Evidence Details for RIBC2
Basic Information Top
| Gene Symbol: | RIBC2 ( C22orf11 ) |
|---|---|
| Gene Full Name: | RIB43A domain with coiled-coils 2 |
| Band: | 22q13.31 |
| Quick Links | Entrez ID:26150; OMIM: NA; Uniprot ID:RIBC2_HUMAN; ENSEMBL ID: ENSG00000128408; HGNC ID: 13241 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RIBC2|26150|nucleotide
ATGGCGGTGGCGCTGCCCAGGGACTTGCGGCAGGACGCCAACCTGGCAAAGAGGAGGCACGCGGAGCTGTGCAGGCAGAAGCGGGTCTTCAACGCCAGAAACAGG
ATAATTGGGGGAGACACTGAAGCCTGGGATGTTCAAGTTCATGACCAGAAGATAAAAGAAGCTACTGAAAAAGCTAGACATGAAACCTTTGCTGCTGAAATGAGG
CAAAATGACAAAATCATGTGCATATTGGAAAACCGGAAAAAGAGGGATAGGAAAAATCTCTGTAGGGCTATCAATGACTTCCAACAGAGCTTTCAGAAGCCAGAA
ACTCGCCGTGAATTTGATCTGTCCGACCCCCTAGCCCTTAAGAAAGATCTTCCAGCCCGGCAGTCAGATAATGATGTTCGGAATACGATATCAGGAATGCAGAAA
TTCATGGGAGAGGATTTAAACTTCCATGAGAGGAAGAAATTCCAAGAGGAACAAAACAGAGAATGGTCTTTGCAGCAGCAAAGGGAATGGAAGAACGCCCGTGCT
GAACAAAAATGCGCAGAGGCCCTCTACACAGAGACAAGGCTGCAGTTTGACGAGACAGCCAAGCACCTCCAGAAGCTGGAAAGCACCACCAGAAAGGCAGTTTGT
GCATCTGTGAAAGACTTCAACAAGAGCCAGGCCATCGAGTCAGTGGAAAGGAAAAAGCAAGAGAAAAAGCAAGAACAAGAGGACAACTTGGCCGAGATCACCAAC
CTCCTGCGTGGGGACCTGCTCTCCGAGAACCCGCAGCAGGCAGCCAGCTCCTTCGGGCCCCACCGCGTGGTCCCTGACCGCTGGAAGGGCATGACCCAGGAGCAG
CTGGAGCAGATCCGCCTAGTCCAGAAGCAGCAAATCCAGGAGAAGCTGAGGCTCCAGGAAGAAAAGCGCCAGCGAGACCTGGACTGGGACCGGCGGAGGATTCAG
GGGGCTCGCGCCACCCTGCTGTTTGAGCGGCAGCAGTGGCGGCGGCAGCGCGACCTGCGCAGAGCTCTGGACAGCAGCAACCTCAGCCTGGCCAAGGAGCAGCAT
TTGCAGAAAAAATATATGAATGAAGTCTATACAAATCAACCCACGGGAGACTATTTCACACAATTTAATACAGGAAGTCGATAA
Show »
ATGGCGGTGGCGCTGCCCAGGGACTTGCGGCAGGACGCCAACCTGGCAAAGAGGAGGCACGCGGAGCTGTGCAGGCAGAAGCGGGTCTTCAACGCCAGAAACAGG
ATAATTGGGGGAGACACTGAAGCCTGGGATGTTCAAGTTCATGACCAGAAGATAAAAGAAGCTACTGAAAAAGCTAGACATGAAACCTTTGCTGCTGAAATGAGG
CAAAATGACAAAATCATGTGCATATTGGAAAACCGGAAAAAGAGGGATAGGAAAAATCTCTGTAGGGCTATCAATGACTTCCAACAGAGCTTTCAGAAGCCAGAA
ACTCGCCGTGAATTTGATCTGTCCGACCCCCTAGCCCTTAAGAAAGATCTTCCAGCCCGGCAGTCAGATAATGATGTTCGGAATACGATATCAGGAATGCAGAAA
TTCATGGGAGAGGATTTAAACTTCCATGAGAGGAAGAAATTCCAAGAGGAACAAAACAGAGAATGGTCTTTGCAGCAGCAAAGGGAATGGAAGAACGCCCGTGCT
GAACAAAAATGCGCAGAGGCCCTCTACACAGAGACAAGGCTGCAGTTTGACGAGACAGCCAAGCACCTCCAGAAGCTGGAAAGCACCACCAGAAAGGCAGTTTGT
GCATCTGTGAAAGACTTCAACAAGAGCCAGGCCATCGAGTCAGTGGAAAGGAAAAAGCAAGAGAAAAAGCAAGAACAAGAGGACAACTTGGCCGAGATCACCAAC
CTCCTGCGTGGGGACCTGCTCTCCGAGAACCCGCAGCAGGCAGCCAGCTCCTTCGGGCCCCACCGCGTGGTCCCTGACCGCTGGAAGGGCATGACCCAGGAGCAG
CTGGAGCAGATCCGCCTAGTCCAGAAGCAGCAAATCCAGGAGAAGCTGAGGCTCCAGGAAGAAAAGCGCCAGCGAGACCTGGACTGGGACCGGCGGAGGATTCAG
GGGGCTCGCGCCACCCTGCTGTTTGAGCGGCAGCAGTGGCGGCGGCAGCGCGACCTGCGCAGAGCTCTGGACAGCAGCAACCTCAGCCTGGCCAAGGAGCAGCAT
TTGCAGAAAAAATATATGAATGAAGTCTATACAAATCAACCCACGGGAGACTATTTCACACAATTTAATACAGGAAGTCGATAA
Show »
>RIBC2|26150|protein
MAVALPRDLRQDANLAKRRHAELCRQKRVFNARNRIIGGDTEAWDVQVHDQKIKEATEKARHETFAAEMRQNDKIMCILENRKKRDRKNLCRAINDFQQSFQKPE
TRREFDLSDPLALKKDLPARQSDNDVRNTISGMQKFMGEDLNFHERKKFQEEQNREWSLQQQREWKNARAEQKCAEALYTETRLQFDETAKHLQKLESTTRKAVC
ASVKDFNKSQAIESVERKKQEKKQEQEDNLAEITNLLRGDLLSENPQQAASSFGPHRVVPDRWKGMTQEQLEQIRLVQKQQIQEKLRLQEEKRQRDLDWDRRRIQ
GARATLLFERQQWRRQRDLRRALDSSNLSLAKEQHLQKKYMNEVYTNQPTGDYFTQFNTGSR
Show »
MAVALPRDLRQDANLAKRRHAELCRQKRVFNARNRIIGGDTEAWDVQVHDQKIKEATEKARHETFAAEMRQNDKIMCILENRKKRDRKNLCRAINDFQQSFQKPE
TRREFDLSDPLALKKDLPARQSDNDVRNTISGMQKFMGEDLNFHERKKFQEEQNREWSLQQQREWKNARAEQKCAEALYTETRLQFDETAKHLQKLESTTRKAVC
ASVKDFNKSQAIESVERKKQEKKQEQEDNLAEITNLLRGDLLSENPQQAASSFGPHRVVPDRWKGMTQEQLEQIRLVQKQQIQEKLRLQEEKRQRDLDWDRRRIQ
GARATLLFERQQWRRQRDLRRALDSSNLSLAKEQHLQKKYMNEVYTNQPTGDYFTQFNTGSR
Show »
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 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Goizet, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS 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.