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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for TCERG1 |
Gene summary |
Gene information | Gene symbol | TCERG1 | Gene ID | 10915 |
Gene name | transcription elongation regulator 1 | |
Synonyms | CA150|TAF2S|Urn1 | |
Cytomap | 5q32 | |
Type of gene | protein-coding | |
Description | transcription elongation regulator 1TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kDTATA box-binding protein-associated factor 2Sco-activator of 150 kDatranscription factor CA150 | |
Modification date | 20180523 | |
UniProtAcc | O14776 | |
Context | PubMed: TCERG1 [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 |
TCERG1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 20956529 |
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Exon skipping events across known transcript of Ensembl for TCERG1 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 TCERG1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TCERG1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_438442 | 5 | 145826908:145826971:145834618:145834844:145836745:145836898 | 145834618:145834844 | ENSG00000113649.7 | ENST00000549332.1,ENST00000394421.2,ENST00000296702.5 |
exon_skip_438443 | 5 | 145836745:145836898:145838446:145838900:145843113:145843356 | 145838446:145838900 | ENSG00000113649.7 | ENST00000549332.1,ENST00000394421.2,ENST00000507175.1,ENST00000296702.5 |
exon_skip_438444 | 5 | 145838777:145838900:145841580:145841659:145843113:145843356 | 145841580:145841659 | ENSG00000113649.7 | ENST00000513298.1 |
exon_skip_438447 | 5 | 145843197:145843356:145847903:145847966:145849106:145849307 | 145847903:145847966 | ENSG00000113649.7 | ENST00000549332.1,ENST00000296702.5 |
exon_skip_438450 | 5 | 145859590:145859657:145860712:145860763:145862154:145862290 | 145860712:145860763 | ENSG00000113649.7 | ENST00000515203.1 |
exon_skip_438455 | 5 | 145872482:145872601:145878098:145878249:145882937:145883102 | 145878098:145878249 | ENSG00000113649.7 | ENST00000506524.1,ENST00000549332.1,ENST00000394421.2,ENST00000505285.1,ENST00000296702.5 |
exon_skip_438461 | 5 | 145883033:145883102:145883386:145883569:145886590:145886740 | 145883386:145883569 | ENSG00000113649.7 | ENST00000506524.1,ENST00000549332.1,ENST00000394421.2,ENST00000296702.5,ENST00000514719.1 |
exon_skip_438465 | 5 | 145886590:145886770:145887307:145887341:145887435:145887519 | 145887307:145887341 | ENSG00000113649.7 | ENST00000503741.1 |
exon_skip_438466 | 5 | 145888707:145888808:145889629:145889723:145890003:145890328 | 145889629:145889723 | ENSG00000113649.7 | ENST00000506524.1,ENST00000549332.1,ENST00000511077.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TCERG1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_438442 | 5 | 145826908:145826971:145834618:145834844:145836745:145836898 | 145834618:145834844 | ENSG00000113649.7 | ENST00000296702.5,ENST00000394421.2,ENST00000549332.1 |
exon_skip_438443 | 5 | 145836745:145836898:145838446:145838900:145843113:145843356 | 145838446:145838900 | ENSG00000113649.7 | ENST00000507175.1,ENST00000296702.5,ENST00000394421.2,ENST00000549332.1 |
exon_skip_438444 | 5 | 145838777:145838900:145841580:145841659:145843113:145843356 | 145841580:145841659 | ENSG00000113649.7 | ENST00000513298.1 |
exon_skip_438447 | 5 | 145843197:145843356:145847903:145847966:145849106:145849307 | 145847903:145847966 | ENSG00000113649.7 | ENST00000296702.5,ENST00000549332.1 |
exon_skip_438450 | 5 | 145859590:145859657:145860712:145860763:145862154:145862290 | 145860712:145860763 | ENSG00000113649.7 | ENST00000515203.1 |
exon_skip_438455 | 5 | 145872482:145872601:145878098:145878249:145882937:145883102 | 145878098:145878249 | ENSG00000113649.7 | ENST00000296702.5,ENST00000394421.2,ENST00000549332.1,ENST00000506524.1,ENST00000505285.1 |
exon_skip_438461 | 5 | 145883033:145883102:145883386:145883569:145886590:145886740 | 145883386:145883569 | ENSG00000113649.7 | ENST00000296702.5,ENST00000394421.2,ENST00000549332.1,ENST00000506524.1,ENST00000514719.1 |
exon_skip_438464 | 5 | 145883926:145884057:145885067:145885184:145886590:145886740 | 145885067:145885184 | ENSG00000113649.7 | ENST00000514567.1 |
exon_skip_438465 | 5 | 145886590:145886770:145887307:145887341:145887435:145887519 | 145887307:145887341 | ENSG00000113649.7 | ENST00000503741.1 |
exon_skip_438466 | 5 | 145888707:145888808:145889629:145889723:145890003:145890328 | 145889629:145889723 | ENSG00000113649.7 | ENST00000549332.1,ENST00000506524.1,ENST00000511077.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for TCERG1 |
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 |
ENST00000296702 | 145834618 | 145834844 | Frame-shift |
ENST00000296702 | 145838446 | 145838900 | Frame-shift |
ENST00000296702 | 145878098 | 145878249 | Frame-shift |
ENST00000296702 | 145847903 | 145847966 | In-frame |
ENST00000296702 | 145883386 | 145883569 | 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 |
ENST00000296702 | 145834618 | 145834844 | Frame-shift |
ENST00000296702 | 145838446 | 145838900 | Frame-shift |
ENST00000296702 | 145878098 | 145878249 | Frame-shift |
ENST00000296702 | 145847903 | 145847966 | In-frame |
ENST00000296702 | 145883386 | 145883569 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TCERG1 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000296702 | 4671 | 1098 | 145847903 | 145847966 | 1174 | 1236 | 378 | 399 |
ENST00000296702 | 4671 | 1098 | 145883386 | 145883569 | 2586 | 2768 | 849 | 910 |
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 |
ENST00000296702 | 4671 | 1098 | 145847903 | 145847966 | 1174 | 1236 | 378 | 399 |
ENST00000296702 | 4671 | 1098 | 145883386 | 145883569 | 2586 | 2768 | 849 | 910 |
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 |
O14776 | 378 | 399 | 379 | 399 | Alternative sequence | ID=VSP_026933;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
O14776 | 378 | 399 | 1 | 1098 | Chain | ID=PRO_0000076063;Note=Transcription elongation regulator 1 |
O14776 | 378 | 399 | 328 | 378 | Compositional bias | Note=Pro-rich |
O14776 | 849 | 910 | 888 | 890 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DOF |
O14776 | 849 | 910 | 1 | 1098 | Chain | ID=PRO_0000076063;Note=Transcription elongation regulator 1 |
O14776 | 849 | 910 | 844 | 906 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
O14776 | 849 | 910 | 896 | 952 | Domain | Note=FF 4 |
O14776 | 849 | 910 | 895 | 910 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4FQG |
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 |
O14776 | 378 | 399 | 379 | 399 | Alternative sequence | ID=VSP_026933;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
O14776 | 378 | 399 | 1 | 1098 | Chain | ID=PRO_0000076063;Note=Transcription elongation regulator 1 |
O14776 | 378 | 399 | 328 | 378 | Compositional bias | Note=Pro-rich |
O14776 | 849 | 910 | 888 | 890 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DOF |
O14776 | 849 | 910 | 1 | 1098 | Chain | ID=PRO_0000076063;Note=Transcription elongation regulator 1 |
O14776 | 849 | 910 | 844 | 906 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
O14776 | 849 | 910 | 896 | 952 | Domain | Note=FF 4 |
O14776 | 849 | 910 | 895 | 910 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4FQG |
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SNVs in the skipped exons for TCERG1 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
TCERG1_BRCA_exon_skip_438461_psi_boxplot.png |
TCERG1_COAD_exon_skip_438461_psi_boxplot.png |
TCERG1_SKCM_exon_skip_438461_psi_boxplot.png |
TCERG1_STAD_exon_skip_438461_psi_boxplot.png |
- 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-A39Y-01 | exon_skip_438442 | 145834619 | 145834844 | 145834659 | 145834659 | Frame_Shift_Del | C | - | p.P36fs |
LIHC | TCGA-DD-A3A1-01 | exon_skip_438442 | 145834619 | 145834844 | 145834772 | 145834772 | Frame_Shift_Del | T | - | p.P71fs |
UCEC | TCGA-BS-A0UF-01 | exon_skip_438443 | 145838447 | 145838900 | 145838893 | 145838911 | Frame_Shift_Del | AGTATCAAGTGAGTACCAC | - | p.V296fs |
BRCA | TCGA-EW-A1IZ-01 | exon_skip_438461 | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.E892fs |
COAD | TCGA-AD-6964-01 | exon_skip_438461 | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.868_868del |
COAD | TCGA-G4-6628-01 | exon_skip_438461 | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.868_868del |
STAD | TCGA-HF-A5NB-01 | exon_skip_438461 | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.889_889del |
STAD | TCGA-HF-A5NB-01 | exon_skip_438461 | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.R889fs |
UCEC | TCGA-A5-A0GA-01 | exon_skip_438461 | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.E892fs |
UCEC | TCGA-A5-A0GA-01 | exon_skip_438461 | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.R889fs |
UCEC | TCGA-D1-A101-01 | exon_skip_438461 | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.R889fs |
STAD | TCGA-BR-4201-01 | exon_skip_438461 | 145883387 | 145883569 | 145883504 | 145883505 | Frame_Shift_Ins | - | GA | p.R889fs |
STAD | TCGA-BR-4201-01 | exon_skip_438461 | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Ins | - | GA | p.R889fs |
ACC | TCGA-PK-A5HB-01 | exon_skip_438442 | 145834619 | 145834844 | 145834680 | 145834680 | Nonsense_Mutation | C | T | p.R41* |
ACC | TCGA-PK-A5HB-01 | exon_skip_438442 | 145834619 | 145834844 | 145834680 | 145834680 | Nonsense_Mutation | C | T | p.R41X |
LUAD | TCGA-86-8585-01 | exon_skip_438443 | 145838447 | 145838900 | 145838696 | 145838696 | Nonsense_Mutation | C | T | p.Q230* |
PAAD | TCGA-IB-7651-01 | exon_skip_438455 | 145878099 | 145878249 | 145878172 | 145878172 | Nonsense_Mutation | C | T | p.R769* |
PAAD | TCGA-IB-7651-01 | exon_skip_438455 | 145878099 | 145878249 | 145878172 | 145878172 | Nonsense_Mutation | C | T | p.R769X |
SKCM | TCGA-DA-A1I4-06 | exon_skip_438461 | 145883387 | 145883569 | 145883447 | 145883447 | Nonsense_Mutation | C | T | p.R849X |
SKCM | TCGA-DA-A1I4-06 | exon_skip_438461 | 145883387 | 145883569 | 145883447 | 145883447 | Nonsense_Mutation | C | T | p.R870* |
UCEC | TCGA-D1-A17Q-01 | exon_skip_438461 | 145883387 | 145883569 | 145883447 | 145883447 | Nonsense_Mutation | C | T | p.R870* |
COAD | TCGA-G4-6302-01 | exon_skip_438461 | 145883387 | 145883569 | 145883453 | 145883453 | Nonsense_Mutation | C | T | p.R851X |
READ | TCGA-AG-A002-01 | exon_skip_438461 | 145883387 | 145883569 | 145883531 | 145883531 | Nonsense_Mutation | G | T | p.E877X |
KIRC | TCGA-B0-5085-01 | exon_skip_438455 | 145878099 | 145878249 | 145878250 | 145878250 | Splice_Site | G | A | . |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
OC316_OVARY | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.R889fs |
HEC59_ENDOMETRIUM | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.R889fs |
CAL51_BREAST | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.R889fs |
GP2D_LARGE_INTESTINE | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.R889fs |
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.R889fs |
GP5D_LARGE_INTESTINE | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.R889fs |
OC314_OVARY | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.R889fs |
TGBC11TKB_STOMACH | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.R889fs |
LS411N_LARGE_INTESTINE | 145883387 | 145883569 | 145883505 | 145883506 | Frame_Shift_Del | GA | - | p.R889fs |
DAOY_CENTRAL_NERVOUS_SYSTEM | 145838447 | 145838900 | 145838624 | 145838635 | In_Frame_Del | CAGGCTCAGGCT | - | p.QAQA238del |
NCIH508_LARGE_INTESTINE | 145838447 | 145838900 | 145838707 | 145838709 | In_Frame_Del | ACA | - | p.Q234del |
NCCSTCK140_STOMACH | 145838447 | 145838900 | 145838557 | 145838558 | In_Frame_Ins | - | CAGGCTCAGGCCCAGGCG | p.184_184Q>QAQAQAQ |
SNU175_LARGE_INTESTINE | 145834619 | 145834844 | 145834623 | 145834623 | Missense_Mutation | G | A | p.A22T |
VMCUB1_URINARY_TRACT | 145834619 | 145834844 | 145834659 | 145834659 | Missense_Mutation | C | T | p.P34S |
SARC9371_BONE | 145834619 | 145834844 | 145834663 | 145834663 | Missense_Mutation | C | T | p.P35L |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145834619 | 145834844 | 145834764 | 145834764 | Missense_Mutation | C | T | p.R69C |
EW18_BONE | 145834619 | 145834844 | 145834794 | 145834794 | Missense_Mutation | A | T | p.M79L |
LS411N_LARGE_INTESTINE | 145838447 | 145838900 | 145838480 | 145838480 | Missense_Mutation | G | A | p.A158T |
DIFI_LARGE_INTESTINE | 145838447 | 145838900 | 145838526 | 145838526 | Missense_Mutation | T | A | p.L173Q |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145838447 | 145838900 | 145838528 | 145838528 | Missense_Mutation | A | T | p.T174S |
A101D_SKIN | 145838447 | 145838900 | 145838543 | 145838543 | Missense_Mutation | G | T | p.A179S |
HEC1A_ENDOMETRIUM | 145838447 | 145838900 | 145838561 | 145838561 | Missense_Mutation | G | A | p.A185T |
SNU81_LARGE_INTESTINE | 145838447 | 145838900 | 145838561 | 145838561 | Missense_Mutation | G | A | p.A185T |
HEC59_ENDOMETRIUM | 145838447 | 145838900 | 145838610 | 145838610 | Missense_Mutation | C | T | p.A201V |
SNUC1_LARGE_INTESTINE | 145838447 | 145838900 | 145838698 | 145838698 | Missense_Mutation | G | C | p.Q230H |
NCIH2887_LUNG | 145838447 | 145838900 | 145838829 | 145838829 | Missense_Mutation | C | A | p.T274K |
NCIH1437_LUNG | 145838447 | 145838900 | 145838829 | 145838829 | Missense_Mutation | C | A | p.T274K |
NCIBL1437_MATCHED_NORMAL_TISSUE | 145838447 | 145838900 | 145838829 | 145838829 | Missense_Mutation | C | A | p.T274K |
HEC151_ENDOMETRIUM | 145838447 | 145838900 | 145838886 | 145838886 | Missense_Mutation | C | T | p.A293V |
LNCAPCLONEFGC_PROSTATE | 145847904 | 145847966 | 145847930 | 145847930 | Missense_Mutation | T | A | p.C388S |
HCC2998_LARGE_INTESTINE | 145878099 | 145878249 | 145878173 | 145878173 | Missense_Mutation | G | A | p.R769Q |
KYSE220_OESOPHAGUS | 145878099 | 145878249 | 145878192 | 145878192 | Missense_Mutation | G | T | p.E775D |
JHUEM7_ENDOMETRIUM | 145883387 | 145883569 | 145883448 | 145883448 | Missense_Mutation | G | A | p.R870Q |
KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145838447 | 145838900 | 145838756 | 145838756 | Nonsense_Mutation | C | T | p.Q250* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TCERG1 |
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 TCERG1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TCERG1 |
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RelatedDrugs for TCERG1 |
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 TCERG1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |