Evidence Details for ATP2A1
Basic Information Top
| Gene Symbol: | ATP2A1 ( ATP2A,SERCA1 ) |
|---|---|
| Gene Full Name: | ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 |
| Band: | 16p11.2 |
| Quick Links | Entrez ID:487; OMIM: 108730; Uniprot ID:AT2A1_HUMAN; ENSEMBL ID: ENSG00000196296; HGNC ID: 811 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ATP2A1|487|nucleotide
ATGGAGGCCGCTCATGCTAAAACCACGGAGGAATGTTTGGCCTATTTTGGGGTGAGTGAGACCACGGGCCTCACCCCGGACCAAGTTAAGCGGAATCTGGAGAAA
TACGGCCTCAATGAGCTCCCTGCTGAGGAAGGGAAGACCCTGTGGGAGCTGGTGATAGAGCAGTTTGAAGACCTCCTGGTGCGGATTCTCCTCCTGGCCGCATGC
ATTTCCTTCGTGCTGGCCTGGTTTGAGGAAGGTGAAGAGACCATCACTGCCTTTGTTGAACCCTTTGTCATCCTCTTGATCCTCATTGCCAATGCCATCGTGGGG
GTTTGGCAGGAGCGGAACGCAGAGAACGCCATCGAGGCCCTGAAGGAGTATGAGCCAGAGATGGGGAAGGTCTACCGGGCTGACCGCAAGTCAGTGCAAAGGATC
AAGGCTCGGGACATCGTCCCTGGGGACATCGTGGAGGTGGCTGTGGGGGACAAAGTCCCTGCAGACATCCGAATCCTCGCCATCAAATCCACCACGCTGCGGGTT
GACCAGTCCATCCTGACAGGCGAGTCTGTATCTGTCATCAAACACACGGAGCCCGTTCCTGACCCCCGAGCTGTCAACCAGGACAAGAAGAACATGCTTTTCTCG
GGCACCAACATTGCAGCCGGCAAGGCCTTGGGCATCGTGGCCACCACTGGTGTGGGCACCGAGATTGGGAAGATCCGAGACCAAATGGCTGCCACAGAACAGGAC
AAGACCCCCTTGCAGCAGAAGCTGGATGAGTTTGGGGAGCAGCTCTCCAAGGTCATCTCCCTCATCTGTGTGGCTGTCTGGCTTATCAACATTGGCCACTTCAAC
GACCCCGTCCATGGGGGCTCCTGGTTCCGCGGGGCCATCTACTACTTTAAGATTGCCGTGGCCTTGGCTGTGGCTGCCATCCCCGAAGGTCTTCCTGCAGTCATC
ACCACCTGCCTGGCCCTGGGTACCCGTCGGATGGCAAAGAAGAATGCCATTGTAAGAAGCTTGCCCTCCGTAGAGACCCTGGGCTGCACCTCTGTCATCTGTTCC
GACAAGACAGGCACCCTCACCACCAACCAGATGTCTGTCTGCAAGATGTTTATCATTGACAAGGTGGATGGGGACATCTGCCTCCTGAATGAGTTCTCCATCACC
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ATGGAGGCCGCTCATGCTAAAACCACGGAGGAATGTTTGGCCTATTTTGGGGTGAGTGAGACCACGGGCCTCACCCCGGACCAAGTTAAGCGGAATCTGGAGAAA
TACGGCCTCAATGAGCTCCCTGCTGAGGAAGGGAAGACCCTGTGGGAGCTGGTGATAGAGCAGTTTGAAGACCTCCTGGTGCGGATTCTCCTCCTGGCCGCATGC
ATTTCCTTCGTGCTGGCCTGGTTTGAGGAAGGTGAAGAGACCATCACTGCCTTTGTTGAACCCTTTGTCATCCTCTTGATCCTCATTGCCAATGCCATCGTGGGG
GTTTGGCAGGAGCGGAACGCAGAGAACGCCATCGAGGCCCTGAAGGAGTATGAGCCAGAGATGGGGAAGGTCTACCGGGCTGACCGCAAGTCAGTGCAAAGGATC
AAGGCTCGGGACATCGTCCCTGGGGACATCGTGGAGGTGGCTGTGGGGGACAAAGTCCCTGCAGACATCCGAATCCTCGCCATCAAATCCACCACGCTGCGGGTT
GACCAGTCCATCCTGACAGGCGAGTCTGTATCTGTCATCAAACACACGGAGCCCGTTCCTGACCCCCGAGCTGTCAACCAGGACAAGAAGAACATGCTTTTCTCG
GGCACCAACATTGCAGCCGGCAAGGCCTTGGGCATCGTGGCCACCACTGGTGTGGGCACCGAGATTGGGAAGATCCGAGACCAAATGGCTGCCACAGAACAGGAC
AAGACCCCCTTGCAGCAGAAGCTGGATGAGTTTGGGGAGCAGCTCTCCAAGGTCATCTCCCTCATCTGTGTGGCTGTCTGGCTTATCAACATTGGCCACTTCAAC
GACCCCGTCCATGGGGGCTCCTGGTTCCGCGGGGCCATCTACTACTTTAAGATTGCCGTGGCCTTGGCTGTGGCTGCCATCCCCGAAGGTCTTCCTGCAGTCATC
ACCACCTGCCTGGCCCTGGGTACCCGTCGGATGGCAAAGAAGAATGCCATTGTAAGAAGCTTGCCCTCCGTAGAGACCCTGGGCTGCACCTCTGTCATCTGTTCC
GACAAGACAGGCACCCTCACCACCAACCAGATGTCTGTCTGCAAGATGTTTATCATTGACAAGGTGGATGGGGACATCTGCCTCCTGAATGAGTTCTCCATCACC
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>ATP2A1|487|protein
MEAAHAKTTEECLAYFGVSETTGLTPDQVKRNLEKYGLNELPAEEGKTLWELVIEQFEDLLVRILLLAACISFVLAWFEEGEETITAFVEPFVILLILIANAIVG
VWQERNAENAIEALKEYEPEMGKVYRADRKSVQRIKARDIVPGDIVEVAVGDKVPADIRILAIKSTTLRVDQSILTGESVSVIKHTEPVPDPRAVNQDKKNMLFS
GTNIAAGKALGIVATTGVGTEIGKIRDQMAATEQDKTPLQQKLDEFGEQLSKVISLICVAVWLINIGHFNDPVHGGSWFRGAIYYFKIAVALAVAAIPEGLPAVI
TTCLALGTRRMAKKNAIVRSLPSVETLGCTSVICSDKTGTLTTNQMSVCKMFIIDKVDGDICLLNEFSITGSTYAPEGEVLKNDKPVRPGQYDGLVELATICALC
NDSSLDFNEAKGVYEKVGEATETALTTLVEKMNVFNTDVRSLSKVERANACNSVIRQLMKKEFTLEFSRDRKSMSVYCSPAKSSRAAVGNKMFVKGAPEGVIDRC
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MEAAHAKTTEECLAYFGVSETTGLTPDQVKRNLEKYGLNELPAEEGKTLWELVIEQFEDLLVRILLLAACISFVLAWFEEGEETITAFVEPFVILLILIANAIVG
VWQERNAENAIEALKEYEPEMGKVYRADRKSVQRIKARDIVPGDIVEVAVGDKVPADIRILAIKSTTLRVDQSILTGESVSVIKHTEPVPDPRAVNQDKKNMLFS
GTNIAAGKALGIVATTGVGTEIGKIRDQMAATEQDKTPLQQKLDEFGEQLSKVISLICVAVWLINIGHFNDPVHGGSWFRGAIYYFKIAVALAVAAIPEGLPAVI
TTCLALGTRRMAKKNAIVRSLPSVETLGCTSVICSDKTGTLTTNQMSVCKMFIIDKVDGDICLLNEFSITGSTYAPEGEVLKNDKPVRPGQYDGLVELATICALC
NDSSLDFNEAKGVYEKVGEATETALTTLVEKMNVFNTDVRSLSKVERANACNSVIRQLMKKEFTLEFSRDRKSMSVYCSPAKSSRAAVGNKMFVKGAPEGVIDRC
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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) | 2 (9) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (9) |
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 | ||||||
| Finelli, 2004 | - | FISH |  | | autistic feature | - | - | - | - | 2 | - | 2 |
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Weiss, 2008 | USA, Ireland | aCGH, SNP microarray | | | ASD | 751 | - | - | - | 2252 | 23502 | 25754 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Gazzellone MJ, 2014 | China | - | | | - | - | - | - | - | 104 | 2108 | 2212 |
| Okamoto N, 2014 | Japanese | - | - | - | autism | - | - | - | - | 2 | - | 2 |
| Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
Linkage Studies Top