Evidence Details for RABL2B
Basic Information Top
| Gene Symbol: | RABL2B ( FLJ93981,FLJ98216 ) |
|---|---|
| Gene Full Name: | RAB, member of RAS oncogene family-like 2B |
| Band: | 22q13.33 |
| Quick Links | Entrez ID:11158; OMIM: 605413; Uniprot ID:RBL2B_HUMAN; ENSEMBL ID: ENSG00000079974; HGNC ID: 9800 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RABL2B|11158|nucleotide
ATGGCAGAAGACAAAACCAAACCGAGTGAGTTGGACCAAGGGAAGTATGATGCTGATGACAACGTGAAGATCATCTGCCTGGGAGACAGCGCAGTGGGCAAATCC
AAACTCATGGAGAGATTTCTCATGGATGGCTTTCAGCCACAGCAGCTGTCCACGTACGCCCTGACCCTGTACAAGCACACAGCCACGGTAGATGGAAGGACCATC
CTTGTGGACTTTTGGGACACGGCAGGCCAGGAGCGGTTCCAGAGCATGCATGCCTCCTACTACCACAAGGCCCACGCCTGCATCATGGTGTTTGATGTACAGAGG
AAAGTCACCTATAGGAACCTGAGCACCTGGTATACAGAGCTTCGGGAGTTCAGGCCAGAGATCCCATGCATCGTGGTGGCCAATAAAATTGATGCAGACATAAAC
GTGACCCAAAAAAGCTTCAATTTTGCCAAGAAGTTCTCCCTGCCCCTGTATTTCGTCTCGGCTGCTGATGGTACCAATGTTGTGAAGCTCTTCAATGATGCAATT
CGATTAGCTGTGTCTTACAAACAGAACTCCCAGGACTTCATGGATGAGATTTTTCAGGAGCTCGAGAACTTCAGCTTGGAGCAGGAAGAGGAGGACGTGCCAGAC
CAGGAACAGAGCAGCAGCATCGAGACCCCATCAGAGGAGGCGGCCTCTCCCCACAGCTGA
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ATGGCAGAAGACAAAACCAAACCGAGTGAGTTGGACCAAGGGAAGTATGATGCTGATGACAACGTGAAGATCATCTGCCTGGGAGACAGCGCAGTGGGCAAATCC
AAACTCATGGAGAGATTTCTCATGGATGGCTTTCAGCCACAGCAGCTGTCCACGTACGCCCTGACCCTGTACAAGCACACAGCCACGGTAGATGGAAGGACCATC
CTTGTGGACTTTTGGGACACGGCAGGCCAGGAGCGGTTCCAGAGCATGCATGCCTCCTACTACCACAAGGCCCACGCCTGCATCATGGTGTTTGATGTACAGAGG
AAAGTCACCTATAGGAACCTGAGCACCTGGTATACAGAGCTTCGGGAGTTCAGGCCAGAGATCCCATGCATCGTGGTGGCCAATAAAATTGATGCAGACATAAAC
GTGACCCAAAAAAGCTTCAATTTTGCCAAGAAGTTCTCCCTGCCCCTGTATTTCGTCTCGGCTGCTGATGGTACCAATGTTGTGAAGCTCTTCAATGATGCAATT
CGATTAGCTGTGTCTTACAAACAGAACTCCCAGGACTTCATGGATGAGATTTTTCAGGAGCTCGAGAACTTCAGCTTGGAGCAGGAAGAGGAGGACGTGCCAGAC
CAGGAACAGAGCAGCAGCATCGAGACCCCATCAGAGGAGGCGGCCTCTCCCCACAGCTGA
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>RABL2B|11158|protein
MAEDKTKPSELDQGKYDADDNVKIICLGDSAVGKSKLMERFLMDGFQPQQLSTYALTLYKHTATVDGRTILVDFWDTAGQERFQSMHASYYHKAHACIMVFDVQR
KVTYRNLSTWYTELREFRPEIPCIVVANKIDADINVTQKSFNFAKKFSLPLYFVSAADGTNVVKLFNDAIRLAVSYKQNSQDFMDEIFQELENFSLEQEEEDVPD
QEQSSSIETPSEEAASPHS
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MAEDKTKPSELDQGKYDADDNVKIICLGDSAVGKSKLMERFLMDGFQPQQLSTYALTLYKHTATVDGRTILVDFWDTAGQERFQSMHASYYHKAHACIMVFDVQR
KVTYRNLSTWYTELREFRPEIPCIVVANKIDADINVTQKSFNFAKKFSLPLYFVSAADGTNVVKLFNDAIRLAVSYKQNSQDFMDEIFQELENFSLEQEEEDVPD
QEQSSSIETPSEEAASPHS
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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 (7) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (7) |
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 |
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| 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.