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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 DCBLD1 |
 Gene summary |
| Gene information | Gene symbol | DCBLD1 | Gene ID | 285761 |
| Gene name | discoidin, CUB and LCCL domain containing 1 | |
| Synonyms | dJ94G16.1 | |
| Cytomap | 6q22.1 | |
| Type of gene | protein-coding | |
| Description | discoidin, CUB and LCCL domain-containing protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N8Z6 | |
| Context | PubMed: DCBLD1 [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 DCBLD1 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 DCBLD1 |
| 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 DCBLD1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_453915 | 6 | 117803824:117804056:117806112:117806203:117824929:117825062 | 117806112:117806203 | ENSG00000164465.14 | ENST00000528162.1 |
| exon_skip_453917 | 6 | 117824946:117825142:117840978:117841113:117842687:117842739 | 117840978:117841113 | ENSG00000164465.14 | ENST00000296955.8,ENST00000338728.5,ENST00000533453.1,ENST00000368503.4 |
| exon_skip_453919 | 6 | 117842687:117842739:117846524:117846597:117853422:117853556 | 117846524:117846597 | ENSG00000164465.14 | ENST00000296955.8,ENST00000338728.5,ENST00000368503.4 |
| exon_skip_453922 | 6 | 117842687:117842739:117853422:117853556:117858347:117858388 | 117853422:117853556 | ENSG00000164465.14 | ENST00000533453.1 |
| exon_skip_453925 | 6 | 117846524:117846597:117853422:117853556:117858347:117858388 | 117853422:117853556 | ENSG00000164465.14 | ENST00000296955.8,ENST00000338728.5,ENST00000368503.4 |
| exon_skip_453928 | 6 | 117853422:117853556:117858347:117858388:117859782:117859998 | 117858347:117858388 | ENSG00000164465.14 | ENST00000296955.8,ENST00000338728.5,ENST00000533453.1 |
| exon_skip_453929 | 6 | 117860471:117860542:117861830:117861978:117862080:117862188 | 117861830:117861978 | ENSG00000164465.14 | ENST00000534777.1,ENST00000296955.8,ENST00000338728.5 |
| exon_skip_453931 | 6 | 117862080:117862188:117864286:117864374:117865690:117865740 | 117864286:117864374 | ENSG00000164465.14 | ENST00000296955.8,ENST00000338728.5,ENST00000533453.1,ENST00000424717.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DCBLD1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_453915 | 6 | 117803824:117804056:117806112:117806203:117824929:117825062 | 117806112:117806203 | ENSG00000164465.14 | ENST00000528162.1 |
| exon_skip_453917 | 6 | 117824946:117825142:117840978:117841113:117842687:117842739 | 117840978:117841113 | ENSG00000164465.14 | ENST00000296955.8,ENST00000368503.4,ENST00000338728.5,ENST00000533453.1 |
| exon_skip_453919 | 6 | 117842687:117842739:117846524:117846597:117853422:117853556 | 117846524:117846597 | ENSG00000164465.14 | ENST00000296955.8,ENST00000368503.4,ENST00000338728.5 |
| exon_skip_453922 | 6 | 117842687:117842739:117853422:117853556:117858347:117858388 | 117853422:117853556 | ENSG00000164465.14 | ENST00000533453.1 |
| exon_skip_453925 | 6 | 117846524:117846597:117853422:117853556:117858347:117858388 | 117853422:117853556 | ENSG00000164465.14 | ENST00000296955.8,ENST00000368503.4,ENST00000338728.5 |
| exon_skip_453928 | 6 | 117853422:117853556:117858347:117858388:117859782:117859998 | 117858347:117858388 | ENSG00000164465.14 | ENST00000296955.8,ENST00000338728.5,ENST00000533453.1 |
| exon_skip_453929 | 6 | 117860471:117860542:117861830:117861978:117862080:117862188 | 117861830:117861978 | ENSG00000164465.14 | ENST00000296955.8,ENST00000338728.5,ENST00000534777.1 |
| exon_skip_453931 | 6 | 117862080:117862188:117864286:117864374:117865690:117865740 | 117864286:117864374 | ENSG00000164465.14 | ENST00000296955.8,ENST00000338728.5,ENST00000533453.1,ENST00000424717.2 |
| 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 DCBLD1 |
| 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 |
| ENST00000338728 | 117846524 | 117846597 | Frame-shift |
| ENST00000338728 | 117853422 | 117853556 | Frame-shift |
| ENST00000338728 | 117858347 | 117858388 | Frame-shift |
| ENST00000338728 | 117861830 | 117861978 | Frame-shift |
| ENST00000338728 | 117864286 | 117864374 | Frame-shift |
| ENST00000338728 | 117840978 | 117841113 | 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 |
| ENST00000338728 | 117846524 | 117846597 | Frame-shift |
| ENST00000338728 | 117853422 | 117853556 | Frame-shift |
| ENST00000338728 | 117858347 | 117858388 | Frame-shift |
| ENST00000338728 | 117861830 | 117861978 | Frame-shift |
| ENST00000338728 | 117864286 | 117864374 | Frame-shift |
| ENST00000338728 | 117840978 | 117841113 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DCBLD1 |
| 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 |
| ENST00000338728 | 3643 | 715 | 117840978 | 117841113 | 446 | 580 | 108 | 153 |
| 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 |
| ENST00000338728 | 3643 | 715 | 117840978 | 117841113 | 446 | 580 | 108 | 153 |
| 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 |
| Q8N8Z6 | 108 | 153 | 35 | 715 | Chain | ID=PRO_0000021076;Note=Discoidin%2C CUB and LCCL domain-containing protein 1 |
| Q8N8Z6 | 108 | 153 | 94 | 112 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8N8Z6 | 108 | 153 | 41 | 150 | Domain | Note=CUB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00059 |
| Q8N8Z6 | 108 | 153 | 152 | 248 | Domain | Note=LCCL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00123 |
| Q8N8Z6 | 108 | 153 | 124 | 124 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N8Z6 | 108 | 153 | 35 | 459 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q8N8Z6 | 108 | 153 | 35 | 715 | Chain | ID=PRO_0000021076;Note=Discoidin%2C CUB and LCCL domain-containing protein 1 |
| Q8N8Z6 | 108 | 153 | 94 | 112 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8N8Z6 | 108 | 153 | 41 | 150 | Domain | Note=CUB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00059 |
| Q8N8Z6 | 108 | 153 | 152 | 248 | Domain | Note=LCCL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00123 |
| Q8N8Z6 | 108 | 153 | 124 | 124 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N8Z6 | 108 | 153 | 35 | 459 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for DCBLD1 |
| - 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. |
| - 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-DD-A1EG-01 | exon_skip_453917 | 117840979 | 117841113 | 117841005 | 117841005 | Frame_Shift_Del | C | - | p.P118fs |
| ESCA | TCGA-L5-A8NI-01 | exon_skip_453917 | 117840979 | 117841113 | 117841079 | 117841079 | Frame_Shift_Del | T | - | p.G142fs |
| ESCA | TCGA-L5-A8NI-01 | exon_skip_453917 | 117840979 | 117841113 | 117841079 | 117841079 | Frame_Shift_Del | T | - | p.L144fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_453929 | 117861831 | 117861978 | 117861839 | 117861839 | Frame_Shift_Del | G | - | p.Q370fs |
| STAD | TCGA-CD-8529-01 | exon_skip_453929 | 117861831 | 117861978 | 117861962 | 117861962 | Frame_Shift_Del | T | - | p.G411fs |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_453917 | 117840979 | 117841113 | 117841011 | 117841011 | Nonsense_Mutation | G | T | p.E120* |
| HNSC | TCGA-D6-A74Q-01 | exon_skip_453919 | 117846525 | 117846597 | 117846586 | 117846586 | Nonsense_Mutation | G | T | p.G192* |
| LUAD | TCGA-93-8067-01 | exon_skip_453929 | 117861831 | 117861978 | 117861837 | 117861837 | Nonsense_Mutation | C | T | p.Q370* |
| COAD | TCGA-AA-3697-01 | exon_skip_453917 | 117840979 | 117841113 | 117840978 | 117840978 | Splice_Site | G | A | . |
| LUSC | TCGA-33-4566-01 | exon_skip_453928 | 117858348 | 117858388 | 117858346 | 117858346 | Splice_Site | A | T | p.D240_splice |
| - 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 |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117840979 | 117841113 | 117841079 | 117841079 | Frame_Shift_Del | T | - | p.G142fs |
| COV434_OVARY | 117840979 | 117841113 | 117841045 | 117841045 | Missense_Mutation | G | A | p.R131H |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117840979 | 117841113 | 117841071 | 117841071 | Missense_Mutation | G | T | p.G140C |
| HS939T_SKIN | 117840979 | 117841113 | 117841096 | 117841096 | Missense_Mutation | C | T | p.A148V |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117846525 | 117846597 | 117846547 | 117846547 | Missense_Mutation | A | G | p.R179G |
| SNU1040_LARGE_INTESTINE | 117853423 | 117853556 | 117853499 | 117853499 | Missense_Mutation | A | G | p.Q221R |
| SNU1040_LARGE_INTESTINE | 117853423 | 117853556 | 117853517 | 117853517 | Missense_Mutation | G | A | p.R227Q |
| HEC251_ENDOMETRIUM | 117858348 | 117858388 | 117858368 | 117858368 | Missense_Mutation | G | A | p.R247Q |
| SKMEL31_SKIN | 117861831 | 117861978 | 117861940 | 117861940 | Missense_Mutation | C | T | p.A404V |
| CW2_LARGE_INTESTINE | 117864287 | 117864374 | 117864334 | 117864334 | Missense_Mutation | C | A | p.L469M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DCBLD1 |
| 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 DCBLD1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DCBLD1 |
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RelatedDrugs for DCBLD1 |
| 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 DCBLD1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DCBLD1 | C0025202 | melanoma | 1 | CTD_human |
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