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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 EVC2 |
 Gene summary |
| Gene information | Gene symbol | EVC2 | Gene ID | 132884 |
| Gene name | EvC ciliary complex subunit 2 | |
| Synonyms | LBN|WAD | |
| Cytomap | 4p16.2 | |
| Type of gene | protein-coding | |
| Description | limbinEllis van Creveld syndrome 2ellis-van Creveld syndrome protein 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q86UK5 | |
| Context | PubMed: EVC2 [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 EVC2 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 EVC2 |
| 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 EVC2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_428281 | 4 | 5564515:5564842:5566984:5567086:5570170:5570367 | 5566984:5567086 | ENSG00000173040.8 | ENST00000310917.2,ENST00000509670.1,ENST00000344408.5 |
| exon_skip_428284 | 4 | 5576411:5576499:5577966:5578181:5586349:5586577 | 5577966:5578181 | ENSG00000173040.8 | ENST00000310917.2,ENST00000509670.1,ENST00000344938.1,ENST00000344408.5,ENST00000475313.1 |
| exon_skip_428286 | 4 | 5617148:5617271:5620204:5620409:5624263:5624718 | 5620204:5620409 | ENSG00000173040.8 | ENST00000310917.2,ENST00000509670.1,ENST00000344938.1,ENST00000344408.5,ENST00000475313.1 |
| exon_skip_428288 | 4 | 5642248:5642565:5664833:5664973:5667241:5667376 | 5664833:5664973 | ENSG00000173040.8 | ENST00000310917.2,ENST00000509670.1,ENST00000344938.1,ENST00000344408.5,ENST00000475313.1 |
| exon_skip_428291 | 4 | 5664833:5664973:5667241:5667376:5682986:5683040 | 5667241:5667376 | ENSG00000173040.8 | ENST00000310917.2,ENST00000509670.1,ENST00000344938.1,ENST00000344408.5,ENST00000475313.1 |
| exon_skip_428293 | 4 | 5699319:5699374:5709773:5709867:5710555:5710790 | 5709773:5709867 | ENSG00000173040.8 | ENST00000509670.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EVC2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_428281 | 4 | 5564515:5564842:5566984:5567086:5570170:5570367 | 5566984:5567086 | ENSG00000173040.8 | ENST00000344408.5,ENST00000310917.2,ENST00000509670.1 |
| exon_skip_428284 | 4 | 5576411:5576499:5577966:5578181:5586349:5586577 | 5577966:5578181 | ENSG00000173040.8 | ENST00000475313.1,ENST00000344938.1,ENST00000344408.5,ENST00000310917.2,ENST00000509670.1 |
| exon_skip_428286 | 4 | 5617148:5617271:5620204:5620409:5624263:5624718 | 5620204:5620409 | ENSG00000173040.8 | ENST00000475313.1,ENST00000344938.1,ENST00000344408.5,ENST00000310917.2,ENST00000509670.1 |
| exon_skip_428288 | 4 | 5642248:5642565:5664833:5664973:5667241:5667376 | 5664833:5664973 | ENSG00000173040.8 | ENST00000475313.1,ENST00000344938.1,ENST00000344408.5,ENST00000310917.2,ENST00000509670.1 |
| exon_skip_428291 | 4 | 5664833:5664973:5667241:5667376:5682986:5683040 | 5667241:5667376 | ENSG00000173040.8 | ENST00000475313.1,ENST00000344938.1,ENST00000344408.5,ENST00000310917.2,ENST00000509670.1 |
| exon_skip_428293 | 4 | 5699319:5699374:5709773:5709867:5710555:5710790 | 5709773:5709867 | ENSG00000173040.8 | ENST00000509670.1 |
| 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 EVC2 |
| 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 |
| ENST00000344408 | 5577966 | 5578181 | Frame-shift |
| ENST00000344408 | 5620204 | 5620409 | Frame-shift |
| ENST00000344408 | 5664833 | 5664973 | Frame-shift |
| ENST00000344408 | 5566984 | 5567086 | In-frame |
| ENST00000344408 | 5667241 | 5667376 | 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 |
| ENST00000344408 | 5577966 | 5578181 | Frame-shift |
| ENST00000344408 | 5620204 | 5620409 | Frame-shift |
| ENST00000344408 | 5664833 | 5664973 | Frame-shift |
| ENST00000344408 | 5566984 | 5567086 | In-frame |
| ENST00000344408 | 5667241 | 5667376 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EVC2 |
| 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 |
| ENST00000344408 | 4407 | 1308 | 5667241 | 5667376 | 925 | 1059 | 290 | 335 |
| ENST00000344408 | 4407 | 1308 | 5566984 | 5567086 | 3612 | 3713 | 1186 | 1219 |
| 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 |
| ENST00000344408 | 4407 | 1308 | 5667241 | 5667376 | 925 | 1059 | 290 | 335 |
| ENST00000344408 | 4407 | 1308 | 5566984 | 5567086 | 3612 | 3713 | 1186 | 1219 |
| 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 |
| Q86UK5 | 290 | 335 | 27 | 1308 | Chain | ID=PRO_0000084363;Note=Limbin |
| Q86UK5 | 290 | 335 | 27 | 300 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86UK5 | 290 | 335 | 322 | 1308 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86UK5 | 290 | 335 | 301 | 321 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86UK5 | 1186 | 1219 | 27 | 1308 | Chain | ID=PRO_0000084363;Note=Limbin |
| Q86UK5 | 1186 | 1219 | 322 | 1308 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q86UK5 | 290 | 335 | 27 | 1308 | Chain | ID=PRO_0000084363;Note=Limbin |
| Q86UK5 | 290 | 335 | 27 | 300 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86UK5 | 290 | 335 | 322 | 1308 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86UK5 | 290 | 335 | 301 | 321 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86UK5 | 1186 | 1219 | 27 | 1308 | Chain | ID=PRO_0000084363;Note=Limbin |
| Q86UK5 | 1186 | 1219 | 322 | 1308 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for EVC2 |
| - 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-DD-A1EG-01 | exon_skip_428281 | 5566985 | 5567086 | 5567015 | 5567015 | Frame_Shift_Del | T | - | p.K1130fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_428281 | 5566985 | 5567086 | 5567050 | 5567050 | Frame_Shift_Del | T | - | p.K1118fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_428284 | 5577967 | 5578181 | 5578007 | 5578007 | Frame_Shift_Del | G | - | p.L998fs |
| LUAD | TCGA-69-7980-01 | exon_skip_428286 | 5620205 | 5620409 | 5620294 | 5620294 | Frame_Shift_Del | C | - | p.A793fs |
| LUAD | TCGA-69-7980-01 | exon_skip_428286 | 5620205 | 5620409 | 5620294 | 5620294 | Frame_Shift_Del | C | - | p.A873fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_428291 | 5667242 | 5667376 | 5667344 | 5667344 | Frame_Shift_Del | C | - | p.G221fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_428291 | 5667242 | 5667376 | 5667360 | 5667360 | Frame_Shift_Del | C | - | p.G216fs |
| COAD | TCGA-AA-A00A-01 | exon_skip_428286 | 5620205 | 5620409 | 5620303 | 5620304 | Frame_Shift_Ins | - | G | p.K870fs |
| STAD | TCGA-BR-8081-01 | exon_skip_428284 | 5577967 | 5578181 | 5578094 | 5578094 | Nonsense_Mutation | G | A | p.Q1049* |
| STAD | TCGA-CG-5723-01 | exon_skip_428286 | 5620205 | 5620409 | 5620258 | 5620258 | Nonsense_Mutation | G | A | p.R885* |
| STAD | TCGA-CG-5723-01 | exon_skip_428286 | 5620205 | 5620409 | 5620258 | 5620258 | Nonsense_Mutation | G | A | p.R885X |
| CESC | TCGA-C5-A1MQ-01 | exon_skip_428286 | 5620205 | 5620409 | 5620291 | 5620291 | Nonsense_Mutation | G | A | p.R794* |
| CESC | TCGA-C5-A1MQ-01 | exon_skip_428286 | 5620205 | 5620409 | 5620291 | 5620291 | Nonsense_Mutation | G | A | p.R874* |
| STAD | TCGA-BR-6706-01 | exon_skip_428286 | 5620205 | 5620409 | 5620291 | 5620291 | Nonsense_Mutation | G | A | p.R874* |
| - 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 |
| LIM1215_LARGE_INTESTINE | 5566985 | 5567086 | 5567015 | 5567015 | Frame_Shift_Del | T | - | p.K1210fs |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5577967 | 5578181 | 5578021 | 5578021 | Missense_Mutation | A | G | p.V1073A |
| SNUC1_LARGE_INTESTINE | 5577967 | 5578181 | 5578037 | 5578037 | Missense_Mutation | T | C | p.R1068G |
| MM383_SKIN | 5577967 | 5578181 | 5578061 | 5578061 | Missense_Mutation | C | T | p.E1060K |
| SKMES1_LUNG | 5577967 | 5578181 | 5578072 | 5578072 | Missense_Mutation | C | A | p.G1056V |
| DOV13_OVARY | 5577967 | 5578181 | 5578114 | 5578114 | Missense_Mutation | T | C | p.Q1042R |
| HEC6_ENDOMETRIUM | 5577967 | 5578181 | 5578141 | 5578141 | Missense_Mutation | A | G | p.V1033A |
| SNU324_PANCREAS | 5577967 | 5578181 | 5578141 | 5578141 | Missense_Mutation | A | G | p.V1033A |
| P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5577967 | 5578181 | 5578170 | 5578170 | Missense_Mutation | C | A | p.E1023D |
| MFE319_ENDOMETRIUM | 5620205 | 5620409 | 5620269 | 5620269 | Missense_Mutation | T | C | p.Q881R |
| SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5620205 | 5620409 | 5620359 | 5620359 | Missense_Mutation | A | G | p.M851T |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5667242 | 5667376 | 5667255 | 5667255 | Missense_Mutation | A | G | p.L331P |
| YAPC_PANCREAS | 5667242 | 5667376 | 5667255 | 5667255 | Missense_Mutation | A | G | p.L331P |
| TC71_BONE | 5667242 | 5667376 | 5667283 | 5667283 | Missense_Mutation | G | A | p.R322C |
| MDST8_LARGE_INTESTINE | 5667242 | 5667376 | 5667292 | 5667292 | Missense_Mutation | G | A | p.L319F |
| CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5620205 | 5620409 | 5620291 | 5620291 | Nonsense_Mutation | G | A | p.R874* |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5667242 | 5667376 | 5667243 | 5667243 | Splice_Site | C | T | p.R335Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EVC2 |
| 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 EVC2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EVC2 |
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RelatedDrugs for EVC2 |
| 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 EVC2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EVC2 | C0013903 | Ellis-Van Creveld Syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
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