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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 CDAN1 |
 Gene summary |
| Gene information | Gene symbol | CDAN1 | Gene ID | 146059 |
| Gene name | codanin 1 | |
| Synonyms | CDA1|CDAI|CDAN1A|DLT|PRO1295 | |
| Cytomap | 15q15.2 | |
| Type of gene | protein-coding | |
| Description | codanin-1congenital dyserythropoietic anemia, type Idiscs lost homolog | |
| Modification date | 20180522 | |
| UniProtAcc | Q8IWY9 | |
| Context | PubMed: CDAN1 [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 CDAN1 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 CDAN1 |
| 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 CDAN1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126406 | 15 | 43017686:43017868:43018294:43018358:43018507:43018615 | 43018294:43018358 | ENSG00000140326.8 | ENST00000356231.3,ENST00000562465.1 |
| exon_skip_126407 | 15 | 43018507:43018615:43019818:43019967:43020152:43020231 | 43019818:43019967 | ENSG00000140326.8 | ENST00000356231.3 |
| exon_skip_126408 | 15 | 43018507:43018615:43019865:43019967:43020152:43020231 | 43019865:43019967 | ENSG00000140326.8 | ENST00000562465.1 |
| exon_skip_126409 | 15 | 43020401:43020465:43020849:43021008:43021220:43021324 | 43020849:43021008 | ENSG00000140326.8 | ENST00000356231.3,ENST00000562465.1 |
| exon_skip_126410 | 15 | 43023408:43023529:43023817:43024023:43024530:43024606 | 43023817:43024023 | ENSG00000140326.8 | ENST00000356231.3 |
| exon_skip_126412 | 15 | 43024530:43024606:43025294:43025384:43026135:43026245 | 43025294:43025384 | ENSG00000140326.8 | ENST00000356231.3 |
| exon_skip_126414 | 15 | 43026135:43026245:43026423:43026544:43027297:43027376 | 43026423:43026544 | ENSG00000140326.8 | ENST00000356231.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CDAN1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126406 | 15 | 43017686:43017868:43018294:43018358:43018507:43018615 | 43018294:43018358 | ENSG00000140326.8 | ENST00000562465.1,ENST00000356231.3 |
| exon_skip_126407 | 15 | 43018507:43018615:43019818:43019967:43020152:43020231 | 43019818:43019967 | ENSG00000140326.8 | ENST00000356231.3 |
| exon_skip_126408 | 15 | 43018507:43018615:43019865:43019967:43020152:43020231 | 43019865:43019967 | ENSG00000140326.8 | ENST00000562465.1 |
| exon_skip_126409 | 15 | 43020401:43020465:43020849:43021008:43021220:43021324 | 43020849:43021008 | ENSG00000140326.8 | ENST00000562465.1,ENST00000356231.3 |
| exon_skip_126410 | 15 | 43023408:43023529:43023817:43024023:43024530:43024606 | 43023817:43024023 | ENSG00000140326.8 | ENST00000356231.3 |
| exon_skip_126412 | 15 | 43024530:43024606:43025294:43025384:43026135:43026245 | 43025294:43025384 | ENSG00000140326.8 | ENST00000356231.3 |
| exon_skip_126414 | 15 | 43026135:43026245:43026423:43026544:43027297:43027376 | 43026423:43026544 | ENSG00000140326.8 | ENST00000356231.3 |
| exon_skip_126416 | 15 | 43028072:43028276:43028499:43028978:43029210:43029324 | 43028499:43028978 | ENSG00000140326.8 | ENST00000356231.3 |
| 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 CDAN1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CDAN1 |
| 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 |
| 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 |
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SNVs in the skipped exons for CDAN1 |
| - 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 |
| UCEC | TCGA-D1-A17H-01 | exon_skip_126408 exon_skip_126407 | 43019819 | 43019967 | 43019890 | 43019890 | Frame_Shift_Del | C | - | p.E1009fs |
| UCEC | TCGA-D1-A17H-01 | exon_skip_126408 exon_skip_126407 | 43019866 | 43019967 | 43019890 | 43019890 | Frame_Shift_Del | C | - | p.E1009fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_126409 | 43020850 | 43021008 | 43020855 | 43020855 | Frame_Shift_Del | C | - | p.G933fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_126409 | 43020850 | 43021008 | 43020928 | 43020928 | Frame_Shift_Del | C | - | p.G909fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_126410 | 43023818 | 43024023 | 43023871 | 43023871 | Frame_Shift_Del | G | - | p.P562fs |
| STAD | TCGA-BR-4370-01 | exon_skip_126410 | 43023818 | 43024023 | 43023871 | 43023871 | Frame_Shift_Del | G | - | p.T563fs |
| STAD | TCGA-CG-4305-01 | exon_skip_126410 | 43023818 | 43024023 | 43023871 | 43023871 | Frame_Shift_Del | G | - | p.T563fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_126410 | 43023818 | 43024023 | 43023886 | 43023886 | Frame_Shift_Del | C | - | p.G557fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_126412 | 43025295 | 43025384 | 43025321 | 43025321 | Frame_Shift_Del | A | - | p.F477fs |
| KIRC | TCGA-A3-3363-01 | exon_skip_126408 exon_skip_126407 | 43019819 | 43019967 | 43019889 | 43019890 | Frame_Shift_Ins | - | C | p.A1009fs |
| KIRC | TCGA-A3-3363-01 | exon_skip_126408 exon_skip_126407 | 43019866 | 43019967 | 43019889 | 43019890 | Frame_Shift_Ins | - | C | p.A1009fs |
| BLCA | TCGA-G2-A3VY-01 | exon_skip_126406 | 43018295 | 43018358 | 43018340 | 43018340 | Nonsense_Mutation | C | A | p.E1075* |
| BRCA | TCGA-D8-A1Y0-01 | exon_skip_126412 | 43025295 | 43025384 | 43025328 | 43025328 | Nonsense_Mutation | C | T | p.W475* |
| STAD | TCGA-BR-6852-01 | exon_skip_126412 | 43025295 | 43025384 | 43025362 | 43025362 | Nonsense_Mutation | G | A | p.R464* |
| STAD | TCGA-BR-6852-01 | exon_skip_126412 | 43025295 | 43025384 | 43025362 | 43025362 | Nonsense_Mutation | G | A | p.R464X |
| - 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 |
| DV90_LUNG | 43019866 | 43019967 | 43019890 | 43019890 | Frame_Shift_Del | C | - | p.E1009fs |
| DV90_LUNG | 43019819 | 43019967 | 43019890 | 43019890 | Frame_Shift_Del | C | - | p.E1009fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 43023818 | 43024023 | 43023896 | 43023897 | Frame_Shift_Del | CT | - | p.S555fs |
| HC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43019866 | 43019967 | 43019890 | 43019891 | Frame_Shift_Ins | - | AA | p.E1009fs |
| HC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43019819 | 43019967 | 43019890 | 43019891 | Frame_Shift_Ins | - | AA | p.E1009fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43019819 | 43019967 | 43019839 | 43019839 | Missense_Mutation | G | A | p.H1026Y |
| C8166_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43019866 | 43019967 | 43019887 | 43019887 | Missense_Mutation | G | A | p.R1010W |
| C8166_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43019819 | 43019967 | 43019887 | 43019887 | Missense_Mutation | G | A | p.R1010W |
| CALU3_LUNG | 43019866 | 43019967 | 43019887 | 43019887 | Missense_Mutation | G | A | p.R1010W |
| CALU3_LUNG | 43019819 | 43019967 | 43019887 | 43019887 | Missense_Mutation | G | A | p.R1010W |
| HCT15_LARGE_INTESTINE | 43020850 | 43021008 | 43020950 | 43020950 | Missense_Mutation | C | A | p.V902L |
| PC9_LUNG | 43023818 | 43024023 | 43023926 | 43023926 | Missense_Mutation | C | A | p.R544L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43023818 | 43024023 | 43023936 | 43023936 | Missense_Mutation | G | A | p.R541W |
| KM12_LARGE_INTESTINE | 43023818 | 43024023 | 43023977 | 43023977 | Missense_Mutation | G | A | p.A527V |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43025295 | 43025384 | 43025351 | 43025351 | Missense_Mutation | T | G | p.E467D |
| EFO21_OVARY | 43026424 | 43026544 | 43026492 | 43026492 | Missense_Mutation | G | A | p.R397W |
| EN_ENDOMETRIUM | 43026424 | 43026544 | 43026426 | 43026426 | Nonsense_Mutation | T | A | p.K419* |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43018295 | 43018358 | 43018295 | 43018295 | Splice_Site | C | T | p.V1090I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDAN1 |
| 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 CDAN1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDAN1 |
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RelatedDrugs for CDAN1 |
| 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 CDAN1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CDAN1 | C0271933 | Congenital dyserythropoietic anemia, type I | 2 | ORPHANET;UNIPROT |
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