Evidence Details for CLIC3
Basic Information Top
| Gene Symbol: | CLIC3 ( - ) |
|---|---|
| Gene Full Name: | chloride intracellular channel 3 |
| Band: | 9q34.3 |
| Quick Links | Entrez ID:9022; OMIM: 606533; Uniprot ID:CLIC3_HUMAN; ENSEMBL ID: ENSG00000169583; HGNC ID: 2064 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CLIC3|9022|nucleotide
ATGGCGGAGACCAAGCTCCAGCTGTTTGTCAAGGCGAGTGAGGACGGGGAGAGCGTGGGTCACTGCCCCTCCTGCCAGCGGCTCTTCATGGTCCTGCTCCTCAAG
GGCGTACCTTTCACCCTCACCACGGTGGACACGCGCAGGTCCCCGGACGTGCTGAAGGACTTCGCCCCCGGCTCGCAGCTGCCCATCCTGCTCTATGACAGCGAC
GCCAAGACAGACACGCTGCAGATCGAGGACTTTCTGGAGGAGACGCTGGGGCCGCCCGACTTCCCCAGCCTGGCGCCTCGTTACAGGGAGTCCAACACCGCCGGC
AACGACGTTTTCCACAAGTTCTCCGCGTTCATCAAGAACCCGGTGCCCGCGCAGGACGAAGCCCTGTACCAGCAGCTGCTGCGCGCCCTCGCCAGGCTGGACAGC
TACCTGCGCGCGCCCCTGGAGCACGAGCTGGCGGGGGAGCCGCAGCTGCGCGAGTCCCGCCGCCGCTTCCTGGACGGCGACAGGCTCACGCTGGCCGACTGCAGC
CTCCTGCCCAAGCTGCACATCGTCGACACGGTGTGCGCGCACTTCCGCCAGGCGCCCATCCCCGCGGAGCTGCGCGGCGTACGCCGCTACCTGGACAGCGCGATG
CAGGAGAAAGAGTTCAAATACACGTGTCCGCACAGCGCCGAGATCCTGGCGGCCTACCGGCCCGCCGTGCACCCCCGCTAG
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ATGGCGGAGACCAAGCTCCAGCTGTTTGTCAAGGCGAGTGAGGACGGGGAGAGCGTGGGTCACTGCCCCTCCTGCCAGCGGCTCTTCATGGTCCTGCTCCTCAAG
GGCGTACCTTTCACCCTCACCACGGTGGACACGCGCAGGTCCCCGGACGTGCTGAAGGACTTCGCCCCCGGCTCGCAGCTGCCCATCCTGCTCTATGACAGCGAC
GCCAAGACAGACACGCTGCAGATCGAGGACTTTCTGGAGGAGACGCTGGGGCCGCCCGACTTCCCCAGCCTGGCGCCTCGTTACAGGGAGTCCAACACCGCCGGC
AACGACGTTTTCCACAAGTTCTCCGCGTTCATCAAGAACCCGGTGCCCGCGCAGGACGAAGCCCTGTACCAGCAGCTGCTGCGCGCCCTCGCCAGGCTGGACAGC
TACCTGCGCGCGCCCCTGGAGCACGAGCTGGCGGGGGAGCCGCAGCTGCGCGAGTCCCGCCGCCGCTTCCTGGACGGCGACAGGCTCACGCTGGCCGACTGCAGC
CTCCTGCCCAAGCTGCACATCGTCGACACGGTGTGCGCGCACTTCCGCCAGGCGCCCATCCCCGCGGAGCTGCGCGGCGTACGCCGCTACCTGGACAGCGCGATG
CAGGAGAAAGAGTTCAAATACACGTGTCCGCACAGCGCCGAGATCCTGGCGGCCTACCGGCCCGCCGTGCACCCCCGCTAG
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>CLIC3|9022|protein
MAETKLQLFVKASEDGESVGHCPSCQRLFMVLLLKGVPFTLTTVDTRRSPDVLKDFAPGSQLPILLYDSDAKTDTLQIEDFLEETLGPPDFPSLAPRYRESNTAG
NDVFHKFSAFIKNPVPAQDEALYQQLLRALARLDSYLRAPLEHELAGEPQLRESRRRFLDGDRLTLADCSLLPKLHIVDTVCAHFRQAPIPAELRGVRRYLDSAM
QEKEFKYTCPHSAEILAAYRPAVHPR
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MAETKLQLFVKASEDGESVGHCPSCQRLFMVLLLKGVPFTLTTVDTRRSPDVLKDFAPGSQLPILLYDSDAKTDTLQIEDFLEETLGPPDFPSLAPRYRESNTAG
NDVFHKFSAFIKNPVPAQDEALYQQLLRALARLDSYLRAPLEHELAGEPQLRESRRRFLDGDRLTLADCSLLPKLHIVDTVCAHFRQAPIPAELRGVRRYLDSAM
QEKEFKYTCPHSAEILAAYRPAVHPR
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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 (3) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (7) |
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 | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
| Buxbaum, 2001 | USA | microsatellite-based genomic screen | | | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_1 | mixed | lymphoblastoid cell lines | 35 (14.29%) | | | autism | autism | 12 (25.00%) |
2.222 | Up | 0.0217 | |
| ||||||||||||
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | | | autism with early onset | autism | 12 (25.00%) |
2.176 | Up | 0.0375 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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.