Evidence Details for ATP8B2
Basic Information Top
| Gene Symbol: | ATP8B2 ( ATPID,DKFZp434M0219,KIAA1137 ) |
|---|---|
| Gene Full Name: | ATPase, class I, type 8B, member 2 |
| Band: | 1q21.3 |
| Quick Links | Entrez ID:57198; OMIM: 605867; Uniprot ID:AT8B2_HUMAN; ENSEMBL ID: ENSG00000143515; HGNC ID: 13534 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ATP8B2|57198|nucleotide
ATGGCAGTGTGTGCAAAAAAGCGCCCCCCAGAAGAAGAAAGGAGGGCGCGGGCTAATGACCGAGAATACAATGAGAAATTCCAGTATGCGAGTAACTGCATCAAG
ACCTCCAAGTACAATATTCTCACCTTCCTGCCTGTCAACCTCTTTGAGCAGTTCCAGGAAGTTGCCAACACTTACTTCCTGTTCCTCCTCATTCTGCAGTTGATC
CCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATTTCCGCCACAAG
AGCGATAACCAGGTGAATAACCGCCAGTCTCAGGTGCTGATCAATGGAATCCTCCAGCAGGAGCAGTGGATGAATGTCTGTGTTGGTGATATTATCAAGCTAGAA
AATAACCAGTTTGTGGCGGCGGATCTCCTCCTCCTTTCCAGCAGTGAGCCCCATGGGCTGTGTTACATAGAGACAGCAGAACTTGATGGCGAGACCAACATGAAA
GTACGTCAGGCGATTCCAGTCACCTCAGAATTGGGAGACATCAGTAAGCTTGCCAAGTTTGACGGTGAAGTGATCTGTGAACCTCCCAACAACAAACTGGACAAA
TTCAGCGGAACCCTCTACTGGAAGGAAAATAAGTTCCCTCTGAGCAACCAGAACATGCTGCTGCGGGGCTGTGTGCTGCGAAACACCGAGTGGTGCTTCGGGCTG
GTCATCTTTGCAGGTCCCGACACTAAGCTGATGCAAAACAGCGGCAGAACAAAGTTCAAAAGAACGAGTATCGATCGCCTAATGAATACCCTGGTGCTCTGGATT
TTTGGATTCCTGGTTTGCATGGGGGTGATCCTGGCCATTGGCAATGCCATCTGGGAGCACGAGGTGGGGATGCGTTTCCAGGTCTACCTGCCGTGGGATGAGGCA
GTGGACAGTGCCTTCTTCTCTGGCTTCCTCTCCTTCTGGTCCTACATCATCATCCTCAACACCGTTGTGCCCATTTCACTCTATGTCAGGTATGTGCCTTCTCTG
ACCTGGGGTCTCTCCAGGGAGTCAGGCGGTCCCATAGAACTTTTCTTTTCTATGAAGATGAAGTCCTTGAGAAGTAACGAGAAGTCCTCTTCTTCCTGTACTGTA
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ATGGCAGTGTGTGCAAAAAAGCGCCCCCCAGAAGAAGAAAGGAGGGCGCGGGCTAATGACCGAGAATACAATGAGAAATTCCAGTATGCGAGTAACTGCATCAAG
ACCTCCAAGTACAATATTCTCACCTTCCTGCCTGTCAACCTCTTTGAGCAGTTCCAGGAAGTTGCCAACACTTACTTCCTGTTCCTCCTCATTCTGCAGTTGATC
CCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATTTCCGCCACAAG
AGCGATAACCAGGTGAATAACCGCCAGTCTCAGGTGCTGATCAATGGAATCCTCCAGCAGGAGCAGTGGATGAATGTCTGTGTTGGTGATATTATCAAGCTAGAA
AATAACCAGTTTGTGGCGGCGGATCTCCTCCTCCTTTCCAGCAGTGAGCCCCATGGGCTGTGTTACATAGAGACAGCAGAACTTGATGGCGAGACCAACATGAAA
GTACGTCAGGCGATTCCAGTCACCTCAGAATTGGGAGACATCAGTAAGCTTGCCAAGTTTGACGGTGAAGTGATCTGTGAACCTCCCAACAACAAACTGGACAAA
TTCAGCGGAACCCTCTACTGGAAGGAAAATAAGTTCCCTCTGAGCAACCAGAACATGCTGCTGCGGGGCTGTGTGCTGCGAAACACCGAGTGGTGCTTCGGGCTG
GTCATCTTTGCAGGTCCCGACACTAAGCTGATGCAAAACAGCGGCAGAACAAAGTTCAAAAGAACGAGTATCGATCGCCTAATGAATACCCTGGTGCTCTGGATT
TTTGGATTCCTGGTTTGCATGGGGGTGATCCTGGCCATTGGCAATGCCATCTGGGAGCACGAGGTGGGGATGCGTTTCCAGGTCTACCTGCCGTGGGATGAGGCA
GTGGACAGTGCCTTCTTCTCTGGCTTCCTCTCCTTCTGGTCCTACATCATCATCCTCAACACCGTTGTGCCCATTTCACTCTATGTCAGGTATGTGCCTTCTCTG
ACCTGGGGTCTCTCCAGGGAGTCAGGCGGTCCCATAGAACTTTTCTTTTCTATGAAGATGAAGTCCTTGAGAAGTAACGAGAAGTCCTCTTCTTCCTGTACTGTA
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>ATP8B2|57198|protein
MAVCAKKRPPEEERRARANDREYNEKFQYASNCIKTSKYNILTFLPVNLFEQFQEVANTYFLFLLILQLIPQISSLSWFTTIVPLVLVLTITAVKDATDDYFRHK
SDNQVNNRQSQVLINGILQQEQWMNVCVGDIIKLENNQFVAADLLLLSSSEPHGLCYIETAELDGETNMKVRQAIPVTSELGDISKLAKFDGEVICEPPNNKLDK
FSGTLYWKENKFPLSNQNMLLRGCVLRNTEWCFGLVIFAGPDTKLMQNSGRTKFKRTSIDRLMNTLVLWIFGFLVCMGVILAIGNAIWEHEVGMRFQVYLPWDEA
VDSAFFSGFLSFWSYIIILNTVVPISLYVRYVPSLTWGLSRESGGPIELFFSMKMKSLRSNEKSSSSCTVNI
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MAVCAKKRPPEEERRARANDREYNEKFQYASNCIKTSKYNILTFLPVNLFEQFQEVANTYFLFLLILQLIPQISSLSWFTTIVPLVLVLTITAVKDATDDYFRHK
SDNQVNNRQSQVLINGILQQEQWMNVCVGDIIKLENNQFVAADLLLLSSSEPHGLCYIETAELDGETNMKVRQAIPVTSELGDISKLAKFDGEVICEPPNNKLDK
FSGTLYWKENKFPLSNQNMLLRGCVLRNTEWCFGLVIFAGPDTKLMQNSGRTKFKRTSIDRLMNTLVLWIFGFLVCMGVILAIGNAIWEHEVGMRFQVYLPWDEA
VDSAFFSGFLSFWSYIIILNTVVPISLYVRYVPSLTWGLSRESGGPIELFFSMKMKSLRSNEKSSSSCTVNI
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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 (1) | 1 (1) | 0 (0) | 1 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 15 (6) |
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 | ||||||
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Auranen, 2002 | Finland | microsatellite-based genomic screen |  | | autism | 19 | - | 19 | - | 54 | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
1.03489 | Up | 46.4662 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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 |
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
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.