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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 NCOA2 |
 Gene summary |
| Gene information | Gene symbol | NCOA2 | Gene ID | 10499 |
| Gene name | nuclear receptor coactivator 2 | |
| Synonyms | GRIP1|KAT13C|NCoA-2|SRC2|TIF2|bHLHe75 | |
| Cytomap | 8q13.3 | |
| Type of gene | protein-coding | |
| Description | nuclear receptor coactivator 2class E basic helix-loop-helix protein 75glucocorticoid receptor-interacting protein-1p160 steroid receptor coactivator 2transcriptional intermediary factor 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q15596 | |
| Context | PubMed: NCOA2 [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 NCOA2 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 NCOA2 |
| 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 NCOA2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490207 | 8 | 71025803:71025878:71033536:71033626:71036118:71036317 | 71033536:71033626 | ENSG00000140396.8 | ENST00000518363.2,ENST00000267974.4,ENST00000452400.2 |
| exon_skip_490209 | 8 | 71036922:71037100:71039047:71039282:71040667:71040745 | 71039047:71039282 | ENSG00000140396.8 | ENST00000518363.2,ENST00000267974.4,ENST00000452400.2,ENST00000518287.2 |
| exon_skip_490211 | 8 | 71053511:71053634:71056876:71057083:71060507:71060621 | 71056876:71057083 | ENSG00000140396.8 | ENST00000452400.2 |
| exon_skip_490214 | 8 | 71053418:71053634:71060507:71060718:71068205:71068875 | 71060507:71060718 | ENSG00000140396.8 | ENST00000518287.2 |
| exon_skip_490218 | 8 | 71056876:71057083:71060507:71060718:71068205:71068875 | 71060507:71060718 | ENSG00000140396.8 | ENST00000452400.2 |
| exon_skip_490225 | 8 | 71068205:71069475:71071739:71071887:71074945:71075089 | 71071739:71071887 | ENSG00000140396.8 | ENST00000452400.2,ENST00000518287.2 |
| exon_skip_490226 | 8 | 71082436:71082614:71086990:71087094:71126137:71126310 | 71086990:71087094 | ENSG00000140396.8 | ENST00000452400.2,ENST00000518287.2 |
| exon_skip_490229 | 8 | 71086990:71087094:71126137:71126310:71128894:71128999 | 71126137:71126310 | ENSG00000140396.8 | ENST00000452400.2,ENST00000518287.2 |
| exon_skip_490232 | 8 | 71126137:71126310:71128894:71128999:71208978:71209035 | 71128894:71128999 | ENSG00000140396.8 | ENST00000452400.2,ENST00000518287.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NCOA2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490207 | 8 | 71025803:71025878:71033536:71033626:71036118:71036317 | 71033536:71033626 | ENSG00000140396.8 | ENST00000452400.2,ENST00000518363.2,ENST00000267974.4 |
| exon_skip_490209 | 8 | 71036922:71037100:71039047:71039282:71040667:71040745 | 71039047:71039282 | ENSG00000140396.8 | ENST00000452400.2,ENST00000518287.2,ENST00000518363.2,ENST00000267974.4 |
| exon_skip_490211 | 8 | 71053511:71053634:71056876:71057083:71060507:71060621 | 71056876:71057083 | ENSG00000140396.8 | ENST00000452400.2 |
| exon_skip_490214 | 8 | 71053418:71053634:71060507:71060718:71068205:71068875 | 71060507:71060718 | ENSG00000140396.8 | ENST00000518287.2 |
| exon_skip_490218 | 8 | 71056876:71057083:71060507:71060718:71068205:71068875 | 71060507:71060718 | ENSG00000140396.8 | ENST00000452400.2 |
| exon_skip_490225 | 8 | 71068205:71069475:71071739:71071887:71074945:71075089 | 71071739:71071887 | ENSG00000140396.8 | ENST00000452400.2,ENST00000518287.2 |
| exon_skip_490226 | 8 | 71082436:71082614:71086990:71087094:71126137:71126310 | 71086990:71087094 | ENSG00000140396.8 | ENST00000452400.2,ENST00000518287.2 |
| exon_skip_490229 | 8 | 71086990:71087094:71126137:71126310:71128894:71128999 | 71126137:71126310 | ENSG00000140396.8 | ENST00000452400.2,ENST00000518287.2 |
| 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 NCOA2 |
| 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 |
| ENST00000452400 | 71128894 | 71128999 | 3UTR-3CDS |
| ENST00000452400 | 71039047 | 71039282 | Frame-shift |
| ENST00000452400 | 71060507 | 71060718 | Frame-shift |
| ENST00000452400 | 71071739 | 71071887 | Frame-shift |
| ENST00000452400 | 71086990 | 71087094 | Frame-shift |
| ENST00000452400 | 71126137 | 71126310 | Frame-shift |
| ENST00000452400 | 71033536 | 71033626 | In-frame |
| ENST00000452400 | 71056876 | 71057083 | 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 |
| ENST00000452400 | 71039047 | 71039282 | Frame-shift |
| ENST00000452400 | 71060507 | 71060718 | Frame-shift |
| ENST00000452400 | 71071739 | 71071887 | Frame-shift |
| ENST00000452400 | 71086990 | 71087094 | Frame-shift |
| ENST00000452400 | 71126137 | 71126310 | Frame-shift |
| ENST00000452400 | 71033536 | 71033626 | In-frame |
| ENST00000452400 | 71056876 | 71057083 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NCOA2 |
| 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 |
| ENST00000452400 | 8464 | 1464 | 71056876 | 71057083 | 2788 | 2994 | 868 | 937 |
| ENST00000452400 | 8464 | 1464 | 71033536 | 71033626 | 4476 | 4565 | 1431 | 1461 |
| 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 |
| ENST00000452400 | 8464 | 1464 | 71056876 | 71057083 | 2788 | 2994 | 868 | 937 |
| ENST00000452400 | 8464 | 1464 | 71033536 | 71033626 | 4476 | 4565 | 1431 | 1461 |
| 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 |
| Q15596 | 868 | 937 | 2 | 1464 | Chain | ID=PRO_0000094402;Note=Nuclear receptor coactivator 2 |
| Q15596 | 868 | 937 | 874 | 874 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61026 |
| Q15596 | 868 | 937 | 878 | 882 | Motif | Note=LXXLL motif 4 |
| Q15596 | 868 | 937 | 730 | 1121 | Region | Note=Interaction with ARNTL;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61026 |
| Q15596 | 868 | 937 | 869 | 870 | Site | Note=Breakpoint for translocation to form KAT6A-NCOA2;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12676584,ECO:0000269|PubMed:15657427,ECO:0000269|PubMed:9558366;Dbxref=PMID:12676584,PMID:15657427,PMID:9558366 |
| Q15596 | 1431 | 1461 | 2 | 1464 | Chain | ID=PRO_0000094402;Note=Nuclear receptor coactivator 2 |
| Q15596 | 1431 | 1461 | 1454 | 1454 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| 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 |
| Q15596 | 868 | 937 | 2 | 1464 | Chain | ID=PRO_0000094402;Note=Nuclear receptor coactivator 2 |
| Q15596 | 868 | 937 | 874 | 874 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61026 |
| Q15596 | 868 | 937 | 878 | 882 | Motif | Note=LXXLL motif 4 |
| Q15596 | 868 | 937 | 730 | 1121 | Region | Note=Interaction with ARNTL;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61026 |
| Q15596 | 868 | 937 | 869 | 870 | Site | Note=Breakpoint for translocation to form KAT6A-NCOA2;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12676584,ECO:0000269|PubMed:15657427,ECO:0000269|PubMed:9558366;Dbxref=PMID:12676584,PMID:15657427,PMID:9558366 |
| Q15596 | 1431 | 1461 | 2 | 1464 | Chain | ID=PRO_0000094402;Note=Nuclear receptor coactivator 2 |
| Q15596 | 1431 | 1461 | 1454 | 1454 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
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SNVs in the skipped exons for NCOA2 |
| - 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 |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_490211 | 71056877 | 71057083 | 71056964 | 71056964 | Frame_Shift_Del | T | - | p.S909fs |
| UCEC | TCGA-FI-A2EW-01 | exon_skip_490218 exon_skip_490214 | 71060508 | 71060718 | 71060520 | 71060520 | Frame_Shift_Del | T | - | p.I865fs |
| PAAD | TCGA-HZ-8005-01 | exon_skip_490225 | 71071740 | 71071887 | 71071800 | 71071803 | Frame_Shift_Del | AGTT | - | p.354_355del |
| PAAD | TCGA-HZ-8005-01 | exon_skip_490225 | 71071740 | 71071887 | 71071800 | 71071803 | Frame_Shift_Del | AGTT | - | p.KL354fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_490225 | 71071740 | 71071887 | 71071846 | 71071846 | Frame_Shift_Del | A | - | p.S340fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_490226 | 71086991 | 71087094 | 71087031 | 71087031 | Frame_Shift_Del | C | - | p.G108fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_490229 | 71126138 | 71126310 | 71126145 | 71126145 | Frame_Shift_Del | T | - | p.K84fs |
| LUAD | TCGA-05-4434-01 | exon_skip_490229 | 71126138 | 71126310 | 71126235 | 71126235 | Frame_Shift_Del | A | - | p.F54fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_490232 | 71128895 | 71128999 | 71128961 | 71128961 | Frame_Shift_Del | T | - | p.N7fs |
| KIRP | TCGA-A4-8098-01 | exon_skip_490209 | 71039048 | 71039282 | 71039066 | 71039067 | Frame_Shift_Ins | - | AAAC | p.F1299fs |
| KIRP | TCGA-A4-8098-01 | exon_skip_490209 | 71039048 | 71039282 | 71039066 | 71039067 | Frame_Shift_Ins | - | AAAC | p.FI1299fs |
| KIRP | TCGA-A4-8098-01 | exon_skip_490209 | 71039048 | 71039282 | 71039066 | 71039067 | Frame_Shift_Ins | - | AAAC | p.P1300fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_490218 exon_skip_490214 | 71060508 | 71060718 | 71060656 | 71060657 | Frame_Shift_Ins | - | G | p.P819fs |
| COAD | TCGA-D5-5541-01 | exon_skip_490209 | 71039048 | 71039282 | 71039198 | 71039198 | Nonsense_Mutation | G | A | p.Q1256X |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_490209 | 71039048 | 71039282 | 71039222 | 71039222 | Nonsense_Mutation | G | A | p.R1248* |
| GBM | TCGA-06-6697-01 | exon_skip_490211 | 71056877 | 71057083 | 71057069 | 71057069 | Nonsense_Mutation | G | A | p.R874* |
| LUSC | TCGA-22-5473-01 | exon_skip_490225 | 71071740 | 71071887 | 71071771 | 71071771 | Nonsense_Mutation | G | A | p.Q365* |
| STAD | TCGA-BR-8680-01 | exon_skip_490229 | 71126138 | 71126310 | 71126174 | 71126174 | Nonsense_Mutation | C | A | p.E75* |
| - 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 |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71033537 | 71033626 | 71033539 | 71033539 | Missense_Mutation | G | A | p.R1461W |
| KYSE450_OESOPHAGUS | 71033537 | 71033626 | 71033564 | 71033564 | Missense_Mutation | C | G | p.M1452I |
| MCC13_SKIN | 71039048 | 71039282 | 71039059 | 71039059 | Missense_Mutation | G | A | p.P1302L |
| DU4475_BREAST | 71039048 | 71039282 | 71039063 | 71039063 | Missense_Mutation | A | C | p.F1301V |
| CALU3_LUNG | 71039048 | 71039282 | 71039244 | 71039244 | Missense_Mutation | C | A | p.R1240S |
| CCK81_LARGE_INTESTINE | 71039048 | 71039282 | 71039246 | 71039246 | Missense_Mutation | T | C | p.R1240G |
| LU99_LUNG | 71039048 | 71039282 | 71039273 | 71039273 | Missense_Mutation | T | C | p.N1231D |
| SNU601_STOMACH | 71056877 | 71057083 | 71056879 | 71056879 | Missense_Mutation | G | T | p.T937K |
| CW2_LARGE_INTESTINE | 71056877 | 71057083 | 71056907 | 71056907 | Missense_Mutation | T | C | p.N928D |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71056877 | 71057083 | 71056912 | 71056912 | Missense_Mutation | A | G | p.I926T |
| RDES_BONE | 71056877 | 71057083 | 71057000 | 71057000 | Missense_Mutation | T | C | p.T897A |
| SNU1040_LARGE_INTESTINE | 71056877 | 71057083 | 71057027 | 71057027 | Missense_Mutation | G | A | p.P888S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 71060508 | 71060718 | 71060518 | 71060518 | Missense_Mutation | A | C | p.I865M |
| RKN_SOFT_TISSUE | 71060508 | 71060718 | 71060525 | 71060525 | Missense_Mutation | A | T | p.L863Q |
| HEC1A_ENDOMETRIUM | 71060508 | 71060718 | 71060525 | 71060525 | Missense_Mutation | A | T | p.L863Q |
| HEC1_ENDOMETRIUM | 71060508 | 71060718 | 71060525 | 71060525 | Missense_Mutation | A | T | p.L863Q |
| HEC1B_ENDOMETRIUM | 71060508 | 71060718 | 71060525 | 71060525 | Missense_Mutation | A | T | p.L863Q |
| LNCAPCLONEFGC_PROSTATE | 71060508 | 71060718 | 71060645 | 71060645 | Missense_Mutation | G | T | p.P823Q |
| LB2241EBV_MATCHED_NORMAL_TISSUE | 71071740 | 71071887 | 71071773 | 71071773 | Missense_Mutation | G | A | p.P364L |
| HCT116_LARGE_INTESTINE | 71071740 | 71071887 | 71071783 | 71071783 | Missense_Mutation | T | C | p.T361A |
| HRT18_LARGE_INTESTINE | 71071740 | 71071887 | 71071813 | 71071813 | Missense_Mutation | T | A | p.T351S |
| SLR25_KIDNEY | 71071740 | 71071887 | 71071816 | 71071816 | Missense_Mutation | G | C | p.Q350E |
| HCC1195_LUNG | 71071740 | 71071887 | 71071876 | 71071876 | Missense_Mutation | C | G | p.G330R |
| GOTO_AUTONOMIC_GANGLIA | 71086991 | 71087094 | 71087021 | 71087021 | Missense_Mutation | G | T | p.D111E |
| JHUEM7_ENDOMETRIUM | 71086991 | 71087094 | 71087023 | 71087023 | Missense_Mutation | C | T | p.D111N |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71126138 | 71126310 | 71126156 | 71126156 | Missense_Mutation | G | A | p.R81C |
| DBTRG05MG_CENTRAL_NERVOUS_SYSTEM | 71126138 | 71126310 | 71126243 | 71126243 | Missense_Mutation | A | T | p.L52M |
| SNU81_LARGE_INTESTINE | 71126138 | 71126310 | 71126266 | 71126266 | Missense_Mutation | T | G | p.K44T |
| MDAMB436_BREAST | 71128895 | 71128999 | 71128925 | 71128925 | Missense_Mutation | C | T | p.R19H |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71128895 | 71128999 | 71128925 | 71128925 | Missense_Mutation | C | T | p.R19H |
| CJM_SKIN | 71128895 | 71128999 | 71128938 | 71128938 | Missense_Mutation | C | T | p.E15K |
| HCC2998_LARGE_INTESTINE | 71039048 | 71039282 | 71039222 | 71039222 | Nonsense_Mutation | G | A | p.R1248* |
| SNGM_ENDOMETRIUM | 71056877 | 71057083 | 71057009 | 71057009 | Nonsense_Mutation | G | A | p.Q894* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NCOA2 |
| 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 NCOA2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NCOA2 |
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RelatedDrugs for NCOA2 |
| 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 |
| Q15596 | DB00255 | Diethylstilbestrol | Nuclear receptor coactivator 2 | small molecule | approved|investigational | |
| Q15596 | DB00783 | Estradiol | Nuclear receptor coactivator 2 | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for NCOA2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NCOA2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| NCOA2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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