|
||||||
|
 | |
| |
| |
| |
| 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 CNRIP1 |
 Gene summary |
| Gene information | Gene symbol | CNRIP1 | Gene ID | 25927 |
| Gene name | cannabinoid receptor interacting protein 1 | |
| Synonyms | C2orf32|CRIP1 | |
| Cytomap | 2p14 | |
| Type of gene | protein-coding | |
| Description | CB1 cannabinoid receptor-interacting protein 1CRIP-1cannabinoid receptor CB1-interacting protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96F85 | |
| Context | PubMed: CNRIP1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for CNRIP1 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. |
 |
Top |
Gene isoform structures and expression levels for CNRIP1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for CNRIP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_339778 | 2 | 68520197:68521158:68544288:68544439:68546353:68546454 | 68544288:68544439 | ENSG00000119865.4 | ENST00000263655.3,ENST00000481714.1 |
| exon_skip_339781 | 2 | 68544288:68544439:68546353:68546454:68546903:68547019 | 68546353:68546454 | ENSG00000119865.4 | ENST00000481714.1 |
| exon_skip_339783 | 2 | 68544288:68544439:68546353:68546598:68546903:68547019 | 68546353:68546598 | ENSG00000119865.4 | ENST00000409862.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for CNRIP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_339778 | 2 | 68520197:68521158:68544288:68544439:68546353:68546454 | 68544288:68544439 | ENSG00000119865.4 | ENST00000263655.3,ENST00000481714.1 |
| exon_skip_339781 | 2 | 68544288:68544439:68546353:68546454:68546903:68547019 | 68546353:68546454 | ENSG00000119865.4 | ENST00000481714.1 |
| exon_skip_339783 | 2 | 68544288:68544439:68546353:68546598:68546903:68547019 | 68546353:68546598 | ENSG00000119865.4 | ENST00000409862.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for CNRIP1 |
| 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 |
| ENST00000263655 | 68544288 | 68544439 | 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 |
| ENST00000263655 | 68544288 | 68544439 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for CNRIP1 |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for CNRIP1 |
| - 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_339778 | 68544289 | 68544439 | 68544378 | 68544378 | Frame_Shift_Del | C | - | p.D81fs |
| SKCM | TCGA-BF-A5EO-01 | exon_skip_339783 | 68546354 | 68546598 | 68546460 | 68546460 | Frame_Shift_Del | A | - | p.Y25fs |
| PAAD | TCGA-YB-A89D-01 | exon_skip_339778 | 68544289 | 68544439 | 68544303 | 68544303 | Nonsense_Mutation | G | A | p.Q106* |
| SKCM | TCGA-EE-A2GO-06 | exon_skip_339783 | 68546354 | 68546598 | 68546484 | 68546484 | Nonsense_Mutation | G | A | p.Q17* |
| - 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 |
| TUHR10TKB_KIDNEY | 68544289 | 68544439 | 68544329 | 68544329 | Missense_Mutation | G | A | p.T97M |
| NCIH2081_LUNG | 68544289 | 68544439 | 68544362 | 68544362 | Missense_Mutation | G | A | p.T86M |
| HCC2998_LARGE_INTESTINE | 68544289 | 68544439 | 68544387 | 68544387 | Missense_Mutation | G | A | p.P78S |
| PLCPRF5_LIVER | 68546354 | 68546598 | 68546399 | 68546399 | Missense_Mutation | G | C | p.S45C |
| PLCPRF5_LIVER | 68546354 | 68546454 | 68546399 | 68546399 | Missense_Mutation | G | C | p.S45C |
| RERFLCMS_LUNG | 68546354 | 68546598 | 68546480 | 68546480 | Missense_Mutation | G | T | p.P18H |
| TC106_BONE | 68546354 | 68546598 | 68546482 | 68546482 | Missense_Mutation | C | G | p.Q17H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 68544289 | 68544439 | 68544289 | 68544289 | Splice_Site | C | A | p.P110P |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CNRIP1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNRIP1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNRIP1 |
Top |
RelatedDrugs for CNRIP1 |
| 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 |
Top |
RelatedDiseases for CNRIP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|