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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 ANAPC7 |
 Gene summary |
| Gene information | Gene symbol | ANAPC7 | Gene ID | 51434 |
| Gene name | anaphase promoting complex subunit 7 | |
| Synonyms | APC7 | |
| Cytomap | 12q24.11 | |
| Type of gene | protein-coding | |
| Description | anaphase-promoting complex subunit 7cyclosome subunit 7 | |
| Modification date | 20180522 | |
| UniProtAcc | Q9UJX3 | |
| Context | PubMed: ANAPC7 [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 |
| ANAPC7 | GO:0070979 | protein K11-linked ubiquitination | 18485873 |
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Exon skipping events across known transcript of Ensembl for ANAPC7 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 ANAPC7 |
| 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 ANAPC7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_96196 | 12 | 110813936:110814021:110815197:110815422:110819556:110819663 | 110815197:110815422 | ENSG00000196510.8 | ENST00000455511.3,ENST00000471602.2,ENST00000450008.2 |
| exon_skip_96206 | 12 | 110815395:110815422:110819556:110819753:110820647:110820765 | 110819556:110819753 | ENSG00000196510.8 | ENST00000455511.3,ENST00000548234.1,ENST00000471602.2,ENST00000450008.2 |
| exon_skip_96217 | 12 | 110819556:110819753:110820647:110820765:110824131:110824223 | 110820647:110820765 | ENSG00000196510.8 | ENST00000455511.3,ENST00000548234.1,ENST00000450008.2 |
| exon_skip_96232 | 12 | 110824219:110824274:110825543:110825697:110826316:110826428 | 110825543:110825697 | ENSG00000196510.8 | ENST00000455511.3,ENST00000546720.1,ENST00000450008.2,ENST00000552170.1 |
| exon_skip_96235 | 12 | 110825543:110825697:110826316:110826428:110832905:110833025 | 110826316:110826428 | ENSG00000196510.8 | ENST00000455511.3,ENST00000546720.1,ENST00000450008.2,ENST00000552170.1 |
| exon_skip_96243 | 12 | 110832905:110833025:110834070:110834257:110841331:110841469 | 110834070:110834257 | ENSG00000196510.8 | ENST00000464697.1,ENST00000450008.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ANAPC7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_96196 | 12 | 110813936:110814021:110815197:110815422:110819556:110819663 | 110815197:110815422 | ENSG00000196510.8 | ENST00000455511.3,ENST00000450008.2,ENST00000471602.2 |
| exon_skip_96206 | 12 | 110815395:110815422:110819556:110819753:110820647:110820765 | 110819556:110819753 | ENSG00000196510.8 | ENST00000455511.3,ENST00000450008.2,ENST00000471602.2,ENST00000548234.1 |
| exon_skip_96217 | 12 | 110819556:110819753:110820647:110820765:110824131:110824223 | 110820647:110820765 | ENSG00000196510.8 | ENST00000455511.3,ENST00000450008.2,ENST00000548234.1 |
| exon_skip_96232 | 12 | 110824219:110824274:110825543:110825697:110826316:110826428 | 110825543:110825697 | ENSG00000196510.8 | ENST00000455511.3,ENST00000450008.2,ENST00000546720.1,ENST00000552170.1 |
| exon_skip_96235 | 12 | 110825543:110825697:110826316:110826428:110832905:110833025 | 110826316:110826428 | ENSG00000196510.8 | ENST00000455511.3,ENST00000450008.2,ENST00000546720.1,ENST00000552170.1 |
| exon_skip_96243 | 12 | 110832905:110833025:110834070:110834257:110841331:110841469 | 110834070:110834257 | ENSG00000196510.8 | ENST00000450008.2,ENST00000464697.1 |
| 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 ANAPC7 |
| 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 |
| ENST00000455511 | 110819556 | 110819753 | Frame-shift |
| ENST00000455511 | 110820647 | 110820765 | Frame-shift |
| ENST00000455511 | 110825543 | 110825697 | Frame-shift |
| ENST00000455511 | 110826316 | 110826428 | Frame-shift |
| ENST00000455511 | 110815197 | 110815422 | 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 |
| ENST00000455511 | 110819556 | 110819753 | Frame-shift |
| ENST00000455511 | 110820647 | 110820765 | Frame-shift |
| ENST00000455511 | 110825543 | 110825697 | Frame-shift |
| ENST00000455511 | 110826316 | 110826428 | Frame-shift |
| ENST00000455511 | 110815197 | 110815422 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANAPC7 |
| 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 |
| ENST00000455511 | 3062 | 599 | 110815197 | 110815422 | 1236 | 1460 | 411 | 486 |
| 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 |
| ENST00000455511 | 3062 | 599 | 110815197 | 110815422 | 1236 | 1460 | 411 | 486 |
| 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 |
| Q9UJX3 | 411 | 486 | 1 | 599 | Chain | ID=PRO_0000106261;Note=Anaphase-promoting complex subunit 7 |
| Q9UJX3 | 411 | 486 | 407 | 420 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9UJX3 | 411 | 486 | 423 | 437 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9UJX3 | 411 | 486 | 442 | 453 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9UJX3 | 411 | 486 | 458 | 471 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9UJX3 | 411 | 486 | 476 | 489 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9UJX3 | 411 | 486 | 407 | 440 | Repeat | Note=TPR 6 |
| Q9UJX3 | 411 | 486 | 441 | 475 | Repeat | Note=TPR 7 |
| Q9UJX3 | 411 | 486 | 476 | 508 | Repeat | Note=TPR 8 |
| Q9UJX3 | 411 | 486 | 454 | 456 | Turn | 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 |
| Q9UJX3 | 411 | 486 | 1 | 599 | Chain | ID=PRO_0000106261;Note=Anaphase-promoting complex subunit 7 |
| Q9UJX3 | 411 | 486 | 407 | 420 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9UJX3 | 411 | 486 | 423 | 437 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9UJX3 | 411 | 486 | 442 | 453 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9UJX3 | 411 | 486 | 458 | 471 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9UJX3 | 411 | 486 | 476 | 489 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
| Q9UJX3 | 411 | 486 | 407 | 440 | Repeat | Note=TPR 6 |
| Q9UJX3 | 411 | 486 | 441 | 475 | Repeat | Note=TPR 7 |
| Q9UJX3 | 411 | 486 | 476 | 508 | Repeat | Note=TPR 8 |
| Q9UJX3 | 411 | 486 | 454 | 456 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5G05 |
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SNVs in the skipped exons for ANAPC7 |
| - 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 |
| PCPG | TCGA-RW-A688-01 | exon_skip_96232 | 110825544 | 110825697 | 110825686 | 110825686 | Frame_Shift_Del | G | - | p.L212fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_96243 | 110834071 | 110834257 | 110834116 | 110834116 | Frame_Shift_Del | T | - | p.K115fs |
| KIRC | TCGA-BP-4976-01 | exon_skip_96196 | 110815198 | 110815422 | 110815266 | 110815266 | Nonsense_Mutation | A | T | p.L464* |
| KIRC | TCGA-BP-4976-01 | exon_skip_96196 | 110815198 | 110815422 | 110815266 | 110815266 | Nonsense_Mutation | A | T | p.L464X |
| PRAD | TCGA-G9-6365-01 | exon_skip_96196 | 110815198 | 110815422 | 110815282 | 110815282 | Nonsense_Mutation | C | A | p.E459* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_96206 | 110819557 | 110819753 | 110819628 | 110819628 | Nonsense_Mutation | C | A | p.E381* |
| GBM | TCGA-14-3476-01 | exon_skip_96232 | 110825544 | 110825697 | 110825638 | 110825638 | Nonsense_Mutation | G | A | p.Q228* |
| COAD | TCGA-AZ-4615-01 | exon_skip_96243 | 110834071 | 110834257 | 110834116 | 110834116 | Nonsense_Mutation | T | - | p.V116X |
| - 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 |
| EMCBAC2_LUNG | 110815198 | 110815422 | 110815395 | 110815395 | Missense_Mutation | T | C | p.N421S |
| SKUT1_SOFT_TISSUE | 110819557 | 110819753 | 110819581 | 110819581 | Missense_Mutation | G | A | p.P404S |
| NCIH740_LUNG | 110819557 | 110819753 | 110819584 | 110819584 | Missense_Mutation | C | T | p.A403T |
| FTC133_THYROID | 110819557 | 110819753 | 110819589 | 110819589 | Missense_Mutation | C | T | p.R401Q |
| JHUEM7_ENDOMETRIUM | 110819557 | 110819753 | 110819602 | 110819602 | Missense_Mutation | G | A | p.R397W |
| SNU1040_LARGE_INTESTINE | 110819557 | 110819753 | 110819613 | 110819613 | Missense_Mutation | A | G | p.I393T |
| HEC265_ENDOMETRIUM | 110819557 | 110819753 | 110819686 | 110819686 | Missense_Mutation | T | C | p.N369D |
| NB7_AUTONOMIC_GANGLIA | 110819557 | 110819753 | 110819721 | 110819721 | Missense_Mutation | C | T | p.R357Q |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 110820648 | 110820765 | 110820727 | 110820727 | Missense_Mutation | G | A | p.R320W |
| SIHA_CERVIX | 110825544 | 110825697 | 110825584 | 110825584 | Missense_Mutation | C | T | p.V246M |
| ISTSL1_LUNG | 110825544 | 110825697 | 110825595 | 110825595 | Missense_Mutation | G | A | p.A242V |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 110825544 | 110825697 | 110825632 | 110825632 | Missense_Mutation | C | T | p.V230M |
| D245MG_CENTRAL_NERVOUS_SYSTEM | 110826317 | 110826428 | 110826343 | 110826343 | Missense_Mutation | C | T | p.C199Y |
| TE11_OESOPHAGUS | 110826317 | 110826428 | 110826357 | 110826357 | Missense_Mutation | C | A | p.E194D |
| NCIH630_LARGE_INTESTINE | 110834071 | 110834257 | 110834180 | 110834180 | Missense_Mutation | C | T | p.R94Q |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 110834071 | 110834257 | 110834240 | 110834240 | Missense_Mutation | G | T | p.P74H |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 110834071 | 110834257 | 110834244 | 110834244 | Missense_Mutation | G | C | p.P73A |
| MDAPCA2B_PROSTATE | 110834071 | 110834257 | 110834246 | 110834246 | Missense_Mutation | G | A | p.S72F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANAPC7 |
| 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 ANAPC7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANAPC7 |
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RelatedDrugs for ANAPC7 |
| 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 ANAPC7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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