Evidence Details for CLCNKB
Basic Information Top
| Gene Symbol: | CLCNKB ( CLCKB,ClC-K2,ClC-Kb,MGC24087,hClC-Kb ) |
|---|---|
| Gene Full Name: | chloride channel Kb |
| Band: | 1p36.13 |
| Quick Links | Entrez ID:1188; OMIM: 602023; Uniprot ID:CLCKB_HUMAN; ENSEMBL ID: ENSG00000184908; HGNC ID: 2027 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CLCNKB|1188|nucleotide
ATGGAGGAGTTTGTGGGGCTGCGTGAAGGCTCCTCAGGGAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGGC
CTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCT
GTTGAGAGTGTGGTCCGAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCT
TTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGAT
ATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGGCCCTTTCGTGCACCTGTCTGTGATG
ATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCC
ACAGTCTTTGCAGCTCCCTTCAGCGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGC
GGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCT
GAGATCTTCTTTTTTGTGGCGCTGGGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTC
AGCTCCAAACTGCTGGCCACCAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCT
CGGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAG
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ATGGAGGAGTTTGTGGGGCTGCGTGAAGGCTCCTCAGGGAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGGC
CTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCT
GTTGAGAGTGTGGTCCGAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCT
TTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGAT
ATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGGCCCTTTCGTGCACCTGTCTGTGATG
ATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCC
ACAGTCTTTGCAGCTCCCTTCAGCGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGC
GGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCT
GAGATCTTCTTTTTTGTGGCGCTGGGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTC
AGCTCCAAACTGCTGGCCACCAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCT
CGGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAG
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>CLCNKB|1188|protein
MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQWLYREIGDSHLLRYLSWTVYPVALVS
FSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGSTLFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVA
TVFAAPFSGVLFSIEVMSSHFSVWDYWRGFFAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRF
SSKLLATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIP
MPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVI
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MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQWLYREIGDSHLLRYLSWTVYPVALVS
FSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGSTLFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVA
TVFAAPFSGVLFSIEVMSSHFSVWDYWRGFFAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRF
SSKLLATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIP
MPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVI
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (3) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| Bucan, 2009 | USA | SNP microarray |  |  | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top