|
||||||
|
 | |
| |
| |
| |
| 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 API5 |
 Gene summary |
| Gene information | Gene symbol | API5 | Gene ID | 8539 |
| Gene name | apoptosis inhibitor 5 | |
| Synonyms | AAC-11|AAC11 | |
| Cytomap | 11p12 | |
| Type of gene | protein-coding | |
| Description | apoptosis inhibitor 5FIFantiapoptosis clone 11 proteincell migration-inducing gene 8 proteinfibroblast growth factor 2-interacting factor 2migration-inducing protein MIG8 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BZZ5 | |
| Context | PubMed: API5 [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 |
Top |
Exon skipping events across known transcript of Ensembl for API5 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 API5 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for API5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_58356 | 11 | 43333645:43333746:43339970:43340032:43340189:43340351 | 43339970:43340032 | ENSG00000166181.8 | ENST00000455725.2 |
| exon_skip_58358 | 11 | 43333645:43333746:43340189:43340351:43342370:43342464 | 43340189:43340351 | ENSG00000166181.8 | ENST00000378852.3,ENST00000534600.1,ENST00000531273.1 |
| exon_skip_58361 | 11 | 43344979:43345186:43348056:43348161:43349338:43349428 | 43348056:43348161 | ENSG00000166181.8 | ENST00000420461.2,ENST00000378852.3,ENST00000534600.1,ENST00000531273.1,ENST00000455725.2 |
| exon_skip_58366 | 11 | 43348056:43348161:43349338:43349428:43350261:43350443 | 43349338:43349428 | ENSG00000166181.8 | ENST00000420461.2,ENST00000378852.3,ENST00000534600.1,ENST00000531273.1,ENST00000455725.2 |
| exon_skip_58367 | 11 | 43351535:43351608:43352057:43352114:43356827:43356904 | 43352057:43352114 | ENSG00000166181.8 | ENST00000526394.1,ENST00000420461.2,ENST00000378852.3,ENST00000534600.1,ENST00000531273.1,ENST00000455725.2 |
| exon_skip_58368 | 11 | 43352057:43352114:43356827:43356904:43357407:43357490 | 43356827:43356904 | ENSG00000166181.8 | ENST00000526394.1,ENST00000420461.2,ENST00000529932.1,ENST00000378852.3,ENST00000534600.1,ENST00000531273.1,ENST00000455725.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for API5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_58356 | 11 | 43333645:43333746:43339970:43340032:43340189:43340351 | 43339970:43340032 | ENSG00000166181.8 | ENST00000455725.2 |
| exon_skip_58358 | 11 | 43333645:43333746:43340189:43340351:43342370:43342464 | 43340189:43340351 | ENSG00000166181.8 | ENST00000531273.1,ENST00000378852.3,ENST00000534600.1 |
| exon_skip_58361 | 11 | 43344979:43345186:43348056:43348161:43349338:43349428 | 43348056:43348161 | ENSG00000166181.8 | ENST00000455725.2,ENST00000531273.1,ENST00000420461.2,ENST00000378852.3,ENST00000534600.1 |
| exon_skip_58366 | 11 | 43348056:43348161:43349338:43349428:43350261:43350443 | 43349338:43349428 | ENSG00000166181.8 | ENST00000455725.2,ENST00000531273.1,ENST00000420461.2,ENST00000378852.3,ENST00000534600.1 |
| exon_skip_58367 | 11 | 43351535:43351608:43352057:43352114:43356827:43356904 | 43352057:43352114 | ENSG00000166181.8 | ENST00000455725.2,ENST00000531273.1,ENST00000420461.2,ENST00000378852.3,ENST00000534600.1,ENST00000526394.1 |
| exon_skip_58368 | 11 | 43352057:43352114:43356827:43356904:43357407:43357490 | 43356827:43356904 | ENSG00000166181.8 | ENST00000455725.2,ENST00000531273.1,ENST00000420461.2,ENST00000378852.3,ENST00000534600.1,ENST00000526394.1,ENST00000529932.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for API5 |
| 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 |
| 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 |
Top |
Infer the effects of exon skipping event on protein functional features for API5 |
| 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 |
| 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 |
| 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 API5 |
| - 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 |
| LGG | TCGA-DB-5275-01 | exon_skip_58361 | 43348057 | 43348161 | 43348086 | 43348087 | Frame_Shift_Del | AT | - | p.206_206del |
| LGG | TCGA-DB-5275-01 | exon_skip_58361 | 43348057 | 43348161 | 43348086 | 43348087 | Frame_Shift_Del | AT | - | p.TY260fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_58367 | 43352058 | 43352114 | 43352090 | 43352090 | Frame_Shift_Del | A | - | p.T418fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_58367 | 43352058 | 43352114 | 43352104 | 43352104 | Frame_Shift_Del | T | - | p.V423fs |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_58358 | 43340190 | 43340351 | 43340247 | 43340247 | Nonsense_Mutation | C | T | p.R43* |
| LUSC | TCGA-85-6561-01 | exon_skip_58361 | 43348057 | 43348161 | 43348096 | 43348096 | Nonsense_Mutation | G | T | p.E264* |
| UCEC | TCGA-BS-A0UM-01 | exon_skip_58361 | 43348057 | 43348161 | 43348099 | 43348099 | Nonsense_Mutation | C | T | p.Q265* |
| STAD | TCGA-BR-4257-01 | exon_skip_58368 | 43356828 | 43356904 | 43356827 | 43356827 | Splice_Site | G | T | . |
| STAD | TCGA-BR-4257-01 | exon_skip_58368 | 43356828 | 43356904 | 43356827 | 43356827 | Splice_Site | G | T | p.D427_splice |
| - 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 |
| KP4_PANCREAS | 43340190 | 43340351 | 43340205 | 43340205 | Missense_Mutation | C | G | p.Q29E |
| GP5D_LARGE_INTESTINE | 43340190 | 43340351 | 43340254 | 43340254 | Missense_Mutation | C | T | p.A45V |
| COLO792_SKIN | 43340190 | 43340351 | 43340289 | 43340289 | Missense_Mutation | C | T | p.P57S |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43348057 | 43348161 | 43348094 | 43348094 | Missense_Mutation | G | A | p.C263Y |
| NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43348057 | 43348161 | 43348117 | 43348117 | Missense_Mutation | G | A | p.G271S |
| SKMEL28_SKIN | 43340190 | 43340351 | 43340259 | 43340259 | Nonsense_Mutation | C | T | p.Q47* |
| NCIH2228_LUNG | 43356828 | 43356904 | 43356828 | 43356828 | Splice_Site | G | A | p.D427N |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for API5 |
| 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 API5 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for API5 |
Top |
RelatedDrugs for API5 |
| 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 |
Top |
RelatedDiseases for API5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|