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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 DRC1 |
 Gene summary |
| Gene information | Gene symbol | DRC1 | Gene ID | 92749 |
| Gene name | dynein regulatory complex subunit 1 | |
| Synonyms | C2orf39|CCDC164|CILD21 | |
| Cytomap | 2p23.3 | |
| Type of gene | protein-coding | |
| Description | dynein regulatory complex protein 1coiled-coil domain-containing protein 164 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UBG3 | |
| Context | PubMed: DRC1 [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 DRC1 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 DRC1 |
| 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 DRC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_323896 | 2 | 26644155:26644268:26647138:26647322:26652495:26652633 | 26647138:26647322 | ENSG00000157856.6 | ENST00000497651.1,ENST00000288710.2 |
| exon_skip_323897 | 2 | 26654751:26654874:26663245:26663385:26667089:26667126 | 26663245:26663385 | ENSG00000157856.6 | ENST00000442810.1,ENST00000483675.1,ENST00000288710.2 |
| exon_skip_323899 | 2 | 26667089:26667224:26667583:26667816:26671558:26671671 | 26667583:26667816 | ENSG00000157856.6 | ENST00000288710.2 |
| exon_skip_323900 | 2 | 26672863:26672953:26673459:26673549:26676187:26676350 | 26673459:26673549 | ENSG00000157856.6 | ENST00000439066.1,ENST00000288710.2 |
| exon_skip_323901 | 2 | 26677514:26677658:26677998:26678101:26679328:26679579 | 26677998:26678101 | ENSG00000157856.6 | ENST00000288710.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DRC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_323896 | 2 | 26644155:26644268:26647138:26647322:26652495:26652633 | 26647138:26647322 | ENSG00000157856.6 | ENST00000288710.2,ENST00000497651.1 |
| exon_skip_323897 | 2 | 26654751:26654874:26663245:26663385:26667089:26667126 | 26663245:26663385 | ENSG00000157856.6 | ENST00000288710.2,ENST00000442810.1,ENST00000483675.1 |
| exon_skip_323899 | 2 | 26667089:26667224:26667583:26667816:26671558:26671671 | 26667583:26667816 | ENSG00000157856.6 | ENST00000288710.2 |
| exon_skip_323900 | 2 | 26672863:26672953:26673459:26673549:26676187:26676350 | 26673459:26673549 | ENSG00000157856.6 | ENST00000288710.2,ENST00000439066.1 |
| exon_skip_323901 | 2 | 26677514:26677658:26677998:26678101:26679328:26679579 | 26677998:26678101 | ENSG00000157856.6 | ENST00000288710.2 |
| 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 DRC1 |
| 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 |
| ENST00000288710 | 26647138 | 26647322 | Frame-shift |
| ENST00000288710 | 26663245 | 26663385 | Frame-shift |
| ENST00000288710 | 26667583 | 26667816 | Frame-shift |
| ENST00000288710 | 26677998 | 26678101 | Frame-shift |
| ENST00000288710 | 26673459 | 26673549 | 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 |
| ENST00000288710 | 26647138 | 26647322 | Frame-shift |
| ENST00000288710 | 26663245 | 26663385 | Frame-shift |
| ENST00000288710 | 26667583 | 26667816 | Frame-shift |
| ENST00000288710 | 26677998 | 26678101 | Frame-shift |
| ENST00000288710 | 26673459 | 26673549 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DRC1 |
| 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 |
| ENST00000288710 | 2508 | 740 | 26673459 | 26673549 | 1674 | 1763 | 533 | 563 |
| 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 |
| ENST00000288710 | 2508 | 740 | 26673459 | 26673549 | 1674 | 1763 | 533 | 563 |
| 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 |
| Q96MC2 | 533 | 563 | 1 | 740 | Chain | ID=PRO_0000277881;Note=Dynein regulatory complex protein 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 |
| Q96MC2 | 533 | 563 | 1 | 740 | Chain | ID=PRO_0000277881;Note=Dynein regulatory complex protein 1 |
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SNVs in the skipped exons for DRC1 |
| - 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_323899 | 26667584 | 26667816 | 26667612 | 26667612 | Frame_Shift_Del | T | - | p.F398fs |
| LUAD | TCGA-86-7955-01 | exon_skip_323899 | 26667584 | 26667816 | 26667616 | 26667616 | Nonsense_Mutation | G | A | p.W399* |
| SKCM | TCGA-EE-A2MT-06 | exon_skip_323899 | 26667584 | 26667816 | 26667734 | 26667734 | Nonsense_Mutation | G | A | p.W438* |
| BLCA | TCGA-GU-AATP-01 | exon_skip_323899 | 26667584 | 26667816 | 26667762 | 26667762 | Nonsense_Mutation | C | T | p.Q448* |
| HNSC | TCGA-BA-A6DE-01 | exon_skip_323899 | 26667584 | 26667816 | 26667762 | 26667762 | Nonsense_Mutation | C | T | p.Q448* |
| - 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 |
| H2369_PLEURA | 26647139 | 26647322 | 26647293 | 26647295 | In_Frame_Del | AAG | - | p.K171del |
| NCIH446_LUNG | 26647139 | 26647322 | 26647148 | 26647148 | Missense_Mutation | G | T | p.K122N |
| SNU81_LARGE_INTESTINE | 26647139 | 26647322 | 26647225 | 26647225 | Missense_Mutation | G | T | p.R148I |
| HEC108_ENDOMETRIUM | 26647139 | 26647322 | 26647227 | 26647227 | Missense_Mutation | A | T | p.I149F |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26663246 | 26663385 | 26663337 | 26663337 | Missense_Mutation | A | G | p.D327G |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26663246 | 26663385 | 26663376 | 26663376 | Missense_Mutation | A | G | p.K340R |
| SNU5_STOMACH | 26667584 | 26667816 | 26667646 | 26667646 | Missense_Mutation | C | T | p.A409V |
| SNU81_LARGE_INTESTINE | 26667584 | 26667816 | 26667745 | 26667745 | Missense_Mutation | A | C | p.N442T |
| TMK1_STOMACH | 26667584 | 26667816 | 26667759 | 26667759 | Missense_Mutation | T | C | p.S447P |
| NCIH1339_LUNG | 26677999 | 26678101 | 26678061 | 26678061 | Missense_Mutation | C | T | p.T709I |
| JHUEM2_ENDOMETRIUM | 26677999 | 26678101 | 26678088 | 26678088 | Missense_Mutation | A | G | p.Y718C |
| KP4_PANCREAS | 26677999 | 26678101 | 26678090 | 26678090 | Missense_Mutation | C | G | p.L719V |
| MFHINO_SOFT_TISSUE | 26667584 | 26667816 | 26667616 | 26667616 | Nonsense_Mutation | G | A | p.W399* |
| NCIH2342_LUNG | 26673460 | 26673549 | 26673492 | 26673492 | Nonsense_Mutation | T | A | p.Y544* |
| SNUC5_LARGE_INTESTINE | 26677999 | 26678101 | 26678069 | 26678069 | Nonsense_Mutation | C | T | p.Q712* |
| NB1_AUTONOMIC_GANGLIA | 26667584 | 26667816 | 26667585 | 26667585 | Splice_Site | C | A | p.H389N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DRC1 |
| 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 DRC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DRC1 |
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RelatedDrugs for DRC1 |
| 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 DRC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DRC1 | C0022521 | Kartagener Syndrome | 1 | CTD_human;ORPHANET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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