|
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 CCPG1 |
Gene summary |
Gene information | Gene symbol | CCPG1 | Gene ID | 9236 |
Gene name | cell cycle progression 1 | |
Synonyms | CPR8 | |
Cytomap | 15q21.3 | |
Type of gene | protein-coding | |
Description | cell cycle progression protein 1cell cycle progression restoration protein 8 | |
Modification date | 20180519 | |
UniProtAcc | Q9ULG6 | |
Context | PubMed: CCPG1 [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 CCPG1 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 CCPG1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for CCPG1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_127378 | 15 | 55648509:55648607:55651736:55653142:55657385:55657474 | 55651736:55653142 | ENSG00000260916.1 | ENST00000442196.3 |
exon_skip_127379 | 15 | 55653037:55653142:55657385:55657507:55663990:55664228 | 55657385:55657507 | ENSG00000260916.1 | ENST00000425574.3,ENST00000310958.6,ENST00000442196.3,ENST00000569205.1,ENST00000568372.1 |
exon_skip_127380 | 15 | 55664184:55664242:55666352:55666448:55669146:55669348 | 55666352:55666448 | ENSG00000260916.1 | ENST00000563171.1 |
exon_skip_127382 | 15 | 55670497:55670574:55677797:55677912:55681562:55681631 | 55677797:55677912 | ENSG00000260916.1 | ENST00000570272.1,ENST00000425574.3,ENST00000310958.6,ENST00000442196.3,ENST00000569205.1,ENST00000564092.1,ENST00000568808.1,ENST00000563171.1 |
exon_skip_127383 | 15 | 55677797:55677912:55681562:55681631:55700418:55700457 | 55681562:55681631 | ENSG00000260916.1 | ENST00000425574.3,ENST00000310958.6,ENST00000442196.3,ENST00000568808.1,ENST00000563171.1 |
exon_skip_127385 | 15 | 55681562:55681631:55691982:55692124:55700418:55700457 | 55691982:55692124 | ENSG00000260916.1 | ENST00000564092.1 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for CCPG1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_127378 | 15 | 55648509:55648607:55651736:55653142:55657385:55657474 | 55651736:55653142 | ENSG00000260916.1 | ENST00000442196.3 |
exon_skip_127379 | 15 | 55653037:55653142:55657385:55657507:55663990:55664228 | 55657385:55657507 | ENSG00000260916.1 | ENST00000442196.3,ENST00000310958.6,ENST00000425574.3,ENST00000568372.1,ENST00000569205.1 |
exon_skip_127380 | 15 | 55664184:55664242:55666352:55666448:55669146:55669348 | 55666352:55666448 | ENSG00000260916.1 | ENST00000563171.1 |
exon_skip_127382 | 15 | 55670497:55670574:55677797:55677912:55681562:55681631 | 55677797:55677912 | ENSG00000260916.1 | ENST00000442196.3,ENST00000310958.6,ENST00000425574.3,ENST00000568808.1,ENST00000569205.1,ENST00000563171.1,ENST00000570272.1,ENST00000564092.1 |
exon_skip_127383 | 15 | 55677797:55677912:55681562:55681631:55700418:55700457 | 55681562:55681631 | ENSG00000260916.1 | ENST00000442196.3,ENST00000310958.6,ENST00000425574.3,ENST00000568808.1,ENST00000563171.1 |
exon_skip_127385 | 15 | 55681562:55681631:55691982:55692124:55700418:55700457 | 55691982:55692124 | ENSG00000260916.1 | ENST00000564092.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for CCPG1 |
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 |
ENST00000310958 | 55681562 | 55681631 | 3UTR-3CDS |
ENST00000310958 | 55657385 | 55657507 | Frame-shift |
ENST00000569205 | 55657385 | 55657507 | Frame-shift |
ENST00000310958 | 55677797 | 55677912 | Frame-shift |
ENST00000569205 | 55677797 | 55677912 | 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 |
ENST00000310958 | 55681562 | 55681631 | 3UTR-3CDS |
ENST00000310958 | 55657385 | 55657507 | Frame-shift |
ENST00000569205 | 55657385 | 55657507 | Frame-shift |
ENST00000310958 | 55677797 | 55677912 | Frame-shift |
ENST00000569205 | 55677797 | 55677912 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for CCPG1 |
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 CCPG1 |
- 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 |
CESC | TCGA-C5-A1MN-01 | exon_skip_127378 | 55651737 | 55653142 | 55651779 | 55651779 | Frame_Shift_Del | C | - | p.R731fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_127378 | 55651737 | 55653142 | 55652288 | 55652288 | Frame_Shift_Del | T | - | p.K561fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_127378 | 55651737 | 55653142 | 55652300 | 55652300 | Frame_Shift_Del | T | - | p.E557fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_127378 | 55651737 | 55653142 | 55652331 | 55652331 | Frame_Shift_Del | T | - | p.K547fs |
COAD | TCGA-AD-6964-01 | exon_skip_127378 | 55651737 | 55653142 | 55652399 | 55652399 | Frame_Shift_Del | T | - | p.F525fs |
COAD | TCGA-A6-6781-01 | exon_skip_127378 | 55651737 | 55653142 | 55652706 | 55652706 | Frame_Shift_Del | T | - | p.K422fs |
BRCA | TCGA-AN-A0FW-01 | exon_skip_127378 | 55651737 | 55653142 | 55652817 | 55652818 | Frame_Shift_Del | TC | - | p.E385fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_127378 | 55651737 | 55653142 | 55652823 | 55652823 | Frame_Shift_Del | T | - | p.K383fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_127378 | 55651737 | 55653142 | 55652876 | 55652876 | Frame_Shift_Del | T | - | p.K365fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_127379 | 55657386 | 55657507 | 55657398 | 55657398 | Frame_Shift_Del | A | - | p.F272fs |
STAD | TCGA-D7-8573-01 | exon_skip_127379 | 55657386 | 55657507 | 55657471 | 55657474 | Frame_Shift_Del | CTGA | - | p.247_248del |
STAD | TCGA-CD-A4MJ-01 | exon_skip_127378 | 55651737 | 55653142 | 55651779 | 55651780 | Frame_Shift_Ins | - | TA | p.R731fs |
STAD | TCGA-CD-A4MJ-01 | exon_skip_127378 | 55651737 | 55653142 | 55651780 | 55651781 | Frame_Shift_Ins | - | TA | p.R731fs |
LIHC | TCGA-BC-A112-01 | exon_skip_127378 | 55651737 | 55653142 | 55652153 | 55652154 | Frame_Shift_Ins | - | T | p.N606fs |
GBM | TCGA-19-2624-01 | exon_skip_127378 | 55651737 | 55653142 | 55652558 | 55652559 | Frame_Shift_Ins | - | C | p.G471fs |
BLCA | TCGA-BT-A20N-01 | exon_skip_127378 | 55651737 | 55653142 | 55652875 | 55652876 | Frame_Shift_Ins | - | T | p.H366fs |
BLCA | TCGA-BT-A20N-01 | exon_skip_127378 | 55651737 | 55653142 | 55652875 | 55652876 | Frame_Shift_Ins | - | T | p.K365fs |
LUSC | TCGA-60-2698-01 | exon_skip_127378 | 55651737 | 55653142 | 55651990 | 55651990 | Nonsense_Mutation | G | A | p.Q661* |
READ | TCGA-F5-6814-01 | exon_skip_127378 | 55651737 | 55653142 | 55652302 | 55652302 | Nonsense_Mutation | C | A | p.E557X |
UCEC | TCGA-AP-A0LM-01 | exon_skip_127378 | 55651737 | 55653142 | 55652803 | 55652803 | Nonsense_Mutation | G | A | p.R390* |
UCEC | TCGA-BS-A0UV-01 | exon_skip_127378 | 55651737 | 55653142 | 55652974 | 55652974 | Nonsense_Mutation | C | A | p.E333* |
UCEC | TCGA-BS-A0UF-01 | exon_skip_127379 | 55657386 | 55657507 | 55657460 | 55657460 | Nonsense_Mutation | C | A | p.E252* |
HNSC | TCGA-CV-7248-01 | exon_skip_127379 | 55657386 | 55657507 | 55657499 | 55657499 | Nonsense_Mutation | G | A | p.Q239* |
SARC | TCGA-3B-A9HS-01 | exon_skip_127382 | 55677798 | 55677912 | 55677813 | 55677813 | Nonsense_Mutation | G | A | p.Q54* |
COAD | TCGA-CA-6718-01 | exon_skip_127382 | 55677798 | 55677912 | 55677900 | 55677900 | Nonsense_Mutation | C | A | p.E25X |
HNSC | TCGA-CX-7086-01 | exon_skip_127382 | 55677798 | 55677912 | 55677908 | 55677908 | Nonsense_Mutation | G | T | p.S22* |
HNSC | TCGA-TN-A7HL-01 | exon_skip_127383 | 55681563 | 55681631 | 55681565 | 55681565 | Nonsense_Mutation | C | A | p.E20* |
- 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 |
COLO684_ENDOMETRIUM | 55651737 | 55653142 | 55651756 | 55651756 | Frame_Shift_Del | A | - | p.S739fs |
SNU175_LARGE_INTESTINE | 55651737 | 55653142 | 55652154 | 55652154 | Frame_Shift_Del | T | - | p.N606fs |
HCT116_LARGE_INTESTINE | 55651737 | 55653142 | 55652706 | 55652706 | Frame_Shift_Del | T | - | p.K422fs |
LS411N_LARGE_INTESTINE | 55651737 | 55653142 | 55652776 | 55652776 | Frame_Shift_Del | C | - | p.E399fs |
HEC108_ENDOMETRIUM | 55657386 | 55657507 | 55657442 | 55657445 | Frame_Shift_Del | TATC | - | p.DM257fs |
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55651737 | 55653142 | 55651864 | 55651865 | Frame_Shift_Ins | - | A | p.D703fs |
NMCG1_CENTRAL_NERVOUS_SYSTEM | 55651737 | 55653142 | 55653091 | 55653093 | In_Frame_Del | TCT | - | p.K293del |
HUPT4_PANCREAS | 55651737 | 55653142 | 55653091 | 55653093 | In_Frame_Del | TCT | - | p.K293del |
SNGM_ENDOMETRIUM | 55651737 | 55653142 | 55653091 | 55653093 | In_Frame_Del | TCT | - | p.K293del |
OCUBM_BREAST | 55651737 | 55653142 | 55651734 | 55651734 | Missense_Mutation | G | A | p.S746L |
NCIH446_LUNG | 55651737 | 55653142 | 55651767 | 55651767 | Missense_Mutation | C | T | p.G735D |
JHUEM7_ENDOMETRIUM | 55651737 | 55653142 | 55651945 | 55651945 | Missense_Mutation | C | T | p.E676K |
NCIH322_LUNG | 55651737 | 55653142 | 55651980 | 55651980 | Missense_Mutation | A | T | p.M664K |
HEC251_ENDOMETRIUM | 55651737 | 55653142 | 55652204 | 55652204 | Missense_Mutation | T | G | p.Q589H |
HLE_LIVER | 55651737 | 55653142 | 55652274 | 55652274 | Missense_Mutation | A | C | p.F566C |
HLF_LIVER | 55651737 | 55653142 | 55652274 | 55652274 | Missense_Mutation | A | C | p.F566C |
JHUEM7_ENDOMETRIUM | 55651737 | 55653142 | 55652317 | 55652317 | Missense_Mutation | A | C | p.F552V |
EVSAT_BREAST | 55651737 | 55653142 | 55652394 | 55652394 | Missense_Mutation | G | A | p.S526L |
EW1_BONE | 55651737 | 55653142 | 55652601 | 55652601 | Missense_Mutation | T | C | p.D457G |
LOVO_LARGE_INTESTINE | 55651737 | 55653142 | 55652665 | 55652665 | Missense_Mutation | G | A | p.R436W |
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55651737 | 55653142 | 55652688 | 55652688 | Missense_Mutation | C | T | p.R428Q |
PCI4B_UPPER_AERODIGESTIVE_TRACT | 55651737 | 55653142 | 55652745 | 55652745 | Missense_Mutation | T | C | p.H409R |
HCT15_LARGE_INTESTINE | 55651737 | 55653142 | 55652778 | 55652778 | Missense_Mutation | C | A | p.G398V |
SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55651737 | 55653142 | 55652780 | 55652780 | Missense_Mutation | C | G | p.R397S |
ANGMCSS_CENTRAL_NERVOUS_SYSTEM | 55651737 | 55653142 | 55652822 | 55652822 | Missense_Mutation | C | G | p.K383N |
ANGMCSS_CENTRAL_NERVOUS_SYSTEM | 55651737 | 55653142 | 55652831 | 55652831 | Missense_Mutation | C | G | p.K380N |
HCC515_LUNG | 55651737 | 55653142 | 55652872 | 55652872 | Missense_Mutation | T | A | p.S367C |
SISO_CERVIX | 55651737 | 55653142 | 55653075 | 55653075 | Missense_Mutation | T | A | p.Q299L |
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55651737 | 55653142 | 55653075 | 55653075 | Missense_Mutation | T | A | p.Q299L |
P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55657386 | 55657507 | 55657486 | 55657486 | Missense_Mutation | C | T | p.R243H |
D245MG_CENTRAL_NERVOUS_SYSTEM | 55657386 | 55657507 | 55657495 | 55657495 | Missense_Mutation | A | G | p.I240T |
EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55677798 | 55677912 | 55677835 | 55677835 | Missense_Mutation | C | G | p.E46D |
HEC6_ENDOMETRIUM | 55677798 | 55677912 | 55677896 | 55677896 | Missense_Mutation | A | T | p.M26K |
SNU1040_LARGE_INTESTINE | 55677798 | 55677912 | 55677909 | 55677909 | Missense_Mutation | A | G | p.S22P |
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55681563 | 55681631 | 55681586 | 55681586 | Missense_Mutation | C | T | p.G13S |
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55651737 | 55653142 | 55652059 | 55652059 | Nonsense_Mutation | G | A | p.Q638* |
A704_KIDNEY | 55651737 | 55653142 | 55652401 | 55652401 | Nonsense_Mutation | T | A | p.K524* |
M14_SKIN | 55651737 | 55653142 | 55652881 | 55652881 | Nonsense_Mutation | T | A | p.K364* |
ANGMCSS_CENTRAL_NERVOUS_SYSTEM | 55657386 | 55657507 | 55657460 | 55657460 | Nonsense_Mutation | C | A | p.E252* |
HEC1A_ENDOMETRIUM | 55651737 | 55653142 | 55653141 | 55653141 | Splice_Site | G | T | p.S277* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCPG1 |
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_127378 | 15 | 55648509:55648607:55651736:55653142:55657385:55657474 | 55651736:55653142 | ENST00000442196.3 | GBM | rs501231 | chr15:55653031 | A/G | 2.44e-06 |
exon_skip_127378 | 15 | 55648509:55648607:55651736:55653142:55657385:55657474 | 55651736:55653142 | ENST00000442196.3 | BRCA | rs501231 | chr15:55653031 | A/G | 7.97e-11 |
exon_skip_127378 | 15 | 55648509:55648607:55651736:55653142:55657385:55657474 | 55651736:55653142 | ENST00000442196.3 | LGG | rs501231 | chr15:55653031 | A/G | 7.63e-22 |
exon_skip_127378 | 15 | 55648509:55648607:55651736:55653142:55657385:55657474 | 55651736:55653142 | ENST00000442196.3 | KIRC | rs501231 | chr15:55653031 | A/G | 1.05e-05 |
exon_skip_127378 | 15 | 55648509:55648607:55651736:55653142:55657385:55657474 | 55651736:55653142 | ENST00000442196.3 | LUAD | rs501231 | chr15:55653031 | A/G | 1.28e-04 |
exon_skip_127378 | 15 | 55648509:55648607:55651736:55653142:55657385:55657474 | 55651736:55653142 | ENST00000442196.3 | PCPG | rs501231 | chr15:55653031 | A/G | 3.20e-10 |
exon_skip_127378 | 15 | 55648509:55648607:55651736:55653142:55657385:55657474 | 55651736:55653142 | ENST00000442196.3 | PRAD | rs501231 | chr15:55653031 | A/G | 1.80e-05 |
exon_skip_127378 | 15 | 55648509:55648607:55651736:55653142:55657385:55657474 | 55651736:55653142 | ENST00000442196.3 | SARC | rs501231 | chr15:55653031 | A/G | 7.28e-05 |
exon_skip_127378 | 15 | 55648509:55648607:55651736:55653142:55657385:55657474 | 55651736:55653142 | ENST00000442196.3 | STAD | rs501231 | chr15:55653031 | A/G | 3.11e-04 |
exon_skip_127378 | 15 | 55648509:55648607:55651736:55653142:55657385:55657474 | 55651736:55653142 | ENST00000442196.3 | THCA | rs501231 | chr15:55653031 | A/G | 2.31e-06 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCPG1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCPG1 |
Top |
RelatedDrugs for CCPG1 |
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 CCPG1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |