Evidence Details for EBP
Basic Information Top
| Gene Symbol: | EBP ( CDPX2,CHO2,CPX,CPXD ) |
|---|---|
| Gene Full Name: | emopamil binding protein (sterol isomerase) |
| Band: | Xp11.23 |
| Quick Links | Entrez ID:10682; OMIM: 300205; Uniprot ID:EBP_HUMAN; ENSEMBL ID: ENSG00000147155; HGNC ID: 3133 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>EBP|10682|nucleotide
ATGACTACCAACGCGGGCCCCTTGCACCCATACTGGCCTCAGCACCTAAGACTGGACAACTTTGTACCTAATGACCGCCCCACCTGGCATATACTGGCTGGCCTC
TTCTCTGTCACAGGGGTCTTAGTCGTGACCACATGGCTGTTGTCAGGTCGTGCTGCGGTTGTCCCATTGGGGACTTGGCGGCGACTGTCCCTGTGCTGGTTTGCA
GTGTGTGGGTTCATTCACCTGGTGATCGAGGGCTGGTTCGTTCTCTACTACGAAGACCTGCTTGGAGACCAAGCCTTCTTATCTCAACTCTGGAAAGAGTATGCC
AAGGGAGACAGCCGATACATCCTGGGTGACAACTTCACAGTGTGCATGGAAACCATCACAGCTTGCCTGTGGGGACCACTCAGCCTGTGGGTGGTGATCGCCTTT
CTCCGCCAGCATCCCCTCCGCTTCATTCTACAGCTTGTGGTCTCTGTGGGCCAGATCTATGGGGATGTGCTCTACTTCCTGACAGAGCACCGCGACGGATTCCAG
CACGGAGAGCTGGGCCACCCTCTCTACTTCTGGTTTTACTTTGTCTTCATGAATGCCCTGTGGCTGGTGCTGCCTGGAGTCCTTGTGCTTGATGCTGTGAAGCAC
CTCACTCATGCCCAGAGCACGCTGGATGCCAAGGCCACAAAAGCCAAGAGCAAGAAGAACTGA
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ATGACTACCAACGCGGGCCCCTTGCACCCATACTGGCCTCAGCACCTAAGACTGGACAACTTTGTACCTAATGACCGCCCCACCTGGCATATACTGGCTGGCCTC
TTCTCTGTCACAGGGGTCTTAGTCGTGACCACATGGCTGTTGTCAGGTCGTGCTGCGGTTGTCCCATTGGGGACTTGGCGGCGACTGTCCCTGTGCTGGTTTGCA
GTGTGTGGGTTCATTCACCTGGTGATCGAGGGCTGGTTCGTTCTCTACTACGAAGACCTGCTTGGAGACCAAGCCTTCTTATCTCAACTCTGGAAAGAGTATGCC
AAGGGAGACAGCCGATACATCCTGGGTGACAACTTCACAGTGTGCATGGAAACCATCACAGCTTGCCTGTGGGGACCACTCAGCCTGTGGGTGGTGATCGCCTTT
CTCCGCCAGCATCCCCTCCGCTTCATTCTACAGCTTGTGGTCTCTGTGGGCCAGATCTATGGGGATGTGCTCTACTTCCTGACAGAGCACCGCGACGGATTCCAG
CACGGAGAGCTGGGCCACCCTCTCTACTTCTGGTTTTACTTTGTCTTCATGAATGCCCTGTGGCTGGTGCTGCCTGGAGTCCTTGTGCTTGATGCTGTGAAGCAC
CTCACTCATGCCCAGAGCACGCTGGATGCCAAGGCCACAAAAGCCAAGAGCAAGAAGAACTGA
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>EBP|10682|protein
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYA
KGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKH
LTHAQSTLDAKATKAKSKKN
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MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYA
KGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKH
LTHAQSTLDAKATKAKSKKN
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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 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 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 | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Edens, 2011 | Honduras | aCGH | |  | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Chung, 2011 | - | SNP microarray | | | ASD | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top