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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for RALGAPB |
Gene summary |
Gene information | Gene symbol | RALGAPB | Gene ID | 57148 |
Gene name | Ral GTPase activating protein non-catalytic beta subunit | |
Synonyms | KIAA1219|RalGAPbeta | |
Cytomap | 20q11.23 | |
Type of gene | protein-coding | |
Description | ral GTPase-activating protein subunit betaRal GTPase activating protein, beta subunit (non-catalytic) | |
Modification date | 20180523 | |
UniProtAcc | Q86X10 | |
Context | PubMed: RALGAPB [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for RALGAPB from UCSC genome browser |
Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for RALGAPB |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for RALGAPB |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_351730 | 20 | 37121572:37121775:37125995:37126159:37128089:37128276 | 37125995:37126159 | ENSG00000170471.10 | ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3,ENST00000537204.1 |
exon_skip_351739 | 20 | 37126122:37126159:37128089:37128276:37137719:37137851 | 37128089:37128276 | ENSG00000170471.10 | ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3,ENST00000537204.1 |
exon_skip_351741 | 20 | 37128089:37128276:37137719:37137851:37144834:37145013 | 37137719:37137851 | ENSG00000170471.10 | ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3,ENST00000537204.1 |
exon_skip_351742 | 20 | 37137727:37137851:37144834:37145013:37146148:37146297 | 37144834:37145013 | ENSG00000170471.10 | ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3,ENST00000537204.1,ENST00000461423.1 |
exon_skip_351746 | 20 | 37146426:37146643:37150139:37150341:37153420:37153480 | 37150139:37150341 | ENSG00000170471.10 | ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3,ENST00000461423.1 |
exon_skip_351748 | 20 | 37161372:37161502:37163716:37163850:37168418:37168601 | 37163716:37163850 | ENSG00000170471.10 | ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000461423.1 |
exon_skip_351749 | 20 | 37161372:37161502:37163728:37163850:37168418:37168601 | 37163728:37163850 | ENSG00000170471.10 | ENST00000397042.3 |
exon_skip_351753 | 20 | 37169683:37169835:37174885:37175073:37177331:37177438 | 37174885:37175073 | ENSG00000170471.10 | ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3 |
exon_skip_351757 | 20 | 37174885:37175073:37177331:37177438:37179713:37179866 | 37177331:37177438 | ENSG00000170471.10 | ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3 |
exon_skip_351758 | 20 | 37179713:37179866:37182509:37182719:37186937:37187096 | 37182509:37182719 | ENSG00000170471.10 | ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3 |
exon_skip_351761 | 20 | 37186937:37187096:37191174:37191340:37193998:37194121 | 37191174:37191340 | ENSG00000170471.10 | ENST00000438490.1,ENST00000397038.1,ENST00000397042.3 |
exon_skip_351766 | 20 | 37191174:37191340:37193998:37194121:37195738:37195875 | 37193998:37194121 | ENSG00000170471.10 | ENST00000438490.1,ENST00000397038.1,ENST00000397042.3 |
exon_skip_351768 | 20 | 37191174:37191340:37194001:37194121:37195738:37195875 | 37194001:37194121 | ENSG00000170471.10 | ENST00000397040.1,ENST00000262879.6 |
exon_skip_351775 | 20 | 37195738:37195875:37198530:37198639:37199411:37199490 | 37198530:37198639 | ENSG00000170471.10 | ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3 |
exon_skip_351780 | 20 | 37198530:37198639:37199411:37199490:37202792:37202941 | 37199411:37199490 | ENSG00000170471.10 | ENST00000461147.1,ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3 |
exon_skip_351781 | 20 | 37199411:37199490:37202792:37202941:37203416:37203583 | 37202792:37202941 | ENSG00000170471.10 | ENST00000461147.1,ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RALGAPB |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_351730 | 20 | 37121572:37121775:37125995:37126159:37128089:37128276 | 37125995:37126159 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000537204.1,ENST00000397040.1 |
exon_skip_351739 | 20 | 37126122:37126159:37128089:37128276:37137719:37137851 | 37128089:37128276 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000537204.1,ENST00000397040.1,ENST00000438490.1 |
exon_skip_351741 | 20 | 37128089:37128276:37137719:37137851:37144834:37145013 | 37137719:37137851 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000537204.1,ENST00000397040.1,ENST00000438490.1 |
exon_skip_351742 | 20 | 37137727:37137851:37144834:37145013:37146148:37146297 | 37144834:37145013 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000537204.1,ENST00000397040.1,ENST00000438490.1,ENST00000461423.1 |
exon_skip_351746 | 20 | 37146426:37146643:37150139:37150341:37153420:37153480 | 37150139:37150341 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1,ENST00000461423.1 |
exon_skip_351748 | 20 | 37161372:37161502:37163716:37163850:37168418:37168601 | 37163716:37163850 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1,ENST00000461423.1 |
exon_skip_351749 | 20 | 37161372:37161502:37163728:37163850:37168418:37168601 | 37163728:37163850 | ENSG00000170471.10 | ENST00000397042.3 |
exon_skip_351753 | 20 | 37169683:37169835:37174885:37175073:37177331:37177438 | 37174885:37175073 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1 |
exon_skip_351757 | 20 | 37174885:37175073:37177331:37177438:37179713:37179866 | 37177331:37177438 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1 |
exon_skip_351758 | 20 | 37179713:37179866:37182509:37182719:37186937:37187096 | 37182509:37182719 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1 |
exon_skip_351761 | 20 | 37186937:37187096:37191174:37191340:37193998:37194121 | 37191174:37191340 | ENSG00000170471.10 | ENST00000397042.3,ENST00000397038.1,ENST00000438490.1 |
exon_skip_351766 | 20 | 37191174:37191340:37193998:37194121:37195738:37195875 | 37193998:37194121 | ENSG00000170471.10 | ENST00000397042.3,ENST00000397038.1,ENST00000438490.1 |
exon_skip_351768 | 20 | 37191174:37191340:37194001:37194121:37195738:37195875 | 37194001:37194121 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397040.1 |
exon_skip_351775 | 20 | 37195738:37195875:37198530:37198639:37199411:37199490 | 37198530:37198639 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1 |
exon_skip_351780 | 20 | 37198530:37198639:37199411:37199490:37202792:37202941 | 37199411:37199490 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1,ENST00000461147.1 |
exon_skip_351781 | 20 | 37199411:37199490:37202792:37202941:37203416:37203583 | 37202792:37202941 | ENSG00000170471.10 | ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1,ENST00000461147.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for RALGAPB |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000262879 | 37125995 | 37126159 | Frame-shift |
ENST00000397040 | 37125995 | 37126159 | Frame-shift |
ENST00000262879 | 37128089 | 37128276 | Frame-shift |
ENST00000397040 | 37128089 | 37128276 | Frame-shift |
ENST00000262879 | 37144834 | 37145013 | Frame-shift |
ENST00000397040 | 37144834 | 37145013 | Frame-shift |
ENST00000262879 | 37150139 | 37150341 | Frame-shift |
ENST00000397040 | 37150139 | 37150341 | Frame-shift |
ENST00000262879 | 37163716 | 37163850 | Frame-shift |
ENST00000397040 | 37163716 | 37163850 | Frame-shift |
ENST00000262879 | 37174885 | 37175073 | Frame-shift |
ENST00000397040 | 37174885 | 37175073 | Frame-shift |
ENST00000262879 | 37177331 | 37177438 | Frame-shift |
ENST00000397040 | 37177331 | 37177438 | Frame-shift |
ENST00000262879 | 37198530 | 37198639 | Frame-shift |
ENST00000397040 | 37198530 | 37198639 | Frame-shift |
ENST00000262879 | 37199411 | 37199490 | Frame-shift |
ENST00000397040 | 37199411 | 37199490 | Frame-shift |
ENST00000262879 | 37202792 | 37202941 | Frame-shift |
ENST00000397040 | 37202792 | 37202941 | Frame-shift |
ENST00000262879 | 37137719 | 37137851 | In-frame |
ENST00000397040 | 37137719 | 37137851 | In-frame |
ENST00000262879 | 37182509 | 37182719 | In-frame |
ENST00000397040 | 37182509 | 37182719 | In-frame |
ENST00000262879 | 37194001 | 37194121 | In-frame |
ENST00000397040 | 37194001 | 37194121 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000262879 | 37125995 | 37126159 | Frame-shift |
ENST00000397040 | 37125995 | 37126159 | Frame-shift |
ENST00000262879 | 37128089 | 37128276 | Frame-shift |
ENST00000397040 | 37128089 | 37128276 | Frame-shift |
ENST00000262879 | 37144834 | 37145013 | Frame-shift |
ENST00000397040 | 37144834 | 37145013 | Frame-shift |
ENST00000262879 | 37150139 | 37150341 | Frame-shift |
ENST00000397040 | 37150139 | 37150341 | Frame-shift |
ENST00000262879 | 37163716 | 37163850 | Frame-shift |
ENST00000397040 | 37163716 | 37163850 | Frame-shift |
ENST00000262879 | 37174885 | 37175073 | Frame-shift |
ENST00000397040 | 37174885 | 37175073 | Frame-shift |
ENST00000262879 | 37177331 | 37177438 | Frame-shift |
ENST00000397040 | 37177331 | 37177438 | Frame-shift |
ENST00000262879 | 37198530 | 37198639 | Frame-shift |
ENST00000397040 | 37198530 | 37198639 | Frame-shift |
ENST00000262879 | 37199411 | 37199490 | Frame-shift |
ENST00000397040 | 37199411 | 37199490 | Frame-shift |
ENST00000262879 | 37202792 | 37202941 | Frame-shift |
ENST00000397040 | 37202792 | 37202941 | Frame-shift |
ENST00000262879 | 37137719 | 37137851 | In-frame |
ENST00000397040 | 37137719 | 37137851 | In-frame |
ENST00000262879 | 37182509 | 37182719 | In-frame |
ENST00000397040 | 37182509 | 37182719 | In-frame |
ENST00000262879 | 37194001 | 37194121 | In-frame |
ENST00000397040 | 37194001 | 37194121 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RALGAPB |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000262879 | 8678 | 1494 | 37137719 | 37137851 | 1025 | 1156 | 247 | 290 |
ENST00000397040 | 8452 | 1494 | 37137719 | 37137851 | 799 | 930 | 247 | 290 |
ENST00000262879 | 8678 | 1494 | 37182509 | 37182719 | 3447 | 3656 | 1054 | 1124 |
ENST00000397040 | 8452 | 1494 | 37182509 | 37182719 | 3221 | 3430 | 1054 | 1124 |
ENST00000262879 | 8678 | 1494 | 37194001 | 37194121 | 3982 | 4101 | 1232 | 1272 |
ENST00000397040 | 8452 | 1494 | 37194001 | 37194121 | 3756 | 3875 | 1232 | 1272 |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000262879 | 8678 | 1494 | 37137719 | 37137851 | 1025 | 1156 | 247 | 290 |
ENST00000397040 | 8452 | 1494 | 37137719 | 37137851 | 799 | 930 | 247 | 290 |
ENST00000262879 | 8678 | 1494 | 37182509 | 37182719 | 3447 | 3656 | 1054 | 1124 |
ENST00000397040 | 8452 | 1494 | 37182509 | 37182719 | 3221 | 3430 | 1054 | 1124 |
ENST00000262879 | 8678 | 1494 | 37194001 | 37194121 | 3982 | 4101 | 1232 | 1272 |
ENST00000397040 | 8452 | 1494 | 37194001 | 37194121 | 3756 | 3875 | 1232 | 1272 |
Lost protein functional features of individual exon skipping events in TCGA. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in GTEx. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for RALGAPB |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
LIHC | TCGA-DD-A1EG-01 | exon_skip_351730 | 37125996 | 37126159 | 37126111 | 37126111 | Frame_Shift_Del | T | - | p.F169fs |
LIHC | TCGA-BC-A3KG-01 | exon_skip_351742 | 37144835 | 37145013 | 37144856 | 37144856 | Frame_Shift_Del | C | - | p.N298fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_351742 | 37144835 | 37145013 | 37144965 | 37144965 | Frame_Shift_Del | T | - | p.F336fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_351746 | 37150140 | 37150341 | 37150220 | 37150220 | Frame_Shift_Del | T | - | p.F500fs |
UCEC | TCGA-A5-A0G9-01 | exon_skip_351746 | 37150140 | 37150341 | 37150290 | 37150290 | Frame_Shift_Del | T | - | p.I523fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_351749 exon_skip_351748 | 37163717 | 37163850 | 37163786 | 37163786 | Frame_Shift_Del | C | - | p.S772fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_351749 exon_skip_351748 | 37163729 | 37163850 | 37163786 | 37163786 | Frame_Shift_Del | C | - | p.S772fs |
HNSC | TCGA-F7-A624-01 | exon_skip_351757 | 37177332 | 37177438 | 37177336 | 37177336 | Frame_Shift_Del | T | - | p.D969fs |
UCEC | TCGA-BG-A18B-01 | exon_skip_351757 | 37177332 | 37177438 | 37177336 | 37177336 | Frame_Shift_Del | T | - | p.D969fs |
LIHC | TCGA-BC-A3KG-01 | exon_skip_351757 | 37177332 | 37177438 | 37177407 | 37177407 | Frame_Shift_Del | T | - | p.L994fs |
STAD | TCGA-BR-4256-01 | exon_skip_351758 | 37182510 | 37182719 | 37182676 | 37182676 | Frame_Shift_Del | T | - | p.L1110fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_351761 | 37191175 | 37191340 | 37191226 | 37191226 | Frame_Shift_Del | T | - | p.F1195fs |
BLCA | TCGA-E7-A7XN-01 | exon_skip_351730 | 37125996 | 37126159 | 37126021 | 37126021 | Nonsense_Mutation | C | T | p.R139* |
LUAD | TCGA-MP-A4TC-01 | exon_skip_351730 | 37125996 | 37126159 | 37126103 | 37126103 | Nonsense_Mutation | T | G | p.L166* |
LUAD | TCGA-49-6744-01 | exon_skip_351757 | 37177332 | 37177438 | 37177415 | 37177415 | Nonsense_Mutation | A | T | p.R996* |
CHOL | TCGA-W5-AA2G-01 | exon_skip_351761 | 37191175 | 37191340 | 37191223 | 37191223 | Nonsense_Mutation | G | T | p.E1194* |
CHOL | TCGA-W5-AA2G-01 | exon_skip_351761 | 37191175 | 37191340 | 37191223 | 37191223 | Nonsense_Mutation | G | T | p.E1194X |
PRAD | TCGA-EJ-7125-01 | exon_skip_351766 | 37193999 | 37194121 | 37194025 | 37194025 | Nonsense_Mutation | G | T | p.G1241* |
PRAD | TCGA-EJ-7125-01 | exon_skip_351768 | 37194002 | 37194121 | 37194025 | 37194025 | Nonsense_Mutation | G | T | p.G1241* |
HNSC | TCGA-CQ-A4CA-01 | exon_skip_351780 | 37199412 | 37199490 | 37199427 | 37199427 | Nonsense_Mutation | C | G | p.S1360* |
KICH | TCGA-KM-8438-01 | exon_skip_351730 | 37125996 | 37126159 | 37126161 | 37126161 | Splice_Site | T | C | p.G185_splice |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
HEC108_ENDOMETRIUM | 37144835 | 37145013 | 37144965 | 37144965 | Frame_Shift_Del | T | - | p.F336fs |
FTC238_THYROID | 37177332 | 37177438 | 37177336 | 37177336 | Frame_Shift_Del | T | - | p.D969fs |
HEC151_ENDOMETRIUM | 37177332 | 37177438 | 37177336 | 37177336 | Frame_Shift_Del | T | - | p.D969fs |
SNU1_STOMACH | 37177332 | 37177438 | 37177336 | 37177336 | Frame_Shift_Del | T | - | p.D969fs |
PACADD188_PANCREAS | 37198531 | 37198639 | 37198593 | 37198593 | Frame_Shift_Del | T | - | p.P1339fs |
CW2_LARGE_INTESTINE | 37182510 | 37182719 | 37182695 | 37182696 | Frame_Shift_Ins | - | T | p.F1117fs |
IGROV1_OVARY | 37193999 | 37194121 | 37194034 | 37194035 | Frame_Shift_Ins | - | T | p.I1244fs |
IGROV1_OVARY | 37194002 | 37194121 | 37194034 | 37194035 | Frame_Shift_Ins | - | T | p.I1244fs |
BICR18_UPPER_AERODIGESTIVE_TRACT | 37193999 | 37194121 | 37194116 | 37194117 | Frame_Shift_Ins | - | A | p.SL1271fs |
BICR18_UPPER_AERODIGESTIVE_TRACT | 37194002 | 37194121 | 37194116 | 37194117 | Frame_Shift_Ins | - | A | p.SL1271fs |
CW2_LARGE_INTESTINE | 37202793 | 37202941 | 37202882 | 37202883 | Frame_Shift_Ins | - | A | p.GK1411fs |
HCC2998_LARGE_INTESTINE | 37125996 | 37126159 | 37126129 | 37126129 | Missense_Mutation | G | A | p.D175N |
HCC1569_BREAST | 37125996 | 37126159 | 37126157 | 37126157 | Missense_Mutation | A | G | p.Q184R |
SW684_SOFT_TISSUE | 37128090 | 37128276 | 37128273 | 37128273 | Missense_Mutation | C | T | p.S246F |
OVCAR5_OVARY | 37137720 | 37137851 | 37137803 | 37137803 | Missense_Mutation | A | G | p.D275G |
SNU1040_LARGE_INTESTINE | 37144835 | 37145013 | 37144840 | 37144840 | Missense_Mutation | C | A | p.P293H |
C99_LARGE_INTESTINE | 37144835 | 37145013 | 37144863 | 37144863 | Missense_Mutation | A | G | p.I301V |
EN_ENDOMETRIUM | 37144835 | 37145013 | 37144894 | 37144894 | Missense_Mutation | A | C | p.Q311P |
MEWO_SKIN | 37144835 | 37145013 | 37144938 | 37144938 | Missense_Mutation | C | T | p.P326S |
LS411N_LARGE_INTESTINE | 37150140 | 37150341 | 37150241 | 37150241 | Missense_Mutation | G | T | p.D507Y |
PK45H_PANCREAS | 37150140 | 37150341 | 37150280 | 37150280 | Missense_Mutation | C | G | p.L520V |
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37163729 | 37163850 | 37163807 | 37163807 | Missense_Mutation | G | C | p.S779T |
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37163717 | 37163850 | 37163807 | 37163807 | Missense_Mutation | G | C | p.S779T |
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37163729 | 37163850 | 37163809 | 37163809 | Missense_Mutation | A | G | p.I780V |
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37163717 | 37163850 | 37163809 | 37163809 | Missense_Mutation | A | G | p.I780V |
EN_ENDOMETRIUM | 37174886 | 37175073 | 37174899 | 37174899 | Missense_Mutation | C | A | p.L910I |
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37174886 | 37175073 | 37174905 | 37174905 | Missense_Mutation | G | A | p.A912T |
MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37174886 | 37175073 | 37174911 | 37174911 | Missense_Mutation | C | T | p.P914S |
MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37174886 | 37175073 | 37174911 | 37174911 | Missense_Mutation | C | T | p.P914S |
HS742T_FIBROBLAST | 37174886 | 37175073 | 37175047 | 37175047 | Missense_Mutation | T | C | p.L959P |
SW1573_LUNG | 37177332 | 37177438 | 37177339 | 37177339 | Missense_Mutation | T | G | p.F970L |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37191175 | 37191340 | 37191203 | 37191203 | Missense_Mutation | C | A | p.T1187N |
BICR18_UPPER_AERODIGESTIVE_TRACT | 37191175 | 37191340 | 37191203 | 37191203 | Missense_Mutation | C | A | p.T1187N |
SF767_CENTRAL_NERVOUS_SYSTEM | 37191175 | 37191340 | 37191223 | 37191223 | Missense_Mutation | G | A | p.E1194K |
T98G_CENTRAL_NERVOUS_SYSTEM | 37191175 | 37191340 | 37191329 | 37191329 | Missense_Mutation | G | A | p.G1229E |
U2OS_BONE | 37193999 | 37194121 | 37194070 | 37194070 | Missense_Mutation | G | T | p.D1256Y |
U2OS_BONE | 37194002 | 37194121 | 37194070 | 37194070 | Missense_Mutation | G | T | p.D1256Y |
SKMEL2_SKIN | 37198531 | 37198639 | 37198583 | 37198583 | Missense_Mutation | C | T | p.P1336L |
HCC202_BREAST | 37198531 | 37198639 | 37198594 | 37198594 | Missense_Mutation | G | C | p.E1340Q |
SNU1040_LARGE_INTESTINE | 37198531 | 37198639 | 37198625 | 37198625 | Missense_Mutation | G | A | p.R1350H |
BICR18_UPPER_AERODIGESTIVE_TRACT | 37199412 | 37199490 | 37199431 | 37199431 | Missense_Mutation | G | T | p.E1361D |
JHUEM2_ENDOMETRIUM | 37137720 | 37137851 | 37137828 | 37137828 | Nonsense_Mutation | G | A | p.W283* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RALGAPB |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RALGAPB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RALGAPB |
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RelatedDrugs for RALGAPB |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RALGAPB |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |