Evidence Details for SCP2
Basic Information Top
| Gene Symbol: | SCP2 ( DKFZp686C12188,DKFZp686D11188,NLTP,NSL-TP,SCP-2,SCP-CHI,SCP-X,SCPX ) |
|---|---|
| Gene Full Name: | sterol carrier protein 2 |
| Band: | 1p32.3 |
| Quick Links | Entrez ID:6342; OMIM: 184755; Uniprot ID:NLTP_HUMAN; ENSEMBL ID: ENSG00000116171; HGNC ID: 10606 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SCP2|6342|nucleotide
ATGTCCTCTTCCCCGTGGGAGCCTGCGACCCTGCGCCGGGTGTTCGTGGTGGGGGTTGGCATGACCAAGTTTGTGAAGCCTGGAGCTGAGAATTCAAGAGACTAC
CCTGACTTGGCAGAAGAAGCAGGCAAGAAGGCTTTAGCTGATGCACAGATCCCTTATTCAGCAGTGGACCAGGCATGTGTTGGCTATGTTTTTGGTGTGGCAGAA
TGTGTCTTGGCTCTTGGGTTTGAGAAGATGAGTAAGGGAAGCCTTGGAATAAAATTTTCAGATAGAACCATTCCCACTGATAAGCATGTTGACCTCCTGATCAAT
AAGTATGGATTGTCTGCTCACCCAGTTGCTCCTCAGATGTTTGGGTATGCTGGAAAAGAACATATGGAAAAATATGGAACAAAAATTGAACACTTTGCAAAAATT
GGATGGAAAAATCATAAACATTCAGTTAATAACCCGTATTCCCAGTTCCAAGATGAATACAGTTTAGATGAAGTGATGGCATCTAAAGAAGTTTTTGATTTTTTG
ACTATCTTACAATGTTGTCCCACTTCAGATGGTGCTGCAGCAGCAATTTTGGCCAGTGAAGCATTTGTACAGAAGTATGGCCTGCAATCCAAAGCTGTGGAAATT
TTGGCACAAGAAATGATGACTGATTTGCCAAGCTCGTTTGAAGAAAAAAGCATTATTAAAATGGTTGGCTTTGATATGAGTAAAGAAGCTGCAAGAAAATGCTAT
GAGAAATCTGGCCTGACACCAAATGATATTGACGTAATAGAACTTCACGATTGCTTTTCTACCAACGAACTCCTTACTTATGAAGCACTGGGACTCTGTCCAGAA
GGACAAGGTGCAACGCTGGTTGATAGAGGAGATAATACATATGGAGGAAAGTGGGTCATAAATCCTAGTGGTGGACTGATTTCAAAGGGACACCCACTAGGCGCT
ACAGGAGGACATTCCTGCTCTTGA
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ATGTCCTCTTCCCCGTGGGAGCCTGCGACCCTGCGCCGGGTGTTCGTGGTGGGGGTTGGCATGACCAAGTTTGTGAAGCCTGGAGCTGAGAATTCAAGAGACTAC
CCTGACTTGGCAGAAGAAGCAGGCAAGAAGGCTTTAGCTGATGCACAGATCCCTTATTCAGCAGTGGACCAGGCATGTGTTGGCTATGTTTTTGGTGTGGCAGAA
TGTGTCTTGGCTCTTGGGTTTGAGAAGATGAGTAAGGGAAGCCTTGGAATAAAATTTTCAGATAGAACCATTCCCACTGATAAGCATGTTGACCTCCTGATCAAT
AAGTATGGATTGTCTGCTCACCCAGTTGCTCCTCAGATGTTTGGGTATGCTGGAAAAGAACATATGGAAAAATATGGAACAAAAATTGAACACTTTGCAAAAATT
GGATGGAAAAATCATAAACATTCAGTTAATAACCCGTATTCCCAGTTCCAAGATGAATACAGTTTAGATGAAGTGATGGCATCTAAAGAAGTTTTTGATTTTTTG
ACTATCTTACAATGTTGTCCCACTTCAGATGGTGCTGCAGCAGCAATTTTGGCCAGTGAAGCATTTGTACAGAAGTATGGCCTGCAATCCAAAGCTGTGGAAATT
TTGGCACAAGAAATGATGACTGATTTGCCAAGCTCGTTTGAAGAAAAAAGCATTATTAAAATGGTTGGCTTTGATATGAGTAAAGAAGCTGCAAGAAAATGCTAT
GAGAAATCTGGCCTGACACCAAATGATATTGACGTAATAGAACTTCACGATTGCTTTTCTACCAACGAACTCCTTACTTATGAAGCACTGGGACTCTGTCCAGAA
GGACAAGGTGCAACGCTGGTTGATAGAGGAGATAATACATATGGAGGAAAGTGGGTCATAAATCCTAGTGGTGGACTGATTTCAAAGGGACACCCACTAGGCGCT
ACAGGAGGACATTCCTGCTCTTGA
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>SCP2|6342|protein
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLIN
KYGLSAHPVAPQMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEAFVQKYGLQSKAVEI
LAQEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALGLCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGA
TGGHSCS
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MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLIN
KYGLSAHPVAPQMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEAFVQKYGLQSKAVEI
LAQEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALGLCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGA
TGGHSCS
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top