Evidence Details for ENKUR
Basic Information Top
| Gene Symbol: | ENKUR ( C10orf63,DKFZp781F21103,MGC26778,enkurin ) |
|---|---|
| Gene Full Name: | enkurin, TRPC channel interacting protein |
| Band: | 10p12.1 |
| Quick Links | Entrez ID:219670; OMIM: 611025; Uniprot ID:ENKUR_HUMAN; ENSEMBL ID: ENSG00000151023; HGNC ID: 28388 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ENKUR|219670|nucleotide
ATGGATCCAACGTGCTCTTCTGAGTGCATTTATAACCTCATACCCAGTGACTTGAAGGAGCCTCCCCAGCCTCCTAGGTACATATCCATTTTTAAGGCAACTGTA
AAAGATGACATGCAAAAAGCTAAAACTGCAATGAAAACTATGGGACCAGCAAAAGTTGAAGTACCTTCTCCAAAGGATTTCCTAAAGAAACATTCAAAGGAGAAA
ACTCTACCACCCAAAAAAAACTTTGATCGGAACGTGCCCAAAAAGCCTGCTGTGCCATTGAAGACTGATCATCCTGTCATGGGAATACAGAGTGGAAAAAATTTT
ATAAATACAAATGCAGCTGATATCATCATGGGAGTGGCTAAAAAGCCTAAACCAATTTATGTTGATAAAAGAACTGGAGACAAGCATGATCTTGAGCCTTCAGGA
CTAGTTCCAAAGTACATCAATAAAAAGGATTATGGTGTCACACCTGAATACATATGTAAGCGAAACGAGGAAATAAAGAAAGCCCAAGAAGACTATGATCGTTAT
ATCCAGGAAAACCTTAAGAAAGCAGCTATGAAAAGGCTCTCCGATGAAGAAAGGGAGGCAGTTTTGCAGGGGCTGAAAAAGAACTGGGAAGAGGTGCATAAAGAA
TTCCAGTCCCTCTCGGTCTTTATAGATTCTATACCAAAGAAGATCCGCAAGCAGAGGCTGGAAGAAGAAATGAAACAACTAGAACACGACATTGGCATAATTGAA
AAGCACAAGATTATTTATATTGCCAATAACGCATGA
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ATGGATCCAACGTGCTCTTCTGAGTGCATTTATAACCTCATACCCAGTGACTTGAAGGAGCCTCCCCAGCCTCCTAGGTACATATCCATTTTTAAGGCAACTGTA
AAAGATGACATGCAAAAAGCTAAAACTGCAATGAAAACTATGGGACCAGCAAAAGTTGAAGTACCTTCTCCAAAGGATTTCCTAAAGAAACATTCAAAGGAGAAA
ACTCTACCACCCAAAAAAAACTTTGATCGGAACGTGCCCAAAAAGCCTGCTGTGCCATTGAAGACTGATCATCCTGTCATGGGAATACAGAGTGGAAAAAATTTT
ATAAATACAAATGCAGCTGATATCATCATGGGAGTGGCTAAAAAGCCTAAACCAATTTATGTTGATAAAAGAACTGGAGACAAGCATGATCTTGAGCCTTCAGGA
CTAGTTCCAAAGTACATCAATAAAAAGGATTATGGTGTCACACCTGAATACATATGTAAGCGAAACGAGGAAATAAAGAAAGCCCAAGAAGACTATGATCGTTAT
ATCCAGGAAAACCTTAAGAAAGCAGCTATGAAAAGGCTCTCCGATGAAGAAAGGGAGGCAGTTTTGCAGGGGCTGAAAAAGAACTGGGAAGAGGTGCATAAAGAA
TTCCAGTCCCTCTCGGTCTTTATAGATTCTATACCAAAGAAGATCCGCAAGCAGAGGCTGGAAGAAGAAATGAAACAACTAGAACACGACATTGGCATAATTGAA
AAGCACAAGATTATTTATATTGCCAATAACGCATGA
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>ENKUR|219670|protein
MDPTCSSECIYNLIPSDLKEPPQPPRYISIFKATVKDDMQKAKTAMKTMGPAKVEVPSPKDFLKKHSKEKTLPPKKNFDRNVPKKPAVPLKTDHPVMGIQSGKNF
INTNAADIIMGVAKKPKPIYVDKRTGDKHDLEPSGLVPKYINKKDYGVTPEYICKRNEEIKKAQEDYDRYIQENLKKAAMKRLSDEEREAVLQGLKKNWEEVHKE
FQSLSVFIDSIPKKIRKQRLEEEMKQLEHDIGIIEKHKIIYIANNA
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MDPTCSSECIYNLIPSDLKEPPQPPRYISIFKATVKDDMQKAKTAMKTMGPAKVEVPSPKDFLKKHSKEKTLPPKKNFDRNVPKKPAVPLKTDHPVMGIQSGKNF
INTNAADIIMGVAKKPKPIYVDKRTGDKHDLEPSGLVPKYINKKDYGVTPEYICKRNEEIKKAQEDYDRYIQENLKKAAMKRLSDEEREAVLQGLKKNWEEVHKE
FQSLSVFIDSIPKKIRKQRLEEEMKQLEHDIGIIEKHKIIYIANNA
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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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen |  | | PDD | 99 | - | 99 | - | - | - | - |
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
Low 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.