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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 NR2C1 |
 Gene summary |
| Gene information | Gene symbol | NR2C1 | Gene ID | 7181 |
| Gene name | nuclear receptor subfamily 2 group C member 1 | |
| Synonyms | TR2 | |
| Cytomap | 12q22 | |
| Type of gene | protein-coding | |
| Description | nuclear receptor subfamily 2 group C member 1TR2 nuclear hormone receptornuclear receptor subfamily 2, group C isoformorphan nuclear receptor TR2 | |
| Modification date | 20180519 | |
| UniProtAcc | P13056 | |
| Context | PubMed: NR2C1 [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 NR2C1 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 NR2C1 |
| 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 NR2C1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95366 | 12 | 95416109:95416179:95418925:95419031:95422162:95422285 | 95418925:95419031 | ENSG00000120798.12 | ENST00000333003.5,ENST00000546416.1,ENST00000552861.1 |
| exon_skip_95368 | 12 | 95416109:95416179:95418925:95419031:95434251:95434373 | 95418925:95419031 | ENSG00000120798.12 | ENST00000551647.1 |
| exon_skip_95380 | 12 | 95418925:95419031:95422162:95422285:95425124:95425170 | 95422162:95422285 | ENSG00000120798.12 | ENST00000546416.1 |
| exon_skip_95384 | 12 | 95418925:95419031:95422162:95422300:95425124:95425170 | 95422162:95422300 | ENSG00000120798.12 | ENST00000333003.5 |
| exon_skip_95394 | 12 | 95422233:95422285:95425124:95425264:95442843:95443009 | 95425124:95425264 | ENSG00000120798.12 | ENST00000546416.1 |
| exon_skip_95396 | 12 | 95422233:95422285:95434251:95434373:95442843:95443009 | 95434251:95434373 | ENSG00000120798.12 | ENST00000545833.1 |
| exon_skip_95398 | 12 | 95422162:95422300:95425124:95425264:95434251:95434373 | 95425124:95425264 | ENSG00000120798.12 | ENST00000333003.5 |
| exon_skip_95401 | 12 | 95422162:95422300:95425124:95425264:95445537:95445645 | 95425124:95425264 | ENSG00000120798.12 | ENST00000547594.1 |
| exon_skip_95407 | 12 | 95425124:95425264:95434251:95434373:95442843:95443009 | 95434251:95434373 | ENSG00000120798.12 | ENST00000333003.5,ENST00000393101.3,ENST00000330677.7 |
| exon_skip_95409 | 12 | 95425124:95425264:95434251:95434373:95445537:95445565 | 95434251:95434373 | ENSG00000120798.12 | ENST00000552791.1 |
| exon_skip_95412 | 12 | 95434251:95434373:95442843:95443009:95445537:95445565 | 95442843:95443009 | ENSG00000120798.12 | ENST00000333003.5,ENST00000393101.3,ENST00000545833.1,ENST00000330677.7 |
| exon_skip_95423 | 12 | 95442903:95443009:95445537:95445719:95451328:95451419 | 95445537:95445719 | ENSG00000120798.12 | ENST00000333003.5,ENST00000393101.3,ENST00000545833.1,ENST00000548252.1,ENST00000552861.1,ENST00000330677.7 |
| exon_skip_95427 | 12 | 95452195:95452265:95453681:95453760:95456283:95456504 | 95453681:95453760 | ENSG00000120798.12 | ENST00000333003.5,ENST00000393101.3,ENST00000545833.1,ENST00000548966.1,ENST00000552861.1,ENST00000330677.7 |
| exon_skip_95430 | 12 | 95456283:95456514:95456625:95456663:95461106:95461146 | 95456625:95456663 | ENSG00000120798.12 | ENST00000552417.1,ENST00000551386.1 |
| exon_skip_95431 | 12 | 95456283:95456514:95461106:95461167:95467155:95467279 | 95461106:95461167 | ENSG00000120798.12 | ENST00000393101.3,ENST00000546367.1,ENST00000552861.1,ENST00000330677.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NR2C1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95366 | 12 | 95416109:95416179:95418925:95419031:95422162:95422285 | 95418925:95419031 | ENSG00000120798.12 | ENST00000333003.5,ENST00000552861.1,ENST00000546416.1 |
| exon_skip_95368 | 12 | 95416109:95416179:95418925:95419031:95434251:95434373 | 95418925:95419031 | ENSG00000120798.12 | ENST00000551647.1 |
| exon_skip_95380 | 12 | 95418925:95419031:95422162:95422285:95425124:95425170 | 95422162:95422285 | ENSG00000120798.12 | ENST00000546416.1 |
| exon_skip_95382 | 12 | 95418925:95419031:95422162:95422285:95442843:95443009 | 95422162:95422285 | ENSG00000120798.12 | ENST00000552861.1 |
| exon_skip_95384 | 12 | 95418925:95419031:95422162:95422300:95425124:95425170 | 95422162:95422300 | ENSG00000120798.12 | ENST00000333003.5 |
| exon_skip_95394 | 12 | 95422233:95422285:95425124:95425264:95442843:95443009 | 95425124:95425264 | ENSG00000120798.12 | ENST00000546416.1 |
| exon_skip_95396 | 12 | 95422233:95422285:95434251:95434373:95442843:95443009 | 95434251:95434373 | ENSG00000120798.12 | ENST00000545833.1 |
| exon_skip_95398 | 12 | 95422162:95422300:95425124:95425264:95434251:95434373 | 95425124:95425264 | ENSG00000120798.12 | ENST00000333003.5 |
| exon_skip_95401 | 12 | 95422162:95422300:95425124:95425264:95445537:95445645 | 95425124:95425264 | ENSG00000120798.12 | ENST00000547594.1 |
| exon_skip_95407 | 12 | 95425124:95425264:95434251:95434373:95442843:95443009 | 95434251:95434373 | ENSG00000120798.12 | ENST00000333003.5,ENST00000393101.3,ENST00000330677.7 |
| exon_skip_95409 | 12 | 95425124:95425264:95434251:95434373:95445537:95445565 | 95434251:95434373 | ENSG00000120798.12 | ENST00000552791.1 |
| exon_skip_95412 | 12 | 95434251:95434373:95442843:95443009:95445537:95445565 | 95442843:95443009 | ENSG00000120798.12 | ENST00000333003.5,ENST00000545833.1,ENST00000393101.3,ENST00000330677.7 |
| exon_skip_95423 | 12 | 95442903:95443009:95445537:95445719:95451328:95451419 | 95445537:95445719 | ENSG00000120798.12 | ENST00000333003.5,ENST00000552861.1,ENST00000545833.1,ENST00000393101.3,ENST00000330677.7,ENST00000548252.1 |
| exon_skip_95427 | 12 | 95452195:95452265:95453681:95453760:95456283:95456504 | 95453681:95453760 | ENSG00000120798.12 | ENST00000333003.5,ENST00000552861.1,ENST00000545833.1,ENST00000393101.3,ENST00000330677.7,ENST00000548966.1 |
| exon_skip_95430 | 12 | 95456283:95456514:95456625:95456663:95461106:95461146 | 95456625:95456663 | ENSG00000120798.12 | ENST00000552417.1,ENST00000551386.1 |
| exon_skip_95431 | 12 | 95456283:95456514:95461106:95461167:95467155:95467279 | 95461106:95461167 | ENSG00000120798.12 | ENST00000552861.1,ENST00000393101.3,ENST00000330677.7,ENST00000546367.1 |
| 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 NR2C1 |
| 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 |
| ENST00000333003 | 95418925 | 95419031 | Frame-shift |
| ENST00000333003 | 95425124 | 95425264 | Frame-shift |
| ENST00000333003 | 95434251 | 95434373 | Frame-shift |
| ENST00000333003 | 95442843 | 95443009 | Frame-shift |
| ENST00000333003 | 95445537 | 95445719 | Frame-shift |
| ENST00000333003 | 95453681 | 95453760 | Frame-shift |
| ENST00000333003 | 95422162 | 95422300 | 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 |
| ENST00000333003 | 95418925 | 95419031 | Frame-shift |
| ENST00000333003 | 95425124 | 95425264 | Frame-shift |
| ENST00000333003 | 95434251 | 95434373 | Frame-shift |
| ENST00000333003 | 95442843 | 95443009 | Frame-shift |
| ENST00000333003 | 95445537 | 95445719 | Frame-shift |
| ENST00000333003 | 95453681 | 95453760 | Frame-shift |
| ENST00000333003 | 95422162 | 95422300 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NR2C1 |
| 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 |
| ENST00000333003 | 4160 | 603 | 95422162 | 95422300 | 1725 | 1862 | 464 | 510 |
| 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 |
| ENST00000333003 | 4160 | 603 | 95422162 | 95422300 | 1725 | 1862 | 464 | 510 |
| 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 |
| P13056 | 464 | 510 | 465 | 467 | Alternative sequence | ID=VSP_036855;Note=In isoform 2. DKM->AEG;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2597158;Dbxref=PMID:15489334,PMID:2597158 |
| P13056 | 464 | 510 | 466 | 483 | Alternative sequence | ID=VSP_036856;Note=In isoform 3. KMSTERRKLLMEHIFKLQ->AKVIAALIHFTRRAITDL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3421977;Dbxref=PMID:3421977 |
| P13056 | 464 | 510 | 468 | 603 | Alternative sequence | ID=VSP_036857;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2597158;Dbxref=PMID:15489334,PMID:2597158 |
| P13056 | 464 | 510 | 484 | 603 | Alternative sequence | ID=VSP_036858;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3421977;Dbxref=PMID:3421977 |
| P13056 | 464 | 510 | 1 | 603 | Chain | ID=PRO_0000053586;Note=Nuclear receptor subfamily 2 group C member 1 |
| P13056 | 464 | 510 | 348 | 590 | Domain | Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189 |
| 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 |
| P13056 | 464 | 510 | 465 | 467 | Alternative sequence | ID=VSP_036855;Note=In isoform 2. DKM->AEG;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2597158;Dbxref=PMID:15489334,PMID:2597158 |
| P13056 | 464 | 510 | 466 | 483 | Alternative sequence | ID=VSP_036856;Note=In isoform 3. KMSTERRKLLMEHIFKLQ->AKVIAALIHFTRRAITDL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3421977;Dbxref=PMID:3421977 |
| P13056 | 464 | 510 | 468 | 603 | Alternative sequence | ID=VSP_036857;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2597158;Dbxref=PMID:15489334,PMID:2597158 |
| P13056 | 464 | 510 | 484 | 603 | Alternative sequence | ID=VSP_036858;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3421977;Dbxref=PMID:3421977 |
| P13056 | 464 | 510 | 1 | 603 | Chain | ID=PRO_0000053586;Note=Nuclear receptor subfamily 2 group C member 1 |
| P13056 | 464 | 510 | 348 | 590 | Domain | Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189 |
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SNVs in the skipped exons for NR2C1 |
| - 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 |
| STAD | TCGA-CD-8536-01 | exon_skip_95366 exon_skip_95368 | 95418926 | 95419031 | 95419000 | 95419001 | Frame_Shift_Del | TA | - | p.521_522del |
| STAD | TCGA-CD-8536-01 | exon_skip_95366 exon_skip_95368 | 95418926 | 95419031 | 95419000 | 95419001 | Frame_Shift_Del | TA | - | p.I521fs |
| STAD | TCGA-BR-8591-01 | exon_skip_95412 | 95442844 | 95443009 | 95442883 | 95442883 | Frame_Shift_Del | T | - | p.E365fs |
| ESCA | TCGA-L5-A43C-01 | exon_skip_95407 exon_skip_95409 exon_skip_95396 | 95434252 | 95434373 | 95434294 | 95434294 | Nonsense_Mutation | G | T | p.S404* |
| ESCA | TCGA-L5-A43C-01 | exon_skip_95407 exon_skip_95409 exon_skip_95396 | 95434252 | 95434373 | 95434294 | 95434294 | Nonsense_Mutation | G | T | p.S404X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_95431 | 95461107 | 95461167 | 95461145 | 95461145 | Nonsense_Mutation | C | A | p.E6* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_95431 | 95461107 | 95461167 | 95461145 | 95461145 | Nonsense_Mutation | C | A | p.E6X |
| - 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 |
| NCIH1666_LUNG | 95418926 | 95419031 | 95418980 | 95418980 | Missense_Mutation | G | A | p.A528V |
| MFE319_ENDOMETRIUM | 95418926 | 95419031 | 95419000 | 95419000 | Missense_Mutation | T | C | p.I521M |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95422163 | 95422285 | 95422223 | 95422223 | Missense_Mutation | T | C | p.K491E |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95422163 | 95422300 | 95422223 | 95422223 | Missense_Mutation | T | C | p.K491E |
| HEC59_ENDOMETRIUM | 95425125 | 95425264 | 95425179 | 95425179 | Missense_Mutation | C | T | p.V447I |
| MDAPCA2B_PROSTATE | 95425125 | 95425264 | 95425232 | 95425232 | Missense_Mutation | T | C | p.Y429C |
| NCIH1092_LUNG | 95434252 | 95434373 | 95434330 | 95434330 | Missense_Mutation | T | C | p.Y392C |
| RCCFG2_KIDNEY | 95442844 | 95443009 | 95442900 | 95442900 | Missense_Mutation | T | G | p.I359L |
| SISO_CERVIX | 95442844 | 95443009 | 95442944 | 95442944 | Missense_Mutation | G | A | p.A344V |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95442844 | 95443009 | 95442944 | 95442944 | Missense_Mutation | G | A | p.A344V |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95442844 | 95443009 | 95442988 | 95442988 | Missense_Mutation | T | G | p.K329N |
| MRKNU1_BREAST | 95445538 | 95445719 | 95445597 | 95445597 | Missense_Mutation | G | T | p.S302R |
| TE4_OESOPHAGUS | 95445538 | 95445719 | 95445629 | 95445629 | Missense_Mutation | T | A | p.S292C |
| DKMG_CENTRAL_NERVOUS_SYSTEM | 95445538 | 95445719 | 95445642 | 95445642 | Missense_Mutation | A | T | p.D287E |
| NCIH513_PLEURA | 95445538 | 95445719 | 95445677 | 95445677 | Missense_Mutation | C | A | p.V276F |
| SKMEL5_SKIN | 95453682 | 95453760 | 95453742 | 95453742 | Missense_Mutation | G | A | p.P102S |
| CHP134_AUTONOMIC_GANGLIA | 95425125 | 95425264 | 95425263 | 95425263 | Splice_Site | G | C | p.Q419E |
| RH30_SOFT_TISSUE | 95445538 | 95445719 | 95445719 | 95445719 | Splice_Site | C | A | p.A262S |
| PK45H_PANCREAS | 95461107 | 95461167 | 95461160 | 95461160 | Start_Codon_SNP | T | G | p.M1L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NR2C1 |
| 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 NR2C1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NR2C1 |
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RelatedDrugs for NR2C1 |
| 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 NR2C1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NR2C1 | C0014175 | Endometriosis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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