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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 DCDC1 |
 Gene summary |
| Gene information | Gene symbol | DCDC1 | Gene ID | 341019 |
| Gene name | doublecortin domain containing 1 | |
| Synonyms | - | |
| Cytomap | 11p13 | |
| Type of gene | protein-coding | |
| Description | doublecortin domain-containing protein 1doublecortin domain containing 5doublecortin domain-containing protein 5 | |
| Modification date | 20180522 | |
| UniProtAcc | M0R2J8 | |
| Context | PubMed: DCDC1 [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 DCDC1 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 DCDC1 |
| 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 DCDC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_70010 | 11 | 30902704:30902855:30903589:30905065:30914364:30914544 | 30903589:30905065 | ENSG00000170959.10 | ENST00000303697.4 |
| exon_skip_70012 | 11 | 30953317:30953499:30973991:30974115:31014005:31014231 | 30973991:30974115 | ENSG00000170959.10 | ENST00000406071.2,ENST00000339794.5,ENST00000483396.1 |
| exon_skip_70013 | 11 | 30953317:30953499:30973991:30974115:31086015:31086173 | 30973991:30974115 | ENSG00000170959.10 | ENST00000597505.1 |
| exon_skip_70014 | 11 | 31086015:31086173:31086565:31086700:31099411:31099472 | 31086565:31086700 | ENSG00000170959.10 | ENST00000597505.1,ENST00000437348.1,ENST00000342355.4 |
| exon_skip_70015 | 11 | 31112939:31113058:31115596:31115731:31123723:31123829 | 31115596:31115731 | ENSG00000170959.10 | ENST00000597505.1,ENST00000437348.1,ENST00000342355.4 |
| exon_skip_70016 | 11 | 31125194:31125316:31128343:31128507:31131806:31131908 | 31128343:31128507 | ENSG00000170959.10 | ENST00000597505.1,ENST00000437348.1,ENST00000342355.4 |
| exon_skip_70017 | 11 | 31131806:31131908:31149015:31149186:31159238:31159331 | 31149015:31149186 | ENSG00000170959.10 | ENST00000597505.1,ENST00000534722.1,ENST00000342355.4 |
| exon_skip_70019 | 11 | 31159238:31159331:31236716:31236810:31262996:31263163 | 31236716:31236810 | ENSG00000170959.10 | ENST00000342355.4 |
| exon_skip_70020 | 11 | 31159238:31159331:31262996:31263163:31287053:31287147 | 31262996:31263163 | ENSG00000170959.10 | ENST00000597505.1 |
| exon_skip_70022 | 11 | 31287053:31287147:31312193:31312399:31327161:31327324 | 31312193:31312399 | ENSG00000170959.10 | ENST00000597505.1,ENST00000452803.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DCDC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_70012 | 11 | 30953317:30953499:30973991:30974115:31014005:31014231 | 30973991:30974115 | ENSG00000170959.10 | ENST00000483396.1,ENST00000406071.2,ENST00000339794.5 |
| exon_skip_70013 | 11 | 30953317:30953499:30973991:30974115:31086015:31086173 | 30973991:30974115 | ENSG00000170959.10 | ENST00000597505.1 |
| exon_skip_70015 | 11 | 31112939:31113058:31115596:31115731:31123723:31123829 | 31115596:31115731 | ENSG00000170959.10 | ENST00000597505.1,ENST00000437348.1,ENST00000342355.4 |
| exon_skip_70016 | 11 | 31125194:31125316:31128343:31128507:31131806:31131908 | 31128343:31128507 | ENSG00000170959.10 | ENST00000597505.1,ENST00000437348.1,ENST00000342355.4 |
| exon_skip_70017 | 11 | 31131806:31131908:31149015:31149186:31159238:31159331 | 31149015:31149186 | ENSG00000170959.10 | ENST00000597505.1,ENST00000342355.4,ENST00000534722.1 |
| exon_skip_70019 | 11 | 31159238:31159331:31236716:31236810:31262996:31263163 | 31236716:31236810 | ENSG00000170959.10 | ENST00000342355.4 |
| exon_skip_70020 | 11 | 31159238:31159331:31262996:31263163:31287053:31287147 | 31262996:31263163 | ENSG00000170959.10 | ENST00000597505.1 |
| exon_skip_70022 | 11 | 31287053:31287147:31312193:31312399:31327161:31327324 | 31312193:31312399 | ENSG00000170959.10 | ENST00000597505.1,ENST00000452803.1 |
| 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 DCDC1 |
| 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 |
| ENST00000597505 | 30973991 | 30974115 | Frame-shift |
| ENST00000597505 | 31128343 | 31128507 | Frame-shift |
| ENST00000597505 | 31262996 | 31263163 | Frame-shift |
| ENST00000452803 | 31312193 | 31312399 | Frame-shift |
| ENST00000597505 | 31312193 | 31312399 | Frame-shift |
| ENST00000597505 | 31086565 | 31086700 | In-frame |
| ENST00000597505 | 31115596 | 31115731 | In-frame |
| ENST00000597505 | 31149015 | 31149186 | 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 |
| ENST00000597505 | 30973991 | 30974115 | Frame-shift |
| ENST00000597505 | 31128343 | 31128507 | Frame-shift |
| ENST00000597505 | 31262996 | 31263163 | Frame-shift |
| ENST00000452803 | 31312193 | 31312399 | Frame-shift |
| ENST00000597505 | 31312193 | 31312399 | Frame-shift |
| ENST00000597505 | 31115596 | 31115731 | In-frame |
| ENST00000597505 | 31149015 | 31149186 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DCDC1 |
| 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 |
| ENST00000597505 | 5369 | 1783 | 31149015 | 31149186 | 1315 | 1485 | 438 | 495 |
| ENST00000597505 | 5369 | 1783 | 31115596 | 31115731 | 1984 | 2118 | 661 | 706 |
| ENST00000597505 | 5369 | 1783 | 31086565 | 31086700 | 2299 | 2433 | 766 | 811 |
| 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 |
| ENST00000597505 | 5369 | 1783 | 31149015 | 31149186 | 1315 | 1485 | 438 | 495 |
| ENST00000597505 | 5369 | 1783 | 31115596 | 31115731 | 1984 | 2118 | 661 | 706 |
| 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 |
| Q6ZRR9 | 438 | 495 | 1 | 648 | Chain | ID=PRO_0000338616;Note=Doublecortin domain-containing protein 5 |
| Q6ZRR9 | 438 | 495 | 491 | 570 | Domain | Note=Doublecortin 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00072 |
| 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 |
| Q6ZRR9 | 438 | 495 | 1 | 648 | Chain | ID=PRO_0000338616;Note=Doublecortin domain-containing protein 5 |
| Q6ZRR9 | 438 | 495 | 491 | 570 | Domain | Note=Doublecortin 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00072 |
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SNVs in the skipped exons for DCDC1 |
| - 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_70022 | 31312194 | 31312399 | 31312239 | 31312239 | Frame_Shift_Del | C | - | p.G305fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_70022 | 31312194 | 31312399 | 31312356 | 31312356 | Frame_Shift_Del | C | - | p.G266fs |
| LUAD | TCGA-78-8640-01 | exon_skip_70012 exon_skip_70013 | 30973992 | 30974115 | 30974028 | 30974028 | Nonsense_Mutation | G | C | p.Y893* |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_70012 exon_skip_70013 | 30973992 | 30974115 | 30974044 | 30974044 | Nonsense_Mutation | C | T | p.W888* |
| SKCM | TCGA-GF-A6C9-06 | exon_skip_70014 | 31086566 | 31086700 | 31086609 | 31086609 | Nonsense_Mutation | C | T | p.W797* |
| LUAD | TCGA-50-5930-01 | exon_skip_70016 | 31128344 | 31128507 | 31128346 | 31128346 | Nonsense_Mutation | G | T | p.Y583* |
| SARC | TCGA-DX-A1L1-01 | exon_skip_70016 | 31128344 | 31128507 | 31128498 | 31128498 | Nonsense_Mutation | T | A | p.K533* |
| ESCA | TCGA-L5-A8NH-01 | exon_skip_70020 | 31262997 | 31263163 | 31263095 | 31263095 | Nonsense_Mutation | C | A | p.G375* |
| HNSC | TCGA-CV-7104-01 | exon_skip_70022 | 31312194 | 31312399 | 31312208 | 31312208 | Nonsense_Mutation | C | A | p.E316* |
| SKCM | TCGA-EE-A3J5-06 | exon_skip_70022 | 31312194 | 31312399 | 31312208 | 31312208 | Nonsense_Mutation | C | A | p.E316* |
| SKCM | TCGA-EE-A3J5-06 | exon_skip_70022 | 31312194 | 31312399 | 31312208 | 31312208 | Nonsense_Mutation | C | A | p.E316X |
| LUAD | TCGA-55-1592-01 | exon_skip_70022 | 31312194 | 31312399 | 31312214 | 31312214 | Nonsense_Mutation | C | A | p.G314* |
| SARC | TCGA-RN-AAAQ-01 | exon_skip_70015 | 31115597 | 31115731 | 31115595 | 31115595 | Splice_Site | A | G | e5+2 |
| - 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 |
| OC316_OVARY | 30973992 | 30974115 | 30974103 | 30974103 | Frame_Shift_Del | T | - | p.K868fs |
| OC314_OVARY | 30973992 | 30974115 | 30974103 | 30974103 | Frame_Shift_Del | T | - | p.K868fs |
| 2313287_STOMACH | 31262997 | 31263163 | 31263009 | 31263009 | Frame_Shift_Del | T | - | p.K403fs |
| HCT116_LARGE_INTESTINE | 31262997 | 31263163 | 31263009 | 31263009 | Frame_Shift_Del | T | - | p.K403fs |
| NUGC3_STOMACH | 31262997 | 31263163 | 31263009 | 31263009 | Frame_Shift_Del | T | - | p.K403fs |
| AN3CA_ENDOMETRIUM | 31262997 | 31263163 | 31263009 | 31263009 | Frame_Shift_Del | T | - | p.K403fs |
| SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30973992 | 30974115 | 30974005 | 30974005 | Missense_Mutation | C | A | p.G901V |
| RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30973992 | 30974115 | 30974021 | 30974021 | Missense_Mutation | G | C | p.P896A |
| RCCJF_KIDNEY | 30973992 | 30974115 | 30974029 | 30974029 | Missense_Mutation | T | A | p.Y893F |
| RXF393_KIDNEY | 30973992 | 30974115 | 30974029 | 30974029 | Missense_Mutation | T | A | p.Y893F |
| CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30973992 | 30974115 | 30974047 | 30974047 | Missense_Mutation | A | G | p.L887P |
| KYSE220_OESOPHAGUS | 30973992 | 30974115 | 30974057 | 30974057 | Missense_Mutation | C | G | p.E884Q |
| MKN45_STOMACH | 30973992 | 30974115 | 30974068 | 30974068 | Missense_Mutation | T | A | p.H880L |
| KYSE410_OESOPHAGUS | 30973992 | 30974115 | 30974074 | 30974074 | Missense_Mutation | C | A | p.W878L |
| ES5_BONE | 30973992 | 30974115 | 30974111 | 30974111 | Missense_Mutation | C | A | p.A866S |
| SNU1033_LARGE_INTESTINE | 31086566 | 31086700 | 31086622 | 31086622 | Missense_Mutation | G | T | p.H793N |
| SN12C_KIDNEY | 31115597 | 31115731 | 31115625 | 31115625 | Missense_Mutation | G | T | p.P697H |
| AM38_CENTRAL_NERVOUS_SYSTEM | 31115597 | 31115731 | 31115637 | 31115637 | Missense_Mutation | G | A | p.S693L |
| LC1F_LUNG | 31128344 | 31128507 | 31128387 | 31128387 | Missense_Mutation | T | C | p.K570E |
| LC1SQSF_LUNG | 31128344 | 31128507 | 31128387 | 31128387 | Missense_Mutation | T | C | p.K570E |
| LC1SQ_LUNG | 31128344 | 31128507 | 31128387 | 31128387 | Missense_Mutation | T | C | p.K570E |
| SW684_SOFT_TISSUE | 31128344 | 31128507 | 31128392 | 31128392 | Missense_Mutation | G | A | p.S568L |
| NCIH1373_LUNG | 31128344 | 31128507 | 31128405 | 31128405 | Missense_Mutation | T | G | p.K564Q |
| MOGGUVW_CENTRAL_NERVOUS_SYSTEM | 31128344 | 31128507 | 31128461 | 31128461 | Missense_Mutation | G | A | p.P545L |
| SW684_SOFT_TISSUE | 31149016 | 31149186 | 31149032 | 31149032 | Missense_Mutation | C | T | p.G490E |
| NCIH2009_LUNG | 31149016 | 31149186 | 31149093 | 31149093 | Missense_Mutation | G | T | p.Q470K |
| RKO_LARGE_INTESTINE | 31149016 | 31149186 | 31149143 | 31149143 | Missense_Mutation | T | C | p.N453S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31149016 | 31149186 | 31149172 | 31149172 | Missense_Mutation | A | C | p.I443M |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31149016 | 31149186 | 31149179 | 31149179 | Missense_Mutation | C | A | p.R441M |
| G361_SKIN | 31262997 | 31263163 | 31263073 | 31263073 | Missense_Mutation | C | T | p.G382E |
| DMS153_LUNG | 31262997 | 31263163 | 31263124 | 31263124 | Missense_Mutation | G | T | p.P365H |
| HCC2998_LARGE_INTESTINE | 31312194 | 31312399 | 31312197 | 31312197 | Missense_Mutation | T | G | p.K319N |
| HCT15_LARGE_INTESTINE | 31312194 | 31312399 | 31312297 | 31312297 | Missense_Mutation | A | G | p.M286T |
| AGS_STOMACH | 31312194 | 31312399 | 31312327 | 31312327 | Missense_Mutation | C | T | p.R276Q |
| MM386_SKIN | 31312194 | 31312399 | 31312346 | 31312346 | Missense_Mutation | G | A | p.P270S |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31312194 | 31312399 | 31312393 | 31312393 | Missense_Mutation | A | G | p.L254P |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31128344 | 31128507 | 31128392 | 31128392 | Nonsense_Mutation | G | T | p.S568* |
| KYSE520_OESOPHAGUS | 31262997 | 31263163 | 31263119 | 31263119 | Nonsense_Mutation | G | A | p.R367* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DCDC1 |
| 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 DCDC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DCDC1 |
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RelatedDrugs for DCDC1 |
| 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 DCDC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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