Evidence Details for SPCS2
Basic Information Top
| Gene Symbol: | SPCS2 ( KIAA0102,MGC117366 ) |
|---|---|
| Gene Full Name: | signal peptidase complex subunit 2 homolog (S. cerevisiae) |
| Band: | 11q13.4 |
| Quick Links | Entrez ID:9789; OMIM: NA; Uniprot ID:SPCS2_HUMAN; ENSEMBL ID: ENSG00000118363; HGNC ID: 28962 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SPCS2|9789|nucleotide
ATGGCGGCGGCAGCTGTACAGGGCGGGAGAAGCGGTGGTAGCGGAGGCTGTAGTGGGGCTGGTGGTGCTTCCAACTGCGGGACAGGAAGTGGCCGTAGCGGCTTG
TTGGATAAGTGGAAGATAGATGATAAGCCTGTAAAAATTGACAAGTGGGATGGATCAGCTGTGAAAAACTCTTTGGATGATTCTGCCAAAAAGGTACTTCTGGAA
AAATACAAATATGTGGAGAATTTTGGTCTAATTGATGGTCGCCTCACCATCTGTACAATCTCCTGTTTCTTTGCCATAGTGGCTTTGATTTGGGATTATATGCAC
CCCTTTCCAGAGTCCAAACCCGTTTTGGCTTTGTGTGTCATATCCTATTTTGTGATGATGGGGATTCTGACCATTTATACCTCATATAAGGAGAAGAGCATCTTT
CTCGTGGCCCACAGGAAAGATCCTACAGGAATGGATCCTGATGATATTTGGCAGCTGTCCTCCAGTCTTAAAAGGTTTGATGACAAATACACCTTGAAGCTGACC
TTCATCAGTGGGAGAACAAAGCAGCAGCGGGAAGCCGAGTTCACAAAGTCCATTGCTAAGTTTTTTGACCACAGTGGGACACTGGTCATGGATGCATATGAGCCT
GAAATATCCAGGCTCCATGACAGTCTTGCCATAGAAAGAAAAATAAAGTAG
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ATGGCGGCGGCAGCTGTACAGGGCGGGAGAAGCGGTGGTAGCGGAGGCTGTAGTGGGGCTGGTGGTGCTTCCAACTGCGGGACAGGAAGTGGCCGTAGCGGCTTG
TTGGATAAGTGGAAGATAGATGATAAGCCTGTAAAAATTGACAAGTGGGATGGATCAGCTGTGAAAAACTCTTTGGATGATTCTGCCAAAAAGGTACTTCTGGAA
AAATACAAATATGTGGAGAATTTTGGTCTAATTGATGGTCGCCTCACCATCTGTACAATCTCCTGTTTCTTTGCCATAGTGGCTTTGATTTGGGATTATATGCAC
CCCTTTCCAGAGTCCAAACCCGTTTTGGCTTTGTGTGTCATATCCTATTTTGTGATGATGGGGATTCTGACCATTTATACCTCATATAAGGAGAAGAGCATCTTT
CTCGTGGCCCACAGGAAAGATCCTACAGGAATGGATCCTGATGATATTTGGCAGCTGTCCTCCAGTCTTAAAAGGTTTGATGACAAATACACCTTGAAGCTGACC
TTCATCAGTGGGAGAACAAAGCAGCAGCGGGAAGCCGAGTTCACAAAGTCCATTGCTAAGTTTTTTGACCACAGTGGGACACTGGTCATGGATGCATATGAGCCT
GAAATATCCAGGCTCCATGACAGTCTTGCCATAGAAAGAAAAATAAAGTAG
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>SPCS2|9789|protein
MAAAAVQGGRSGGSGGCSGAGGASNCGTGSGRSGLLDKWKIDDKPVKIDKWDGSAVKNSLDDSAKKVLLEKYKYVENFGLIDGRLTICTISCFFAIVALIWDYMH
PFPESKPVLALCVISYFVMMGILTIYTSYKEKSIFLVAHRKDPTGMDPDDIWQLSSSLKRFDDKYTLKLTFISGRTKQQREAEFTKSIAKFFDHSGTLVMDAYEP
EISRLHDSLAIERKIK
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MAAAAVQGGRSGGSGGCSGAGGASNCGTGSGRSGLLDKWKIDDKPVKIDKWDGSAVKNSLDDSAKKVLLEKYKYVENFGLIDGRLTICTISCFFAIVALIWDYMH
PFPESKPVLALCVISYFVMMGILTIYTSYKEKSIFLVAHRKDPTGMDPDDIWQLSSSLKRFDDKYTLKLTFISGRTKQQREAEFTKSIAKFFDHSGTLVMDAYEP
EISRLHDSLAIERKIK
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 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 | ||||||
| Berkel, 2010 | Canada | SNP microarray |  | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top