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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 AFAP1L2 |
 Gene summary |
| Gene information | Gene symbol | AFAP1L2 | Gene ID | 84632 |
| Gene name | actin filament associated protein 1 like 2 | |
| Synonyms | CTB-1144G6.4|KIAA1914|XB130 | |
| Cytomap | 10q25.3 | |
| Type of gene | protein-coding | |
| Description | actin filament-associated protein 1-like 2AFAP1-like protein 2CTB-1144G6.6 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N4X5 | |
| Context | PubMed: AFAP1L2 [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 |
| AFAP1L2 | GO:0006954 | inflammatory response | 17412687 |
| AFAP1L2 | GO:0007346 | regulation of mitotic cell cycle | 17412687 |
| AFAP1L2 | GO:0032675 | regulation of interleukin-6 production | 17412687 |
| AFAP1L2 | GO:0032757 | positive regulation of interleukin-8 production | 17412687 |
| AFAP1L2 | GO:0045742 | positive regulation of epidermal growth factor receptor signaling pathway | 17412687 |
| AFAP1L2 | GO:0045893 | positive regulation of transcription, DNA-templated | 17412687 |
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Exon skipping events across known transcript of Ensembl for AFAP1L2 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 AFAP1L2 |
| 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 AFAP1L2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54172 | 10 | 116059952:116060121:116060203:116060449:116061112:116061224 | 116060203:116060449 | ENSG00000169129.10 | ENST00000304129.4,ENST00000545353.1,ENST00000369271.3,ENST00000491814.1 |
| exon_skip_54177 | 10 | 116064477:116064689:116067563:116067668:116068191:116068276 | 116067563:116067668 | ENSG00000169129.10 | ENST00000304129.4,ENST00000545353.1,ENST00000369271.3 |
| exon_skip_54179 | 10 | 116082935:116083020:116085640:116085799:116091561:116091656 | 116085640:116085799 | ENSG00000169129.10 | ENST00000545353.1 |
| exon_skip_54180 | 10 | 116082935:116083020:116091561:116091656:116092979:116093054 | 116091561:116091656 | ENSG00000169129.10 | ENST00000304129.4,ENST00000419268.1,ENST00000483496.1,ENST00000369271.3 |
| exon_skip_54186 | 10 | 116100361:116100490:116153242:116153337:116164198:116164239 | 116153242:116153337 | ENSG00000169129.10 | ENST00000483496.1 |
| exon_skip_54188 | 10 | 116100361:116100490:116158609:116158663:116164198:116164239 | 116158609:116158663 | ENSG00000169129.10 | ENST00000419268.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AFAP1L2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54172 | 10 | 116059952:116060121:116060203:116060449:116061112:116061224 | 116060203:116060449 | ENSG00000169129.10 | ENST00000304129.4,ENST00000369271.3,ENST00000491814.1,ENST00000545353.1 |
| exon_skip_54177 | 10 | 116064477:116064689:116067563:116067668:116068191:116068276 | 116067563:116067668 | ENSG00000169129.10 | ENST00000304129.4,ENST00000369271.3,ENST00000545353.1 |
| exon_skip_54179 | 10 | 116082935:116083020:116085640:116085799:116091561:116091656 | 116085640:116085799 | ENSG00000169129.10 | ENST00000545353.1 |
| exon_skip_54180 | 10 | 116082935:116083020:116091561:116091656:116092979:116093054 | 116091561:116091656 | ENSG00000169129.10 | ENST00000304129.4,ENST00000369271.3,ENST00000419268.1,ENST00000483496.1 |
| exon_skip_54186 | 10 | 116100361:116100490:116153242:116153337:116164198:116164239 | 116153242:116153337 | ENSG00000169129.10 | ENST00000483496.1 |
| exon_skip_54188 | 10 | 116100361:116100490:116158609:116158663:116164198:116164239 | 116158609:116158663 | ENSG00000169129.10 | ENST00000419268.1 |
| 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 AFAP1L2 |
| 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 |
| ENST00000304129 | 116091561 | 116091656 | Frame-shift |
| ENST00000304129 | 116060203 | 116060449 | In-frame |
| ENST00000304129 | 116067563 | 116067668 | 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 |
| ENST00000304129 | 116091561 | 116091656 | Frame-shift |
| ENST00000304129 | 116060203 | 116060449 | In-frame |
| ENST00000304129 | 116067563 | 116067668 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AFAP1L2 |
| 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 |
| ENST00000304129 | 3722 | 818 | 116067563 | 116067668 | 998 | 1102 | 322 | 357 |
| ENST00000304129 | 3722 | 818 | 116060203 | 116060449 | 1573 | 1818 | 514 | 596 |
| 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 |
| ENST00000304129 | 3722 | 818 | 116067563 | 116067668 | 998 | 1102 | 322 | 357 |
| ENST00000304129 | 3722 | 818 | 116060203 | 116060449 | 1573 | 1818 | 514 | 596 |
| 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 |
| Q8N4X5 | 322 | 357 | 1 | 478 | Alternative sequence | ID=VSP_014254;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11572484;Dbxref=PMID:11572484 |
| Q8N4X5 | 322 | 357 | 1 | 818 | Chain | ID=PRO_0000050805;Note=Actin filament-associated protein 1-like 2 |
| Q8N4X5 | 322 | 357 | 353 | 447 | Domain | Note=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q8N4X5 | 514 | 596 | 1 | 818 | Chain | ID=PRO_0000050805;Note=Actin filament-associated protein 1-like 2 |
| Q8N4X5 | 514 | 596 | 522 | 522 | Natural variant | ID=VAR_050507;Note=T->S;Dbxref=dbSNP:rs2781806 |
| Q8N4X5 | 514 | 596 | 567 | 567 | Sequence conflict | Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N4X5 | 514 | 596 | 596 | 596 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q8N4X5 | 322 | 357 | 1 | 478 | Alternative sequence | ID=VSP_014254;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11572484;Dbxref=PMID:11572484 |
| Q8N4X5 | 322 | 357 | 1 | 818 | Chain | ID=PRO_0000050805;Note=Actin filament-associated protein 1-like 2 |
| Q8N4X5 | 322 | 357 | 353 | 447 | Domain | Note=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q8N4X5 | 514 | 596 | 1 | 818 | Chain | ID=PRO_0000050805;Note=Actin filament-associated protein 1-like 2 |
| Q8N4X5 | 514 | 596 | 522 | 522 | Natural variant | ID=VAR_050507;Note=T->S;Dbxref=dbSNP:rs2781806 |
| Q8N4X5 | 514 | 596 | 567 | 567 | Sequence conflict | Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N4X5 | 514 | 596 | 596 | 596 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for AFAP1L2 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_54172 | 116060204 | 116060449 | 116060211 | 116060211 | Frame_Shift_Del | C | - | p.G594fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_54172 | 116060204 | 116060449 | 116060389 | 116060389 | Nonsense_Mutation | G | A | p.R535* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_54172 | 116060204 | 116060449 | 116060389 | 116060389 | Nonsense_Mutation | G | A | p.R535X |
| HNSC | TCGA-CV-A45O-01 | exon_skip_54177 | 116067564 | 116067668 | 116067594 | 116067594 | Nonsense_Mutation | C | A | p.E348* |
| - 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 |
| BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 116060204 | 116060449 | 116060209 | 116060209 | Missense_Mutation | C | T | p.E595K |
| HUO3N1_BONE | 116060204 | 116060449 | 116060209 | 116060209 | Missense_Mutation | C | T | p.E595K |
| MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 116060204 | 116060449 | 116060209 | 116060209 | Missense_Mutation | C | T | p.E595K |
| MDAMB361_BREAST | 116060204 | 116060449 | 116060242 | 116060242 | Missense_Mutation | C | T | p.E584K |
| JHUEM2_ENDOMETRIUM | 116060204 | 116060449 | 116060323 | 116060323 | Missense_Mutation | C | T | p.A557T |
| SNU46_UPPER_AERODIGESTIVE_TRACT | 116060204 | 116060449 | 116060446 | 116060446 | Missense_Mutation | C | T | p.E516K |
| NCIH2030_LUNG | 116091562 | 116091656 | 116091612 | 116091612 | Missense_Mutation | G | T | p.H89N |
| NCIH1581_LUNG | 116060204 | 116060449 | 116060389 | 116060389 | Nonsense_Mutation | G | A | p.R535* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AFAP1L2 |
| 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 AFAP1L2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AFAP1L2 |
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RelatedDrugs for AFAP1L2 |
| 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 AFAP1L2 |
| 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)
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