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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 ANAPC1 |
 Gene summary |
| Gene information | Gene symbol | ANAPC1 | Gene ID | 64682 |
| Gene name | anaphase promoting complex subunit 1 | |
| Synonyms | APC1|MCPR|TSG24 | |
| Cytomap | 2q13 | |
| Type of gene | protein-coding | |
| Description | anaphase-promoting complex subunit 1anaphase-promoting complex 1 (meiotic checkpoint regulator)cyclosome subunit 1mitotic checkpoint regulatortestis-specific gene 24 protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H1A4 | |
| Context | PubMed: ANAPC1 [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 |
| ANAPC1 | GO:0070979 | protein K11-linked ubiquitination | 18485873 |
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Exon skipping events across known transcript of Ensembl for ANAPC1 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 ANAPC1 |
| 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 ANAPC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_342559 | 2 | 112536251:112536347:112537875:112537962:112539945:112540084 | 112537875:112537962 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342561 | 2 | 112545810:112545897:112549938:112550132:112551654:112551708 | 112549938:112550132 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342564 | 2 | 112549947:112550132:112551654:112551708:112551809:112551900 | 112551654:112551708 | ENSG00000153107.7 | ENST00000464695.1,ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342565 | 2 | 112552394:112552471:112558373:112558448:112560004:112560083 | 112558373:112558448 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342566 | 2 | 112561281:112561416:112563378:112563470:112566523:112566758 | 112563378:112563470 | ENSG00000153107.7 | ENST00000427997.1,ENST00000485325.1,ENST00000341068.3 |
| exon_skip_342567 | 2 | 112572946:112573218:112576416:112576535:112578815:112579030 | 112576416:112576535 | ENSG00000153107.7 | ENST00000427997.1,ENST00000485325.1,ENST00000341068.3 |
| exon_skip_342570 | 2 | 112576416:112576535:112578815:112579030:112579998:112580177 | 112578815:112579030 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342573 | 2 | 112579998:112580177:112582542:112582613:112582707:112582744 | 112582542:112582613 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342577 | 2 | 112582542:112582613:112582707:112582744:112583353:112583432 | 112582707:112582744 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342580 | 2 | 112583353:112583432:112588862:112589011:112590796:112590888 | 112588862:112589011 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342581 | 2 | 112588862:112589011:112590796:112590888:112592180:112592449 | 112590796:112590888 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342583 | 2 | 112619965:112620175:112621251:112621472:112622382:112622528 | 112621251:112621472 | ENSG00000153107.7 | ENST00000341068.3 |
| exon_skip_342584 | 2 | 112621251:112621472:112622382:112622528:112625599:112625673 | 112622382:112622528 | ENSG00000153107.7 | ENST00000341068.3 |
| exon_skip_342587 | 2 | 112622382:112622528:112625599:112625673:112630206:112630289 | 112625599:112625673 | ENSG00000153107.7 | ENST00000341068.3 |
| exon_skip_342590 | 2 | 112630884:112630985:112631189:112631241:112636386:112636543 | 112631189:112631241 | ENSG00000153107.7 | ENST00000489177.1,ENST00000341068.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ANAPC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_342559 | 2 | 112536251:112536347:112537875:112537962:112539945:112540084 | 112537875:112537962 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342561 | 2 | 112545810:112545897:112549938:112550132:112551654:112551708 | 112549938:112550132 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342564 | 2 | 112549947:112550132:112551654:112551708:112551809:112551900 | 112551654:112551708 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3,ENST00000464695.1 |
| exon_skip_342565 | 2 | 112552394:112552471:112558373:112558448:112560004:112560083 | 112558373:112558448 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342566 | 2 | 112561281:112561416:112563378:112563470:112566523:112566758 | 112563378:112563470 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3,ENST00000485325.1 |
| exon_skip_342567 | 2 | 112572946:112573218:112576416:112576535:112578815:112579030 | 112576416:112576535 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3,ENST00000485325.1 |
| exon_skip_342570 | 2 | 112576416:112576535:112578815:112579030:112579998:112580177 | 112578815:112579030 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342573 | 2 | 112579998:112580177:112582542:112582613:112582707:112582744 | 112582542:112582613 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342577 | 2 | 112582542:112582613:112582707:112582744:112583353:112583432 | 112582707:112582744 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342581 | 2 | 112588862:112589011:112590796:112590888:112592180:112592449 | 112590796:112590888 | ENSG00000153107.7 | ENST00000427997.1,ENST00000341068.3 |
| exon_skip_342583 | 2 | 112619965:112620175:112621251:112621472:112622382:112622528 | 112621251:112621472 | ENSG00000153107.7 | ENST00000341068.3 |
| exon_skip_342584 | 2 | 112621251:112621472:112622382:112622528:112625599:112625673 | 112622382:112622528 | ENSG00000153107.7 | ENST00000341068.3 |
| exon_skip_342587 | 2 | 112622382:112622528:112625599:112625673:112630206:112630289 | 112625599:112625673 | ENSG00000153107.7 | ENST00000341068.3 |
| exon_skip_342588 | 2 | 112630206:112630289:112630884:112630985:112631189:112631241 | 112630884:112630985 | ENSG00000153107.7 | ENST00000341068.3 |
| exon_skip_342590 | 2 | 112630884:112630985:112631189:112631241:112636386:112636543 | 112631189:112631241 | ENSG00000153107.7 | ENST00000341068.3,ENST00000489177.1 |
| 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 ANAPC1 |
| 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 |
| ENST00000341068 | 112549938 | 112550132 | Frame-shift |
| ENST00000341068 | 112563378 | 112563470 | Frame-shift |
| ENST00000341068 | 112576416 | 112576535 | Frame-shift |
| ENST00000341068 | 112578815 | 112579030 | Frame-shift |
| ENST00000341068 | 112582542 | 112582613 | Frame-shift |
| ENST00000341068 | 112582707 | 112582744 | Frame-shift |
| ENST00000341068 | 112588862 | 112589011 | Frame-shift |
| ENST00000341068 | 112590796 | 112590888 | Frame-shift |
| ENST00000341068 | 112621251 | 112621472 | Frame-shift |
| ENST00000341068 | 112622382 | 112622528 | Frame-shift |
| ENST00000341068 | 112625599 | 112625673 | Frame-shift |
| ENST00000341068 | 112631189 | 112631241 | Frame-shift |
| ENST00000341068 | 112537875 | 112537962 | In-frame |
| ENST00000341068 | 112551654 | 112551708 | In-frame |
| ENST00000341068 | 112558373 | 112558448 | 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 |
| ENST00000341068 | 112549938 | 112550132 | Frame-shift |
| ENST00000341068 | 112563378 | 112563470 | Frame-shift |
| ENST00000341068 | 112576416 | 112576535 | Frame-shift |
| ENST00000341068 | 112578815 | 112579030 | Frame-shift |
| ENST00000341068 | 112582542 | 112582613 | Frame-shift |
| ENST00000341068 | 112582707 | 112582744 | Frame-shift |
| ENST00000341068 | 112590796 | 112590888 | Frame-shift |
| ENST00000341068 | 112621251 | 112621472 | Frame-shift |
| ENST00000341068 | 112622382 | 112622528 | Frame-shift |
| ENST00000341068 | 112625599 | 112625673 | Frame-shift |
| ENST00000341068 | 112630884 | 112630985 | Frame-shift |
| ENST00000341068 | 112631189 | 112631241 | Frame-shift |
| ENST00000341068 | 112537875 | 112537962 | In-frame |
| ENST00000341068 | 112551654 | 112551708 | In-frame |
| ENST00000341068 | 112558373 | 112558448 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANAPC1 |
| 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 |
| ENST00000341068 | 8276 | 1944 | 112558373 | 112558448 | 4995 | 5069 | 1407 | 1432 |
| ENST00000341068 | 8276 | 1944 | 112551654 | 112551708 | 5238 | 5291 | 1488 | 1506 |
| ENST00000341068 | 8276 | 1944 | 112537875 | 112537962 | 5976 | 6062 | 1734 | 1763 |
| 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 |
| ENST00000341068 | 8276 | 1944 | 112558373 | 112558448 | 4995 | 5069 | 1407 | 1432 |
| ENST00000341068 | 8276 | 1944 | 112551654 | 112551708 | 5238 | 5291 | 1488 | 1506 |
| ENST00000341068 | 8276 | 1944 | 112537875 | 112537962 | 5976 | 6062 | 1734 | 1763 |
| 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 |
| Q9H1A4 | 1407 | 1432 | 1 | 1944 | Chain | ID=PRO_0000215871;Note=Anaphase-promoting complex subunit 1 |
| Q9H1A4 | 1407 | 1432 | 1401 | 1414 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1407 | 1432 | 1423 | 1429 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1407 | 1432 | 1432 | 1436 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1407 | 1432 | 1416 | 1418 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1488 | 1506 | 1 | 1944 | Chain | ID=PRO_0000215871;Note=Anaphase-promoting complex subunit 1 |
| Q9H1A4 | 1488 | 1506 | 1482 | 1500 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1488 | 1506 | 1504 | 1507 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1488 | 1506 | 1467 | 1501 | Repeat | Note=PC 3 |
| Q9H1A4 | 1734 | 1763 | 1 | 1944 | Chain | ID=PRO_0000215871;Note=Anaphase-promoting complex subunit 1 |
| Q9H1A4 | 1734 | 1763 | 1738 | 1741 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1734 | 1763 | 1745 | 1753 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| 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 |
| Q9H1A4 | 1407 | 1432 | 1 | 1944 | Chain | ID=PRO_0000215871;Note=Anaphase-promoting complex subunit 1 |
| Q9H1A4 | 1407 | 1432 | 1401 | 1414 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1407 | 1432 | 1423 | 1429 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1407 | 1432 | 1432 | 1436 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1407 | 1432 | 1416 | 1418 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1488 | 1506 | 1 | 1944 | Chain | ID=PRO_0000215871;Note=Anaphase-promoting complex subunit 1 |
| Q9H1A4 | 1488 | 1506 | 1482 | 1500 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1488 | 1506 | 1504 | 1507 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1488 | 1506 | 1467 | 1501 | Repeat | Note=PC 3 |
| Q9H1A4 | 1734 | 1763 | 1 | 1944 | Chain | ID=PRO_0000215871;Note=Anaphase-promoting complex subunit 1 |
| Q9H1A4 | 1734 | 1763 | 1738 | 1741 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9H1A4 | 1734 | 1763 | 1745 | 1753 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
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SNVs in the skipped exons for ANAPC1 |
| - 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 |
| BLCA | TCGA-FD-A5C1-01 | exon_skip_342570 | 112578816 | 112579030 | 112578825 | 112578825 | Frame_Shift_Del | T | - | p.K1066fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_342577 | 112582708 | 112582744 | 112582739 | 112582739 | Frame_Shift_Del | G | - | p.Q904fs |
| LUAD | TCGA-44-2656-01 | exon_skip_342577 | 112582708 | 112582744 | 112582738 | 112582739 | Frame_Shift_Ins | - | G | p.Q904fs |
| STAD | TCGA-BR-4201-01 | exon_skip_342577 | 112582708 | 112582744 | 112582738 | 112582739 | Frame_Shift_Ins | - | G | p.Q904fs |
| LUSC | TCGA-60-2723-01 | exon_skip_342561 | 112549939 | 112550132 | 112550114 | 112550114 | Nonsense_Mutation | C | A | p.E1513* |
| BLCA | TCGA-MV-A51V-01 | exon_skip_342580 | 112588863 | 112589011 | 112588952 | 112588952 | Nonsense_Mutation | G | A | p.Q846* |
| BLCA | TCGA-MV-A51V-01 | exon_skip_342580 | 112588863 | 112589011 | 112589009 | 112589009 | Nonsense_Mutation | G | A | p.Q827* |
| LIHC | TCGA-DD-A116-01 | exon_skip_342559 | 112537876 | 112537962 | 112537964 | 112537965 | Splice_Site | - | A | . |
| - 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 |
| KYSE410_OESOPHAGUS | 112578816 | 112579030 | 112578898 | 112578899 | Frame_Shift_Del | GA | - | p.Q1042fs |
| RMUGS_OVARY | 112549939 | 112550132 | 112549993 | 112549993 | Missense_Mutation | C | T | p.G1553D |
| JHUEM7_ENDOMETRIUM | 112549939 | 112550132 | 112550047 | 112550047 | Missense_Mutation | A | G | p.V1535A |
| HS729_SOFT_TISSUE | 112551655 | 112551708 | 112551665 | 112551665 | Missense_Mutation | T | A | p.N1503I |
| HCT116_LARGE_INTESTINE | 112563379 | 112563470 | 112563429 | 112563429 | Missense_Mutation | C | T | p.E1292K |
| RKO_LARGE_INTESTINE | 112563379 | 112563470 | 112563429 | 112563429 | Missense_Mutation | C | T | p.E1292K |
| SNU175_LARGE_INTESTINE | 112563379 | 112563470 | 112563468 | 112563468 | Missense_Mutation | G | A | p.R1279W |
| MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112576417 | 112576535 | 112576470 | 112576470 | Missense_Mutation | G | A | p.S1091L |
| MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112582543 | 112582613 | 112582575 | 112582575 | Missense_Mutation | G | A | p.A927V |
| DMS454_LUNG | 112588863 | 112589011 | 112588939 | 112588939 | Missense_Mutation | G | A | p.S850F |
| HEC59_ENDOMETRIUM | 112621252 | 112621472 | 112621315 | 112621315 | Missense_Mutation | C | T | p.R330H |
| KM12_LARGE_INTESTINE | 112621252 | 112621472 | 112621415 | 112621415 | Missense_Mutation | T | C | p.T297A |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112621252 | 112621472 | 112621433 | 112621433 | Missense_Mutation | T | G | p.T291P |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112622383 | 112622528 | 112622396 | 112622396 | Missense_Mutation | C | T | p.R273K |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112622383 | 112622528 | 112622417 | 112622417 | Missense_Mutation | T | A | p.H266L |
| NCIH2227_LUNG | 112588863 | 112589011 | 112588970 | 112588970 | Nonsense_Mutation | C | A | p.E840* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 112558374 | 112558448 | 112558374 | 112558374 | Splice_Site | T | C | p.Q1432Q |
| S117_SOFT_TISSUE | 112558374 | 112558448 | 112558374 | 112558374 | Splice_Site | T | C | p.Q1432Q |
| HCC202_BREAST | 112621252 | 112621472 | 112621253 | 112621253 | Splice_Site | T | A | p.S351C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANAPC1 |
| 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 ANAPC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANAPC1 |
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RelatedDrugs for ANAPC1 |
| 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 ANAPC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ANAPC1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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