Evidence Details for CASP14
Basic Information Top
| Gene Symbol: | CASP14 ( MGC119078,MGC119079 ) |
|---|---|
| Gene Full Name: | caspase 14, apoptosis-related cysteine peptidase |
| Band: | 19p13.12 |
| Quick Links | Entrez ID:23581; OMIM: 605848; Uniprot ID:CASPE_HUMAN; ENSEMBL ID: ENSG00000105141; HGNC ID: 1502 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CASP14|23581|nucleotide
ATGAGCAATCCGCGGTCTTTGGAAGAGGAGAAATATGATATGTCAGGTGCCCGCCTGGCCCTAATACTGTGTGTCACCAAAGCCCGGGAAGGTTCCGAAGAAGAC
CTGGATGCTCTGGAACACATGTTTCGGCAGCTGAGATTCGAAAGCACCATGAAAAGAGACCCCACTGCCGAGCAATTCCAGGAAGAGCTGGAAAAATTCCAGCAG
GCCATCGATTCCCGGGAAGATCCCGTCAGTTGTGCCTTCGTGGTACTCATGGCTCACGGGAGGGAAGGCTTCCTCAAGGGAGAAGATGGGGAGATGGTCAAGCTG
GAGAATCTCTTCGAGGCCCTGAACAACAAGAACTGCCAGGCCCTGCGAGCTAAGCCCAAGGTGTACATCATACAGGCCTGTCGAGGAGAACAAAGGGACCCCGGT
GAAACAGTAGGTGGAGATGAGATTGTGATGGTCATCAAAGACAGCCCACAAACCATCCCAACATACACAGATGCCTTGCACGTTTATTCCACGGTAGAGGGATAC
ATCGCCTACCGACATGATCAGAAAGGCTCATGCTTTATCCAGACCCTGGTGGATGTGTTCACGAAGAGGAAAGGACATATCTTGGAACTTCTGACAGAGGTGACC
CGGCGGATGGCAGAAGCAGAGCTGGTTCAAGAAGGAAAAGCAAGGAAAACGAACCCTGAAATCCAAAGCACCCTCCGGAAACGGCTGTATCTGCAGTAG
Show »
ATGAGCAATCCGCGGTCTTTGGAAGAGGAGAAATATGATATGTCAGGTGCCCGCCTGGCCCTAATACTGTGTGTCACCAAAGCCCGGGAAGGTTCCGAAGAAGAC
CTGGATGCTCTGGAACACATGTTTCGGCAGCTGAGATTCGAAAGCACCATGAAAAGAGACCCCACTGCCGAGCAATTCCAGGAAGAGCTGGAAAAATTCCAGCAG
GCCATCGATTCCCGGGAAGATCCCGTCAGTTGTGCCTTCGTGGTACTCATGGCTCACGGGAGGGAAGGCTTCCTCAAGGGAGAAGATGGGGAGATGGTCAAGCTG
GAGAATCTCTTCGAGGCCCTGAACAACAAGAACTGCCAGGCCCTGCGAGCTAAGCCCAAGGTGTACATCATACAGGCCTGTCGAGGAGAACAAAGGGACCCCGGT
GAAACAGTAGGTGGAGATGAGATTGTGATGGTCATCAAAGACAGCCCACAAACCATCCCAACATACACAGATGCCTTGCACGTTTATTCCACGGTAGAGGGATAC
ATCGCCTACCGACATGATCAGAAAGGCTCATGCTTTATCCAGACCCTGGTGGATGTGTTCACGAAGAGGAAAGGACATATCTTGGAACTTCTGACAGAGGTGACC
CGGCGGATGGCAGAAGCAGAGCTGGTTCAAGAAGGAAAAGCAAGGAAAACGAACCCTGAAATCCAAAGCACCCTCCGGAAACGGCTGTATCTGCAGTAG
Show »
>CASP14|23581|protein
MSNPRSLEEEKYDMSGARLALILCVTKAREGSEEDLDALEHMFRQLRFESTMKRDPTAEQFQEELEKFQQAIDSREDPVSCAFVVLMAHGREGFLKGEDGEMVKL
ENLFEALNNKNCQALRAKPKVYIIQACRGEQRDPGETVGGDEIVMVIKDSPQTIPTYTDALHVYSTVEGYIAYRHDQKGSCFIQTLVDVFTKRKGHILELLTEVT
RRMAEAELVQEGKARKTNPEIQSTLRKRLYLQ
Show »
MSNPRSLEEEKYDMSGARLALILCVTKAREGSEEDLDALEHMFRQLRFESTMKRDPTAEQFQEELEKFQQAIDSREDPVSCAFVVLMAHGREGFLKGEDGEMVKL
ENLFEALNNKNCQALRAKPKVYIIQACRGEQRDPGETVGGDEIVMVIKDSPQTIPTYTDALHVYSTVEGYIAYRHDQKGSCFIQTLVDVFTKRKGHILELLTEVT
RRMAEAELVQEGKARKTNPEIQSTLRKRLYLQ
Show »
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) | 0 (2) | 1 (2) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top