Evidence Details for EBPL
Basic Information Top
| Gene Symbol: | EBPL ( EBRP ) |
|---|---|
| Gene Full Name: | emopamil binding protein-like |
| Band: | 13q14.2 |
| Quick Links | Entrez ID:84650; OMIM: NA; Uniprot ID:EBPL_HUMAN; ENSEMBL ID: ENSG00000123179; HGNC ID: 18061 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>EBPL|84650|nucleotide
ATGGGCGCTGAGTGGGAGCTGGGGGCCGAGGCTGGCGGTTCGCTGCTGCTGTGCGCCGCGCTGCTGGCGGCGGGCTGCGCCCTGGGCCTGCGCCTGGGCCGCGGG
CAGGGGGCGGCGGACCGCGGGGCGCTCATCTGGCTCTGCTACGACGCGCTGGTGCACTTCGCGCTGGAAGGCCCTTTTGTCTACTTGTCTTTAGTAGGAAACGTT
GCAAATTCCGATGGCTTGATTGCTTCTTTATGGAAAGAATATGGCAAAGCTGATGCAAGATGGGTTTATTTTGATCCAACCATTGTGTCTGTGGAAATTCTGACC
GTCGCCCTGGATGGGTCTCTGGCATTGTTCCTCATTTATGCCATAGTCAAAGAAAAATATTACCGGCATTTCCTGCAGATCACCCTGTGCGTGTGCGAGCTGTAT
GGCTGCTGGATGACCTTCCTCCCAGAGTGGCTCACCAGAAGCCCCAACCTCAACACCAGCAACTGGCTGTACTGTTGGCTTTACCTGTTTTTTTTTAACGGTGTG
TGGGTTCTGATCCCAGGACTGCTACTGTGGCAGTCATGGCTAGAACTCAAGAAAATGCATCAGAAAGAAACCAGTTCAGTGAAGAAGTTTCAGTGA
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ATGGGCGCTGAGTGGGAGCTGGGGGCCGAGGCTGGCGGTTCGCTGCTGCTGTGCGCCGCGCTGCTGGCGGCGGGCTGCGCCCTGGGCCTGCGCCTGGGCCGCGGG
CAGGGGGCGGCGGACCGCGGGGCGCTCATCTGGCTCTGCTACGACGCGCTGGTGCACTTCGCGCTGGAAGGCCCTTTTGTCTACTTGTCTTTAGTAGGAAACGTT
GCAAATTCCGATGGCTTGATTGCTTCTTTATGGAAAGAATATGGCAAAGCTGATGCAAGATGGGTTTATTTTGATCCAACCATTGTGTCTGTGGAAATTCTGACC
GTCGCCCTGGATGGGTCTCTGGCATTGTTCCTCATTTATGCCATAGTCAAAGAAAAATATTACCGGCATTTCCTGCAGATCACCCTGTGCGTGTGCGAGCTGTAT
GGCTGCTGGATGACCTTCCTCCCAGAGTGGCTCACCAGAAGCCCCAACCTCAACACCAGCAACTGGCTGTACTGTTGGCTTTACCTGTTTTTTTTTAACGGTGTG
TGGGTTCTGATCCCAGGACTGCTACTGTGGCAGTCATGGCTAGAACTCAAGAAAATGCATCAGAAAGAAACCAGTTCAGTGAAGAAGTTTCAGTGA
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>EBPL|84650|protein
MGAEWELGAEAGGSLLLCAALLAAGCALGLRLGRGQGAADRGALIWLCYDALVHFALEGPFVYLSLVGNVANSDGLIASLWKEYGKADARWVYFDPTIVSVEILT
VALDGSLALFLIYAIVKEKYYRHFLQITLCVCELYGCWMTFLPEWLTRSPNLNTSNWLYCWLYLFFFNGVWVLIPGLLLWQSWLELKKMHQKETSSVKKFQ
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MGAEWELGAEAGGSLLLCAALLAAGCALGLRLGRGQGAADRGALIWLCYDALVHFALEGPFVYLSLVGNVANSDGLIASLWKEYGKADARWVYFDPTIVSVEILT
VALDGSLALFLIYAIVKEKYYRHFLQITLCVCELYGCWMTFLPEWLTRSPNLNTSNWLYCWLYLFFFNGVWVLIPGLLLWQSWLELKKMHQKETSSVKKFQ
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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 (1) | 0 (0) | 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 | ||||||
| Steele, 2001 | - | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top