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
Show »
ATGACTACCAACGCGGGCCCCTTGCACCCATACTGGCCTCAGCACCTAAGACTGGACAACTTTGTACCTAATGACCGCCCCACCTGGCATATACTGGCTGGCCTC
TTCTCTGTCACAGGGGTCTTAGTCGTGACCACATGGCTGTTGTCAGGTCGTGCTGCGGTTGTCCCATTGGGGACTTGGCGGCGACTGTCCCTGTGCTGGTTTGCA
GTGTGTGGGTTCATTCACCTGGTGATCGAGGGCTGGTTCGTTCTCTACTACGAAGACCTGCTTGGAGACCAAGCCTTCTTATCTCAACTCTGGAAAGAGTATGCC
AAGGGAGACAGCCGATACATCCTGGGTGACAACTTCACAGTGTGCATGGAAACCATCACAGCTTGCCTGTGGGGACCACTCAGCCTGTGGGTGGTGATCGCCTTT
CTCCGCCAGCATCCCCTCCGCTTCATTCTACAGCTTGTGGTCTCTGTGGGCCAGATCTATGGGGATGTGCTCTACTTCCTGACAGAGCACCGCGACGGATTCCAG
CACGGAGAGCTGGGCCACCCTCTCTACTTCTGGTTTTACTTTGTCTTCATGAATGCCCTGTGGCTGGTGCTGCCTGGAGTCCTTGTGCTTGATGCTGTGAAGCAC
CTCACTCATGCCCAGAGCACGCTGGATGCCAAGGCCACAAAAGCCAAGAGCAAGAAGAACTGA
Show »
>EBP|10682|protein
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYA
KGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKH
LTHAQSTLDAKATKAKSKKN
Show »
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYA
KGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKH
LTHAQSTLDAKATKAKSKKN
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) | 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 | Austria | FISH, aCGH |  | | autism | - | - | - | - | 1 | - | 1 |
| 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 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.