Evidence Details for RALGAPB
Basic Information Top
| Gene Symbol: | RALGAPB ( DKFZp686N19168,DKFZp781M2411,FLJ43270,FLJ43928,KIAA1219,RalGAPbeta,dJ1100H13.1 ) |
|---|---|
| Gene Full Name: | Ral GTPase activating protein, beta subunit (non-catalytic) |
| Band: | 20q11.23 |
| Quick Links | Entrez ID:57148; OMIM: NA; Uniprot ID:RLGPB_HUMAN; ENSEMBL ID: ENSG00000170471; HGNC ID: 29221 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RALGAPB|57148|nucleotide
ATGTACTCTGAGTGGAGGTCACTGCATTTGGTGATTCAGAATGATCAAGGCCATACCAGTGTGCTGCACAGCTATCCAGAGAGCGTTGGACGAGAGGTGGCAAAT
GCTGTAGTCCGTCCTCTTGGGCAGGTGTTAGGTACCCCTTCAGTGGCTGGTAGTGAGAATTTGTTAAAAACTGACAAAGAAGTAAAATGGACCATGGAAGTAATT
TGCTATGGACTGACCCTTCCATTGGATGGAGAGACTGTAAAATATTGCGTTGATGTATATACAGACTGGATTATGGCTTTAGTGTTGCCAAAAGATTCTATTCCA
TTGCCAGTTATTAAAGAGCCTAATCAATATGTTCAAACTATACTAAAACACCTACAGAATCTTTTTGTACCAAGACAGGAACAGGGTTCCAGTCAGATTCGACTA
TGCTTACAGGTCCTGAGAGCCATTCAGAAACTGGCCCGTGAGTCATCTCTCATGGCCCGAGAAACTTGGGAAGTCTTACTGTTGTTTCTTCTGCAGATTAACGAC
ATACTTCTGGCCCCACCAACTGTTCAAGGTGGCATTGCTGAGAATCTAGCAGAGAAGTTGATTGGTGTTCTCTTTGAGGTGTGGTTACTAGCTTGTACTCGGTGC
TTCCCAACACCTCCTTATTGGAAAACAGCCAAGGAGATGGTGGCTAACTGGAGGCATCACCCAGCAGTGGTGGAGCAGTGGAGCAAGGTCATTTGTGCACTCACT
TCCAGATTGCTACGCTTTACATATGGTCCTTCATTTCCTGCATTTAAAGTTCCCGATGAAGATGCCAGTCTGATCCCTCCAGAAATGGATAATGAGTGTGTTGCA
CAGACATGGTTTCGCTTTTTACACATGTTAAGTAATCCTGTGGATTTGAGTAACCCAGCTATTATAAGCTCTACTCCCAAATTTCAGGAACAGTTCTTGAATGTG
AGCGGAATGCCGCAAGAATTGAATCAGTATCCCTGCCTTAAACATCTGCCTCAAATATTTTTTCGTGCCATGCGTGGAATCAGCTGTCTGGTGGATGCATTCTTA
GGTATTTCTAGACCCCGATCAGACAGTGCTCCCCCAACACCCGTGAATAGATTAAGTATGCCTCAAAGTGCTGCTGTCAGTACCACCCCCCCACATAACCGGAGG
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ATGTACTCTGAGTGGAGGTCACTGCATTTGGTGATTCAGAATGATCAAGGCCATACCAGTGTGCTGCACAGCTATCCAGAGAGCGTTGGACGAGAGGTGGCAAAT
GCTGTAGTCCGTCCTCTTGGGCAGGTGTTAGGTACCCCTTCAGTGGCTGGTAGTGAGAATTTGTTAAAAACTGACAAAGAAGTAAAATGGACCATGGAAGTAATT
TGCTATGGACTGACCCTTCCATTGGATGGAGAGACTGTAAAATATTGCGTTGATGTATATACAGACTGGATTATGGCTTTAGTGTTGCCAAAAGATTCTATTCCA
TTGCCAGTTATTAAAGAGCCTAATCAATATGTTCAAACTATACTAAAACACCTACAGAATCTTTTTGTACCAAGACAGGAACAGGGTTCCAGTCAGATTCGACTA
TGCTTACAGGTCCTGAGAGCCATTCAGAAACTGGCCCGTGAGTCATCTCTCATGGCCCGAGAAACTTGGGAAGTCTTACTGTTGTTTCTTCTGCAGATTAACGAC
ATACTTCTGGCCCCACCAACTGTTCAAGGTGGCATTGCTGAGAATCTAGCAGAGAAGTTGATTGGTGTTCTCTTTGAGGTGTGGTTACTAGCTTGTACTCGGTGC
TTCCCAACACCTCCTTATTGGAAAACAGCCAAGGAGATGGTGGCTAACTGGAGGCATCACCCAGCAGTGGTGGAGCAGTGGAGCAAGGTCATTTGTGCACTCACT
TCCAGATTGCTACGCTTTACATATGGTCCTTCATTTCCTGCATTTAAAGTTCCCGATGAAGATGCCAGTCTGATCCCTCCAGAAATGGATAATGAGTGTGTTGCA
CAGACATGGTTTCGCTTTTTACACATGTTAAGTAATCCTGTGGATTTGAGTAACCCAGCTATTATAAGCTCTACTCCCAAATTTCAGGAACAGTTCTTGAATGTG
AGCGGAATGCCGCAAGAATTGAATCAGTATCCCTGCCTTAAACATCTGCCTCAAATATTTTTTCGTGCCATGCGTGGAATCAGCTGTCTGGTGGATGCATTCTTA
GGTATTTCTAGACCCCGATCAGACAGTGCTCCCCCAACACCCGTGAATAGATTAAGTATGCCTCAAAGTGCTGCTGTCAGTACCACCCCCCCACATAACCGGAGG
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>RALGAPB|57148|protein
MYSEWRSLHLVIQNDQGHTSVLHSYPESVGREVANAVVRPLGQVLGTPSVAGSENLLKTDKEVKWTMEVICYGLTLPLDGETVKYCVDVYTDWIMALVLPKDSIP
LPVIKEPNQYVQTILKHLQNLFVPRQEQGSSQIRLCLQVLRAIQKLARESSLMARETWEVLLLFLLQINDILLAPPTVQGGIAENLAEKLIGVLFEVWLLACTRC
FPTPPYWKTAKEMVANWRHHPAVVEQWSKVICALTSRLLRFTYGPSFPAFKVPDEDASLIPPEMDNECVAQTWFRFLHMLSNPVDLSNPAIISSTPKFQEQFLNV
SGMPQELNQYPCLKHLPQIFFRAMRGISCLVDAFLGISRPRSDSAPPTPVNRLSMPQSAAVSTTPPHNRRHRAVTVNKATMKTSTVSTAHASKVQHQTSSTSPLS
SPNQTSSEPRPLPAPRRPKVNSILNLFGSWLFDAAFVHCKLHNGINRDSSMTAITTQASMEFRRKGSQMSTDTMVSNPMFDASEFPDNYEAGRAEACGTLCRIFC
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MYSEWRSLHLVIQNDQGHTSVLHSYPESVGREVANAVVRPLGQVLGTPSVAGSENLLKTDKEVKWTMEVICYGLTLPLDGETVKYCVDVYTDWIMALVLPKDSIP
LPVIKEPNQYVQTILKHLQNLFVPRQEQGSSQIRLCLQVLRAIQKLARESSLMARETWEVLLLFLLQINDILLAPPTVQGGIAENLAEKLIGVLFEVWLLACTRC
FPTPPYWKTAKEMVANWRHHPAVVEQWSKVICALTSRLLRFTYGPSFPAFKVPDEDASLIPPEMDNECVAQTWFRFLHMLSNPVDLSNPAIISSTPKFQEQFLNV
SGMPQELNQYPCLKHLPQIFFRAMRGISCLVDAFLGISRPRSDSAPPTPVNRLSMPQSAAVSTTPPHNRRHRAVTVNKATMKTSTVSTAHASKVQHQTSSTSPLS
SPNQTSSEPRPLPAPRRPKVNSILNLFGSWLFDAAFVHCKLHNGINRDSSMTAITTQASMEFRRKGSQMSTDTMVSNPMFDASEFPDNYEAGRAEACGTLCRIFC
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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 (0) | 1 (1) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 12 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen |  | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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.