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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 DENND1C |
Gene summary |
Gene information | Gene symbol | DENND1C | Gene ID | 79958 |
Gene name | DENN domain containing 1C | |
Synonyms | FAM31C | |
Cytomap | 19p13.3 | |
Type of gene | protein-coding | |
Description | DENN domain-containing protein 1CDENN/MADD domain containing 1Cconnecdenn 3family with sequence similarity 31, member C | |
Modification date | 20180523 | |
UniProtAcc | Q8IV53 | |
Context | PubMed: DENND1C [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 DENND1C 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 DENND1C |
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 DENND1C |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_313858 | 19 | 6468856:6468964:6469606:6469651:6470305:6470377 | 6469606:6469651 | ENSG00000205744.5 | ENST00000543576.1,ENST00000590818.1,ENST00000590444.1,ENST00000590867.1,ENST00000381480.2 |
exon_skip_313859 | 19 | 6470305:6470377:6471275:6471316:6471416:6471507 | 6471275:6471316 | ENSG00000205744.5 | ENST00000543576.1,ENST00000590818.1,ENST00000590867.1,ENST00000381480.2 |
exon_skip_313860 | 19 | 6471275:6471316:6471416:6471507:6472899:6473004 | 6471416:6471507 | ENSG00000205744.5 | ENST00000543576.1,ENST00000590818.1,ENST00000590867.1,ENST00000381480.2 |
exon_skip_313863 | 19 | 6472899:6473004:6475284:6475410:6475494:6475596 | 6475284:6475410 | ENSG00000205744.5 | ENST00000543576.1,ENST00000590818.1,ENST00000590444.1,ENST00000590867.1,ENST00000381480.2 |
exon_skip_313865 | 19 | 6475494:6475596:6475716:6475762:6475847:6475948 | 6475716:6475762 | ENSG00000205744.5 | ENST00000543576.1,ENST00000381480.2 |
exon_skip_313869 | 19 | 6479679:6479729:6479869:6479913:6481689:6481798 | 6479869:6479913 | ENSG00000205744.5 | ENST00000590173.1,ENST00000591030.1 |
exon_skip_313870 | 19 | 6479869:6479913:6479997:6480001:6481689:6481785 | 6479997:6480001 | ENSG00000205744.5 | ENST00000592543.1,ENST00000586046.1 |
exon_skip_313872 | 19 | 6479869:6479913:6479997:6480062:6481689:6481785 | 6479997:6480062 | ENSG00000205744.5 | ENST00000381480.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DENND1C |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_313858 | 19 | 6468856:6468964:6469606:6469651:6470305:6470377 | 6469606:6469651 | ENSG00000205744.5 | ENST00000590444.1,ENST00000381480.2,ENST00000590818.1,ENST00000590867.1,ENST00000543576.1 |
exon_skip_313859 | 19 | 6470305:6470377:6471275:6471316:6471416:6471507 | 6471275:6471316 | ENSG00000205744.5 | ENST00000381480.2,ENST00000590818.1,ENST00000590867.1,ENST00000543576.1 |
exon_skip_313860 | 19 | 6471275:6471316:6471416:6471507:6472899:6473004 | 6471416:6471507 | ENSG00000205744.5 | ENST00000381480.2,ENST00000590818.1,ENST00000590867.1,ENST00000543576.1 |
exon_skip_313863 | 19 | 6472899:6473004:6475284:6475410:6475494:6475596 | 6475284:6475410 | ENSG00000205744.5 | ENST00000590444.1,ENST00000381480.2,ENST00000590818.1,ENST00000590867.1,ENST00000543576.1 |
exon_skip_313865 | 19 | 6475494:6475596:6475716:6475762:6475847:6475948 | 6475716:6475762 | ENSG00000205744.5 | ENST00000381480.2,ENST00000543576.1 |
exon_skip_313869 | 19 | 6479679:6479729:6479869:6479913:6481689:6481798 | 6479869:6479913 | ENSG00000205744.5 | ENST00000590173.1,ENST00000591030.1 |
exon_skip_313870 | 19 | 6479869:6479913:6479997:6480001:6481689:6481785 | 6479997:6480001 | ENSG00000205744.5 | ENST00000592543.1,ENST00000586046.1 |
exon_skip_313872 | 19 | 6479869:6479913:6479997:6480062:6481689:6481785 | 6479997:6480062 | ENSG00000205744.5 | ENST00000381480.2 |
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 DENND1C |
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 |
ENST00000381480 | 6471275 | 6471316 | Frame-shift |
ENST00000381480 | 6471416 | 6471507 | Frame-shift |
ENST00000381480 | 6475716 | 6475762 | Frame-shift |
ENST00000381480 | 6479997 | 6480062 | Frame-shift |
ENST00000381480 | 6469606 | 6469651 | In-frame |
ENST00000381480 | 6475284 | 6475410 | 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 |
ENST00000381480 | 6471275 | 6471316 | Frame-shift |
ENST00000381480 | 6471416 | 6471507 | Frame-shift |
ENST00000381480 | 6475716 | 6475762 | Frame-shift |
ENST00000381480 | 6479997 | 6480062 | Frame-shift |
ENST00000381480 | 6469606 | 6469651 | In-frame |
ENST00000381480 | 6475284 | 6475410 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DENND1C |
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 |
ENST00000381480 | 2833 | 801 | 6475284 | 6475410 | 1041 | 1166 | 309 | 351 |
ENST00000381480 | 2833 | 801 | 6469606 | 6469651 | 1476 | 1520 | 454 | 469 |
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 |
ENST00000381480 | 2833 | 801 | 6475284 | 6475410 | 1041 | 1166 | 309 | 351 |
ENST00000381480 | 2833 | 801 | 6469606 | 6469651 | 1476 | 1520 | 454 | 469 |
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 |
Q8IV53 | 309 | 351 | 1 | 801 | Chain | ID=PRO_0000304676;Note=DENN domain-containing protein 1C |
Q8IV53 | 309 | 351 | 182 | 318 | Domain | Note=cDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
Q8IV53 | 309 | 351 | 320 | 398 | Domain | Note=dDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
Q8IV53 | 454 | 469 | 1 | 801 | Chain | ID=PRO_0000304676;Note=DENN domain-containing protein 1C |
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 |
Q8IV53 | 309 | 351 | 1 | 801 | Chain | ID=PRO_0000304676;Note=DENN domain-containing protein 1C |
Q8IV53 | 309 | 351 | 182 | 318 | Domain | Note=cDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
Q8IV53 | 309 | 351 | 320 | 398 | Domain | Note=dDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
Q8IV53 | 454 | 469 | 1 | 801 | Chain | ID=PRO_0000304676;Note=DENN domain-containing protein 1C |
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SNVs in the skipped exons for DENND1C |
- 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_313863 | 6475285 | 6475410 | 6475366 | 6475366 | Frame_Shift_Del | G | - | p.P324fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_313863 | 6475285 | 6475410 | 6475374 | 6475374 | Frame_Shift_Del | G | - | p.L322fs |
SKCM | TCGA-W3-AA1V-06 | exon_skip_313859 | 6471276 | 6471316 | 6471308 | 6471308 | Nonsense_Mutation | G | A | p.R420* |
PAAD | TCGA-F2-A8YN-01 | exon_skip_313859 | 6471276 | 6471316 | 6471275 | 6471275 | Splice_Site | C | T | . |
BRCA | TCGA-E2-A15G-01 | exon_skip_313872 | 6479998 | 6480062 | 6480063 | 6480063 | Splice_Site | C | T | e2-1 |
- 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 |
NCIH727_LUNG | 6479870 | 6479913 | 6479906 | 6479906 | Frame_Shift_Del | G | - | p.P30fs |
VMRCRCZ_KIDNEY | 6469607 | 6469651 | 6469613 | 6469613 | Missense_Mutation | C | T | p.M467I |
HEC1_ENDOMETRIUM | 6471417 | 6471507 | 6471469 | 6471469 | Missense_Mutation | C | A | p.E399D |
NCIH716_LARGE_INTESTINE | 6475285 | 6475410 | 6475307 | 6475307 | Missense_Mutation | C | T | p.R344H |
KMBC2_URINARY_TRACT | 6475285 | 6475410 | 6475316 | 6475316 | Missense_Mutation | C | A | p.G341V |
EN_ENDOMETRIUM | 6475285 | 6475410 | 6475350 | 6475350 | Missense_Mutation | G | A | p.R330C |
MCF7_BREAST | 6475285 | 6475410 | 6475397 | 6475397 | Missense_Mutation | C | G | p.R314T |
CW2_LARGE_INTESTINE | 6479870 | 6479913 | 6479892 | 6479892 | Missense_Mutation | A | T | p.F35Y |
SNU601_STOMACH | 6479870 | 6479913 | 6479907 | 6479907 | Missense_Mutation | G | T | p.P30H |
HEC251_ENDOMETRIUM | 6471276 | 6471316 | 6471308 | 6471308 | Nonsense_Mutation | G | A | p.R420* |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6475717 | 6475762 | 6475761 | 6475761 | Splice_Site | C | T | p.A261T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DENND1C |
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 DENND1C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DENND1C |
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RelatedDrugs for DENND1C |
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 DENND1C |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |