Evidence Details for CLCN5
Basic Information Top
| Gene Symbol: | CLCN5 ( CLC5,CLCK2,DENTS,NPHL1,NPHL2,XLRH,XRN,hCIC-K2,hClC-K2 ) |
|---|---|
| Gene Full Name: | chloride channel 5 |
| Band: | Xp11.23 |
| Quick Links | Entrez ID:1184; OMIM: 300008; Uniprot ID:CLCN5_HUMAN; ENSEMBL ID: ENSG00000171365; HGNC ID: 2023 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CLCN5|1184|nucleotide
ATGGACTTCTTGGAGGAGCCAATCCCTGGTGTAGGGACCTATGATGATTTCAATACAATTGATTGGGTGAGAGAGAAGTCTCGAGACCGGGATAGGCACCGAGAG
ATTACCAATAAAAGCAAAGAGTCAACATGGGCCTTAATTCACAGTGTGAGTGATGCTTTTTCCGGCTGGTTGTTGATGCTCCTTATTGGGCTTTTATCAGGTTCG
TTAGCTGGTTTGATAGACATCTCTGCTCATTGGATGACAGACTTAAAAGAAGGTATATGCACAGGGGGATTCTGGTTTAACCATGAACATTGTTGCTGGAACTCT
GAGCATGTCACCTTTGAAGAGAGAGACAAATGTCCAGAGTGGAATAGTTGGTCCCAGCTTATCATCAGCACAGATGAGGGAGCCTTTGCCTACATAGTCAATTAT
TTCATGTACGTCCTCTGGGCTCTCCTATTTGCCTTCCTTGCCGTATCTCTTGTCAAGGTGTTTGCGCCTTATGCCTGTGGCTCTGGAATCCCTGAGATAAAAACT
ATCTTGAGTGGTTTCATTATTAGGGGCTATTTGGGTAAGTGGACTCTGGTTATCAAAACCATCACCTTGGTGCTGGCAGTGTCGTCTGGCTTGAGCCTGGGCAAA
GAGGGCCCTCTAGTGCACGTGGCTTGCTGCTGTGGGAACATCCTGTGCCACTGCTTCAACAAATACAGGAAGAATGAAGCCAAGCGCAGAGAGGTCTTGTCGGCT
GCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGT
TCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCAT
CTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACC
CAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATT
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ATGGACTTCTTGGAGGAGCCAATCCCTGGTGTAGGGACCTATGATGATTTCAATACAATTGATTGGGTGAGAGAGAAGTCTCGAGACCGGGATAGGCACCGAGAG
ATTACCAATAAAAGCAAAGAGTCAACATGGGCCTTAATTCACAGTGTGAGTGATGCTTTTTCCGGCTGGTTGTTGATGCTCCTTATTGGGCTTTTATCAGGTTCG
TTAGCTGGTTTGATAGACATCTCTGCTCATTGGATGACAGACTTAAAAGAAGGTATATGCACAGGGGGATTCTGGTTTAACCATGAACATTGTTGCTGGAACTCT
GAGCATGTCACCTTTGAAGAGAGAGACAAATGTCCAGAGTGGAATAGTTGGTCCCAGCTTATCATCAGCACAGATGAGGGAGCCTTTGCCTACATAGTCAATTAT
TTCATGTACGTCCTCTGGGCTCTCCTATTTGCCTTCCTTGCCGTATCTCTTGTCAAGGTGTTTGCGCCTTATGCCTGTGGCTCTGGAATCCCTGAGATAAAAACT
ATCTTGAGTGGTTTCATTATTAGGGGCTATTTGGGTAAGTGGACTCTGGTTATCAAAACCATCACCTTGGTGCTGGCAGTGTCGTCTGGCTTGAGCCTGGGCAAA
GAGGGCCCTCTAGTGCACGTGGCTTGCTGCTGTGGGAACATCCTGTGCCACTGCTTCAACAAATACAGGAAGAATGAAGCCAAGCGCAGAGAGGTCTTGTCGGCT
GCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGT
TCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCAT
CTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACC
CAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATT
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>CLCN5|1184|protein
MDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHSVSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNS
EHVTFEERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGK
EGPLVHVACCCGNILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGNSRLVLFYVEFHTPWH
LFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTTQLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTSKGGELPDRPA
GVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLGVGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIM
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MDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHSVSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNS
EHVTFEERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGK
EGPLVHVACCCGNILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGNSRLVLFYVEFHTPWH
LFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTTQLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTSKGGELPDRPA
GVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLGVGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIM
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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 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 3 (6) |
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 | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Edens, 2011 | Honduras | aCGH | |  | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Chung, 2011 | - | SNP microarray | | | ASD | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top