCCAGGCTTTCGAGTATATCCTGTACAACAAGGGGATCATGGGTGAAGACACCTACCCCTACCAGGGCAAG
GATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCTATGACGAGGAAGCGATGGTGGAGGCTGTGGCCCTC
TACAACCCTGTGAGCTTTGCCTTTGAGGTGACTCAGGACTTCATGATGTATAGAACGGGCATCTACTCCAGTACTTCCTGCCATAAAACTCCAGATAAAGTAAAC
CATGCAGTACTGGCTGTTGGGTATGGAGAAAAAAATGGGATCCCTTACTGGATCGTGAAAAACTCTTGGGGTCCCCAGTGGGGAATGAACGGGTACTTCCTCATC
GAGCGCGGAAAGAACATGTGTGGCCTGGCTGCCTGCGCCTCCTACCCCATCCCTCTGGTGTGA
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ATGTGGGCCACGCTGCCGCTGCTCTGCGCCGGGGCCTGGCTCCTGGGAGTCCCCGTCTGCGGTGCCGCCGAACTGTGCGTGAACTCCTTAGAGAAGTTTCACTTC
AAGTCATGGATGTCTAAGCACCGTAAGACCTACAGTACGGAGGAGTACCACCACAGGCTGCAGACGTTTGCCAGCAACTGGAGGAAGATAAACGCCCACAACAAT
GGGAACCACACATTTAAAATGGCACTGAACCAATTTTCAGACATGAGCTTTGCTGAAATAAAACACAAGTATCTCTGGTCAGAGCCTCAGAATTGCTCAGCCACC
AAAAGTAACTACCTTCGAGGTACTGGTCCCTACCCACCTTCCGTGGACTGGCGGAAAAAAGGAAATTTTGTCTCACCTGTGAAAAATCAGGGTGCCTGCGGCAGT
TGCTGGACTTTCTCCACCACTGGGGCCCTGGAGTCTGCGATCGCCATCGCAACCGGAAAGATGCTGTCCTTGGCGGAACAGCAGCTGGTGGACTGCGCCCAGGAC
TTCAATAATCACGGCTGCCAAGGGGGTCTCCCCAGCCAGGCTTTCGAGTATATCCTGTACAACAAGGGGATCATGGGTGAAGACACCTACCCCTACCAGGGCAAG
GATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCTATGACGAGGAAGCGATGGTGGAGGCTGTGGCCCTC
TACAACCCTGTGAGCTTTGCCTTTGAGGTGACTCAGGACTTCATGATGTATAGAACGGGCATCTACTCCAGTACTTCCTGCCATAAAACTCCAGATAAAGTAAAC
CATGCAGTACTGGCTGTTGGGTATGGAGAAAAAAATGGGATCCCTTACTGGATCGTGAAAAACTCTTGGGGTCCCCAGTGGGGAATGAACGGGTACTTCCTCATC
GAGCGCGGAAAGAACATGTGTGGCCTGGCTGCCTGCGCCTCCTACCCCATCCCTCTGGTGTGA
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>CTSH|1512|protein
MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSAT
KSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGK
DGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLI
ERGKNMCGLAACASYPIPLV
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MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSAT
KSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGK
DGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLI
ERGKNMCGLAACASYPIPLV
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
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 | ||||||
| Bonati, 2005 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top