|
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | 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 TOP2A |
Gene summary |
| Gene information | Gene symbol | TOP2A | Gene ID | 7153 |
| Gene name | DNA topoisomerase II alpha | |
| Synonyms | TOP2|TP2A | |
| Cytomap | 17q21.2 | |
| Type of gene | protein-coding | |
| Description | DNA topoisomerase 2-alphaDNA gyraseDNA topoisomerase (ATP-hydrolyzing)DNA topoisomerase II, 170 kDDNA topoisomerase II, alpha isozymetopoisomerase (DNA) II alpha 170kDa | |
| Modification date | 20180523 | |
| UniProtAcc | P11388 | |
| Context | PubMed: TOP2A [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 |
| TOP2A | GO:0006265 | DNA topological change | 22323612 |
| TOP2A | GO:0006266 | DNA ligation | 15491148 |
| TOP2A | GO:0006974 | cellular response to DNA damage stimulus | 16611985 |
| TOP2A | GO:0030263 | apoptotic chromosome condensation | 10959840 |
| TOP2A | GO:0043065 | positive regulation of apoptotic process | 16611985 |
Top |
Exon skipping events across known transcript of Ensembl for TOP2A 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. |
![]() |
Top |
Gene isoform structures and expression levels for TOP2A |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for TOP2A |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_289192 | 17 | 38547758:38547892:38548319:38548363:38548469:38548593 | 38548319:38548363 | ENSG00000131747.10 | ENST00000423485.1 |
| exon_skip_289195 | 17 | 38548836:38548989:38551700:38551791:38552534:38552717 | 38551700:38551791 | ENSG00000131747.10 | ENST00000423485.1 |
| exon_skip_289198 | 17 | 38551700:38551791:38552534:38552717:38554809:38554893 | 38552534:38552717 | ENSG00000131747.10 | ENST00000423485.1 |
| exon_skip_289199 | 17 | 38556460:38556661:38556780:38556915:38557101:38557333 | 38556780:38556915 | ENSG00000131747.10 | ENST00000423485.1 |
| exon_skip_289200 | 17 | 38560628:38560743:38561042:38561135:38562635:38562745 | 38561042:38561135 | ENSG00000131747.10 | ENST00000423485.1 |
| exon_skip_289201 | 17 | 38563800:38563926:38564218:38564376:38564743:38564882 | 38564218:38564376 | ENSG00000131747.10 | ENST00000423485.1 |
| exon_skip_289202 | 17 | 38564743:38564882:38567360:38567498:38567605:38567707 | 38567360:38567498 | ENSG00000131747.10 | ENST00000423485.1 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for TOP2A |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_289192 | 17 | 38547758:38547892:38548319:38548363:38548469:38548593 | 38548319:38548363 | ENSG00000131747.10 | ENST00000423485.1 |
| exon_skip_289195 | 17 | 38548836:38548989:38551700:38551791:38552534:38552717 | 38551700:38551791 | ENSG00000131747.10 | ENST00000423485.1 |
| exon_skip_289198 | 17 | 38551700:38551791:38552534:38552717:38554809:38554893 | 38552534:38552717 | ENSG00000131747.10 | ENST00000423485.1 |
| exon_skip_289199 | 17 | 38556460:38556661:38556780:38556915:38557101:38557333 | 38556780:38556915 | ENSG00000131747.10 | ENST00000423485.1 |
| exon_skip_289200 | 17 | 38560628:38560743:38561042:38561135:38562635:38562745 | 38561042:38561135 | ENSG00000131747.10 | ENST00000423485.1 |
| exon_skip_289201 | 17 | 38563800:38563926:38564218:38564376:38564743:38564882 | 38564218:38564376 | ENSG00000131747.10 | ENST00000423485.1 |
| exon_skip_289202 | 17 | 38564743:38564882:38567360:38567498:38567605:38567707 | 38567360:38567498 | ENSG00000131747.10 | ENST00000423485.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TOP2A |
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 |
| ENST00000423485 | 38548319 | 38548363 | Frame-shift |
| ENST00000423485 | 38551700 | 38551791 | Frame-shift |
| ENST00000423485 | 38564218 | 38564376 | Frame-shift |
| ENST00000423485 | 38552534 | 38552717 | In-frame |
| ENST00000423485 | 38556780 | 38556915 | In-frame |
| ENST00000423485 | 38561042 | 38561135 | In-frame |
| ENST00000423485 | 38567360 | 38567498 | 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 |
| ENST00000423485 | 38548319 | 38548363 | Frame-shift |
| ENST00000423485 | 38551700 | 38551791 | Frame-shift |
| ENST00000423485 | 38564218 | 38564376 | Frame-shift |
| ENST00000423485 | 38552534 | 38552717 | In-frame |
| ENST00000423485 | 38556780 | 38556915 | In-frame |
| ENST00000423485 | 38561042 | 38561135 | In-frame |
| ENST00000423485 | 38567360 | 38567498 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for TOP2A |
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 |
| ENST00000423485 | 5775 | 1531 | 38567360 | 38567498 | 1225 | 1362 | 355 | 401 |
| ENST00000423485 | 5775 | 1531 | 38561042 | 38561135 | 2113 | 2205 | 651 | 682 |
| ENST00000423485 | 5775 | 1531 | 38556780 | 38556915 | 2824 | 2958 | 888 | 933 |
| ENST00000423485 | 5775 | 1531 | 38552534 | 38552717 | 3697 | 3879 | 1179 | 1240 |
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 |
| ENST00000423485 | 5775 | 1531 | 38567360 | 38567498 | 1225 | 1362 | 355 | 401 |
| ENST00000423485 | 5775 | 1531 | 38561042 | 38561135 | 2113 | 2205 | 651 | 682 |
| ENST00000423485 | 5775 | 1531 | 38556780 | 38556915 | 2824 | 2958 | 888 | 933 |
| ENST00000423485 | 5775 | 1531 | 38552534 | 38552717 | 3697 | 3879 | 1179 | 1240 |
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 |
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 |
Top |
SNVs in the skipped exons for TOP2A |
- 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. |
- 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-A1EG-01 | exon_skip_289195 | 38551701 | 38551791 | 38551710 | 38551710 | Frame_Shift_Del | T | - | p.R1268fs |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_289195 | 38551701 | 38551791 | 38551735 | 38551735 | Frame_Shift_Del | T | - | p.K1259fs |
| UCEC | TCGA-A5-A0GW-01 | exon_skip_289198 | 38552535 | 38552717 | 38552642 | 38552642 | Frame_Shift_Del | T | - | p.T1205fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_289198 | 38552535 | 38552717 | 38552661 | 38552661 | Frame_Shift_Del | C | - | p.G1198fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_289198 | 38552535 | 38552717 | 38552661 | 38552661 | Frame_Shift_Del | C | - | p.K1199fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_289198 | 38552535 | 38552717 | 38552697 | 38552697 | Frame_Shift_Del | T | - | p.K1186fs |
| UCEC | TCGA-BG-A0M4-01 | exon_skip_289198 | 38552535 | 38552717 | 38552660 | 38552661 | Frame_Shift_Ins | - | C | p.G1198fs |
| BLCA | TCGA-G2-A2ES-01 | exon_skip_289201 | 38564219 | 38564376 | 38564250 | 38564251 | Frame_Shift_Ins | - | T | p.I490fs |
| UCEC | TCGA-AP-A059-01 | exon_skip_289201 | 38564219 | 38564376 | 38564257 | 38564257 | Nonsense_Mutation | C | A | p.G488* |
| LIHC | TCGA-WQ-A9G7-01 | exon_skip_289201 | 38564219 | 38564376 | 38564371 | 38564371 | Nonsense_Mutation | G | A | p.R450X |
- 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 |
| SISO_CERVIX | 38552535 | 38552717 | 38552642 | 38552642 | Frame_Shift_Del | T | - | p.T1205fs |
| HEC151_ENDOMETRIUM | 38552535 | 38552717 | 38552642 | 38552642 | Frame_Shift_Del | T | - | p.T1205fs |
| IM95_STOMACH | 38552535 | 38552717 | 38552642 | 38552642 | Frame_Shift_Del | T | - | p.T1205fs |
| LS180_LARGE_INTESTINE | 38552535 | 38552717 | 38552642 | 38552642 | Frame_Shift_Del | T | - | p.T1205fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38552535 | 38552717 | 38552642 | 38552642 | Frame_Shift_Del | T | - | p.T1205fs |
| HEC59_ENDOMETRIUM | 38552535 | 38552717 | 38552661 | 38552661 | Frame_Shift_Del | C | - | p.G1198fs |
| HCT116_LARGE_INTESTINE | 38561043 | 38561135 | 38561120 | 38561121 | Frame_Shift_Ins | - | T | p.Q657fs |
| HCC2998_LARGE_INTESTINE | 38552535 | 38552717 | 38552637 | 38552637 | Missense_Mutation | T | G | p.Q1206H |
| ES5_BONE | 38552535 | 38552717 | 38552663 | 38552663 | Missense_Mutation | C | T | p.G1198R |
| NCIH1734_LUNG | 38552535 | 38552717 | 38552668 | 38552668 | Missense_Mutation | T | A | p.K1196I |
| RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38552535 | 38552717 | 38552681 | 38552681 | Missense_Mutation | C | T | p.G1192R |
| HS683_CENTRAL_NERVOUS_SYSTEM | 38556781 | 38556915 | 38556791 | 38556791 | Missense_Mutation | G | A | p.T930I |
| SISO_CERVIX | 38556781 | 38556915 | 38556872 | 38556872 | Missense_Mutation | G | T | p.A903D |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38556781 | 38556915 | 38556872 | 38556872 | Missense_Mutation | G | T | p.A903D |
| KPNRTBM1_AUTONOMIC_GANGLIA | 38561043 | 38561135 | 38561065 | 38561065 | Missense_Mutation | C | T | p.R675Q |
| SNU719_STOMACH | 38561043 | 38561135 | 38561086 | 38561086 | Missense_Mutation | A | T | p.F668Y |
| SNU1040_LARGE_INTESTINE | 38564219 | 38564376 | 38564248 | 38564248 | Missense_Mutation | G | T | p.L491I |
| SNU1040_LARGE_INTESTINE | 38564219 | 38564376 | 38564310 | 38564310 | Missense_Mutation | A | G | p.V470A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 38567361 | 38567498 | 38567411 | 38567411 | Missense_Mutation | G | C | p.P385A |
| SKUT1_SOFT_TISSUE | 38567361 | 38567498 | 38567474 | 38567474 | Missense_Mutation | C | G | p.V364L |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38561043 | 38561135 | 38561066 | 38561066 | Nonsense_Mutation | G | A | p.R675* |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38561043 | 38561135 | 38561120 | 38561120 | Nonsense_Mutation | G | A | p.Q657* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TOP2A |
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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TOP2A |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TOP2A |
Top |
RelatedDrugs for TOP2A |
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 |
| P11388 | DB00385 | Valrubicin | DNA topoisomerase 2-alpha | small molecule | approved | |
| P11388 | DB00444 | Teniposide | DNA topoisomerase 2-alpha | small molecule | approved | |
| P11388 | DB00445 | Epirubicin | DNA topoisomerase 2-alpha | small molecule | approved | |
| P11388 | DB00487 | Pefloxacin | DNA topoisomerase 2-alpha | small molecule | approved | |
| P11388 | DB00694 | Daunorubicin | DNA topoisomerase 2-alpha | small molecule | approved | |
| P11388 | DB00773 | Etoposide | DNA topoisomerase 2-alpha | small molecule | approved | |
| P11388 | DB01059 | Norfloxacin | DNA topoisomerase 2-alpha | small molecule | approved | |
| P11388 | DB01165 | Ofloxacin | DNA topoisomerase 2-alpha | small molecule | approved | |
| P11388 | DB01177 | Idarubicin | DNA topoisomerase 2-alpha | small molecule | approved | |
| P11388 | DB01179 | Podofilox | DNA topoisomerase 2-alpha | small molecule | approved | |
| P11388 | DB00218 | Moxifloxacin | DNA topoisomerase 2-alpha | small molecule | approved|investigational | |
| P11388 | DB00276 | Amsacrine | DNA topoisomerase 2-alpha | small molecule | approved|investigational | |
| P11388 | DB00467 | Enoxacin | DNA topoisomerase 2-alpha | small molecule | approved|investigational | |
| P11388 | DB00537 | Ciprofloxacin | DNA topoisomerase 2-alpha | small molecule | approved|investigational | |
| P11388 | DB00970 | Dactinomycin | DNA topoisomerase 2-alpha | small molecule | approved|investigational | |
| P11388 | DB00978 | Lomefloxacin | DNA topoisomerase 2-alpha | small molecule | approved|investigational | |
| P11388 | DB00997 | Doxorubicin | DNA topoisomerase 2-alpha | small molecule | approved|investigational | |
| P11388 | DB01137 | Levofloxacin | DNA topoisomerase 2-alpha | small molecule | approved|investigational | |
| P11388 | DB01204 | Mitoxantrone | DNA topoisomerase 2-alpha | small molecule | approved|investigational | |
| P11388 | DB00685 | Trovafloxacin | DNA topoisomerase 2-alpha | small molecule | approved|investigational|withdrawn | |
| P11388 | DB01208 | Sparfloxacin | DNA topoisomerase 2-alpha | small molecule | approved|investigational|withdrawn | |
| P11388 | DB00380 | Dexrazoxane | DNA topoisomerase 2-alpha | small molecule | approved|withdrawn |
Top |
RelatedDiseases for TOP2A |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TOP2A | C1458155 | Mammary Neoplasms | 4 | CTD_human |
| TOP2A | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| TOP2A | C0017638 | Glioma | 1 | CTD_human |
| TOP2A | C0023418 | leukemia | 1 | CTD_human |
| TOP2A | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| TOP2A | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| TOP2A | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| TOP2A | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |