|
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 DCUN1D1 |
Gene summary |
Gene information | Gene symbol | DCUN1D1 | Gene ID | 54165 |
Gene name | defective in cullin neddylation 1 domain containing 1 | |
Synonyms | DCNL1|DCUN1L1|RP42|SCCRO|SCRO|Tes3 | |
Cytomap | 3q26.33 | |
Type of gene | protein-coding | |
Description | DCN1-like protein 1DCN1, defective in cullin neddylation 1, domain containing 1DCUN1 domain-containing protein 1RP42 homologdefective in cullin neddylation protein 1-like protein 1squamous cell carcinoma-related oncogene | |
Modification date | 20180523 | |
UniProtAcc | Q96GG9 | |
Context | PubMed: DCUN1D1 [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 DCUN1D1 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 DCUN1D1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for DCUN1D1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_390330 | 3 | 182665337:182665420:182679013:182679144:182681668:182681837 | 182679013:182679144 | ENSG00000043093.9 | ENST00000492563.1,ENST00000469954.1,ENST00000292782.4 |
exon_skip_390334 | 3 | 182681787:182681837:182683466:182683541:182698274:182698308 | 182683466:182683541 | ENSG00000043093.9 | ENST00000492563.1 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for DCUN1D1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_390330 | 3 | 182665337:182665420:182679013:182679144:182681668:182681837 | 182679013:182679144 | ENSG00000043093.9 | ENST00000292782.4,ENST00000469954.1,ENST00000492563.1 |
exon_skip_390334 | 3 | 182681787:182681837:182683466:182683541:182698274:182698308 | 182683466:182683541 | ENSG00000043093.9 | ENST00000492563.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for DCUN1D1 |
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 |
ENST00000292782 | 182679013 | 182679144 | 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 |
ENST00000292782 | 182679013 | 182679144 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for DCUN1D1 |
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 DCUN1D1 |
- 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-G3-A3CJ-01 | exon_skip_390330 | 182679014 | 182679144 | 182679062 | 182679062 | Frame_Shift_Del | A | - | p.Y158fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_390334 | 182683467 | 182683541 | 182683472 | 182683472 | Frame_Shift_Del | T | - | p.T25fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_390334 | 182683467 | 182683541 | 182683472 | 182683472 | Frame_Shift_Del | T | - | p.T25fs |
STAD | TCGA-MX-A5UJ-01 | exon_skip_390334 | 182683467 | 182683541 | 182683528 | 182683528 | Frame_Shift_Del | G | - | p.S6fs |
STAD | TCGA-MX-A5UJ-01 | exon_skip_390334 | 182683467 | 182683541 | 182683528 | 182683528 | Frame_Shift_Del | G | - | p.S7fs |
LUSC | TCGA-85-6561-01 | exon_skip_390330 | 182679014 | 182679144 | 182679086 | 182679086 | Nonsense_Mutation | C | A | p.E150* |
LUSC | TCGA-85-6561-01 | exon_skip_390330 | 182679014 | 182679144 | 182679095 | 182679095 | Nonsense_Mutation | C | A | p.E147* |
LGG | TCGA-DU-6392-01 | exon_skip_390334 | 182683467 | 182683541 | 182683487 | 182683487 | Nonsense_Mutation | G | A | p.Q20* |
- 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 |
BICR78_UPPER_AERODIGESTIVE_TRACT | 182679014 | 182679144 | 182679026 | 182679026 | Missense_Mutation | G | T | p.Q170K |
CME1_SOFT_TISSUE | 182679014 | 182679144 | 182679026 | 182679026 | Missense_Mutation | G | T | p.Q170K |
OC316_OVARY | 182679014 | 182679144 | 182679026 | 182679026 | Missense_Mutation | G | T | p.Q170K |
OC316_OVARY | 182679014 | 182679144 | 182679032 | 182679033 | Missense_Mutation | GA | TT | p.167_168NP>KT |
ISTSL2_LUNG | 182679014 | 182679144 | 182679136 | 182679136 | Missense_Mutation | C | T | p.S133N |
SNU81_LARGE_INTESTINE | 182683467 | 182683541 | 182683497 | 182683497 | Missense_Mutation | C | A | p.M16I |
FTC238_THYROID | 182683467 | 182683541 | 182683508 | 182683508 | Missense_Mutation | G | A | p.R13C |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 182683467 | 182683541 | 182683508 | 182683508 | Missense_Mutation | G | T | p.R13S |
IM95_STOMACH | 182683467 | 182683541 | 182683508 | 182683508 | Missense_Mutation | G | A | p.R13C |
SNU81_LARGE_INTESTINE | 182679014 | 182679144 | 182679095 | 182679095 | Nonsense_Mutation | C | A | p.E147* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DCUN1D1 |
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 DCUN1D1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DCUN1D1 |
Top |
RelatedDrugs for DCUN1D1 |
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 DCUN1D1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |