Evidence Details for AQP9
Basic Information Top
| Gene Symbol: | AQP9 ( AQP-9,HsT17287,SSC1 ) |
|---|---|
| Gene Full Name: | aquaporin 9 |
| Band: | 15q21.3 |
| Quick Links | Entrez ID:366; OMIM: 602914; Uniprot ID:AQP9_HUMAN; ENSEMBL ID: ENSG00000103569; HGNC ID: 643 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>AQP9|366|nucleotide
ATGCAGCCTGAGGGAGCAGAAAAGGGAAAAAGCTTCAAGCAGAGACTGGTCTTGAAGAGCAGCTTAGCGAAAGAAACCCTCTCTGAGTTCTTGGGCACGTTCATC
TTGATTGTCCTTGGATGTGGCTGTGTTGCCCAAGCTATTCTCAGTCGAGGACGTTTTGGAGGGGTCATCACTATCAATGTTGGATTTTCAATGGCAGTTGCAATG
GCCATTTATGTGGCTGGCGGTGTCTCTGGTGGTCACATCAACCCAGCTGTGTCTTTAGCAATGTGTCTCTTTGGACGGATGAAATGGTTCAAATTGCCATTTTAT
GTGGGAGCCCAGTTCTTGGGAGCCTTTGTGGGGGCTGCAACCGTCTTTGGCATTTACTATGATGGACTTATGTCCTTTGCTGGTGGAAAACTGCTGATCGTGGGA
GAAAATGCAACAGCACACATTTTTGCAACATACCCAGCTCCGTATCTATCTCTGGCGAACGCATTTGCAGATCAAGTGGTGGCCACCATGATACTCCTCATAATC
GTCTTTGCCATCTTTGACTCCAGAAACTTGGGAGCCCCCAGAGGCCTAGAGCCCATTGCCATCGGCCTCCTGATTATTGTCATTGCTTCCTCCCTGGGACTGAAC
AGTGGCTGTGCCATGAACCCAGCTCGAGACCTGAGTCCCAGACTTTTCACTGCCTTGGCAGGCTGGGGGTTTGAAGTCTTCAGAGCTGGAAACAACTTCTGGTGG
ATTCCTGTAGTGGGCCCTTTGGTTGGTGCTGTCATTGGAGGCCTCATCTATGTTCTTGTCATTGAAATCCACCATCCAGAGCCTGACTCAGTCTTTAAGACAGAA
CAATCTGAGGACAAACCAGAGAAATATGAACTCAGTGTCATCATGTAG
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ATGCAGCCTGAGGGAGCAGAAAAGGGAAAAAGCTTCAAGCAGAGACTGGTCTTGAAGAGCAGCTTAGCGAAAGAAACCCTCTCTGAGTTCTTGGGCACGTTCATC
TTGATTGTCCTTGGATGTGGCTGTGTTGCCCAAGCTATTCTCAGTCGAGGACGTTTTGGAGGGGTCATCACTATCAATGTTGGATTTTCAATGGCAGTTGCAATG
GCCATTTATGTGGCTGGCGGTGTCTCTGGTGGTCACATCAACCCAGCTGTGTCTTTAGCAATGTGTCTCTTTGGACGGATGAAATGGTTCAAATTGCCATTTTAT
GTGGGAGCCCAGTTCTTGGGAGCCTTTGTGGGGGCTGCAACCGTCTTTGGCATTTACTATGATGGACTTATGTCCTTTGCTGGTGGAAAACTGCTGATCGTGGGA
GAAAATGCAACAGCACACATTTTTGCAACATACCCAGCTCCGTATCTATCTCTGGCGAACGCATTTGCAGATCAAGTGGTGGCCACCATGATACTCCTCATAATC
GTCTTTGCCATCTTTGACTCCAGAAACTTGGGAGCCCCCAGAGGCCTAGAGCCCATTGCCATCGGCCTCCTGATTATTGTCATTGCTTCCTCCCTGGGACTGAAC
AGTGGCTGTGCCATGAACCCAGCTCGAGACCTGAGTCCCAGACTTTTCACTGCCTTGGCAGGCTGGGGGTTTGAAGTCTTCAGAGCTGGAAACAACTTCTGGTGG
ATTCCTGTAGTGGGCCCTTTGGTTGGTGCTGTCATTGGAGGCCTCATCTATGTTCTTGTCATTGAAATCCACCATCCAGAGCCTGACTCAGTCTTTAAGACAGAA
CAATCTGAGGACAAACCAGAGAAATATGAACTCAGTGTCATCATGTAG
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>AQP9|366|protein
MQPEGAEKGKSFKQRLVLKSSLAKETLSEFLGTFILIVLGCGCVAQAILSRGRFGGVITINVGFSMAVAMAIYVAGGVSGGHINPAVSLAMCLFGRMKWFKLPFY
VGAQFLGAFVGAATVFGIYYDGLMSFAGGKLLIVGENATAHIFATYPAPYLSLANAFADQVVATMILLIIVFAIFDSRNLGAPRGLEPIAIGLLIIVIASSLGLN
SGCAMNPARDLSPRLFTALAGWGFEVFRAGNNFWWIPVVGPLVGAVIGGLIYVLVIEIHHPEPDSVFKTEQSEDKPEKYELSVIM
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MQPEGAEKGKSFKQRLVLKSSLAKETLSEFLGTFILIVLGCGCVAQAILSRGRFGGVITINVGFSMAVAMAIYVAGGVSGGHINPAVSLAMCLFGRMKWFKLPFY
VGAQFLGAFVGAATVFGIYYDGLMSFAGGKLLIVGENATAHIFATYPAPYLSLANAFADQVVATMILLIIVFAIFDSRNLGAPRGLEPIAIGLLIIVIASSLGLN
SGCAMNPARDLSPRLFTALAGWGFEVFRAGNNFWWIPVVGPLVGAVIGGLIYVLVIEIHHPEPDSVFKTEQSEDKPEKYELSVIM
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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 (3) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
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 | ||||||
| Smith, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top