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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for DENND4C |
 Gene summary |
| Gene information | Gene symbol | DENND4C | Gene ID | 55667 |
| Gene name | DENN domain containing 4C | |
| Synonyms | C9orf55|C9orf55B|RAB10GEF|bA513M16.3 | |
| Cytomap | 9p22.1 | |
| Type of gene | protein-coding | |
| Description | DENN domain-containing protein 4CDENN/MADD domain containing 4A pseudogeneDENN/MADD domain containing 4C | |
| Modification date | 20180519 | |
| UniProtAcc | Q5VZ89 | |
| Context | PubMed: DENND4C [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 DENND4C 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 DENND4C |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for DENND4C |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495200 | 9 | 19290755:19290874:19296005:19296244:19298053:19298120 | 19296005:19296244 | ENSG00000137145.16 | ENST00000380437.4,ENST00000434457.2,ENST00000494124.2,ENST00000380432.2,ENST00000602925.1 |
| exon_skip_495201 | 9 | 19299226:19299285:19300184:19300329:19305349:19305525 | 19300184:19300329 | ENSG00000137145.16 | ENST00000380437.4,ENST00000434457.2,ENST00000494124.2,ENST00000380432.2,ENST00000602925.1 |
| exon_skip_495202 | 9 | 19300184:19300329:19305349:19305525:19316414:19316515 | 19305349:19305525 | ENSG00000137145.16 | ENST00000380437.4,ENST00000434457.2,ENST00000494124.2,ENST00000380432.2,ENST00000602925.1 |
| exon_skip_495206 | 9 | 19316618:19316837:19324359:19324505:19325936:19325972 | 19324359:19324505 | ENSG00000137145.16 | ENST00000380437.4,ENST00000434457.2,ENST00000380432.2,ENST00000602925.1 |
| exon_skip_495208 | 9 | 19325936:19325972:19326061:19326192:19328027:19328160 | 19326061:19326192 | ENSG00000137145.16 | ENST00000380437.4,ENST00000434457.2,ENST00000494124.2,ENST00000380432.2,ENST00000602925.1 |
| exon_skip_495209 | 9 | 19326061:19326192:19328027:19328160:19331975:19332182 | 19328027:19328160 | ENSG00000137145.16 | ENST00000380437.4,ENST00000434457.2,ENST00000380432.2,ENST00000602925.1 |
| exon_skip_495210 | 9 | 19328027:19328160:19331975:19332182:19334974:19335103 | 19331975:19332182 | ENSG00000137145.16 | ENST00000434457.2,ENST00000380432.2,ENST00000602925.1 |
| exon_skip_495215 | 9 | 19336267:19336412:19336683:19336830:19337598:19337670 | 19336683:19336830 | ENSG00000137145.16 | ENST00000494124.2 |
| exon_skip_495216 | 9 | 19336267:19336412:19336683:19336830:19340989:19341042 | 19336683:19336830 | ENSG00000137145.16 | ENST00000434457.2 |
| exon_skip_495221 | 9 | 19336701:19336830:19337598:19337670:19340989:19341042 | 19337598:19337670 | ENSG00000137145.16 | ENST00000380437.4,ENST00000494124.2 |
| exon_skip_495222 | 9 | 19346725:19347084:19350699:19350877:19352070:19352180 | 19350699:19350877 | ENSG00000137145.16 | ENST00000361024.2,ENST00000380437.4,ENST00000434457.2,ENST00000494124.2,ENST00000380432.2,ENST00000602925.1,ENST00000380424.1,ENST00000380427.1 |
| exon_skip_495226 | 9 | 19352070:19352180:19352487:19352663:19356969:19357152 | 19352487:19352663 | ENSG00000137145.16 | ENST00000361024.2,ENST00000380437.4,ENST00000434457.2,ENST00000494124.2,ENST00000380432.2,ENST00000602925.1,ENST00000380424.1,ENST00000380427.1 |
| exon_skip_495230 | 9 | 19356969:19357152:19357962:19358158:19360241:19360487 | 19357962:19358158 | ENSG00000137145.16 | ENST00000361024.2,ENST00000380437.4,ENST00000434457.2,ENST00000494124.2,ENST00000380432.2,ENST00000602925.1,ENST00000380427.1 |
| exon_skip_495235 | 9 | 19357962:19358158:19360241:19360487:19361843:19361961 | 19360241:19360487 | ENSG00000137145.16 | ENST00000361024.2,ENST00000380437.4,ENST00000434457.2,ENST00000494124.2,ENST00000380432.2,ENST00000602925.1,ENST00000380427.1 |
| exon_skip_495239 | 9 | 19360241:19360487:19361843:19361961:19369834:19369985 | 19361843:19361961 | ENSG00000137145.16 | ENST00000361024.2,ENST00000380437.4,ENST00000434457.2,ENST00000494124.2,ENST00000380432.2,ENST00000602925.1,ENST00000380427.1 |
| exon_skip_495240 | 9 | 19361843:19361961:19369834:19369985:19371753:19371818 | 19369834:19369985 | ENSG00000137145.16 | ENST00000361024.2,ENST00000380437.4,ENST00000434457.2,ENST00000494124.2,ENST00000380432.2,ENST00000602925.1 |
| exon_skip_495241 | 9 | 19361843:19361961:19369834:19369985:19372034:19372592 | 19369834:19369985 | ENSG00000137145.16 | ENST00000380427.1 |
| exon_skip_495244 | 9 | 19369834:19369985:19371753:19371818:19372034:19372592 | 19371753:19371818 | ENSG00000137145.16 | ENST00000361024.2,ENST00000380437.4,ENST00000434457.2,ENST00000494124.2,ENST00000380432.2,ENST00000602925.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DENND4C |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495200 | 9 | 19290755:19290874:19296005:19296244:19298053:19298120 | 19296005:19296244 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4,ENST00000494124.2 |
| exon_skip_495201 | 9 | 19299226:19299285:19300184:19300329:19305349:19305525 | 19300184:19300329 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4,ENST00000494124.2 |
| exon_skip_495202 | 9 | 19300184:19300329:19305349:19305525:19316414:19316515 | 19305349:19305525 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4,ENST00000494124.2 |
| exon_skip_495206 | 9 | 19316618:19316837:19324359:19324505:19325936:19325972 | 19324359:19324505 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4 |
| exon_skip_495208 | 9 | 19325936:19325972:19326061:19326192:19328027:19328160 | 19326061:19326192 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4,ENST00000494124.2 |
| exon_skip_495209 | 9 | 19326061:19326192:19328027:19328160:19331975:19332182 | 19328027:19328160 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4 |
| exon_skip_495210 | 9 | 19328027:19328160:19331975:19332182:19334974:19335103 | 19331975:19332182 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2 |
| exon_skip_495211 | 9 | 19328027:19328160:19331975:19332186:19334974:19335103 | 19331975:19332186 | ENSG00000137145.16 | ENST00000380437.4 |
| exon_skip_495215 | 9 | 19336267:19336412:19336683:19336830:19337598:19337670 | 19336683:19336830 | ENSG00000137145.16 | ENST00000494124.2 |
| exon_skip_495216 | 9 | 19336267:19336412:19336683:19336830:19340989:19341042 | 19336683:19336830 | ENSG00000137145.16 | ENST00000434457.2 |
| exon_skip_495221 | 9 | 19336701:19336830:19337598:19337670:19340989:19341042 | 19337598:19337670 | ENSG00000137145.16 | ENST00000380437.4,ENST00000494124.2 |
| exon_skip_495222 | 9 | 19346725:19347084:19350699:19350877:19352070:19352180 | 19350699:19350877 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4,ENST00000494124.2,ENST00000380427.1,ENST00000361024.2,ENST00000380424.1 |
| exon_skip_495226 | 9 | 19352070:19352180:19352487:19352663:19356969:19357152 | 19352487:19352663 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4,ENST00000494124.2,ENST00000380427.1,ENST00000361024.2,ENST00000380424.1 |
| exon_skip_495230 | 9 | 19356969:19357152:19357962:19358158:19360241:19360487 | 19357962:19358158 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4,ENST00000494124.2,ENST00000380427.1,ENST00000361024.2 |
| exon_skip_495235 | 9 | 19357962:19358158:19360241:19360487:19361843:19361961 | 19360241:19360487 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4,ENST00000494124.2,ENST00000380427.1,ENST00000361024.2 |
| exon_skip_495239 | 9 | 19360241:19360487:19361843:19361961:19369834:19369985 | 19361843:19361961 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4,ENST00000494124.2,ENST00000380427.1,ENST00000361024.2 |
| exon_skip_495240 | 9 | 19361843:19361961:19369834:19369985:19371753:19371818 | 19369834:19369985 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4,ENST00000494124.2,ENST00000361024.2 |
| exon_skip_495241 | 9 | 19361843:19361961:19369834:19369985:19372034:19372592 | 19369834:19369985 | ENSG00000137145.16 | ENST00000380427.1 |
| exon_skip_495244 | 9 | 19369834:19369985:19371753:19371818:19372034:19372592 | 19371753:19371818 | ENSG00000137145.16 | ENST00000434457.2,ENST00000602925.1,ENST00000380432.2,ENST00000380437.4,ENST00000494124.2,ENST00000361024.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for DENND4C |
| 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 |
| ENST00000602925 | 19296005 | 19296244 | Frame-shift |
| ENST00000602925 | 19300184 | 19300329 | Frame-shift |
| ENST00000602925 | 19305349 | 19305525 | Frame-shift |
| ENST00000602925 | 19324359 | 19324505 | Frame-shift |
| ENST00000602925 | 19326061 | 19326192 | Frame-shift |
| ENST00000602925 | 19328027 | 19328160 | Frame-shift |
| ENST00000602925 | 19350699 | 19350877 | Frame-shift |
| ENST00000602925 | 19352487 | 19352663 | Frame-shift |
| ENST00000602925 | 19357962 | 19358158 | Frame-shift |
| ENST00000602925 | 19361843 | 19361961 | Frame-shift |
| ENST00000602925 | 19369834 | 19369985 | Frame-shift |
| ENST00000602925 | 19371753 | 19371818 | Frame-shift |
| ENST00000602925 | 19331975 | 19332182 | In-frame |
| ENST00000602925 | 19360241 | 19360487 | 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 |
| ENST00000602925 | 19296005 | 19296244 | Frame-shift |
| ENST00000602925 | 19300184 | 19300329 | Frame-shift |
| ENST00000602925 | 19305349 | 19305525 | Frame-shift |
| ENST00000602925 | 19324359 | 19324505 | Frame-shift |
| ENST00000602925 | 19326061 | 19326192 | Frame-shift |
| ENST00000602925 | 19328027 | 19328160 | Frame-shift |
| ENST00000602925 | 19350699 | 19350877 | Frame-shift |
| ENST00000602925 | 19352487 | 19352663 | Frame-shift |
| ENST00000602925 | 19357962 | 19358158 | Frame-shift |
| ENST00000602925 | 19361843 | 19361961 | Frame-shift |
| ENST00000602925 | 19369834 | 19369985 | Frame-shift |
| ENST00000602925 | 19371753 | 19371818 | Frame-shift |
| ENST00000602925 | 19331975 | 19332182 | In-frame |
| ENST00000602925 | 19360241 | 19360487 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DENND4C |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000602925 | 6848 | 1909 | 19331975 | 19332182 | 2670 | 2876 | 751 | 820 |
| ENST00000602925 | 6848 | 1909 | 19360241 | 19360487 | 5430 | 5675 | 1671 | 1753 |
| 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 |
| ENST00000602925 | 6848 | 1909 | 19331975 | 19332182 | 2670 | 2876 | 751 | 820 |
| ENST00000602925 | 6848 | 1909 | 19360241 | 19360487 | 5430 | 5675 | 1671 | 1753 |
| 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 DENND4C |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
DENND4C_KIRC_exon_skip_495200_psi_boxplot.png |
DENND4C_STAD_exon_skip_495200_psi_boxplot.png |
| - 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 |
| KIRC | TCGA-B2-3924-01 | exon_skip_495200 | 19296006 | 19296244 | 19296164 | 19296164 | Frame_Shift_Del | T | - | p.P320fs |
| STAD | TCGA-BR-6452-01 | exon_skip_495200 | 19296006 | 19296244 | 19296164 | 19296164 | Frame_Shift_Del | T | - | p.P320fs |
| STAD | TCGA-BR-6452-01 | exon_skip_495200 | 19296006 | 19296244 | 19296164 | 19296164 | Frame_Shift_Del | T | - | p.P84fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_495202 | 19305350 | 19305525 | 19305386 | 19305386 | Frame_Shift_Del | C | - | p.P214fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_495202 | 19305350 | 19305525 | 19305449 | 19305449 | Frame_Shift_Del | G | - | p.D235fs |
| KIRC | TCGA-CJ-5683-01 | exon_skip_495202 | 19305350 | 19305525 | 19305459 | 19305459 | Frame_Shift_Del | A | - | p.Y474fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_495206 | 19324360 | 19324505 | 19324482 | 19324482 | Frame_Shift_Del | T | - | p.F409fs |
| STAD | TCGA-HU-A4G9-01 | exon_skip_495206 | 19324360 | 19324505 | 19324482 | 19324482 | Frame_Shift_Del | T | - | p.A643fs |
| STAD | TCGA-HU-A4G9-01 | exon_skip_495206 | 19324360 | 19324505 | 19324482 | 19324482 | Frame_Shift_Del | T | - | p.F408fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_495210 | 19331976 | 19332182 | 19332062 | 19332062 | Frame_Shift_Del | T | - | p.S544fs |
| COAD | TCGA-AY-6197-01 | exon_skip_495230 | 19357963 | 19358158 | 19358093 | 19358094 | Frame_Shift_Del | TT | - | p.1413_1414del |
| COAD | TCGA-D5-6927-01 | exon_skip_495235 | 19360242 | 19360487 | 19360253 | 19360253 | Frame_Shift_Del | A | - | p.G1439fs |
| LGG | TCGA-E1-5307-01 | exon_skip_495235 | 19360242 | 19360487 | 19360274 | 19360274 | Frame_Shift_Del | T | - | p.P1682fs |
| LGG | TCGA-E1-5307-01 | exon_skip_495235 | 19360242 | 19360487 | 19360274 | 19360274 | Frame_Shift_Del | T | - | p.P919fs |
| BRCA | TCGA-A2-A0YD-01 | exon_skip_495239 | 19361844 | 19361961 | 19361904 | 19361904 | Frame_Shift_Del | A | - | p.N1538fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_495240 exon_skip_495241 | 19369835 | 19369985 | 19369841 | 19369841 | Frame_Shift_Del | A | - | p.E1032fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_495244 | 19371754 | 19371818 | 19371779 | 19371779 | Frame_Shift_Del | T | - | p.L1089fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_495200 | 19296006 | 19296244 | 19296163 | 19296164 | Frame_Shift_Ins | - | T | p.L84fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_495200 | 19296006 | 19296244 | 19296163 | 19296164 | Frame_Shift_Ins | - | T | p.L84fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_495200 | 19296006 | 19296244 | 19296163 | 19296164 | Frame_Shift_Ins | - | T | p.P320fs |
| LUAD | TCGA-55-6972-01 | exon_skip_495200 | 19296006 | 19296244 | 19296154 | 19296154 | Nonsense_Mutation | C | G | p.S81* |
| ACC | TCGA-OR-A5JB-01 | exon_skip_495201 | 19300185 | 19300329 | 19300261 | 19300261 | Nonsense_Mutation | G | T | p.E179* |
| ACC | TCGA-OR-A5JB-01 | exon_skip_495201 | 19300185 | 19300329 | 19300261 | 19300261 | Nonsense_Mutation | G | T | p.E415X |
| PAAD | TCGA-2J-AABU-01 | exon_skip_495202 | 19305350 | 19305525 | 19305370 | 19305370 | Nonsense_Mutation | G | A | p.W208* |
| ESCA | TCGA-L5-A891-01 | exon_skip_495226 | 19352488 | 19352663 | 19352542 | 19352542 | Nonsense_Mutation | G | T | p.E1505* |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_495230 | 19357963 | 19358158 | 19358036 | 19358036 | Nonsense_Mutation | C | T | p.R868* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_495230 | 19357963 | 19358158 | 19358036 | 19358036 | Nonsense_Mutation | C | T | p.R1395* |
| COAD | TCGA-G4-6588-01 | exon_skip_495230 | 19357963 | 19358158 | 19358081 | 19358081 | Nonsense_Mutation | C | T | p.Q1410X |
| ESCA | TCGA-VR-A8EQ-01 | exon_skip_495206 | 19324360 | 19324505 | 19324506 | 19324506 | Splice_Site | G | T | . |
| ESCA | TCGA-VR-A8EQ-01 | exon_skip_495206 | 19324360 | 19324505 | 19324506 | 19324506 | Splice_Site | G | T | e12+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-6452-01 |
| Cancer type: STAD | |
| ESID: exon_skip_495200 | |
| Skipped exon start: 19296006 | |
| Skipped exon end: 19296244 | |
| Mutation start: 19296164 | |
| Mutation end: 19296164 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.P320fs | |
| Sample: TCGA-BR-6452-01 |
| Cancer type: STAD | |
| ESID: exon_skip_495200 | |
| Skipped exon start: 19296006 | |
| Skipped exon end: 19296244 | |
| Mutation start: 19296164 | |
| Mutation end: 19296164 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.P84fs | |
exon_skip_106795_STAD_TCGA-BR-6452-01.png | |
exon_skip_108765_STAD_TCGA-BR-6452-01.png | |
exon_skip_108766_STAD_TCGA-BR-6452-01.png | |
exon_skip_121160_STAD_TCGA-BR-6452-01.png | |
exon_skip_23930_STAD_TCGA-BR-6452-01.png | |
exon_skip_285856_STAD_TCGA-BR-6452-01.png | |
exon_skip_287166_STAD_TCGA-BR-6452-01.png | |
exon_skip_289814_STAD_TCGA-BR-6452-01.png | |
exon_skip_294522_STAD_TCGA-BR-6452-01.png | |
exon_skip_306852_STAD_TCGA-BR-6452-01.png | |
exon_skip_32096_STAD_TCGA-BR-6452-01.png | |
exon_skip_323984_STAD_TCGA-BR-6452-01.png | |
exon_skip_328488_STAD_TCGA-BR-6452-01.png | |
exon_skip_346425_STAD_TCGA-BR-6452-01.png | |
exon_skip_346426_STAD_TCGA-BR-6452-01.png | |
exon_skip_346508_STAD_TCGA-BR-6452-01.png | |
exon_skip_363933_STAD_TCGA-BR-6452-01.png | |
exon_skip_36702_STAD_TCGA-BR-6452-01.png | |
exon_skip_374468_STAD_TCGA-BR-6452-01.png | |
exon_skip_374469_STAD_TCGA-BR-6452-01.png | |
exon_skip_3814_STAD_TCGA-BR-6452-01.png | |
exon_skip_3815_STAD_TCGA-BR-6452-01.png | |
exon_skip_38648_STAD_TCGA-BR-6452-01.png | |
exon_skip_42656_STAD_TCGA-BR-6452-01.png | |
exon_skip_434406_STAD_TCGA-BR-6452-01.png | |
exon_skip_450406_STAD_TCGA-BR-6452-01.png | |
exon_skip_489149_STAD_TCGA-BR-6452-01.png | |
exon_skip_495200_STAD_TCGA-BR-6452-01.png | |
exon_skip_496317_STAD_TCGA-BR-6452-01.png | |
exon_skip_503611_STAD_TCGA-BR-6452-01.png | |
exon_skip_515792_STAD_TCGA-BR-6452-01.png | |
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| - 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 |
| SNU175_LARGE_INTESTINE | 19296006 | 19296244 | 19296164 | 19296164 | Frame_Shift_Del | T | - | p.P84fs |
| P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19305350 | 19305525 | 19305517 | 19305520 | Frame_Shift_Del | GTTA | - | p.ML257fs |
| TT2609C02_THYROID | 19352488 | 19352663 | 19352636 | 19352636 | Frame_Shift_Del | A | - | p.E1300fs |
| IM95_STOMACH | 19296006 | 19296244 | 19296163 | 19296164 | Frame_Shift_Ins | - | T | p.PF84fs |
| SW48_LARGE_INTESTINE | 19296006 | 19296244 | 19296163 | 19296164 | Frame_Shift_Ins | - | T | p.PF84fs |
| EN_ENDOMETRIUM | 19296006 | 19296244 | 19296163 | 19296164 | Frame_Shift_Ins | - | TT | p.PF84fs |
| FTC238_THYROID | 19296006 | 19296244 | 19296112 | 19296112 | Missense_Mutation | T | C | p.V67A |
| LS411N_LARGE_INTESTINE | 19296006 | 19296244 | 19296181 | 19296181 | Missense_Mutation | G | A | p.R90K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 19296006 | 19296244 | 19296207 | 19296207 | Missense_Mutation | C | G | p.L99V |
| KMH2_THYROID | 19300185 | 19300329 | 19300194 | 19300194 | Missense_Mutation | C | G | p.N156K |
| SNU81_LARGE_INTESTINE | 19300185 | 19300329 | 19300212 | 19300212 | Missense_Mutation | G | T | p.M162I |
| LOVO_LARGE_INTESTINE | 19305350 | 19305525 | 19305389 | 19305389 | Missense_Mutation | C | A | p.L215I |
| HS695T_SKIN | 19305350 | 19305525 | 19305441 | 19305441 | Missense_Mutation | T | C | p.V232A |
| EN_ENDOMETRIUM | 19305350 | 19305525 | 19305497 | 19305497 | Missense_Mutation | A | G | p.I251V |
| KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19305350 | 19305525 | 19305497 | 19305497 | Missense_Mutation | A | G | p.I251V |
| MDAMB134VI_BREAST | 19305350 | 19305525 | 19305502 | 19305502 | Missense_Mutation | C | G | p.D252E |
| RERFLCKJ_LUNG | 19305350 | 19305525 | 19305506 | 19305506 | Missense_Mutation | G | T | p.D254Y |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19305350 | 19305525 | 19305510 | 19305510 | Missense_Mutation | C | T | p.T255M |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19324360 | 19324505 | 19324381 | 19324381 | Missense_Mutation | G | A | p.R374H |
| MCC13_SKIN | 19324360 | 19324505 | 19324411 | 19324411 | Missense_Mutation | C | T | p.S384F |
| SNGM_ENDOMETRIUM | 19326062 | 19326192 | 19326128 | 19326128 | Missense_Mutation | A | G | p.T450A |
| NCIH748_LUNG | 19328028 | 19328160 | 19328110 | 19328110 | Missense_Mutation | G | T | p.G499W |
| LS180_LARGE_INTESTINE | 19328028 | 19328160 | 19328118 | 19328118 | Missense_Mutation | C | A | p.S501R |
| BE2M17_AUTONOMIC_GANGLIA | 19328028 | 19328160 | 19328140 | 19328140 | Missense_Mutation | A | G | p.M509V |
| SKNBE2_AUTONOMIC_GANGLIA | 19328028 | 19328160 | 19328140 | 19328140 | Missense_Mutation | A | G | p.M509V |
| JHUEM7_ENDOMETRIUM | 19331976 | 19332182 | 19332018 | 19332018 | Missense_Mutation | A | C | p.N530H |
| NCIH2869_PLEURA | 19350700 | 19350877 | 19350808 | 19350808 | Missense_Mutation | A | G | p.T1191A |
| KYSE270_OESOPHAGUS | 19350700 | 19350877 | 19350813 | 19350813 | Missense_Mutation | G | C | p.Q1192H |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19350700 | 19350877 | 19350865 | 19350865 | Missense_Mutation | C | T | p.H1210Y |
| MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19352488 | 19352663 | 19352533 | 19352533 | Missense_Mutation | G | A | p.V1266I |
| 22RV1_PROSTATE | 19357963 | 19358158 | 19358015 | 19358015 | Missense_Mutation | G | A | p.V1388M |
| SNU81_LARGE_INTESTINE | 19357963 | 19358158 | 19358037 | 19358037 | Missense_Mutation | G | A | p.R1395Q |
| NCIH835_LUNG | 19357963 | 19358158 | 19358043 | 19358043 | Missense_Mutation | T | C | p.V1397A |
| HTCC3_THYROID | 19357963 | 19358158 | 19358144 | 19358144 | Missense_Mutation | C | G | p.L1431V |
| TTC466_BONE | 19360242 | 19360487 | 19360341 | 19360341 | Missense_Mutation | G | A | p.G1469S |
| NCIH2286_LUNG | 19360242 | 19360487 | 19360417 | 19360417 | Missense_Mutation | G | A | p.R1494K |
| RERFLCSQ1_LUNG | 19371754 | 19371818 | 19371797 | 19371797 | Missense_Mutation | G | A | p.G1622R |
| SNGM_ENDOMETRIUM | 19357963 | 19358158 | 19358081 | 19358081 | Nonsense_Mutation | C | T | p.Q1410* |
| SCH_STOMACH | 19360242 | 19360487 | 19360397 | 19360397 | Nonsense_Mutation | G | A | p.W1487* |
| JHUEM7_ENDOMETRIUM | 19331976 | 19332182 | 19331977 | 19331977 | Splice_Site | A | T | p.E516V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DENND4C |
| 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 DENND4C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DENND4C |
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RelatedDrugs for DENND4C |
| 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 DENND4C |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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