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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 CCAR2 |
Gene summary |
Gene information | Gene symbol | CCAR2 | Gene ID | 57805 |
Gene name | cell cycle and apoptosis regulator 2 | |
Synonyms | DBC-1|DBC1|KIAA1967|NET35|p30 DBC|p30DBC | |
Cytomap | 8p21.3 | |
Type of gene | protein-coding | |
Description | cell cycle and apoptosis regulator protein 2cell division cycle and apoptosis regulator protein 2deleted in breast cancer 1p30 DBC protein | |
Modification date | 20180522 | |
UniProtAcc | Q8N163 | |
Context | PubMed: CCAR2 [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 |
CCAR2 | GO:0031647 | regulation of protein stability | 23398316 |
CCAR2 | GO:0032435 | negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 23398316 |
CCAR2 | GO:0043653 | mitochondrial fragmentation involved in apoptotic process | 15824730 |
CCAR2 | GO:0045892 | negative regulation of transcription, DNA-templated | 20160719 |
CCAR2 | GO:0090311 | regulation of protein deacetylation | 21030595 |
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Exon skipping events across known transcript of Ensembl for CCAR2 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 CCAR2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CCAR2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_482209 | 8 | 22462303:22462355:22463248:22463344:22463597:22463689 | 22463248:22463344 | ENSG00000158941.12 | ENST00000521301.1 |
exon_skip_482211 | 8 | 22464119:22464211:22464422:22464537:22464708:22464802 | 22464422:22464537 | ENSG00000158941.12 | ENST00000518989.1,ENST00000308511.4,ENST00000523801.1,ENST00000389279.3,ENST00000523349.1,ENST00000521837.1 |
exon_skip_482212 | 8 | 22465481:22465578:22470529:22470649:22471604:22471827 | 22470529:22470649 | ENSG00000158941.12 | ENST00000520861.1,ENST00000308511.4,ENST00000389279.3 |
exon_skip_482214 | 8 | 22473524:22473761:22474932:22475077:22475208:22475291 | 22474932:22475077 | ENSG00000158941.12 | ENST00000520861.1,ENST00000308511.4,ENST00000389279.3,ENST00000520738.1 |
exon_skip_482217 | 8 | 22475211:22475291:22475861:22476008:22476129:22476241 | 22475861:22476008 | ENSG00000158941.12 | ENST00000520861.1,ENST00000308511.4,ENST00000389279.3,ENST00000520738.1,ENST00000521436.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCAR2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_482209 | 8 | 22462303:22462355:22463248:22463344:22463597:22463689 | 22463248:22463344 | ENSG00000158941.12 | ENST00000521301.1 |
exon_skip_482211 | 8 | 22464119:22464211:22464422:22464537:22464708:22464802 | 22464422:22464537 | ENSG00000158941.12 | ENST00000308511.4,ENST00000523801.1,ENST00000389279.3,ENST00000521837.1,ENST00000523349.1,ENST00000518989.1 |
exon_skip_482212 | 8 | 22465481:22465578:22470529:22470649:22471604:22471827 | 22470529:22470649 | ENSG00000158941.12 | ENST00000308511.4,ENST00000389279.3,ENST00000520861.1 |
exon_skip_482213 | 8 | 22471604:22471827:22471902:22472016:22472350:22472514 | 22471902:22472016 | ENSG00000158941.12 | ENST00000308511.4,ENST00000389279.3,ENST00000520861.1,ENST00000522599.1 |
exon_skip_482214 | 8 | 22473524:22473761:22474932:22475077:22475208:22475291 | 22474932:22475077 | ENSG00000158941.12 | ENST00000308511.4,ENST00000389279.3,ENST00000520861.1,ENST00000520738.1 |
exon_skip_482217 | 8 | 22475211:22475291:22475861:22476008:22476129:22476241 | 22475861:22476008 | ENSG00000158941.12 | ENST00000308511.4,ENST00000389279.3,ENST00000520861.1,ENST00000520738.1,ENST00000521436.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CCAR2 |
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 |
ENST00000308511 | 22464422 | 22464537 | Frame-shift |
ENST00000389279 | 22464422 | 22464537 | Frame-shift |
ENST00000308511 | 22474932 | 22475077 | Frame-shift |
ENST00000389279 | 22474932 | 22475077 | Frame-shift |
ENST00000308511 | 22470529 | 22470649 | In-frame |
ENST00000389279 | 22470529 | 22470649 | In-frame |
ENST00000308511 | 22475861 | 22476008 | In-frame |
ENST00000389279 | 22475861 | 22476008 | 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 |
ENST00000308511 | 22464422 | 22464537 | Frame-shift |
ENST00000389279 | 22464422 | 22464537 | Frame-shift |
ENST00000308511 | 22474932 | 22475077 | Frame-shift |
ENST00000389279 | 22474932 | 22475077 | Frame-shift |
ENST00000308511 | 22470529 | 22470649 | In-frame |
ENST00000389279 | 22470529 | 22470649 | In-frame |
ENST00000308511 | 22471902 | 22472016 | In-frame |
ENST00000389279 | 22471902 | 22472016 | In-frame |
ENST00000308511 | 22475861 | 22476008 | In-frame |
ENST00000389279 | 22475861 | 22476008 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCAR2 |
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 |
ENST00000308511 | 4870 | 923 | 22470529 | 22470649 | 834 | 953 | 195 | 234 |
ENST00000389279 | 3997 | 923 | 22470529 | 22470649 | 1004 | 1123 | 195 | 234 |
ENST00000308511 | 4870 | 923 | 22475861 | 22476008 | 2323 | 2469 | 691 | 740 |
ENST00000389279 | 3997 | 923 | 22475861 | 22476008 | 2493 | 2639 | 691 | 740 |
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 |
ENST00000308511 | 4870 | 923 | 22470529 | 22470649 | 834 | 953 | 195 | 234 |
ENST00000389279 | 3997 | 923 | 22470529 | 22470649 | 1004 | 1123 | 195 | 234 |
ENST00000308511 | 4870 | 923 | 22471902 | 22472016 | 1177 | 1290 | 309 | 347 |
ENST00000389279 | 3997 | 923 | 22471902 | 22472016 | 1347 | 1460 | 309 | 347 |
ENST00000308511 | 4870 | 923 | 22475861 | 22476008 | 2323 | 2469 | 691 | 740 |
ENST00000389279 | 3997 | 923 | 22475861 | 22476008 | 2493 | 2639 | 691 | 740 |
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 CCAR2 |
- 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 |
UVM | TCGA-YZ-A980-01 | exon_skip_482217 | 22475862 | 22476008 | 22475962 | 22475963 | Frame_Shift_Ins | - | A | p.E726fs |
- 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 |
HEC1_ENDOMETRIUM | 22463249 | 22463344 | 22463309 | 22463309 | Missense_Mutation | G | A | p.R8Q |
CL11_LARGE_INTESTINE | 22463249 | 22463344 | 22463332 | 22463332 | Missense_Mutation | C | T | p.R16C |
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22464423 | 22464537 | 22464516 | 22464516 | Missense_Mutation | G | T | p.K112N |
MDAMB361_BREAST | 22470530 | 22470649 | 22470645 | 22470645 | Missense_Mutation | G | A | p.D234N |
ABC1_LUNG | 22474933 | 22475077 | 22474954 | 22474954 | Missense_Mutation | A | C | p.K623Q |
HCC2998_LARGE_INTESTINE | 22474933 | 22475077 | 22474980 | 22474980 | Missense_Mutation | A | C | p.E631D |
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22474933 | 22475077 | 22475032 | 22475032 | Missense_Mutation | G | A | p.D649N |
NCIH1155_LUNG | 22475862 | 22476008 | 22475884 | 22475884 | Missense_Mutation | C | T | p.A699V |
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 22475862 | 22476008 | 22475913 | 22475913 | Missense_Mutation | T | G | p.F709V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCAR2 |
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 CCAR2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCAR2 |
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RelatedDrugs for CCAR2 |
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 CCAR2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
CCAR2 | C0043020 | Wallerian Degeneration | 1 | CTD_human |