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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 DYNC1LI1 |
 Gene summary |
| Gene information | Gene symbol | DYNC1LI1 | Gene ID | 51143 |
| Gene name | dynein cytoplasmic 1 light intermediate chain 1 | |
| Synonyms | DLC-A|DNCLI1|LIC1 | |
| Cytomap | 3p22.3 | |
| Type of gene | protein-coding | |
| Description | cytoplasmic dynein 1 light intermediate chain 1dynein light chain Adynein light intermediate chain 1, cytosolicdynein, cytoplasmic, light intermediate polypeptide 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y6G9 | |
| Context | PubMed: DYNC1LI1 [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 DYNC1LI1 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 DYNC1LI1 |
| 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 DYNC1LI1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_382216 | 3 | 32571775:32571820:32571952:32572012:32574477:32574589 | 32571952:32572012 | ENSG00000144635.4 | ENST00000432458.2,ENST00000273130.4,ENST00000472985.1 |
| exon_skip_382217 | 3 | 32571952:32572012:32574477:32574589:32576002:32576138 | 32574477:32574589 | ENSG00000144635.4 | ENST00000432458.2,ENST00000273130.4,ENST00000472985.1 |
| exon_skip_382219 | 3 | 32578502:32578596:32582528:32582698:32586367:32586598 | 32582528:32582698 | ENSG00000144635.4 | ENST00000273130.4,ENST00000481915.1 |
| exon_skip_382223 | 3 | 32586480:32586598:32587340:32587457:32611837:32611911 | 32587340:32587457 | ENSG00000144635.4 | ENST00000273130.4,ENST00000481915.1 |
| exon_skip_382224 | 3 | 32587365:32587457:32608104:32608227:32611837:32611911 | 32608104:32608227 | ENSG00000144635.4 | ENST00000424991.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DYNC1LI1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_382216 | 3 | 32571775:32571820:32571952:32572012:32574477:32574589 | 32571952:32572012 | ENSG00000144635.4 | ENST00000273130.4,ENST00000432458.2,ENST00000472985.1 |
| exon_skip_382217 | 3 | 32571952:32572012:32574477:32574589:32576002:32576138 | 32574477:32574589 | ENSG00000144635.4 | ENST00000273130.4,ENST00000432458.2,ENST00000472985.1 |
| exon_skip_382219 | 3 | 32578502:32578596:32582528:32582698:32586367:32586598 | 32582528:32582698 | ENSG00000144635.4 | ENST00000273130.4,ENST00000481915.1 |
| exon_skip_382220 | 3 | 32578502:32578596:32582528:32582698:32611837:32611911 | 32582528:32582698 | ENSG00000144635.4 | ENST00000432458.2 |
| exon_skip_382223 | 3 | 32586480:32586598:32587340:32587457:32611837:32611911 | 32587340:32587457 | ENSG00000144635.4 | ENST00000273130.4,ENST00000481915.1 |
| exon_skip_382224 | 3 | 32587365:32587457:32608104:32608227:32611837:32611911 | 32608104:32608227 | ENSG00000144635.4 | ENST00000424991.1 |
| 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 DYNC1LI1 |
| 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 |
| ENST00000273130 | 32574477 | 32574589 | Frame-shift |
| ENST00000273130 | 32582528 | 32582698 | Frame-shift |
| ENST00000273130 | 32571952 | 32572012 | In-frame |
| ENST00000273130 | 32587340 | 32587457 | 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 |
| ENST00000273130 | 32574477 | 32574589 | Frame-shift |
| ENST00000273130 | 32582528 | 32582698 | Frame-shift |
| ENST00000273130 | 32571952 | 32572012 | In-frame |
| ENST00000273130 | 32587340 | 32587457 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DYNC1LI1 |
| 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 |
| ENST00000273130 | 2521 | 523 | 32587340 | 32587457 | 325 | 441 | 73 | 112 |
| ENST00000273130 | 2521 | 523 | 32571952 | 32572012 | 1185 | 1244 | 360 | 380 |
| 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 |
| ENST00000273130 | 2521 | 523 | 32587340 | 32587457 | 325 | 441 | 73 | 112 |
| ENST00000273130 | 2521 | 523 | 32571952 | 32572012 | 1185 | 1244 | 360 | 380 |
| 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 |
| Q9Y6G9 | 73 | 112 | 1 | 523 | Chain | ID=PRO_0000114666;Note=Cytoplasmic dynein 1 light intermediate chain 1 |
| Q9Y6G9 | 73 | 112 | 74 | 81 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y6G9 | 360 | 380 | 1 | 523 | Chain | ID=PRO_0000114666;Note=Cytoplasmic dynein 1 light intermediate chain 1 |
| 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 |
| Q9Y6G9 | 73 | 112 | 1 | 523 | Chain | ID=PRO_0000114666;Note=Cytoplasmic dynein 1 light intermediate chain 1 |
| Q9Y6G9 | 73 | 112 | 74 | 81 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y6G9 | 360 | 380 | 1 | 523 | Chain | ID=PRO_0000114666;Note=Cytoplasmic dynein 1 light intermediate chain 1 |
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SNVs in the skipped exons for DYNC1LI1 |
| - 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_382219 | 32582529 | 32582698 | 32582632 | 32582632 | Frame_Shift_Del | T | - | p.N212fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_382223 | 32587341 | 32587457 | 32587412 | 32587412 | Frame_Shift_Del | C | - | p.G89fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_382217 | 32574478 | 32574589 | 32574558 | 32574558 | Nonsense_Mutation | C | A | p.G334* |
| PAAD | TCGA-IB-7651-01 | exon_skip_382217 | 32574478 | 32574589 | 32574558 | 32574558 | Nonsense_Mutation | C | A | p.G334X |
| - 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 |
| HS633T_SOFT_TISSUE | 32574478 | 32574589 | 32574572 | 32574572 | Frame_Shift_Del | T | - | p.N329fs |
| HSC39_STOMACH | 32571953 | 32572012 | 32571974 | 32571974 | Missense_Mutation | C | G | p.Q373H |
| NCIH69_LUNG | 32574478 | 32574589 | 32574551 | 32574551 | Missense_Mutation | A | G | p.L336S |
| KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32574478 | 32574589 | 32574553 | 32574553 | Missense_Mutation | T | C | p.I335M |
| HEC6_ENDOMETRIUM | 32582529 | 32582698 | 32582557 | 32582557 | Missense_Mutation | C | T | p.G237D |
| DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32582529 | 32582698 | 32582579 | 32582579 | Missense_Mutation | C | T | p.D230N |
| HCC1569_BREAST | 32582529 | 32582698 | 32582626 | 32582626 | Missense_Mutation | G | A | p.A214V |
| NCIH1770_LUNG | 32582529 | 32582698 | 32582638 | 32582638 | Missense_Mutation | C | T | p.R210K |
| NCIH2106_LUNG | 32582529 | 32582698 | 32582638 | 32582638 | Missense_Mutation | C | T | p.R210K |
| MZ7MEL_SKIN | 32587341 | 32587457 | 32587344 | 32587344 | Missense_Mutation | C | T | p.D112N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DYNC1LI1 |
| 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 DYNC1LI1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DYNC1LI1 |
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RelatedDrugs for DYNC1LI1 |
| 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 DYNC1LI1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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