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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 DYNC1I1 |
 Gene summary |
| Gene information | Gene symbol | DYNC1I1 | Gene ID | 1780 |
| Gene name | dynein cytoplasmic 1 intermediate chain 1 | |
| Synonyms | DNCI1|DNCIC1 | |
| Cytomap | 7q21.3 | |
| Type of gene | protein-coding | |
| Description | cytoplasmic dynein 1 intermediate chain 1DH IC-1cytoplasmic dynein intermediate chain 1dynein intermediate chain 1, cytosolicdynein, cytoplasmic, intermediate polypeptide 1 | |
| Modification date | 20180523 | |
| UniProtAcc | O14576 | |
| Context | PubMed: DYNC1I1 [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 DYNC1I1 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 DYNC1I1 |
| 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 DYNC1I1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_468416 | 7 | 95401915:95402085:95431991:95432106:95434032:95434149 | 95431991:95432106 | ENSG00000158560.10 | ENST00000524053.1 |
| exon_skip_468417 | 7 | 95439703:95439818:95442507:95442649:95499194:95499310 | 95442507:95442649 | ENSG00000158560.10 | ENST00000437599.1 |
| exon_skip_468420 | 7 | 95439703:95439818:95442558:95442649:95499194:95499310 | 95442558:95442649 | ENSG00000158560.10 | ENST00000359388.4,ENST00000537881.1 |
| exon_skip_468424 | 7 | 95442591:95442649:95457368:95457428:95499194:95499310 | 95457368:95457428 | ENSG00000158560.10 | ENST00000324972.6,ENST00000457059.1,ENST00000447467.2 |
| exon_skip_468427 | 7 | 95606823:95606913:95614126:95614289:95616367:95616467 | 95614126:95614289 | ENSG00000158560.10 | ENST00000519371.1,ENST00000359388.4,ENST00000324972.6,ENST00000437599.1,ENST00000457059.1,ENST00000447467.2,ENST00000537881.1 |
| exon_skip_468429 | 7 | 95625259:95625385:95657486:95657633:95661978:95662092 | 95657486:95657633 | ENSG00000158560.10 | ENST00000359388.4,ENST00000324972.6,ENST00000437599.1,ENST00000457059.1,ENST00000447467.2,ENST00000537881.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DYNC1I1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_468416 | 7 | 95401915:95402085:95431991:95432106:95434032:95434149 | 95431991:95432106 | ENSG00000158560.10 | ENST00000524053.1 |
| exon_skip_468417 | 7 | 95439703:95439818:95442507:95442649:95499194:95499310 | 95442507:95442649 | ENSG00000158560.10 | ENST00000437599.1 |
| exon_skip_468420 | 7 | 95439703:95439818:95442558:95442649:95499194:95499310 | 95442558:95442649 | ENSG00000158560.10 | ENST00000537881.1,ENST00000359388.4 |
| exon_skip_468424 | 7 | 95442591:95442649:95457368:95457428:95499194:95499310 | 95457368:95457428 | ENSG00000158560.10 | ENST00000447467.2,ENST00000324972.6,ENST00000457059.1 |
| exon_skip_468427 | 7 | 95606823:95606913:95614126:95614289:95616367:95616467 | 95614126:95614289 | ENSG00000158560.10 | ENST00000447467.2,ENST00000324972.6,ENST00000537881.1,ENST00000437599.1,ENST00000359388.4,ENST00000457059.1,ENST00000519371.1 |
| exon_skip_468429 | 7 | 95625259:95625385:95657486:95657633:95661978:95662092 | 95657486:95657633 | ENSG00000158560.10 | ENST00000447467.2,ENST00000324972.6,ENST00000537881.1,ENST00000437599.1,ENST00000359388.4,ENST00000457059.1 |
| 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 DYNC1I1 |
| 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 |
| ENST00000324972 | 95614126 | 95614289 | Frame-shift |
| ENST00000324972 | 95457368 | 95457428 | In-frame |
| ENST00000324972 | 95657486 | 95657633 | 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 |
| ENST00000324972 | 95614126 | 95614289 | Frame-shift |
| ENST00000324972 | 95457368 | 95457428 | In-frame |
| ENST00000324972 | 95657486 | 95657633 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DYNC1I1 |
| 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 |
| ENST00000324972 | 2967 | 645 | 95457368 | 95457428 | 559 | 618 | 122 | 141 |
| ENST00000324972 | 2967 | 645 | 95657486 | 95657633 | 1214 | 1360 | 340 | 389 |
| 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 |
| ENST00000324972 | 2967 | 645 | 95457368 | 95457428 | 559 | 618 | 122 | 141 |
| ENST00000324972 | 2967 | 645 | 95657486 | 95657633 | 1214 | 1360 | 340 | 389 |
| 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 |
| O14576 | 122 | 141 | 123 | 142 | Alternative sequence | ID=VSP_001333;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:14702039,PMID:15489334 |
| O14576 | 122 | 141 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 122 | 141 | 2 | 123 | Region | Note=Interaction with DCTN1;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14576 | 340 | 389 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 340 | 389 | 373 | 373 | Natural variant | ID=VAR_064709;Note=Found in a renal cell carcinoma case%3B somatic mutation. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21248752;Dbxref=PMID:21248752 |
| O14576 | 340 | 389 | 338 | 378 | Repeat | Note=WD 2 |
| O14576 | 340 | 389 | 387 | 428 | Repeat | Note=WD 3 |
| 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 |
| O14576 | 122 | 141 | 123 | 142 | Alternative sequence | ID=VSP_001333;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:14702039,PMID:15489334 |
| O14576 | 122 | 141 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 122 | 141 | 2 | 123 | Region | Note=Interaction with DCTN1;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14576 | 340 | 389 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 340 | 389 | 373 | 373 | Natural variant | ID=VAR_064709;Note=Found in a renal cell carcinoma case%3B somatic mutation. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21248752;Dbxref=PMID:21248752 |
| O14576 | 340 | 389 | 338 | 378 | Repeat | Note=WD 2 |
| O14576 | 340 | 389 | 387 | 428 | Repeat | Note=WD 3 |
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SNVs in the skipped exons for DYNC1I1 |
| - 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-G3-A3CJ-01 | exon_skip_468420 exon_skip_468417 | 95442508 | 95442649 | 95442521 | 95442521 | Frame_Shift_Del | T | - | p.H79fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_468420 exon_skip_468417 | 95442508 | 95442649 | 95442521 | 95442521 | Frame_Shift_Del | T | - | p.H79fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_468420 exon_skip_468417 | 95442508 | 95442649 | 95442538 | 95442538 | Frame_Shift_Del | C | - | p.T85fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_468420 exon_skip_468417 | 95442508 | 95442649 | 95442565 | 95442565 | Frame_Shift_Del | C | - | p.T94fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_468420 exon_skip_468417 | 95442559 | 95442649 | 95442565 | 95442565 | Frame_Shift_Del | C | - | p.T94fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_468420 exon_skip_468417 | 95442508 | 95442649 | 95442576 | 95442576 | Frame_Shift_Del | C | - | p.P98fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_468420 exon_skip_468417 | 95442559 | 95442649 | 95442576 | 95442576 | Frame_Shift_Del | C | - | p.P98fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_468420 exon_skip_468417 | 95442508 | 95442649 | 95442635 | 95442635 | Frame_Shift_Del | G | - | p.L117fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_468420 exon_skip_468417 | 95442559 | 95442649 | 95442635 | 95442635 | Frame_Shift_Del | G | - | p.L117fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_468427 | 95614127 | 95614289 | 95614249 | 95614249 | Frame_Shift_Del | T | - | p.F253fs |
| STAD | TCGA-CG-5733-01 | exon_skip_468427 | 95614127 | 95614289 | 95614280 | 95614280 | Frame_Shift_Del | A | - | p.E262fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_468420 exon_skip_468417 | 95442508 | 95442649 | 95442564 | 95442565 | Frame_Shift_Ins | - | C | p.P94fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_468420 exon_skip_468417 | 95442559 | 95442649 | 95442564 | 95442565 | Frame_Shift_Ins | - | C | p.P94fs |
| BLCA | TCGA-GV-A40G-01 | exon_skip_468420 exon_skip_468417 | 95442508 | 95442649 | 95442532 | 95442532 | Nonsense_Mutation | G | A | p.W83* |
| OV | TCGA-13-1491-01 | exon_skip_468420 exon_skip_468417 | 95442508 | 95442649 | 95442612 | 95442612 | Nonsense_Mutation | G | T | p.G110* |
| OV | TCGA-13-1491-01 | exon_skip_468420 exon_skip_468417 | 95442559 | 95442649 | 95442612 | 95442612 | Nonsense_Mutation | G | T | p.G110* |
| SKCM | TCGA-W3-AA1Q-06 | exon_skip_468429 | 95657487 | 95657633 | 95657570 | 95657570 | Nonsense_Mutation | G | A | p.W368* |
| GBM | TCGA-06-0129-01 | exon_skip_468429 | 95657487 | 95657633 | 95657586 | 95657586 | Nonsense_Mutation | C | T | p.R374* |
| THCA | TCGA-DJ-A2Q1-01 | exon_skip_468420 exon_skip_468417 | 95442508 | 95442649 | 95442507 | 95442507 | Splice_Site | G | A | . |
| ESCA | TCGA-LN-A49L-01 | exon_skip_468424 | 95457369 | 95457428 | 95457368 | 95457368 | Splice_Site | G | A | . |
| ESCA | TCGA-LN-A49L-01 | exon_skip_468424 | 95457369 | 95457428 | 95457368 | 95457368 | Splice_Site | G | A | e4-1 |
| - 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 |
| U118MG_CENTRAL_NERVOUS_SYSTEM | 95442508 | 95442649 | 95442523 | 95442523 | Missense_Mutation | T | G | p.F80C |
| MCC13_SKIN | 95442508 | 95442649 | 95442549 | 95442549 | Missense_Mutation | C | T | p.H89Y |
| HEC251_ENDOMETRIUM | 95442559 | 95442649 | 95442583 | 95442583 | Missense_Mutation | C | T | p.S100L |
| HEC251_ENDOMETRIUM | 95442508 | 95442649 | 95442583 | 95442583 | Missense_Mutation | C | T | p.S100L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 95442559 | 95442649 | 95442608 | 95442608 | Missense_Mutation | A | T | p.E108D |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 95442508 | 95442649 | 95442608 | 95442608 | Missense_Mutation | A | T | p.E108D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95442559 | 95442649 | 95442608 | 95442608 | Missense_Mutation | A | T | p.E108D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95442508 | 95442649 | 95442608 | 95442608 | Missense_Mutation | A | T | p.E108D |
| HCT116_LARGE_INTESTINE | 95457369 | 95457428 | 95457412 | 95457412 | Missense_Mutation | T | C | p.S137P |
| TGBC24TKB_BILIARY_TRACT | 95457369 | 95457428 | 95457413 | 95457413 | Missense_Mutation | C | T | p.S137L |
| JHUEM1_ENDOMETRIUM | 95614127 | 95614289 | 95614210 | 95614210 | Missense_Mutation | C | T | p.R239W |
| ACCMESO1_PLEURA | 95614127 | 95614289 | 95614268 | 95614269 | Missense_Mutation | GA | TG | p.R258L |
| D245MG_CENTRAL_NERVOUS_SYSTEM | 95614127 | 95614289 | 95614268 | 95614268 | Missense_Mutation | G | A | p.R258Q |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95657487 | 95657633 | 95657515 | 95657515 | Missense_Mutation | G | A | p.R350H |
| A549_LUNG | 95657487 | 95657633 | 95657532 | 95657532 | Missense_Mutation | G | A | p.V356M |
| SNU81_LARGE_INTESTINE | 95657487 | 95657633 | 95657578 | 95657578 | Missense_Mutation | G | A | p.R371H |
| VAESBJ_SOFT_TISSUE | 95657487 | 95657633 | 95657570 | 95657570 | Nonsense_Mutation | G | A | p.W368* |
| HT115_LARGE_INTESTINE | 95657487 | 95657633 | 95657586 | 95657586 | Nonsense_Mutation | C | T | p.R374* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DYNC1I1 |
| 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 DYNC1I1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DYNC1I1 |
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RelatedDrugs for DYNC1I1 |
| 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 DYNC1I1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DYNC1I1 | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
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