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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 RAP1B |
Gene summary |
Gene information | Gene symbol | RAP1B | Gene ID | 5908 |
Gene name | RAP1B, member of RAS oncogene family | |
Synonyms | K-REV|RAL1B | |
Cytomap | 12q15 | |
Type of gene | protein-coding | |
Description | ras-related protein Rap-1bGTP-binding protein smg p21BRAS-related protein RAP1BRas family small GTP binding protein RAP1Bsmall GTP binding protein | |
Modification date | 20180527 | |
UniProtAcc | P61224 | |
Context | PubMed: RAP1B [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 |
RAP1B | GO:0071320 | cellular response to cAMP | 21840392 |
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Exon skipping events across known transcript of Ensembl for RAP1B 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 RAP1B |
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 RAP1B |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_85062 | 12 | 69004687:69004823:69018287:69018653:69042478:69042537 | 69018287:69018653 | ENSG00000127314.13 | ENST00000489473.2 |
exon_skip_85066 | 12 | 69004804:69004823:69018450:69018653:69042478:69042537 | 69018450:69018653 | ENSG00000127314.13 | ENST00000537460.1 |
exon_skip_85069 | 12 | 69004804:69004823:69018454:69018653:69042478:69042537 | 69018454:69018653 | ENSG00000127314.13 | ENST00000534899.1 |
exon_skip_85072 | 12 | 69004804:69004823:69034813:69034933:69042478:69042537 | 69034813:69034933 | ENSG00000127314.13 | ENST00000541167.1 |
exon_skip_85074 | 12 | 69004804:69004823:69034817:69034933:69042478:69042537 | 69034817:69034933 | ENSG00000127314.13 | ENST00000545270.1 |
exon_skip_85077 | 12 | 69004712:69004823:69042449:69042561:69044179:69044220 | 69042449:69042561 | ENSG00000127314.13 | ENST00000485252.2 |
exon_skip_85079 | 12 | 69004804:69004823:69042478:69042561:69044179:69044220 | 69042478:69042561 | ENSG00000127314.13 | ENST00000540209.1,ENST00000542145.1,ENST00000541216.1,ENST00000543697.1,ENST00000460800.1 |
exon_skip_85080 | 12 | 69004804:69004823:69042478:69042561:69047891:69047962 | 69042478:69042561 | ENSG00000127314.13 | ENST00000450214.2 |
exon_skip_85081 | 12 | 69004804:69004823:69042485:69042561:69044179:69044220 | 69042485:69042561 | ENSG00000127314.13 | ENST00000341355.5 |
exon_skip_85085 | 12 | 69004740:69004832:69015225:69015271:69018450:69018533 | 69015225:69015271 | ENSG00000127314.13 | ENST00000538877.1 |
exon_skip_85088 | 12 | 69004740:69004832:69018450:69018653:69042478:69042537 | 69018450:69018653 | ENSG00000127314.13 | ENST00000425247.2 |
exon_skip_85091 | 12 | 69004740:69004832:69018454:69018653:69042478:69042537 | 69018454:69018653 | ENSG00000127314.13 | ENST00000422358.2 |
exon_skip_85094 | 12 | 69004740:69004832:69034817:69034933:69042478:69042537 | 69034817:69034933 | ENSG00000127314.13 | ENST00000538283.1 |
exon_skip_85096 | 12 | 69004740:69004832:69042478:69042561:69044179:69044220 | 69042478:69042561 | ENSG00000127314.13 | ENST00000393436.5 |
exon_skip_85097 | 12 | 69004740:69004832:69042478:69042561:69047891:69047962 | 69042478:69042561 | ENSG00000127314.13 | ENST00000539091.1 |
exon_skip_85098 | 12 | 69004740:69004832:69042485:69042561:69044179:69044220 | 69042485:69042561 | ENSG00000127314.13 | ENST00000453560.2 |
exon_skip_85102 | 12 | 69018450:69018653:69041772:69041875:69042478:69042537 | 69041772:69041875 | ENSG00000127314.13 | ENST00000541386.1 |
exon_skip_85103 | 12 | 69018454:69018653:69042478:69042561:69044179:69044220 | 69042478:69042561 | ENSG00000127314.13 | ENST00000537460.1,ENST00000425247.2,ENST00000538877.1,ENST00000422358.2,ENST00000534899.1,ENST00000542018.1 |
exon_skip_85104 | 12 | 69042485:69042561:69044179:69044248:69047891:69047962 | 69044179:69044248 | ENSG00000127314.13 | ENST00000540209.1 |
exon_skip_85106 | 12 | 69044179:69044248:69045774:69045831:69047891:69047962 | 69045774:69045831 | ENSG00000127314.13 | ENST00000538283.1,ENST00000250559.9,ENST00000540781.1,ENST00000453560.2,ENST00000545720.2,ENST00000537460.1,ENST00000425247.2,ENST00000538980.1,ENST00000541216.1,ENST00000545270.1,ENST00000544639.1,ENST00000393436.5,ENST00000534899.1,ENST00000541167.1,ENS |
exon_skip_85108 | 12 | 69045798:69045831:69047891:69048032:69050085:69050128 | 69047891:69048032 | ENSG00000127314.13 | ENST00000250559.9,ENST00000540781.1,ENST00000453560.2,ENST00000463493.1,ENST00000537460.1,ENST00000425247.2,ENST00000538980.1,ENST00000541216.1,ENST00000545270.1,ENST00000544639.1,ENST00000393436.5,ENST00000341355.5 |
exon_skip_85109 | 12 | 69047904:69048032:69050085:69050229:69050880:69050919 | 69050085:69050229 | ENSG00000127314.13 | ENST00000250559.9,ENST00000540209.1,ENST00000539091.1,ENST00000543393.1,ENST00000463493.1,ENST00000537460.1,ENST00000378985.3,ENST00000538980.1,ENST00000535492.1,ENST00000450214.2,ENST00000393436.5,ENST00000341355.5 |
exon_skip_85110 | 12 | 69050085:69050229:69050880:69050997:69053059:69053063 | 69050880:69050997 | ENSG00000127314.13 | ENST00000250559.9,ENST00000540209.1,ENST00000539091.1,ENST00000543393.1,ENST00000463493.1,ENST00000542145.1,ENST00000537460.1,ENST00000450214.2,ENST00000393436.5 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RAP1B |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_85062 | 12 | 69004687:69004823:69018287:69018653:69042478:69042537 | 69018287:69018653 | ENSG00000127314.13 | ENST00000489473.2 |
exon_skip_85066 | 12 | 69004804:69004823:69018450:69018653:69042478:69042537 | 69018450:69018653 | ENSG00000127314.13 | ENST00000537460.1 |
exon_skip_85069 | 12 | 69004804:69004823:69018454:69018653:69042478:69042537 | 69018454:69018653 | ENSG00000127314.13 | ENST00000534899.1 |
exon_skip_85072 | 12 | 69004804:69004823:69034813:69034933:69042478:69042537 | 69034813:69034933 | ENSG00000127314.13 | ENST00000541167.1 |
exon_skip_85074 | 12 | 69004804:69004823:69034817:69034933:69042478:69042537 | 69034817:69034933 | ENSG00000127314.13 | ENST00000545270.1 |
exon_skip_85077 | 12 | 69004712:69004823:69042449:69042561:69044179:69044220 | 69042449:69042561 | ENSG00000127314.13 | ENST00000485252.2 |
exon_skip_85079 | 12 | 69004804:69004823:69042478:69042561:69044179:69044220 | 69042478:69042561 | ENSG00000127314.13 | ENST00000460800.1,ENST00000540209.1,ENST00000542145.1,ENST00000543697.1,ENST00000541216.1 |
exon_skip_85080 | 12 | 69004804:69004823:69042478:69042561:69047891:69047962 | 69042478:69042561 | ENSG00000127314.13 | ENST00000450214.2 |
exon_skip_85081 | 12 | 69004804:69004823:69042485:69042561:69044179:69044220 | 69042485:69042561 | ENSG00000127314.13 | ENST00000341355.5 |
exon_skip_85085 | 12 | 69004740:69004832:69015225:69015271:69018450:69018533 | 69015225:69015271 | ENSG00000127314.13 | ENST00000538877.1 |
exon_skip_85088 | 12 | 69004740:69004832:69018450:69018653:69042478:69042537 | 69018450:69018653 | ENSG00000127314.13 | ENST00000425247.2 |
exon_skip_85091 | 12 | 69004740:69004832:69018454:69018653:69042478:69042537 | 69018454:69018653 | ENSG00000127314.13 | ENST00000422358.2 |
exon_skip_85094 | 12 | 69004740:69004832:69034817:69034933:69042478:69042537 | 69034817:69034933 | ENSG00000127314.13 | ENST00000538283.1 |
exon_skip_85096 | 12 | 69004740:69004832:69042478:69042561:69044179:69044220 | 69042478:69042561 | ENSG00000127314.13 | ENST00000393436.5 |
exon_skip_85097 | 12 | 69004740:69004832:69042478:69042561:69047891:69047962 | 69042478:69042561 | ENSG00000127314.13 | ENST00000539091.1 |
exon_skip_85098 | 12 | 69004740:69004832:69042485:69042561:69044179:69044220 | 69042485:69042561 | ENSG00000127314.13 | ENST00000453560.2 |
exon_skip_85102 | 12 | 69018450:69018653:69041772:69041875:69042478:69042537 | 69041772:69041875 | ENSG00000127314.13 | ENST00000541386.1 |
exon_skip_85103 | 12 | 69018454:69018653:69042478:69042561:69044179:69044220 | 69042478:69042561 | ENSG00000127314.13 | ENST00000425247.2,ENST00000422358.2,ENST00000537460.1,ENST00000542018.1,ENST00000534899.1,ENST00000538877.1 |
exon_skip_85104 | 12 | 69042485:69042561:69044179:69044248:69047891:69047962 | 69044179:69044248 | ENSG00000127314.13 | ENST00000540209.1 |
exon_skip_85106 | 12 | 69044179:69044248:69045774:69045831:69047891:69047962 | 69045774:69045831 | ENSG00000127314.13 | ENST00000250559.9,ENST00000393436.5,ENST00000425247.2,ENST00000541167.1,ENST00000538283.1,ENST00000341355.5,ENST00000537460.1,ENST00000545270.1,ENST00000538980.1,ENST00000542018.1,ENST00000534899.1,ENST00000453560.2,ENST00000540781.1,ENST00000543697.1,ENS |
exon_skip_85108 | 12 | 69045798:69045831:69047891:69048032:69050085:69050128 | 69047891:69048032 | ENSG00000127314.13 | ENST00000250559.9,ENST00000393436.5,ENST00000425247.2,ENST00000341355.5,ENST00000537460.1,ENST00000463493.1,ENST00000545270.1,ENST00000538980.1,ENST00000453560.2,ENST00000540781.1,ENST00000541216.1,ENST00000544639.1 |
exon_skip_85109 | 12 | 69047904:69048032:69050085:69050229:69050880:69050919 | 69050085:69050229 | ENSG00000127314.13 | ENST00000250559.9,ENST00000393436.5,ENST00000341355.5,ENST00000537460.1,ENST00000463493.1,ENST00000450214.2,ENST00000538980.1,ENST00000543393.1,ENST00000378985.3,ENST00000540209.1,ENST00000535492.1,ENST00000539091.1 |
exon_skip_85110 | 12 | 69050085:69050229:69050880:69050997:69053059:69053063 | 69050880:69050997 | ENSG00000127314.13 | ENST00000250559.9,ENST00000393436.5,ENST00000537460.1,ENST00000463493.1,ENST00000450214.2,ENST00000543393.1,ENST00000540209.1,ENST00000539091.1,ENST00000542145.1 |
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 RAP1B |
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 |
ENST00000250559 | 69050880 | 69050997 | 3UTR-3CDS |
ENST00000393436 | 69050880 | 69050997 | 3UTR-3CDS |
ENST00000537460 | 69050880 | 69050997 | 3UTR-3CDS |
ENST00000393436 | 69042478 | 69042561 | 5CDS-5UTR |
ENST00000537460 | 69042478 | 69042561 | 5CDS-5UTR |
ENST00000341355 | 69042485 | 69042561 | 5CDS-5UTR |
ENST00000537460 | 69018450 | 69018653 | 5UTR-5UTR |
ENST00000250559 | 69045774 | 69045831 | In-frame |
ENST00000341355 | 69045774 | 69045831 | In-frame |
ENST00000393436 | 69045774 | 69045831 | In-frame |
ENST00000537460 | 69045774 | 69045831 | In-frame |
ENST00000250559 | 69047891 | 69048032 | In-frame |
ENST00000341355 | 69047891 | 69048032 | In-frame |
ENST00000393436 | 69047891 | 69048032 | In-frame |
ENST00000537460 | 69047891 | 69048032 | In-frame |
ENST00000250559 | 69050085 | 69050229 | In-frame |
ENST00000341355 | 69050085 | 69050229 | In-frame |
ENST00000393436 | 69050085 | 69050229 | In-frame |
ENST00000537460 | 69050085 | 69050229 | 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 |
ENST00000250559 | 69050880 | 69050997 | 3UTR-3CDS |
ENST00000393436 | 69050880 | 69050997 | 3UTR-3CDS |
ENST00000537460 | 69050880 | 69050997 | 3UTR-3CDS |
ENST00000393436 | 69042478 | 69042561 | 5CDS-5UTR |
ENST00000537460 | 69042478 | 69042561 | 5CDS-5UTR |
ENST00000341355 | 69042485 | 69042561 | 5CDS-5UTR |
ENST00000537460 | 69018450 | 69018653 | 5UTR-5UTR |
ENST00000250559 | 69045774 | 69045831 | In-frame |
ENST00000341355 | 69045774 | 69045831 | In-frame |
ENST00000393436 | 69045774 | 69045831 | In-frame |
ENST00000537460 | 69045774 | 69045831 | In-frame |
ENST00000250559 | 69047891 | 69048032 | In-frame |
ENST00000341355 | 69047891 | 69048032 | In-frame |
ENST00000393436 | 69047891 | 69048032 | In-frame |
ENST00000537460 | 69047891 | 69048032 | In-frame |
ENST00000250559 | 69050085 | 69050229 | In-frame |
ENST00000341355 | 69050085 | 69050229 | In-frame |
ENST00000393436 | 69050085 | 69050229 | In-frame |
ENST00000537460 | 69050085 | 69050229 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RAP1B |
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 |
ENST00000250559 | 2146 | 184 | 69045774 | 69045831 | 358 | 414 | 42 | 61 |
ENST00000341355 | 731 | 184 | 69045774 | 69045831 | 282 | 338 | 42 | 61 |
ENST00000393436 | 2066 | 184 | 69045774 | 69045831 | 348 | 404 | 42 | 61 |
ENST00000537460 | 1089 | 184 | 69045774 | 69045831 | 492 | 548 | 42 | 61 |
ENST00000250559 | 2146 | 184 | 69047891 | 69048032 | 415 | 555 | 61 | 108 |
ENST00000341355 | 731 | 184 | 69047891 | 69048032 | 339 | 479 | 61 | 108 |
ENST00000393436 | 2066 | 184 | 69047891 | 69048032 | 405 | 545 | 61 | 108 |
ENST00000537460 | 1089 | 184 | 69047891 | 69048032 | 549 | 689 | 61 | 108 |
ENST00000250559 | 2146 | 184 | 69050085 | 69050229 | 556 | 699 | 108 | 156 |
ENST00000341355 | 731 | 184 | 69050085 | 69050229 | 480 | 623 | 108 | 156 |
ENST00000393436 | 2066 | 184 | 69050085 | 69050229 | 546 | 689 | 108 | 156 |
ENST00000537460 | 1089 | 184 | 69050085 | 69050229 | 690 | 833 | 108 | 156 |
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 |
ENST00000250559 | 2146 | 184 | 69045774 | 69045831 | 358 | 414 | 42 | 61 |
ENST00000341355 | 731 | 184 | 69045774 | 69045831 | 282 | 338 | 42 | 61 |
ENST00000393436 | 2066 | 184 | 69045774 | 69045831 | 348 | 404 | 42 | 61 |
ENST00000537460 | 1089 | 184 | 69045774 | 69045831 | 492 | 548 | 42 | 61 |
ENST00000250559 | 2146 | 184 | 69047891 | 69048032 | 415 | 555 | 61 | 108 |
ENST00000341355 | 731 | 184 | 69047891 | 69048032 | 339 | 479 | 61 | 108 |
ENST00000393436 | 2066 | 184 | 69047891 | 69048032 | 405 | 545 | 61 | 108 |
ENST00000537460 | 1089 | 184 | 69047891 | 69048032 | 549 | 689 | 61 | 108 |
ENST00000250559 | 2146 | 184 | 69050085 | 69050229 | 556 | 699 | 108 | 156 |
ENST00000341355 | 731 | 184 | 69050085 | 69050229 | 480 | 623 | 108 | 156 |
ENST00000393436 | 2066 | 184 | 69050085 | 69050229 | 546 | 689 | 108 | 156 |
ENST00000537460 | 1089 | 184 | 69050085 | 69050229 | 690 | 833 | 108 | 156 |
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 RAP1B |
- 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 |
HNSC | TCGA-CV-6441-01 | exon_skip_85103 exon_skip_85079 exon_skip_85096 exon_skip_85097 exon_skip_85098 exon_skip_85081 exon_skip_85080 exon_skip_85077 | 69042450 | 69042561 | 69042549 | 69042549 | Frame_Shift_Del | A | - | p.G15fs |
HNSC | TCGA-CV-6441-01 | exon_skip_85103 exon_skip_85079 exon_skip_85096 exon_skip_85097 exon_skip_85098 exon_skip_85081 exon_skip_85080 exon_skip_85077 | 69042479 | 69042561 | 69042549 | 69042549 | Frame_Shift_Del | A | - | p.G15fs |
HNSC | TCGA-CV-6441-01 | exon_skip_85103 exon_skip_85079 exon_skip_85096 exon_skip_85097 exon_skip_85098 exon_skip_85081 exon_skip_85080 exon_skip_85077 | 69042486 | 69042561 | 69042549 | 69042549 | Frame_Shift_Del | A | - | p.G15fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_85104 | 69044180 | 69044248 | 69044211 | 69044211 | Frame_Shift_Del | A | - | p.E30fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_85108 | 69047892 | 69048032 | 69047925 | 69047925 | Frame_Shift_Del | A | - | p.K73fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_85109 | 69050086 | 69050229 | 69050119 | 69050119 | Frame_Shift_Del | T | - | p.L120fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_85109 | 69050086 | 69050229 | 69050205 | 69050205 | Frame_Shift_Del | A | - | p.A148fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_85109 | 69050086 | 69050229 | 69050211 | 69050211 | Frame_Shift_Del | A | - | p.S150fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_85109 | 69050086 | 69050229 | 69050211 | 69050211 | Frame_Shift_Del | A | - | p.S150fs |
PAAD | TCGA-IB-7651-01 | exon_skip_85104 | 69044180 | 69044248 | 69044201 | 69044202 | Frame_Shift_Ins | - | T | p.F27fs |
PAAD | TCGA-IB-7651-01 | exon_skip_85104 | 69044180 | 69044248 | 69044201 | 69044202 | Frame_Shift_Ins | - | T | p.I27fs |
UCEC | TCGA-AP-A051-01 | exon_skip_85104 | 69044180 | 69044248 | 69044198 | 69044198 | Nonsense_Mutation | G | T | p.G26* |
PAAD | TCGA-YB-A89D-01 | exon_skip_85109 | 69050086 | 69050229 | 69050210 | 69050210 | Nonsense_Mutation | C | A | p.S150* |
- 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 |
CCK81_LARGE_INTESTINE | 69047892 | 69048032 | 69047925 | 69047925 | Frame_Shift_Del | A | - | p.K73fs |
CCK81_LARGE_INTESTINE | 69042479 | 69042561 | 69042508 | 69042508 | Missense_Mutation | C | T | p.R2C |
CCK81_LARGE_INTESTINE | 69042486 | 69042561 | 69042508 | 69042508 | Missense_Mutation | C | T | p.R2C |
CCK81_LARGE_INTESTINE | 69042450 | 69042561 | 69042508 | 69042508 | Missense_Mutation | C | T | p.R2C |
HO1N1_UPPER_AERODIGESTIVE_TRACT | 69042479 | 69042561 | 69042509 | 69042509 | Missense_Mutation | G | A | p.R2H |
HO1N1_UPPER_AERODIGESTIVE_TRACT | 69042486 | 69042561 | 69042509 | 69042509 | Missense_Mutation | G | A | p.R2H |
HO1N1_UPPER_AERODIGESTIVE_TRACT | 69042450 | 69042561 | 69042509 | 69042509 | Missense_Mutation | G | A | p.R2H |
NK92MI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69042479 | 69042561 | 69042514 | 69042514 | Missense_Mutation | T | A | p.Y4N |
NK92MI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69042486 | 69042561 | 69042514 | 69042514 | Missense_Mutation | T | A | p.Y4N |
NK92MI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69042450 | 69042561 | 69042514 | 69042514 | Missense_Mutation | T | A | p.Y4N |
R262_CENTRAL_NERVOUS_SYSTEM | 69042479 | 69042561 | 69042538 | 69042538 | Missense_Mutation | G | A | p.G12R |
R262_CENTRAL_NERVOUS_SYSTEM | 69042486 | 69042561 | 69042538 | 69042538 | Missense_Mutation | G | A | p.G12R |
R262_CENTRAL_NERVOUS_SYSTEM | 69042450 | 69042561 | 69042538 | 69042538 | Missense_Mutation | G | A | p.G12R |
SW620_LARGE_INTESTINE | 69042479 | 69042561 | 69042542 | 69042542 | Missense_Mutation | G | A | p.G13D |
SW620_LARGE_INTESTINE | 69042486 | 69042561 | 69042542 | 69042542 | Missense_Mutation | G | A | p.G13D |
SW620_LARGE_INTESTINE | 69042450 | 69042561 | 69042542 | 69042542 | Missense_Mutation | G | A | p.G13D |
PEO1_OVARY | 69044180 | 69044248 | 69044219 | 69044219 | Missense_Mutation | G | A | p.D33N |
FU97_STOMACH | 69047892 | 69048032 | 69047899 | 69047899 | Missense_Mutation | T | A | p.F64Y |
CAL27_UPPER_AERODIGESTIVE_TRACT | 69047892 | 69048032 | 69047909 | 69047909 | Missense_Mutation | G | A | p.M67I |
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69047892 | 69048032 | 69047982 | 69047982 | Missense_Mutation | G | A | p.D92N |
HEC108_ENDOMETRIUM | 69050086 | 69050229 | 69050111 | 69050111 | Missense_Mutation | A | G | p.K117R |
CL14_LARGE_INTESTINE | 69050881 | 69050997 | 69050900 | 69050900 | Missense_Mutation | G | C | p.R163P |
TOV21G_OVARY | 69050881 | 69050997 | 69050957 | 69050957 | Missense_Mutation | A | C | p.Q182P |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69045775 | 69045831 | 69045830 | 69045830 | Splice_Site | C | T | p.T61M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAP1B |
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 |
exon_skip_85094 | 12 | 69004740:69004832:69034817:69034933:69042478:69042537 | 69034817:69034933 | ENST00000538283.1 | UVM | rs79406475 | chr12:69034890 | G/A | 1.88e-05 |
exon_skip_85072 | 12 | 69004804:69004823:69034813:69034933:69042478:69042537 | 69034813:69034933 | ENST00000541167.1 | UVM | rs79406475 | chr12:69034890 | G/A | 1.88e-05 |
exon_skip_85074 | 12 | 69004804:69004823:69034817:69034933:69042478:69042537 | 69034817:69034933 | ENST00000545270.1 | UVM | rs79406475 | chr12:69034890 | G/A | 1.88e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAP1B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAP1B |
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RelatedDrugs for RAP1B |
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 RAP1B |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |