|
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | 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 GOPC |
Gene summary |
| Gene information | Gene symbol | GOPC | Gene ID | 57120 |
| Gene name | golgi associated PDZ and coiled-coil motif containing | |
| Synonyms | CAL|FIG|GOPC1|PIST|dJ94G16.2 | |
| Cytomap | 6q22.1 | |
| Type of gene | protein-coding | |
| Description | Golgi-associated PDZ and coiled-coil motif-containing proteinCFTR-associated ligandPDZ protein interacting specifically with TC10PDZ/coiled-coil domain binding partner for the rho-family GTPase TC10dJ94G16.2 PISTfused in glioblastomagolgi-associated | |
| Modification date | 20180519 | |
| UniProtAcc | Q9HD26 | |
| Context | PubMed: GOPC [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 GOPC 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 GOPC |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for GOPC |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_462009 | 6 | 117888016:117888197:117890734:117890899:117892022:117892118 | 117890734:117890899 | ENSG00000047932.9 | ENST00000467125.1,ENST00000052569.6,ENST00000368498.2,ENST00000535237.1 |
| exon_skip_462012 | 6 | 117890734:117890899:117892022:117892118:117894629:117894734 | 117892022:117892118 | ENSG00000047932.9 | ENST00000052569.6,ENST00000368498.2,ENST00000535237.1 |
| exon_skip_462013 | 6 | 117894629:117894795:117896339:117896515:117900062:117900227 | 117896339:117896515 | ENSG00000047932.9 | ENST00000052569.6 |
| exon_skip_462014 | 6 | 117896343:117896515:117898610:117898634:117900062:117900227 | 117898610:117898634 | ENSG00000047932.9 | ENST00000368498.2 |
| exon_skip_462015 | 6 | 117896343:117896515:117900062:117900227:117923166:117923527 | 117900062:117900227 | ENSG00000047932.9 | ENST00000052569.6 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for GOPC |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_462009 | 6 | 117888016:117888197:117890734:117890899:117892022:117892118 | 117890734:117890899 | ENSG00000047932.9 | ENST00000467125.1,ENST00000368498.2,ENST00000052569.6,ENST00000535237.1 |
| exon_skip_462012 | 6 | 117890734:117890899:117892022:117892118:117894629:117894734 | 117892022:117892118 | ENSG00000047932.9 | ENST00000368498.2,ENST00000052569.6,ENST00000535237.1 |
| exon_skip_462013 | 6 | 117894629:117894795:117896339:117896515:117900062:117900227 | 117896339:117896515 | ENSG00000047932.9 | ENST00000052569.6 |
| exon_skip_462014 | 6 | 117896343:117896515:117898610:117898634:117900062:117900227 | 117898610:117898634 | ENSG00000047932.9 | ENST00000368498.2 |
| exon_skip_462015 | 6 | 117896343:117896515:117900062:117900227:117923166:117923527 | 117900062:117900227 | ENSG00000047932.9 | ENST00000052569.6 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for GOPC |
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 |
| ENST00000368498 | 117890734 | 117890899 | In-frame |
| ENST00000368498 | 117892022 | 117892118 | In-frame |
| ENST00000368498 | 117898610 | 117898634 | 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 |
| ENST00000368498 | 117890734 | 117890899 | In-frame |
| ENST00000368498 | 117892022 | 117892118 | In-frame |
| ENST00000368498 | 117898610 | 117898634 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for GOPC |
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 |
| ENST00000368498 | 4467 | 462 | 117892022 | 117892118 | 893 | 988 | 272 | 304 |
| ENST00000368498 | 4467 | 462 | 117890734 | 117890899 | 989 | 1153 | 304 | 359 |
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 |
| ENST00000368498 | 4467 | 462 | 117892022 | 117892118 | 893 | 988 | 272 | 304 |
| ENST00000368498 | 4467 | 462 | 117890734 | 117890899 | 989 | 1153 | 304 | 359 |
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 |
| Q9HD26 | 272 | 304 | 287 | 292 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 272 | 304 | 295 | 297 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NMO |
| Q9HD26 | 272 | 304 | 301 | 306 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 272 | 304 | 2 | 462 | Chain | ID=PRO_0000087542;Note=Golgi-associated PDZ and coiled-coil motif-containing protein |
| Q9HD26 | 272 | 304 | 288 | 371 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q9HD26 | 304 | 359 | 305 | 319 | Alternative sequence | ID=VSP_016063;Note=In isoform 3. GGKEHGVPILISEIH->VRSSTSSIIFYSYLV;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q9HD26 | 304 | 359 | 320 | 462 | Alternative sequence | ID=VSP_016064;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q9HD26 | 304 | 359 | 301 | 306 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 304 | 359 | 311 | 318 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 304 | 359 | 334 | 339 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 304 | 359 | 342 | 344 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DC2 |
| Q9HD26 | 304 | 359 | 346 | 348 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LOB |
| Q9HD26 | 304 | 359 | 2 | 462 | Chain | ID=PRO_0000087542;Note=Golgi-associated PDZ and coiled-coil motif-containing protein |
| Q9HD26 | 304 | 359 | 288 | 371 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q9HD26 | 304 | 359 | 307 | 309 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 304 | 359 | 323 | 327 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 304 | 359 | 349 | 357 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
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 |
| Q9HD26 | 272 | 304 | 287 | 292 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 272 | 304 | 295 | 297 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NMO |
| Q9HD26 | 272 | 304 | 301 | 306 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 272 | 304 | 2 | 462 | Chain | ID=PRO_0000087542;Note=Golgi-associated PDZ and coiled-coil motif-containing protein |
| Q9HD26 | 272 | 304 | 288 | 371 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q9HD26 | 304 | 359 | 305 | 319 | Alternative sequence | ID=VSP_016063;Note=In isoform 3. GGKEHGVPILISEIH->VRSSTSSIIFYSYLV;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q9HD26 | 304 | 359 | 320 | 462 | Alternative sequence | ID=VSP_016064;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q9HD26 | 304 | 359 | 301 | 306 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 304 | 359 | 311 | 318 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 304 | 359 | 334 | 339 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 304 | 359 | 342 | 344 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DC2 |
| Q9HD26 | 304 | 359 | 346 | 348 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LOB |
| Q9HD26 | 304 | 359 | 2 | 462 | Chain | ID=PRO_0000087542;Note=Golgi-associated PDZ and coiled-coil motif-containing protein |
| Q9HD26 | 304 | 359 | 288 | 371 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q9HD26 | 304 | 359 | 307 | 309 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 304 | 359 | 323 | 327 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
| Q9HD26 | 304 | 359 | 349 | 357 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JOK |
Top |
SNVs in the skipped exons for GOPC |
- 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_462009 | 117890735 | 117890899 | 117890812 | 117890812 | Frame_Shift_Del | C | - | p.D334fs |
| LUAD | TCGA-05-4398-01 | exon_skip_462013 | 117896340 | 117896515 | 117896421 | 117896421 | Frame_Shift_Del | C | - | p.R190fs |
| LUAD | TCGA-05-4398-01 | exon_skip_462013 | 117896340 | 117896515 | 117896421 | 117896421 | Frame_Shift_Del | C | - | p.R191fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_462015 | 117900063 | 117900227 | 117900168 | 117900169 | Frame_Shift_Ins | - | A | p.*115fs |
- 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 |
| COLO741_SKIN | 117896340 | 117896515 | 117896488 | 117896489 | Frame_Shift_Ins | - | T | p.E168fs |
| CORL105_LUNG | 117896340 | 117896515 | 117896488 | 117896489 | Frame_Shift_Ins | - | T | p.E168fs |
| MDAMB134VI_BREAST | 117896340 | 117896515 | 117896488 | 117896489 | Frame_Shift_Ins | - | T | p.E168fs |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117896340 | 117896515 | 117896488 | 117896489 | Frame_Shift_Ins | - | T | p.E168fs |
| T173_FIBROBLAST | 117896340 | 117896515 | 117896488 | 117896489 | Frame_Shift_Ins | - | T | p.E168fs |
| TO175T_FIBROBLAST | 117896340 | 117896515 | 117896488 | 117896489 | Frame_Shift_Ins | - | T | p.E168fs |
| YD10B_UPPER_AERODIGESTIVE_TRACT | 117896340 | 117896515 | 117896488 | 117896489 | Frame_Shift_Ins | - | T | p.E168fs |
| FUOV1_OVARY | 117900063 | 117900227 | 117900106 | 117900107 | Frame_Shift_Ins | - | A | p.K136fs |
| NCIH847_LUNG | 117890735 | 117890899 | 117890773 | 117890773 | Missense_Mutation | T | A | p.T347S |
| KM12_LARGE_INTESTINE | 117890735 | 117890899 | 117890818 | 117890818 | Missense_Mutation | C | T | p.V332I |
| SNU1040_LARGE_INTESTINE | 117890735 | 117890899 | 117890824 | 117890824 | Missense_Mutation | G | T | p.L330M |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117896340 | 117896515 | 117896347 | 117896347 | Missense_Mutation | C | G | p.A215P |
| HCC366_LUNG | 117896340 | 117896515 | 117896490 | 117896490 | Missense_Mutation | T | G | p.K167T |
| 201T_LUNG | 117896340 | 117896515 | 117896490 | 117896490 | Missense_Mutation | T | A | p.K167I |
| RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117896340 | 117896515 | 117896500 | 117896500 | Missense_Mutation | C | T | p.A164T |
| OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117896340 | 117896515 | 117896508 | 117896508 | Missense_Mutation | T | C | p.E161G |
| GAK_SKIN | 117900063 | 117900227 | 117900097 | 117900097 | Missense_Mutation | T | C | p.Q139R |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117900063 | 117900227 | 117900112 | 117900112 | Missense_Mutation | T | C | p.H134R |
| NCIH522_LUNG | 117900063 | 117900227 | 117900224 | 117900224 | Missense_Mutation | G | C | p.Q97E |
| DJM1_SKIN | 117892023 | 117892118 | 117892030 | 117892030 | Nonsense_Mutation | G | C | p.S302* |
| A704_KIDNEY | 117892023 | 117892118 | 117892023 | 117892023 | Splice_Site | T | G | p.T304T |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GOPC |
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 GOPC |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GOPC |
Top |
RelatedDrugs for GOPC |
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 GOPC |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GOPC | C0025202 | melanoma | 1 | CTD_human |