Evidence Details for CA5A
Basic Information Top
| Gene Symbol: | CA5A ( CA5,CAV,CAVA ) |
|---|---|
| Gene Full Name: | carbonic anhydrase VA, mitochondrial |
| Band: | 16q24.2 |
| Quick Links | Entrez ID:763; OMIM: 114761; Uniprot ID:CAH5A_HUMAN; ENSEMBL ID: ENSG00000174990; HGNC ID: 1377 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CA5A|763|nucleotide
ATGTTGGGGAGGAACACTTGGAAGACCTCAGCTTTCTCCTTCTTGGTTGAGCAGATGTGGGCCCCTCTCTGGAGTCGTTCGATGAGGCCAGGGCGATGGTGTTCT
CAGCGTTCCTGTGCATGGCAAACCAGCAATAACACTTTGCACCCACTCTGGACGGTCCCGGTCTCCGTGCCAGGGGGCACCCGGCAGTCTCCTATTAACATCCAG
TGGAGGGACAGCGTCTATGACCCCCAGCTGAAGCCACTCAGGGTCTCCTATGAAGCGGCATCCTGCCTGTACATCTGGAACACTGGCTACCTCTTCCAGGTGGAA
TTTGACGATGCCACCGAGGCATCAGGAATTAGTGGTGGGCCCTTGGAAAACCACTACAGACTGAAGCAATTTCACTTCCACTGGGGAGCAGTGAACGAGGGGGGC
TCAGAGCACACAGTGGACGGCCACGCGTACCCCGCAGAGCTGCATTTAGTTCACTGGAATTCTGTGAAATACCAAAATTACAAGGAAGCTGTCGTGGGAGAGAAT
GGTTTGGCTGTGATAGGCGTGTTTTTAAAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGACGCGCGGGCG
GCCATGCGCCCCTTCGACCCCTCCACTCTGCTGCCCACCTGCTGGGATTACTGGACCTACGCGGGCTCGCTCACCACCCCGCCGCTGACCGAGTCGGTCACCTGG
ATCATCCAGAAGGAGCCCGTTGAAGTGGCCCCAAGCCAGCTCTCTGCATTTCGTACTCTCCTGTTTTCTGCACTTGGTGAAGAGGAGAAGATGATGGTGAACAAC
TATCGCCCACTTCAACCCTTGATGAACCGGAAGGTCTGGGCGTCCTTCCAGGCCACTAATGAGGGCACAAGGTCCTAG
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ATGTTGGGGAGGAACACTTGGAAGACCTCAGCTTTCTCCTTCTTGGTTGAGCAGATGTGGGCCCCTCTCTGGAGTCGTTCGATGAGGCCAGGGCGATGGTGTTCT
CAGCGTTCCTGTGCATGGCAAACCAGCAATAACACTTTGCACCCACTCTGGACGGTCCCGGTCTCCGTGCCAGGGGGCACCCGGCAGTCTCCTATTAACATCCAG
TGGAGGGACAGCGTCTATGACCCCCAGCTGAAGCCACTCAGGGTCTCCTATGAAGCGGCATCCTGCCTGTACATCTGGAACACTGGCTACCTCTTCCAGGTGGAA
TTTGACGATGCCACCGAGGCATCAGGAATTAGTGGTGGGCCCTTGGAAAACCACTACAGACTGAAGCAATTTCACTTCCACTGGGGAGCAGTGAACGAGGGGGGC
TCAGAGCACACAGTGGACGGCCACGCGTACCCCGCAGAGCTGCATTTAGTTCACTGGAATTCTGTGAAATACCAAAATTACAAGGAAGCTGTCGTGGGAGAGAAT
GGTTTGGCTGTGATAGGCGTGTTTTTAAAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGACGCGCGGGCG
GCCATGCGCCCCTTCGACCCCTCCACTCTGCTGCCCACCTGCTGGGATTACTGGACCTACGCGGGCTCGCTCACCACCCCGCCGCTGACCGAGTCGGTCACCTGG
ATCATCCAGAAGGAGCCCGTTGAAGTGGCCCCAAGCCAGCTCTCTGCATTTCGTACTCTCCTGTTTTCTGCACTTGGTGAAGAGGAGAAGATGATGGTGAACAAC
TATCGCCCACTTCAACCCTTGATGAACCGGAAGGTCTGGGCGTCCTTCCAGGCCACTAATGAGGGCACAAGGTCCTAG
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>CA5A|763|protein
MLGRNTWKTSAFSFLVEQMWAPLWSRSMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQLKPLRVSYEAASCLYIWNTGYLFQVE
FDDATEASGISGGPLENHYRLKQFHFHWGAVNEGGSEHTVDGHAYPAELHLVHWNSVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARA
AMRPFDPSTLLPTCWDYWTYAGSLTTPPLTESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNYRPLQPLMNRKVWASFQATNEGTRS
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MLGRNTWKTSAFSFLVEQMWAPLWSRSMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQLKPLRVSYEAASCLYIWNTGYLFQVE
FDDATEASGISGGPLENHYRLKQFHFHWGAVNEGGSEHTVDGHAYPAELHLVHWNSVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARA
AMRPFDPSTLLPTCWDYWTYAGSLTTPPLTESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNYRPLQPLMNRKVWASFQATNEGTRS
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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 (2) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (3) |
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 |
| Willemsen, 2010 | - | SNP microarray | | | ASD | 3 | - | - | - | - | - | - |
Linkage Studies Top