Evidence Details for CA3
Basic Information Top
| Gene Symbol: | CA3 ( CAIII,Car3 ) |
|---|---|
| Gene Full Name: | carbonic anhydrase III, muscle specific |
| Band: | 8q21.2 |
| Quick Links | Entrez ID:761; OMIM: 114750; Uniprot ID:CAH3_HUMAN; ENSEMBL ID: ENSG00000164879; HGNC ID: 1374 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CA3|761|nucleotide
ATGGCCAAGGAGTGGGGCTACGCCAGTCACAACGGTCCTGACCACTGGCATGAACTTTTCCCAAATGCCAAGGGGGAAAACCAGTCGCCCGTTGAGCTGCATACT
AAAGACATCAGGCATGACCCTTCTCTGCAGCCATGGTCTGTGTCTTATGATGGTGGCTCTGCCAAGACCATCCTGAATAATGGGAAGACCTGCCGAGTTGTATTT
GATGATACTTATGATAGGTCAATGCTGAGAGGGGGTCCTCTCCCTGGACCCTACCGACTTCGCCAGTTTCATCTTCACTGGGGCTCTTCGGATGATCATGGCTCT
GAGCACACCGTGGATGGAGTCAAGTATGCAGCGGAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATC
GCTGTGATTGGCATTTTTCTGAAGATAGGACATGAGAATGGCGAGTTCCAGATTTTCCTTGATGCATTGGACAAGATTAAGACAAAGGGCAAGGAGGCGCCCTTC
ACAAAGTTTGACCCATCCTGCCTGTTCCCGGCATGCCGGGACTACTGGACCTACCAGGGCTCATTCACCACGCCGCCCTGCGAGGAATGCATTGTGTGGCTGCTG
CTGAAGGAGCCCATGACCGTGAGCTCTGACCAGATGGCCAAGCTGCGGAGCCTCCTCTCCAGTGCTGAGAACGAGCCCCCAGTGCCTCTTGTGAGCAACTGGCGA
CCTCCACAGCCTATCAATAACAGGGTGGTGAGAGCTTCCTTCAAATGA
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ATGGCCAAGGAGTGGGGCTACGCCAGTCACAACGGTCCTGACCACTGGCATGAACTTTTCCCAAATGCCAAGGGGGAAAACCAGTCGCCCGTTGAGCTGCATACT
AAAGACATCAGGCATGACCCTTCTCTGCAGCCATGGTCTGTGTCTTATGATGGTGGCTCTGCCAAGACCATCCTGAATAATGGGAAGACCTGCCGAGTTGTATTT
GATGATACTTATGATAGGTCAATGCTGAGAGGGGGTCCTCTCCCTGGACCCTACCGACTTCGCCAGTTTCATCTTCACTGGGGCTCTTCGGATGATCATGGCTCT
GAGCACACCGTGGATGGAGTCAAGTATGCAGCGGAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATC
GCTGTGATTGGCATTTTTCTGAAGATAGGACATGAGAATGGCGAGTTCCAGATTTTCCTTGATGCATTGGACAAGATTAAGACAAAGGGCAAGGAGGCGCCCTTC
ACAAAGTTTGACCCATCCTGCCTGTTCCCGGCATGCCGGGACTACTGGACCTACCAGGGCTCATTCACCACGCCGCCCTGCGAGGAATGCATTGTGTGGCTGCTG
CTGAAGGAGCCCATGACCGTGAGCTCTGACCAGATGGCCAAGCTGCGGAGCCTCCTCTCCAGTGCTGAGAACGAGCCCCCAGTGCCTCTTGTGAGCAACTGGCGA
CCTCCACAGCCTATCAATAACAGGGTGGTGAGAGCTTCCTTCAAATGA
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>CA3|761|protein
MAKEWGYASHNGPDHWHELFPNAKGENQSPVELHTKDIRHDPSLQPWSVSYDGGSAKTILNNGKTCRVVFDDTYDRSMLRGGPLPGPYRLRQFHLHWGSSDDHGS
EHTVDGVKYAAELHLVHWNPKYNTFKEALKQRDGIAVIGIFLKIGHENGEFQIFLDALDKIKTKGKEAPFTKFDPSCLFPACRDYWTYQGSFTTPPCEECIVWLL
LKEPMTVSSDQMAKLRSLLSSAENEPPVPLVSNWRPPQPINNRVVRASFK
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MAKEWGYASHNGPDHWHELFPNAKGENQSPVELHTKDIRHDPSLQPWSVSYDGGSAKTILNNGKTCRVVFDDTYDRSMLRGGPLPGPYRLRQFHLHWGSSDDHGS
EHTVDGVKYAAELHLVHWNPKYNTFKEALKQRDGIAVIGIFLKIGHENGEFQIFLDALDKIKTKGKEAPFTKFDPSCLFPACRDYWTYQGSFTTPPCEECIVWLL
LKEPMTVSSDQMAKLRSLLSSAENEPPVPLVSNWRPPQPINNRVVRASFK
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 10 (2) |
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 | ||||||
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS 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.