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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for RAMP2 |
 Gene summary |
| Gene information | Gene symbol | RAMP2 | Gene ID | 10266 |
| Gene name | receptor activity modifying protein 2 | |
| Synonyms | - | |
| Cytomap | 17q21.2 | |
| Type of gene | protein-coding | |
| Description | receptor activity-modifying protein 2CRLR activity-modifying protein 2calcitonin receptor-like receptor activity modifying protein 2receptor (G protein-coupled) activity modifying protein 2receptor (calcitonin) activity modifying protein 2 | |
| Modification date | 20180523 | |
| UniProtAcc | O60895 | |
| Context | PubMed: RAMP2 [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 |
| RAMP2 | GO:0001525 | angiogenesis | 20596610 |
| RAMP2 | GO:0006816 | calcium ion transport | 10882736 |
| RAMP2 | GO:0010628 | positive regulation of gene expression | 18097473 |
| RAMP2 | GO:0015031 | protein transport | 9620797|10882736 |
| RAMP2 | GO:0031623 | receptor internalization | 10882736|15613468|20074556 |
| RAMP2 | GO:0034333 | adherens junction assembly | 18097473 |
| RAMP2 | GO:0043116 | negative regulation of vascular permeability | 18097473 |
| RAMP2 | GO:0070830 | bicellular tight junction assembly | 18097473 |
| RAMP2 | GO:0072659 | protein localization to plasma membrane | 10882736 |
| RAMP2 | GO:2000352 | negative regulation of endothelial cell apoptotic process | 18097473 |
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Exon skipping events across known transcript of Ensembl for RAMP2 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 RAMP2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for RAMP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152781 | 17 | 40913851:40913917:40914357:40914481:40914614:40914716 | 40914357:40914481 | ENSG00000131477.6 | ENST00000587142.1 |
| exon_skip_152785 | 17 | 40913851:40913917:40914372:40914481:40914614:40914716 | 40914372:40914481 | ENSG00000131477.6 | ENST00000589683.1,ENST00000588928.1,ENST00000253796.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RAMP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152781 | 17 | 40913851:40913917:40914357:40914481:40914614:40914716 | 40914357:40914481 | ENSG00000131477.6 | ENST00000587142.1 |
| exon_skip_152785 | 17 | 40913851:40913917:40914372:40914481:40914614:40914716 | 40914372:40914481 | ENSG00000131477.6 | ENST00000589683.1,ENST00000588928.1,ENST00000253796.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for RAMP2 |
| 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 |
| ENST00000253796 | 40914372 | 40914481 | Frame-shift |
| 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 |
| ENST00000253796 | 40914372 | 40914481 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RAMP2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| 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 |
| 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 RAMP2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| PRAD | TCGA-KK-A59V-01 | exon_skip_152781 exon_skip_152785 | 40914358 | 40914481 | 40914372 | 40914372 | Frame_Shift_Del | G | - | p.G61fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_152781 exon_skip_152785 | 40914358 | 40914481 | 40914372 | 40914372 | Frame_Shift_Del | G | - | p.G61fs |
| STAD | TCGA-CG-5721-01 | exon_skip_152781 exon_skip_152785 | 40914373 | 40914481 | 40914371 | 40914372 | Splice_Site | - | G | . |
| PRAD | TCGA-KK-A59V-01 | exon_skip_152781 exon_skip_152785 | 40914373 | 40914481 | 40914372 | 40914372 | Splice_Site | G | - | . |
| STAD | TCGA-CG-5721-01 | exon_skip_152781 exon_skip_152785 | 40914373 | 40914481 | 40914372 | 40914373 | Splice_Site | - | G | p.G55_splice |
| UCEC | TCGA-AX-A05S-01 | exon_skip_152781 exon_skip_152785 | 40914373 | 40914481 | 40914372 | 40914372 | Splice_Site | G | - | p.G55_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 |
| LP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40914358 | 40914481 | 40914400 | 40914400 | Missense_Mutation | C | G | p.A64G |
| LP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40914373 | 40914481 | 40914400 | 40914400 | Missense_Mutation | C | G | p.A64G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAMP2 |
| 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 RAMP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAMP2 |
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RelatedDrugs for RAMP2 |
| 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 |
| O60895 | DB01278 | Pramlintide | Receptor activity-modifying protein 2 | small molecule | approved|investigational |
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RelatedDiseases for RAMP2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RAMP2 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| RAMP2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| RAMP2 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| RAMP2 | C0043094 | Weight Gain | 1 | CTD_human |
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