Evidence Details for SLC26A5
Basic Information Top
| Gene Symbol: | SLC26A5 ( DFNB61,MGC118886,MGC118887,MGC118888,MGC118889,PRES ) |
|---|---|
| Gene Full Name: | solute carrier family 26, member 5 (prestin) |
| Band: | 7q22.1 |
| Quick Links | Entrez ID:375611; OMIM: 604943; Uniprot ID:S26A5_HUMAN; ENSEMBL ID: ENSG00000170615; HGNC ID: 9359 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC26A5|375611|nucleotide
ATGGATCATGCTGAAGAAAATGAAATCCTTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCATCCGGTCCTCCAGGAAAGACTACACACAAAG
GACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGTACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAACTAAATGG
CTGCCAGCATACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCTTCCTCAAGGCTTAGCCTTTGCAATGCTGGCA
GCTGTGCCTCCAATATTTGGCCTGTACTCTTCATTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTGCTGTTATT
AGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCCAGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGA
GTGAAAGTCGCCATGTCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTTGTGGCCATATATCTCACAGAGCCTCTGGTC
CGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCACCTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATCTTTTCCGTGGTGTAT
AGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGCTGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAG
AGATTTAAAGAGAAATTGCCGGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAACTTGAAAGAATCATACAATGTG
GATGTCGTTGGAACACTTCCTCTAGGGCTGCTACCTCCAGCCAATCCGGACACCAGCCTCTTCCACCTTGTGTACGTAGATGCCATTGCCATAGCCATCGTTGGA
TTTTCAGTGACCATCTCCATGGCCAAGACCTTAGCAAATAAACATGGCTACCAGGTTGACGGCAATCAGGAGCTCATTGCCCTGGGACTGTGCAATTCCATTGGC
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ATGGATCATGCTGAAGAAAATGAAATCCTTGCAGCAACCCAGAGGTACTATGTGGAAAGGCCTATCTTTAGTCATCCGGTCCTCCAGGAAAGACTACACACAAAG
GACAAGGTTCCTGATTCCATTGCGGATAAGCTGAAACAGGCATTCACATGTACTCCTAAAAAAATAAGAAATATCATTTATATGTTCCTACCCATAACTAAATGG
CTGCCAGCATACAAATTCAAGGAATATGTGTTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCTTCCTCAAGGCTTAGCCTTTGCAATGCTGGCA
GCTGTGCCTCCAATATTTGGCCTGTACTCTTCATTTTACCCTGTTATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTGCTGTTATT
AGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCCAGGAGGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGA
GTGAAAGTCGCCATGTCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTTGTGGCCATATATCTCACAGAGCCTCTGGTC
CGTGGGTTTACCACCGCAGCAGCTGTGCATGTCTTCACCTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATCTTTTCCGTGGTGTAT
AGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGTTCCCTAGGCGTCGGGCTGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAG
AGATTTAAAGAGAAATTGCCGGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGAACTGGCATTTCAGCTGGGTTTAACTTGAAAGAATCATACAATGTG
GATGTCGTTGGAACACTTCCTCTAGGGCTGCTACCTCCAGCCAATCCGGACACCAGCCTCTTCCACCTTGTGTACGTAGATGCCATTGCCATAGCCATCGTTGGA
TTTTCAGTGACCATCTCCATGGCCAAGACCTTAGCAAATAAACATGGCTACCAGGTTGACGGCAATCAGGAGCTCATTGCCCTGGGACTGTGCAATTCCATTGGC
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>SLC26A5|375611|protein
MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKLKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYVLGDLVSGISTGVLQLPQGLAFAMLA
AVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPGGVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLV
RGFTTAAAVHVFTSMLKYLFGVKTKRYSGIFSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNV
DVVGTLPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRSLVQEGTGGKTQLAGCLASLM
ILLVILATGFLFESLPQTIWLTTFVSSLFLGLDYGLITAVIIALLTVIYRTQSPSYKVLGKLPETDVYIDIDAYEEVKEIPGIKIFQINAPIYYANSDLYSNALK
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MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKLKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYVLGDLVSGISTGVLQLPQGLAFAMLA
AVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPGGVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLV
RGFTTAAAVHVFTSMLKYLFGVKTKRYSGIFSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNV
DVVGTLPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRSLVQEGTGGKTQLAGCLASLM
ILLVILATGFLFESLPQTIWLTTFVSSLFLGLDYGLITAVIIALLTVIYRTQSPSYKVLGKLPETDVYIDIDAYEEVKEIPGIKIFQINAPIYYANSDLYSNALK
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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 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top