Evidence Details for XRCC6BP1
Basic Information Top
| Gene Symbol: | XRCC6BP1 ( KUB3,MGC134817,MGC134818 ) |
|---|---|
| Gene Full Name: | XRCC6 binding protein 1 |
| Band: | 12q14.1 |
| Quick Links | Entrez ID:91419; OMIM: NA; Uniprot ID:ATP23_HUMAN; ENSEMBL ID: ENSG00000166896; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>XRCC6BP1|91419|nucleotide
ATGGCGGGAGCTCCGGACGAGCGCCGGCGGGGCCCCGCGGCAGGGGAGCAGCTGCAGCAGCAACACGTCTCTTGCCAGGTCTTCCCCGAGCGTCTGGCCCAGGGG
AATCCCCAGCAAGGGTTCTTCTCCAGCTTCTTCACCAGCAACCAGAAGTGCCAGCTTAGGCTCCTGAAGACGCTGGAGACAAATCCATATGTCAAACTTCTGCTT
GATGCTATGAAACACTCAGGTTGTGCTGTTAACAAAGATAGACACTTTTCTTGCGAAGACTGTAATGGAAATGTCAGTGGAGGTTTTGATGCTTCAACATCTCAG
ATAGTTTTGTGCCAGAATAATATCCATAATCAGGCCCATATGAACAGAGTGGTCACACACGAGCTTATTCATGCATTTGATCATTGTCGTGCCCATGTCGACTGG
TTCACCAACATCAGACATTTGGCGTGCTCAGAGGTTCGAGCTGCTAACCTTAGTGGAGACTGCTCACTTGTCAATGAAATATTCAGGTTACATTTTGGATTAAAA
CAACACCACCAGACTTGTGTGCGAGACAGAGCCACTCTTTCTATCCTGGCTGTTAGGAATATCAGCAAAGAAGTAGCTAAAAAGGCTGTTGATGAAGTTTTTGAA
TCTTGTTTCAATGACCATGAACCTTTTGGAAGGATCCCACATAACAAGACTTATGCAAGATATGCTCACAGAGACTTTGAAAACCGTGATCGGTATTATTCAAAT
ATATGA
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ATGGCGGGAGCTCCGGACGAGCGCCGGCGGGGCCCCGCGGCAGGGGAGCAGCTGCAGCAGCAACACGTCTCTTGCCAGGTCTTCCCCGAGCGTCTGGCCCAGGGG
AATCCCCAGCAAGGGTTCTTCTCCAGCTTCTTCACCAGCAACCAGAAGTGCCAGCTTAGGCTCCTGAAGACGCTGGAGACAAATCCATATGTCAAACTTCTGCTT
GATGCTATGAAACACTCAGGTTGTGCTGTTAACAAAGATAGACACTTTTCTTGCGAAGACTGTAATGGAAATGTCAGTGGAGGTTTTGATGCTTCAACATCTCAG
ATAGTTTTGTGCCAGAATAATATCCATAATCAGGCCCATATGAACAGAGTGGTCACACACGAGCTTATTCATGCATTTGATCATTGTCGTGCCCATGTCGACTGG
TTCACCAACATCAGACATTTGGCGTGCTCAGAGGTTCGAGCTGCTAACCTTAGTGGAGACTGCTCACTTGTCAATGAAATATTCAGGTTACATTTTGGATTAAAA
CAACACCACCAGACTTGTGTGCGAGACAGAGCCACTCTTTCTATCCTGGCTGTTAGGAATATCAGCAAAGAAGTAGCTAAAAAGGCTGTTGATGAAGTTTTTGAA
TCTTGTTTCAATGACCATGAACCTTTTGGAAGGATCCCACATAACAAGACTTATGCAAGATATGCTCACAGAGACTTTGAAAACCGTGATCGGTATTATTCAAAT
ATATGA
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>XRCC6BP1|91419|protein
MAGAPDERRRGPAAGEQLQQQHVSCQVFPERLAQGNPQQGFFSSFFTSNQKCQLRLLKTLETNPYVKLLLDAMKHSGCAVNKDRHFSCEDCNGNVSGGFDASTSQ
IVLCQNNIHNQAHMNRVVTHELIHAFDHCRAHVDWFTNIRHLACSEVRAANLSGDCSLVNEIFRLHFGLKQHHQTCVRDRATLSILAVRNISKEVAKKAVDEVFE
SCFNDHEPFGRIPHNKTYARYAHRDFENRDRYYSNI
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MAGAPDERRRGPAAGEQLQQQHVSCQVFPERLAQGNPQQGFFSSFFTSNQKCQLRLLKTLETNPYVKLLLDAMKHSGCAVNKDRHFSCEDCNGNVSGGFDASTSQ
IVLCQNNIHNQAHMNRVVTHELIHAFDHCRAHVDWFTNIRHLACSEVRAANLSGDCSLVNEIFRLHFGLKQHHQTCVRDRATLSILAVRNISKEVAKKAVDEVFE
SCFNDHEPFGRIPHNKTYARYAHRDFENRDRYYSNI
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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 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (4) |
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 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top