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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 DOCK1 |
 Gene summary |
| Gene information | Gene symbol | DOCK1 | Gene ID | 1793 |
| Gene name | dedicator of cytokinesis 1 | |
| Synonyms | DOCK180|ced5 | |
| Cytomap | 10q26.2 | |
| Type of gene | protein-coding | |
| Description | dedicator of cytokinesis protein 1180 kDa protein downstream of CRKDOwnstream of CrK | |
| Modification date | 20180522 | |
| UniProtAcc | Q14185 | |
| Context | PubMed: DOCK1 [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 DOCK1 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 DOCK1 |
| 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 DOCK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_46045 | 10 | 128788718:128788867:128795011:128795147:128796355:128796513 | 128795011:128795147 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46046 | 10 | 128797617:128797699:128798435:128798571:128806995:128807068 | 128798435:128798571 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46052 | 10 | 128810558:128810638:128816973:128817099:128821463:128821588 | 128816973:128817099 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46053 | 10 | 128821463:128821588:128822948:128823047:128824615:128824688 | 128822948:128823047 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46054 | 10 | 128835982:128836080:128840888:128840978:128841327:128841428 | 128840888:128840978 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46055 | 10 | 128841327:128841428:128850944:128851079:128859931:128860040 | 128850944:128851079 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46056 | 10 | 128850944:128851079:128859931:128860040:128904494:128904565 | 128859931:128860040 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46058 | 10 | 128859931:128860040:128904494:128904565:128908511:128908618 | 128904494:128904565 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46059 | 10 | 128925932:128926028:129046271:129046373:129055598:129055693 | 129046271:129046373 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46067 | 10 | 129179541:129179632:129183053:129183173:129201318:129201408 | 129183053:129183173 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46071 | 10 | 129242389:129242543:129245657:129245809:129249595:129250781 | 129245657:129245809 | ENSG00000150760.8 | ENST00000280333.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DOCK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_46045 | 10 | 128788718:128788867:128795011:128795147:128796355:128796513 | 128795011:128795147 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46046 | 10 | 128797617:128797699:128798435:128798571:128806995:128807068 | 128798435:128798571 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46052 | 10 | 128810558:128810638:128816973:128817099:128821463:128821588 | 128816973:128817099 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46053 | 10 | 128821463:128821588:128822948:128823047:128824615:128824688 | 128822948:128823047 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46054 | 10 | 128835982:128836080:128840888:128840978:128841327:128841428 | 128840888:128840978 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46055 | 10 | 128841327:128841428:128850944:128851079:128859931:128860040 | 128850944:128851079 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46056 | 10 | 128850944:128851079:128859931:128860040:128904494:128904565 | 128859931:128860040 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46058 | 10 | 128859931:128860040:128904494:128904565:128908511:128908618 | 128904494:128904565 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46059 | 10 | 128925932:128926028:129046271:129046373:129055598:129055693 | 129046271:129046373 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46067 | 10 | 129179541:129179632:129183053:129183173:129201318:129201408 | 129183053:129183173 | ENSG00000150760.8 | ENST00000280333.6 |
| exon_skip_46071 | 10 | 129242389:129242543:129245657:129245809:129249595:129250781 | 129245657:129245809 | ENSG00000150760.8 | ENST00000280333.6 |
| 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 DOCK1 |
| 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 |
| ENST00000280333 | 128795011 | 128795147 | Frame-shift |
| ENST00000280333 | 128798435 | 128798571 | Frame-shift |
| ENST00000280333 | 128859931 | 128860040 | Frame-shift |
| ENST00000280333 | 128904494 | 128904565 | Frame-shift |
| ENST00000280333 | 129245657 | 129245809 | Frame-shift |
| ENST00000280333 | 128816973 | 128817099 | In-frame |
| ENST00000280333 | 128822948 | 128823047 | In-frame |
| ENST00000280333 | 128840888 | 128840978 | In-frame |
| ENST00000280333 | 128850944 | 128851079 | In-frame |
| ENST00000280333 | 129046271 | 129046373 | In-frame |
| ENST00000280333 | 129183053 | 129183173 | 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 |
| ENST00000280333 | 128795011 | 128795147 | Frame-shift |
| ENST00000280333 | 128798435 | 128798571 | Frame-shift |
| ENST00000280333 | 128859931 | 128860040 | Frame-shift |
| ENST00000280333 | 128904494 | 128904565 | Frame-shift |
| ENST00000280333 | 129245657 | 129245809 | Frame-shift |
| ENST00000280333 | 128816973 | 128817099 | In-frame |
| ENST00000280333 | 128822948 | 128823047 | In-frame |
| ENST00000280333 | 128840888 | 128840978 | In-frame |
| ENST00000280333 | 128850944 | 128851079 | In-frame |
| ENST00000280333 | 129046271 | 129046373 | In-frame |
| ENST00000280333 | 129183053 | 129183173 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DOCK1 |
| 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 |
| ENST00000280333 | 6814 | 1865 | 128816973 | 128817099 | 1248 | 1373 | 379 | 421 |
| ENST00000280333 | 6814 | 1865 | 128822948 | 128823047 | 1499 | 1597 | 463 | 496 |
| ENST00000280333 | 6814 | 1865 | 128840888 | 128840978 | 2057 | 2146 | 649 | 679 |
| ENST00000280333 | 6814 | 1865 | 128850944 | 128851079 | 2248 | 2382 | 713 | 757 |
| ENST00000280333 | 6814 | 1865 | 129046271 | 129046373 | 2894 | 2995 | 928 | 962 |
| ENST00000280333 | 6814 | 1865 | 129183053 | 129183173 | 3854 | 3973 | 1248 | 1288 |
| 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 |
| ENST00000280333 | 6814 | 1865 | 128816973 | 128817099 | 1248 | 1373 | 379 | 421 |
| ENST00000280333 | 6814 | 1865 | 128822948 | 128823047 | 1499 | 1597 | 463 | 496 |
| ENST00000280333 | 6814 | 1865 | 128840888 | 128840978 | 2057 | 2146 | 649 | 679 |
| ENST00000280333 | 6814 | 1865 | 128850944 | 128851079 | 2248 | 2382 | 713 | 757 |
| ENST00000280333 | 6814 | 1865 | 129046271 | 129046373 | 2894 | 2995 | 928 | 962 |
| ENST00000280333 | 6814 | 1865 | 129183053 | 129183173 | 3854 | 3973 | 1248 | 1288 |
| 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 |
| Q14185 | 379 | 421 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
| Q14185 | 463 | 496 | 493 | 499 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L4C |
| Q14185 | 463 | 496 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
| Q14185 | 463 | 496 | 425 | 609 | Domain | Note=DHR-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00983 |
| Q14185 | 649 | 679 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
| Q14185 | 713 | 757 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
| Q14185 | 928 | 962 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
| Q14185 | 1248 | 1288 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
| Q14185 | 1248 | 1288 | 1207 | 1617 | Domain | Note=DHR-2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00984 |
| 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 |
| Q14185 | 379 | 421 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
| Q14185 | 463 | 496 | 493 | 499 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L4C |
| Q14185 | 463 | 496 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
| Q14185 | 463 | 496 | 425 | 609 | Domain | Note=DHR-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00983 |
| Q14185 | 649 | 679 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
| Q14185 | 713 | 757 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
| Q14185 | 928 | 962 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
| Q14185 | 1248 | 1288 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
| Q14185 | 1248 | 1288 | 1207 | 1617 | Domain | Note=DHR-2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00984 |
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SNVs in the skipped exons for DOCK1 |
| - 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-A3A0-01 | exon_skip_46045 | 128795012 | 128795147 | 128795115 | 128795115 | Frame_Shift_Del | A | - | p.K193fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_46046 | 128798436 | 128798571 | 128798543 | 128798543 | Frame_Shift_Del | G | - | p.S319fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_46046 | 128798436 | 128798571 | 128798543 | 128798543 | Frame_Shift_Del | G | - | p.S319fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_46046 | 128798436 | 128798571 | 128798543 | 128798543 | Frame_Shift_Del | G | - | p.S319fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_46053 | 128822949 | 128823047 | 128822956 | 128822956 | Frame_Shift_Del | T | - | p.I466fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_46059 | 129046272 | 129046373 | 129046353 | 129046353 | Frame_Shift_Del | A | - | p.K956fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_46071 | 129245658 | 129245809 | 129245680 | 129245680 | Frame_Shift_Del | G | - | p.T1791fs |
| STAD | TCGA-F1-6177-01 | exon_skip_46071 | 129245658 | 129245809 | 129245705 | 129245705 | Frame_Shift_Del | C | - | p.P1800fs |
| UCEC | TCGA-B5-A11O-01 | exon_skip_46071 | 129245658 | 129245809 | 129245792 | 129245792 | Frame_Shift_Del | C | - | p.P1850fs |
| STAD | TCGA-BR-4257-01 | exon_skip_46046 | 128798436 | 128798571 | 128798457 | 128798458 | Frame_Shift_Ins | - | A | p.L290fs |
| BLCA | TCGA-KQ-A41S-01 | exon_skip_46054 | 128840889 | 128840978 | 128840895 | 128840895 | Nonsense_Mutation | C | T | p.Q652* |
| UCEC | TCGA-AP-A059-01 | exon_skip_46067 | 129183054 | 129183173 | 129183158 | 129183158 | Nonsense_Mutation | C | A | p.Y1349* |
| - 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 |
| TGBC11TKB_STOMACH | 129183054 | 129183173 | 129183065 | 129183066 | Frame_Shift_Del | TG | - | p.V1253fs |
| HEC151_ENDOMETRIUM | 129245658 | 129245809 | 129245705 | 129245705 | Frame_Shift_Del | C | - | p.P1801fs |
| C8166_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128795012 | 128795147 | 128795046 | 128795046 | Missense_Mutation | G | T | p.D170Y |
| SW756_CERVIX | 128795012 | 128795147 | 128795136 | 128795136 | Missense_Mutation | C | A | p.Q200K |
| SNU1040_LARGE_INTESTINE | 128798436 | 128798571 | 128798452 | 128798452 | Missense_Mutation | A | G | p.D289G |
| A388_SKIN | 128798436 | 128798571 | 128798471 | 128798471 | Missense_Mutation | C | G | p.I295M |
| ML1_THYROID | 128798436 | 128798571 | 128798471 | 128798471 | Missense_Mutation | C | G | p.I295M |
| SNU1040_LARGE_INTESTINE | 128798436 | 128798571 | 128798494 | 128798494 | Missense_Mutation | G | A | p.R303H |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128798436 | 128798571 | 128798550 | 128798550 | Missense_Mutation | C | T | p.R322W |
| HCT116_LARGE_INTESTINE | 128816974 | 128817099 | 128817034 | 128817034 | Missense_Mutation | C | T | p.P400L |
| TGBC11TKB_STOMACH | 128816974 | 128817099 | 128817055 | 128817055 | Missense_Mutation | C | T | p.T407I |
| ANGMCSS_CENTRAL_NERVOUS_SYSTEM | 128822949 | 128823047 | 128823009 | 128823009 | Missense_Mutation | T | A | p.Y484N |
| NCIH1573_LUNG | 128840889 | 128840978 | 128840892 | 128840892 | Missense_Mutation | C | G | p.L651V |
| SW626_OVARY | 128850945 | 128851079 | 128851028 | 128851028 | Missense_Mutation | C | T | p.A741V |
| NCIH2291_LUNG | 128850945 | 128851079 | 128851058 | 128851058 | Missense_Mutation | G | A | p.R751H |
| SISO_CERVIX | 128859932 | 128860040 | 128859949 | 128859949 | Missense_Mutation | G | A | p.G764E |
| NCIH810_LUNG | 128859932 | 128860040 | 128860027 | 128860027 | Missense_Mutation | C | T | p.T790I |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129046272 | 129046373 | 129046358 | 129046358 | Missense_Mutation | G | A | p.M957I |
| LS513_LARGE_INTESTINE | 129046272 | 129046373 | 129046360 | 129046360 | Missense_Mutation | G | C | p.R958T |
| HCC1588_LUNG | 129046272 | 129046373 | 129046360 | 129046360 | Missense_Mutation | G | C | p.R958T |
| NCIH1651_LUNG | 129245658 | 129245809 | 129245672 | 129245672 | Missense_Mutation | G | A | p.G1789S |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128816974 | 128817099 | 128817021 | 128817021 | Nonsense_Mutation | C | T | p.R396* |
| NCIH1435_LUNG | 128822949 | 128823047 | 128823012 | 128823012 | Nonsense_Mutation | C | T | p.Q485* |
| EFE184_ENDOMETRIUM | 128822949 | 128823047 | 128822949 | 128822949 | Splice_Site | C | T | p.H464Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DOCK1 |
| 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 DOCK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DOCK1 |
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RelatedDrugs for DOCK1 |
| 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 DOCK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DOCK1 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
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