Evidence Details for EVL
Basic Information Top
| Gene Symbol: | EVL ( RNB6 ) |
|---|---|
| Gene Full Name: | Enah/Vasp-like |
| Band: | 14q32.2 |
| Quick Links | Entrez ID:51466; OMIM: NA; Uniprot ID:EVL_HUMAN; ENSEMBL ID: ENSG00000196405; HGNC ID: 20234 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>EVL|51466|nucleotide
ATGGCCACAAGTGAACAGAGTATCTGCCAAGCCCGGGCTTCCGTGATGGTCTACGATGACACCAGTAAGAAATGGGTACCAATCAAACCTGGCCAGCAGGGATTC
AGCCGGATCAACATCTACCACAACACTGCCAGCAACACCTTCAGAGTCGTTGGAGTCAAGTTGCAGGATCAGCAGGTTGTGATCAATTATTCAATCGTGAAAGGG
CTGAAGTACAATCAGGCCACGCCAACCTTCCACCAGTGGCGAGATGCCCGCCAGGTCTACGGCTTAAACTTTGCAAGTAAAGAAGAGGCAACCACGTTCTCCAAT
GCAATGCTGTTTGCCCTGAACATCATGAATTCCCAAGAAGGAGGCCCCTCCAGCCAGCGTCAGGTGCAGAATGGCCCCTCTCCTGATGAGATGGACATCCAGAGA
AGACAAGTGATGGAGCAGCACCAGCAGCAGCGTCAGGAATCTCTAGAAAGAAGAACCTCGGCCACAGGGCCCATCCTCCCACCAGGACATCCTTCATCTGCAGCC
AGCGCCCCCGTCTCATGTAGTGGGCCTCCACCGCCCCCCCCACCCCCAGTCCCACCTCCACCCACTGGGGCTACCCCACCTCCCCCACCCCCACTGCCAGCCGGA
GGAGCCCAGGGGTCCAGCCACGACGAGAGCTCCATGTCAGGACTGGCCGCTGCCATAGCTGGGGCCAAGCTGAGAAGAGTCCAACGGCCAGAAGACGCATCTGGA
GGCTCCAGTCCCAGTGGGACCTCAAAGTCCGATGCCAACCGGGCAAGCAGCGGGGGTGGCGGAGGAGGCCTCATGGAGGAAATGAACAAACTGCTGGCCAAGAGG
AGAAAAGCAGCCTCCCAGTCAGACAAGCCAGCCGAGAAGAAGGAAGATGAAAGCCAAATGGAAGATCCTAGTACCTCCCCCTCTCCGGGGACCCGAGCAGCCAGC
CAGCCACCTAACTCCTCAGAGGCTGGCCGGAAGCCCTGGGAGCGGAGCAACTCGGTGGAGAAGCCTGTGTCCTCGATTCTGTCCAGAACCCCGTCTGTGGCAAAG
AGCCCCGAAGCTAAGAGCCCCCTTCAGTCGCAGCCTCACTCTAGGATGAAGCCTGCTGGGAGCGTGAATGACATGGCCCTGGATGCCTTCGACTTGGACCGGATG
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ATGGCCACAAGTGAACAGAGTATCTGCCAAGCCCGGGCTTCCGTGATGGTCTACGATGACACCAGTAAGAAATGGGTACCAATCAAACCTGGCCAGCAGGGATTC
AGCCGGATCAACATCTACCACAACACTGCCAGCAACACCTTCAGAGTCGTTGGAGTCAAGTTGCAGGATCAGCAGGTTGTGATCAATTATTCAATCGTGAAAGGG
CTGAAGTACAATCAGGCCACGCCAACCTTCCACCAGTGGCGAGATGCCCGCCAGGTCTACGGCTTAAACTTTGCAAGTAAAGAAGAGGCAACCACGTTCTCCAAT
GCAATGCTGTTTGCCCTGAACATCATGAATTCCCAAGAAGGAGGCCCCTCCAGCCAGCGTCAGGTGCAGAATGGCCCCTCTCCTGATGAGATGGACATCCAGAGA
AGACAAGTGATGGAGCAGCACCAGCAGCAGCGTCAGGAATCTCTAGAAAGAAGAACCTCGGCCACAGGGCCCATCCTCCCACCAGGACATCCTTCATCTGCAGCC
AGCGCCCCCGTCTCATGTAGTGGGCCTCCACCGCCCCCCCCACCCCCAGTCCCACCTCCACCCACTGGGGCTACCCCACCTCCCCCACCCCCACTGCCAGCCGGA
GGAGCCCAGGGGTCCAGCCACGACGAGAGCTCCATGTCAGGACTGGCCGCTGCCATAGCTGGGGCCAAGCTGAGAAGAGTCCAACGGCCAGAAGACGCATCTGGA
GGCTCCAGTCCCAGTGGGACCTCAAAGTCCGATGCCAACCGGGCAAGCAGCGGGGGTGGCGGAGGAGGCCTCATGGAGGAAATGAACAAACTGCTGGCCAAGAGG
AGAAAAGCAGCCTCCCAGTCAGACAAGCCAGCCGAGAAGAAGGAAGATGAAAGCCAAATGGAAGATCCTAGTACCTCCCCCTCTCCGGGGACCCGAGCAGCCAGC
CAGCCACCTAACTCCTCAGAGGCTGGCCGGAAGCCCTGGGAGCGGAGCAACTCGGTGGAGAAGCCTGTGTCCTCGATTCTGTCCAGAACCCCGTCTGTGGCAAAG
AGCCCCGAAGCTAAGAGCCCCCTTCAGTCGCAGCCTCACTCTAGGATGAAGCCTGCTGGGAGCGTGAATGACATGGCCCTGGATGCCTTCGACTTGGACCGGATG
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>EVL|51466|protein
MATSEQSICQARASVMVYDDTSKKWVPIKPGQQGFSRINIYHNTASNTFRVVGVKLQDQQVVINYSIVKGLKYNQATPTFHQWRDARQVYGLNFASKEEATTFSN
AMLFALNIMNSQEGGPSSQRQVQNGPSPDEMDIQRRQVMEQHQQQRQESLERRTSATGPILPPGHPSSAASAPVSCSGPPPPPPPPVPPPPTGATPPPPPPLPAG
GAQGSSHDESSMSGLAAAIAGAKLRRVQRPEDASGGSSPSGTSKSDANRASSGGGGGGLMEEMNKLLAKRRKAASQSDKPAEKKEDESQMEDPSTSPSPGTRAAS
QPPNSSEAGRKPWERSNSVEKPVSSILSRTPSVAKSPEAKSPLQSQPHSRMKPAGSVNDMALDAFDLDRMKQEILEEVVRELHKVKEEIIDAIRQELSGISTT
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MATSEQSICQARASVMVYDDTSKKWVPIKPGQQGFSRINIYHNTASNTFRVVGVKLQDQQVVINYSIVKGLKYNQATPTFHQWRDARQVYGLNFASKEEATTFSN
AMLFALNIMNSQEGGPSSQRQVQNGPSPDEMDIQRRQVMEQHQQQRQESLERRTSATGPILPPGHPSSAASAPVSCSGPPPPPPPPVPPPPTGATPPPPPPLPAG
GAQGSSHDESSMSGLAAAIAGAKLRRVQRPEDASGGSSPSGTSKSDANRASSGGGGGGLMEEMNKLLAKRRKAASQSDKPAEKKEDESQMEDPSTSPSPGTRAAS
QPPNSSEAGRKPWERSNSVEKPVSSILSRTPSVAKSPEAKSPLQSQPHSRMKPAGSVNDMALDAFDLDRMKQEILEEVVRELHKVKEEIIDAIRQELSGISTT
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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) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 11 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hu, 2009_1 | mixed | lymphoblastoid cell lines | 21 (-) |  |  | autism with nonaffected sib pairs | autism | 17 (-) |
1.26 | Up | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
| O'Roak BJ, 2014 | 3486 | - | 59 | Recurrent de novo mutations implicate novel genes underlying simplex autism risk. |
NGS 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.