Evidence Details for RIBC1
Basic Information Top
| Gene Symbol: | RIBC1 ( 2610028I09Rik,FLJ32783,MGC46233 ) |
|---|---|
| Gene Full Name: | RIB43A domain with coiled-coils 1 |
| Band: | Xp11.22 |
| Quick Links | Entrez ID:158787; OMIM: NA; Uniprot ID:RIBC1_HUMAN; ENSEMBL ID: ENSG00000158423; HGNC ID: 26537 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RIBC1|158787|nucleotide
ATGTATAACATAAAACAGTCAACAGATACCAAGGAAGCAGCAGCCATCGAGGCTAGAAGAAATCGAGAAAAAGAGCGACAAAACCGATTCTTCAATGTGCGGAAC
CGAGTCATGGGGGTGGATGTCCAGGCCCTGAACAACCAGGTGGGAGACCGAAAGCGTCGGGAAGCAGCAGAAAGAAGCAAGGAGGCAGCTTATGGTACCAGCCAG
GTGCAGTATGATGTGGTAGTCCAGATGTTAGAGAAGGAAGAGGCAGATCGAACACGTCAGCTGGCCAAGAAAGTCCAGGAGTTTCGGGAGCAGAAGCAGCAGCTC
AAGAACGGGCGTGAATTTAGTCTTTGGGATCCAGGCCAAGTCTGGAAGGGGCTTCCAACCTATCTTAGTTACAGTAATACCTATCCTGGTCCAGCCAGCCTGCAG
TACTTCTCTGGGGAAGACCTAGACAGGGACACACGGCTGAGAATGCAGCAGGGGCAGTTCAGGTACAACTTGGAAAGGCAACAGCAGGAGCAACAGCAAGCCAAG
GTTGATGAGAATTATACAGATGCGCTCAGTAACCAGCTGCGCCTCGCCATGGATGCACAGGCCACCCATCTGGCCAGGCTGGAGGAGTCCTGTCGTGCGGCCATG
ATGTGTGCCATGGCCAACGCCAACAAAGCGCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAG
CACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAG
CAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGAAGCAAGCACACCGTCAGGCTGAGAAAACACTGGATACTGAATGGAAAAGCCAGACTATG
AGCTCAGCCCAGGCAGTGCTGGAGCTAGAAGAGCAGGAGAGGGAATTGTGTGCTGTATTTCAAAGGGGTCTAGGATCCTTCAACCAGCAGCTGGCTAATGAGCAA
AAAGCCCAGCAGGATTACCTGAATTCAGTAATCTACACCAATCAACCTACAGCCCAGTATCACCAGCAGTTTAACACCAGCAGCCGCTAA
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ATGTATAACATAAAACAGTCAACAGATACCAAGGAAGCAGCAGCCATCGAGGCTAGAAGAAATCGAGAAAAAGAGCGACAAAACCGATTCTTCAATGTGCGGAAC
CGAGTCATGGGGGTGGATGTCCAGGCCCTGAACAACCAGGTGGGAGACCGAAAGCGTCGGGAAGCAGCAGAAAGAAGCAAGGAGGCAGCTTATGGTACCAGCCAG
GTGCAGTATGATGTGGTAGTCCAGATGTTAGAGAAGGAAGAGGCAGATCGAACACGTCAGCTGGCCAAGAAAGTCCAGGAGTTTCGGGAGCAGAAGCAGCAGCTC
AAGAACGGGCGTGAATTTAGTCTTTGGGATCCAGGCCAAGTCTGGAAGGGGCTTCCAACCTATCTTAGTTACAGTAATACCTATCCTGGTCCAGCCAGCCTGCAG
TACTTCTCTGGGGAAGACCTAGACAGGGACACACGGCTGAGAATGCAGCAGGGGCAGTTCAGGTACAACTTGGAAAGGCAACAGCAGGAGCAACAGCAAGCCAAG
GTTGATGAGAATTATACAGATGCGCTCAGTAACCAGCTGCGCCTCGCCATGGATGCACAGGCCACCCATCTGGCCAGGCTGGAGGAGTCCTGTCGTGCGGCCATG
ATGTGTGCCATGGCCAACGCCAACAAAGCGCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAG
CACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAG
CAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGAAGCAAGCACACCGTCAGGCTGAGAAAACACTGGATACTGAATGGAAAAGCCAGACTATG
AGCTCAGCCCAGGCAGTGCTGGAGCTAGAAGAGCAGGAGAGGGAATTGTGTGCTGTATTTCAAAGGGGTCTAGGATCCTTCAACCAGCAGCTGGCTAATGAGCAA
AAAGCCCAGCAGGATTACCTGAATTCAGTAATCTACACCAATCAACCTACAGCCCAGTATCACCAGCAGTTTAACACCAGCAGCCGCTAA
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>RIBC1|158787|protein
MYNIKQSTDTKEAAAIEARRNREKERQNRFFNVRNRVMGVDVQALNNQVGDRKRREAAERSKEAAYGTSQVQYDVVVQMLEKEEADRTRQLAKKVQEFREQKQQL
KNGREFSLWDPGQVWKGLPTYLSYSNTYPGPASLQYFSGEDLDRDTRLRMQQGQFRYNLERQQQEQQQAKVDENYTDALSNQLRLAMDAQATHLARLEESCRAAM
MCAMANANKAQAAVQAGRQRCERQREQKANLAEIQHQSTSDLLTENPQVAQHPMAPYRVLPYCWKGMTPEQQAAIRKEQEVQRSKKQAHRQAEKTLDTEWKSQTM
SSAQAVLELEEQERELCAVFQRGLGSFNQQLANEQKAQQDYLNSVIYTNQPTAQYHQQFNTSSR
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MYNIKQSTDTKEAAAIEARRNREKERQNRFFNVRNRVMGVDVQALNNQVGDRKRREAAERSKEAAYGTSQVQYDVVVQMLEKEEADRTRQLAKKVQEFREQKQQL
KNGREFSLWDPGQVWKGLPTYLSYSNTYPGPASLQYFSGEDLDRDTRLRMQQGQFRYNLERQQQEQQQAKVDENYTDALSNQLRLAMDAQATHLARLEESCRAAM
MCAMANANKAQAAVQAGRQRCERQREQKANLAEIQHQSTSDLLTENPQVAQHPMAPYRVLPYCWKGMTPEQQAAIRKEQEVQRSKKQAHRQAEKTLDTEWKSQTM
SSAQAVLELEEQERELCAVFQRGLGSFNQQLANEQKAQQDYLNSVIYTNQPTAQYHQQFNTSSR
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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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
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 | ||||||
| Edens, 2011 | Austria | FISH, aCGH |  |  | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top