Evidence Details for GJA8
Basic Information Top
| Gene Symbol: | GJA8 ( CAE,CAE1,CX50,CZP1,MP70 ) |
|---|---|
| Gene Full Name: | gap junction protein, alpha 8, 50kDa |
| Band: | 1q21.2 |
| Quick Links | Entrez ID:2703; OMIM: 600897; Uniprot ID:CXA8_HUMAN; ENSEMBL ID: ENSG00000121634; HGNC ID: 4281 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GJA8|2703|nucleotide
ATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTC
ATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTT
CCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAG
CGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAG
TTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTC
CGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTG
TCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGG
GAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCC
TTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGC
TACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAG
GAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAG
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ATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTC
ATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTT
CCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAG
CGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAG
TTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTC
CGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTG
TCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGG
GAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCC
TTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGC
TACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAG
GAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAG
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>GJA8|2703|protein
MGDWSFLGNILEEVNEHSTVIGRVWLTVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPGCENVCYDEAFPISHIRLWVLQIIFVSTPSLMYVGHAVHYVRMEEK
RKSREAEELGQQAGTNGGPDQGSVKKSSGSKGTKKFRLEGTLLRTYICHIIFKTLFEVGFIVGHYFLYGFRILPLYRCSRWPCPNVVDCFVSRPTEKTIFILFML
SVASVSLFLNVMELGHLGLKGIRSALKRPVEQPLGEIPEKSLHSIAVSSIQKAKGYQLLEEEKIVSHYFPLTEVGMVETSPLPAKPFNQFEEKISTGPLGDLSRG
YQETLPSYAQVGAQEVEGEGPPAEEGAEPEVGEKKEEAERLTTEEQEKVAVPEGEKVETPGVDKEGEKEEPQSEKVSKQGLPAEKTPSLCPELTTDDARPLSRLS
KASSRARSDDLTV
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MGDWSFLGNILEEVNEHSTVIGRVWLTVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPGCENVCYDEAFPISHIRLWVLQIIFVSTPSLMYVGHAVHYVRMEEK
RKSREAEELGQQAGTNGGPDQGSVKKSSGSKGTKKFRLEGTLLRTYICHIIFKTLFEVGFIVGHYFLYGFRILPLYRCSRWPCPNVVDCFVSRPTEKTIFILFML
SVASVSLFLNVMELGHLGLKGIRSALKRPVEQPLGEIPEKSLHSIAVSSIQKAKGYQLLEEEKIVSHYFPLTEVGMVETSPLPAKPFNQFEEKISTGPLGDLSRG
YQETLPSYAQVGAQEVEGEGPPAEEGAEPEVGEKKEEAERLTTEEQEKVAVPEGEKVETPGVDKEGEKEEPQSEKVSKQGLPAEKTPSLCPELTTDDARPLSRLS
KASSRARSDDLTV
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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 (6) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Bucan, 2009 | USA | SNP microarray | |  | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top