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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 CCM2 |
 Gene summary |
| Gene information | Gene symbol | CCM2 | Gene ID | 83605 |
| Gene name | CCM2 scaffold protein | |
| Synonyms | C7orf22|OSM|PP10187 | |
| Cytomap | 7p13 | |
| Type of gene | protein-coding | |
| Description | cerebral cavernous malformations 2 proteinCCM2 scaffolding proteincerebral cavernous malformation 2malcaverninosmosensing scaffold for MEKK3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9BSQ5 | |
| Context | PubMed: CCM2 [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 CCM2 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 CCM2 |
| 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 CCM2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_465940 | 7 | 45039787:45039962:45069042:45069108:45077851:45078019 | 45069042:45069108 | ENSG00000136280.11 | ENST00000478582.1 |
| exon_skip_465944 | 7 | 45039847:45039962:45077851:45078025:45103516:45103600 | 45077851:45078025 | ENSG00000136280.11 | ENST00000488727.1,ENST00000544363.1,ENST00000258781.6 |
| exon_skip_465951 | 7 | 45039847:45039962:45103516:45103600:45104061:45104093 | 45103516:45103600 | ENSG00000136280.11 | ENST00000541586.1 |
| exon_skip_465969 | 7 | 45066613:45066865:45077851:45078025:45103516:45103600 | 45077851:45078025 | ENSG00000136280.11 | ENST00000478169.1 |
| exon_skip_465972 | 7 | 45067299:45067396:45077851:45078025:45103516:45103600 | 45077851:45078025 | ENSG00000136280.11 | ENST00000472223.1,ENST00000475551.1,ENST00000381112.3,ENST00000474617.1 |
| exon_skip_465974 | 7 | 45067299:45067396:45077851:45078025:45108041:45108178 | 45077851:45078025 | ENSG00000136280.11 | ENST00000480658.1 |
| exon_skip_465979 | 7 | 45077859:45078025:45102691:45102814:45103516:45103600 | 45102691:45102814 | ENSG00000136280.11 | ENST00000476594.1 |
| exon_skip_465981 | 7 | 45077859:45078025:45103516:45103600:45104061:45104093 | 45103516:45103600 | ENSG00000136280.11 | ENST00000478582.1,ENST00000472223.1,ENST00000475551.1,ENST00000488727.1,ENST00000381112.3,ENST00000478169.1,ENST00000544363.1,ENST00000258781.6,ENST00000474617.1,ENST00000461377.1 |
| exon_skip_465988 | 7 | 45077859:45078025:45104061:45104245:45109424:45109560 | 45104061:45104245 | ENSG00000136280.11 | ENST00000492883.1 |
| exon_skip_465996 | 7 | 45077859:45078025:45108041:45108178:45109424:45109560 | 45108041:45108178 | ENSG00000136280.11 | ENST00000480658.1 |
| exon_skip_466010 | 7 | 45104201:45104245:45108041:45108178:45109424:45109560 | 45108041:45108178 | ENSG00000136280.11 | ENST00000482714.1,ENST00000472223.1,ENST00000475551.1,ENST00000488727.1,ENST00000381112.3,ENST00000258781.6,ENST00000541586.1,ENST00000461377.1 |
| exon_skip_466022 | 7 | 45104201:45104245:45109424:45109560:45112324:45112382 | 45109424:45109560 | ENSG00000136280.11 | ENST00000478582.1,ENST00000492883.1 |
| exon_skip_466028 | 7 | 45104201:45104245:45112324:45112382:45113058:45113118 | 45112324:45112382 | ENSG00000136280.11 | ENST00000544363.1,ENST00000474617.1 |
| exon_skip_466034 | 7 | 45108092:45108178:45109424:45109560:45112324:45112382 | 45109424:45109560 | ENSG00000136280.11 | ENST00000477605.1,ENST00000480658.1,ENST00000475551.1,ENST00000381112.3,ENST00000258781.6,ENST00000541586.1,ENST00000461377.1 |
| exon_skip_466035 | 7 | 45108092:45108178:45109424:45109560:45113058:45113118 | 45109424:45109560 | ENSG00000136280.11 | ENST00000488727.1 |
| exon_skip_466040 | 7 | 45109424:45109560:45111348:45111471:45112324:45112382 | 45111348:45111471 | ENSG00000136280.11 | ENST00000480382.1 |
| exon_skip_466044 | 7 | 45109424:45109560:45112324:45112382:45113058:45113118 | 45112324:45112382 | ENSG00000136280.11 | ENST00000478582.1,ENST00000477605.1,ENST00000475551.1,ENST00000381112.3,ENST00000258781.6,ENST00000541586.1,ENST00000461377.1 |
| exon_skip_466047 | 7 | 45113058:45113170:45113868:45114007:45115375:45115951 | 45113868:45114007 | ENSG00000136280.11 | ENST00000477605.1,ENST00000475551.1,ENST00000488727.1,ENST00000381112.3,ENST00000544363.1,ENST00000258781.6,ENST00000541586.1,ENST00000474617.1,ENST00000461377.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCM2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_465940 | 7 | 45039787:45039962:45069042:45069108:45077851:45078019 | 45069042:45069108 | ENSG00000136280.11 | ENST00000478582.1 |
| exon_skip_465944 | 7 | 45039847:45039962:45077851:45078025:45103516:45103600 | 45077851:45078025 | ENSG00000136280.11 | ENST00000258781.6,ENST00000544363.1,ENST00000488727.1 |
| exon_skip_465951 | 7 | 45039847:45039962:45103516:45103600:45104061:45104093 | 45103516:45103600 | ENSG00000136280.11 | ENST00000541586.1 |
| exon_skip_465969 | 7 | 45066613:45066865:45077851:45078025:45103516:45103600 | 45077851:45078025 | ENSG00000136280.11 | ENST00000478169.1 |
| exon_skip_465972 | 7 | 45067299:45067396:45077851:45078025:45103516:45103600 | 45077851:45078025 | ENSG00000136280.11 | ENST00000475551.1,ENST00000381112.3,ENST00000474617.1,ENST00000472223.1 |
| exon_skip_465974 | 7 | 45067299:45067396:45077851:45078025:45108041:45108178 | 45077851:45078025 | ENSG00000136280.11 | ENST00000480658.1 |
| exon_skip_465979 | 7 | 45077859:45078025:45102691:45102814:45103516:45103600 | 45102691:45102814 | ENSG00000136280.11 | ENST00000476594.1 |
| exon_skip_465981 | 7 | 45077859:45078025:45103516:45103600:45104061:45104093 | 45103516:45103600 | ENSG00000136280.11 | ENST00000461377.1,ENST00000258781.6,ENST00000544363.1,ENST00000478582.1,ENST00000488727.1,ENST00000478169.1,ENST00000475551.1,ENST00000381112.3,ENST00000474617.1,ENST00000472223.1 |
| exon_skip_465988 | 7 | 45077859:45078025:45104061:45104245:45109424:45109560 | 45104061:45104245 | ENSG00000136280.11 | ENST00000492883.1 |
| exon_skip_465996 | 7 | 45077859:45078025:45108041:45108178:45109424:45109560 | 45108041:45108178 | ENSG00000136280.11 | ENST00000480658.1 |
| exon_skip_466010 | 7 | 45104201:45104245:45108041:45108178:45109424:45109560 | 45108041:45108178 | ENSG00000136280.11 | ENST00000461377.1,ENST00000258781.6,ENST00000541586.1,ENST00000488727.1,ENST00000475551.1,ENST00000381112.3,ENST00000482714.1,ENST00000472223.1 |
| exon_skip_466022 | 7 | 45104201:45104245:45109424:45109560:45112324:45112382 | 45109424:45109560 | ENSG00000136280.11 | ENST00000478582.1,ENST00000492883.1 |
| exon_skip_466028 | 7 | 45104201:45104245:45112324:45112382:45113058:45113118 | 45112324:45112382 | ENSG00000136280.11 | ENST00000544363.1,ENST00000474617.1 |
| exon_skip_466034 | 7 | 45108092:45108178:45109424:45109560:45112324:45112382 | 45109424:45109560 | ENSG00000136280.11 | ENST00000461377.1,ENST00000258781.6,ENST00000541586.1,ENST00000475551.1,ENST00000381112.3,ENST00000480658.1,ENST00000477605.1 |
| exon_skip_466035 | 7 | 45108092:45108178:45109424:45109560:45113058:45113118 | 45109424:45109560 | ENSG00000136280.11 | ENST00000488727.1 |
| exon_skip_466040 | 7 | 45109424:45109560:45111348:45111471:45112324:45112382 | 45111348:45111471 | ENSG00000136280.11 | ENST00000480382.1 |
| exon_skip_466044 | 7 | 45109424:45109560:45112324:45112382:45113058:45113118 | 45112324:45112382 | ENSG00000136280.11 | ENST00000461377.1,ENST00000258781.6,ENST00000541586.1,ENST00000478582.1,ENST00000475551.1,ENST00000381112.3,ENST00000477605.1 |
| exon_skip_466047 | 7 | 45113058:45113170:45113868:45114007:45115375:45115951 | 45113868:45114007 | ENSG00000136280.11 | ENST00000461377.1,ENST00000258781.6,ENST00000541586.1,ENST00000544363.1,ENST00000488727.1,ENST00000475551.1,ENST00000381112.3,ENST00000474617.1,ENST00000477605.1 |
| 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 CCM2 |
| 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 |
| ENST00000258781 | 45108041 | 45108178 | Frame-shift |
| ENST00000258781 | 45109424 | 45109560 | Frame-shift |
| ENST00000258781 | 45112324 | 45112382 | Frame-shift |
| ENST00000258781 | 45113868 | 45114007 | Frame-shift |
| ENST00000258781 | 45077851 | 45078025 | In-frame |
| ENST00000258781 | 45103516 | 45103600 | 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 |
| ENST00000258781 | 45108041 | 45108178 | Frame-shift |
| ENST00000258781 | 45109424 | 45109560 | Frame-shift |
| ENST00000258781 | 45112324 | 45112382 | Frame-shift |
| ENST00000258781 | 45113868 | 45114007 | Frame-shift |
| ENST00000258781 | 45077851 | 45078025 | In-frame |
| ENST00000258781 | 45103516 | 45103600 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCM2 |
| 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 |
| ENST00000258781 | 1911 | 444 | 45077851 | 45078025 | 180 | 353 | 10 | 68 |
| ENST00000258781 | 1911 | 444 | 45103516 | 45103600 | 354 | 437 | 68 | 96 |
| 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 |
| ENST00000258781 | 1911 | 444 | 45077851 | 45078025 | 180 | 353 | 10 | 68 |
| ENST00000258781 | 1911 | 444 | 45103516 | 45103600 | 354 | 437 | 68 | 96 |
| 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 CCM2 |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_465969 exon_skip_465974 exon_skip_465972 exon_skip_465944 | 45077852 | 45078025 | 45077882 | 45077882 | Frame_Shift_Del | T | - | p.F42fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_465969 exon_skip_465974 exon_skip_465972 exon_skip_465944 | 45077852 | 45078025 | 45077887 | 45077887 | Frame_Shift_Del | A | - | p.L43fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_465996 exon_skip_466010 | 45108042 | 45108178 | 45108067 | 45108067 | Frame_Shift_Del | C | - | p.S160fs |
| UCEC | TCGA-B5-A0JR-01 | exon_skip_465988 | 45104062 | 45104245 | 45104092 | 45104092 | Nonsense_Mutation | C | T | p.Q128* |
| LUSC | TCGA-46-3765-01 | exon_skip_466044 exon_skip_466028 | 45112325 | 45112382 | 45112369 | 45112369 | Nonsense_Mutation | G | T | p.E285* |
| READ | TCGA-DY-A1DC-01 | exon_skip_465996 exon_skip_466010 | 45108042 | 45108178 | 45108041 | 45108041 | Splice_Site | G | A | . |
| ESCA | TCGA-IG-A8O2-01 | exon_skip_466047 | 45113869 | 45114007 | 45113868 | 45113868 | Splice_Site | G | T | e9-1 |
| - 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 |
| KYSE30_OESOPHAGUS | 45077852 | 45078025 | 45077924 | 45077924 | Frame_Shift_Del | A | - | p.K35fs |
| KM12_LARGE_INTESTINE | 45077852 | 45078025 | 45077894 | 45077894 | Missense_Mutation | G | A | p.E25K |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45077852 | 45078025 | 45077963 | 45077963 | Missense_Mutation | T | G | p.S48A |
| EVSAT_BREAST | 45104062 | 45104245 | 45104152 | 45104152 | Missense_Mutation | G | A | p.G127R |
| GP2D_LARGE_INTESTINE | 45104062 | 45104245 | 45104191 | 45104191 | Missense_Mutation | G | A | p.A140T |
| GP5D_LARGE_INTESTINE | 45104062 | 45104245 | 45104191 | 45104191 | Missense_Mutation | G | A | p.A140T |
| SNUC5_LARGE_INTESTINE | 45104062 | 45104245 | 45104191 | 45104191 | Missense_Mutation | G | A | p.A140T |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45104062 | 45104245 | 45104219 | 45104219 | Missense_Mutation | C | T | p.A149V |
| LS411N_LARGE_INTESTINE | 45104062 | 45104245 | 45104236 | 45104236 | Missense_Mutation | C | A | p.L155M |
| MEWO_SKIN | 45108042 | 45108178 | 45108062 | 45108062 | Missense_Mutation | C | T | p.P165S |
| MEWO_SKIN | 45108042 | 45108178 | 45108062 | 45108063 | Missense_Mutation | CC | TT | p.P165F |
| MEWO_SKIN | 45108042 | 45108178 | 45108063 | 45108063 | Missense_Mutation | C | T | p.P165L |
| CW2_LARGE_INTESTINE | 45108042 | 45108178 | 45108101 | 45108101 | Missense_Mutation | A | G | p.S178G |
| OSC20_UPPER_AERODIGESTIVE_TRACT | 45108042 | 45108178 | 45108102 | 45108102 | Missense_Mutation | G | A | p.S178N |
| NCIH1651_LUNG | 45108042 | 45108178 | 45108131 | 45108131 | Missense_Mutation | G | C | p.G188R |
| HEC108_ENDOMETRIUM | 45109425 | 45109560 | 45109436 | 45109436 | Missense_Mutation | G | T | p.E207D |
| HEC6_ENDOMETRIUM | 45113869 | 45114007 | 45113897 | 45113897 | Missense_Mutation | T | C | p.I315T |
| IGROV1_OVARY | 45113869 | 45114007 | 45113930 | 45113930 | Missense_Mutation | G | A | p.R326H |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45113869 | 45114007 | 45113980 | 45113980 | Missense_Mutation | G | A | p.G343R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCM2 |
| 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_465988 | 7 | 45077859:45078025:45104061:45104245:45109424:45109560 | 45104061:45104245 | ENST00000492883.1 | LUAD | rs11552377 | chr7:45104131 | C/T | 1.83e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCM2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCM2 |
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RelatedDrugs for CCM2 |
| 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 CCM2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CCM2 | C1864041 | CEREBRAL CAVERNOUS MALFORMATIONS 2 | 2 | CTD_human;UNIPROT |
| CCM2 | C0752160 | Hemangioma, Cavernous, Central Nervous System | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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