|
||||||
|
 | |
| |
| |
| |
| 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 AFF4 |
 Gene summary |
| Gene information | Gene symbol | AFF4 | Gene ID | 27125 |
| Gene name | AF4/FMR2 family member 4 | |
| Synonyms | AF5Q31|CHOPS|MCEF | |
| Cytomap | 5q31.1 | |
| Type of gene | protein-coding | |
| Description | AF4/FMR2 family member 4ALL1-fused gene from chromosome 5q31 proteinmajor CDK9 elongation factor-associated protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UHB7 | |
| Context | PubMed: AFF4 [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 AFF4 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 AFF4 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for AFF4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_444124 | 5 | 132211070:132216878:132219031:132219252:132220767:132220811 | 132219031:132219252 | ENSG00000072364.8 | ENST00000265343.5 |
| exon_skip_444127 | 5 | 132220767:132220811:132222001:132222095:132223212:132223284 | 132222001:132222095 | ENSG00000072364.8 | ENST00000265343.5 |
| exon_skip_444129 | 5 | 132223788:132223852:132224770:132224865:132227855:132228096 | 132224770:132224865 | ENSG00000072364.8 | ENST00000265343.5 |
| exon_skip_444131 | 5 | 132227855:132228096:132228721:132228810:132232014:132232932 | 132228721:132228810 | ENSG00000072364.8 | ENST00000378595.3,ENST00000265343.5 |
| exon_skip_444132 | 5 | 132228721:132228810:132232014:132232932:132233921:132234057 | 132232014:132232932 | ENSG00000072364.8 | ENST00000378595.3,ENST00000265343.5 |
| exon_skip_444137 | 5 | 132232895:132232932:132233921:132234084:132234795:132234833 | 132233921:132234084 | ENSG00000072364.8 | ENST00000378595.3,ENST00000265343.5,ENST00000478588.1,ENST00000425658.1 |
| exon_skip_444139 | 5 | 132235278:132235333:132238133:132238179:132240059:132240096 | 132238133:132238179 | ENSG00000072364.8 | ENST00000477369.1,ENST00000378593.2,ENST00000378595.3,ENST00000265343.5,ENST00000425658.1 |
| exon_skip_444141 | 5 | 132238133:132238179:132240059:132240096:132262812:132262899 | 132240059:132240096 | ENSG00000072364.8 | ENST00000477369.1,ENST00000378593.2,ENST00000378595.3,ENST00000265343.5 |
| exon_skip_444142 | 5 | 132240059:132240096:132262812:132262899:132267869:132267914 | 132262812:132262899 | ENSG00000072364.8 | ENST00000378593.2,ENST00000378595.3,ENST00000491831.1,ENST00000265343.5 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for AFF4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_444124 | 5 | 132211070:132216878:132219031:132219252:132220767:132220811 | 132219031:132219252 | ENSG00000072364.8 | ENST00000265343.5 |
| exon_skip_444127 | 5 | 132220767:132220811:132222001:132222095:132223212:132223284 | 132222001:132222095 | ENSG00000072364.8 | ENST00000265343.5 |
| exon_skip_444129 | 5 | 132223788:132223852:132224770:132224865:132227855:132228096 | 132224770:132224865 | ENSG00000072364.8 | ENST00000265343.5 |
| exon_skip_444131 | 5 | 132227855:132228096:132228721:132228810:132232014:132232932 | 132228721:132228810 | ENSG00000072364.8 | ENST00000265343.5,ENST00000378595.3 |
| exon_skip_444132 | 5 | 132228721:132228810:132232014:132232932:132233921:132234057 | 132232014:132232932 | ENSG00000072364.8 | ENST00000265343.5,ENST00000378595.3 |
| exon_skip_444137 | 5 | 132232895:132232932:132233921:132234084:132234795:132234833 | 132233921:132234084 | ENSG00000072364.8 | ENST00000265343.5,ENST00000378595.3,ENST00000478588.1,ENST00000425658.1 |
| exon_skip_444139 | 5 | 132235278:132235333:132238133:132238179:132240059:132240096 | 132238133:132238179 | ENSG00000072364.8 | ENST00000265343.5,ENST00000378595.3,ENST00000378593.2,ENST00000425658.1,ENST00000477369.1 |
| exon_skip_444141 | 5 | 132238133:132238179:132240059:132240096:132262812:132262899 | 132240059:132240096 | ENSG00000072364.8 | ENST00000265343.5,ENST00000378595.3,ENST00000378593.2,ENST00000477369.1 |
| exon_skip_444142 | 5 | 132240059:132240096:132262812:132262899:132267869:132267914 | 132262812:132262899 | ENSG00000072364.8 | ENST00000265343.5,ENST00000378595.3,ENST00000378593.2,ENST00000491831.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for AFF4 |
| 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 |
| ENST00000265343 | 132219031 | 132219252 | Frame-shift |
| ENST00000265343 | 132222001 | 132222095 | Frame-shift |
| ENST00000265343 | 132224770 | 132224865 | Frame-shift |
| ENST00000265343 | 132228721 | 132228810 | Frame-shift |
| ENST00000265343 | 132233921 | 132234084 | Frame-shift |
| ENST00000265343 | 132238133 | 132238179 | Frame-shift |
| ENST00000265343 | 132240059 | 132240096 | Frame-shift |
| ENST00000265343 | 132232014 | 132232932 | In-frame |
| ENST00000265343 | 132262812 | 132262899 | 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 |
| ENST00000265343 | 132219031 | 132219252 | Frame-shift |
| ENST00000265343 | 132222001 | 132222095 | Frame-shift |
| ENST00000265343 | 132224770 | 132224865 | Frame-shift |
| ENST00000265343 | 132228721 | 132228810 | Frame-shift |
| ENST00000265343 | 132233921 | 132234084 | Frame-shift |
| ENST00000265343 | 132238133 | 132238179 | Frame-shift |
| ENST00000265343 | 132240059 | 132240096 | Frame-shift |
| ENST00000265343 | 132232014 | 132232932 | In-frame |
| ENST00000265343 | 132262812 | 132262899 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for AFF4 |
| 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 |
| ENST00000265343 | 9569 | 1163 | 132262812 | 132262899 | 1344 | 1430 | 321 | 350 |
| ENST00000265343 | 9569 | 1163 | 132232014 | 132232932 | 1770 | 2687 | 463 | 769 |
| 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 |
| ENST00000265343 | 9569 | 1163 | 132262812 | 132262899 | 1344 | 1430 | 321 | 350 |
| ENST00000265343 | 9569 | 1163 | 132232014 | 132232932 | 1770 | 2687 | 463 | 769 |
| 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 |
| Q9UHB7 | 321 | 350 | 1 | 1163 | Chain | ID=PRO_0000239393;Note=AF4/FMR2 family member 4 |
| Q9UHB7 | 321 | 350 | 102 | 461 | Compositional bias | Note=Ser-rich |
| Q9UHB7 | 321 | 350 | 315 | 323 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JW9 |
| Q9UHB7 | 321 | 350 | 350 | 351 | Site | Note=Breakpoint for insertion to form KMT2A/MLL1-AFF4 fusion protein |
| Q9UHB7 | 463 | 769 | 354 | 1163 | Alternative sequence | ID=VSP_019219;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9UHB7 | 463 | 769 | 1 | 1163 | Chain | ID=PRO_0000239393;Note=AF4/FMR2 family member 4 |
| Q9UHB7 | 463 | 769 | 583 | 583 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| Q9UHB7 | 463 | 769 | 487 | 487 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 |
| Q9UHB7 | 463 | 769 | 490 | 490 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9ESC8 |
| Q9UHB7 | 463 | 769 | 491 | 491 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9ESC8 |
| Q9UHB7 | 463 | 769 | 549 | 549 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195 |
| Q9UHB7 | 463 | 769 | 671 | 671 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19369195;Dbxref=PMID:18669648,PMID:19369195 |
| Q9UHB7 | 463 | 769 | 674 | 674 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:23186163;Dbxref=PMID:18220336,PMID:23186163 |
| Q9UHB7 | 463 | 769 | 680 | 680 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9UHB7 | 463 | 769 | 694 | 694 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q9UHB7 | 463 | 769 | 703 | 703 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163 |
| Q9UHB7 | 463 | 769 | 706 | 706 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163,PMID |
| Q9UHB7 | 463 | 769 | 712 | 712 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q9UHB7 | 463 | 769 | 757 | 757 | Natural variant | ID=VAR_064693;Note=Found in a clear cell renal carcinoma case%3B somatic mutation. S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21248752;Dbxref=PMID:21248752 |
| 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 |
| Q9UHB7 | 321 | 350 | 1 | 1163 | Chain | ID=PRO_0000239393;Note=AF4/FMR2 family member 4 |
| Q9UHB7 | 321 | 350 | 102 | 461 | Compositional bias | Note=Ser-rich |
| Q9UHB7 | 321 | 350 | 315 | 323 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JW9 |
| Q9UHB7 | 321 | 350 | 350 | 351 | Site | Note=Breakpoint for insertion to form KMT2A/MLL1-AFF4 fusion protein |
| Q9UHB7 | 463 | 769 | 354 | 1163 | Alternative sequence | ID=VSP_019219;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9UHB7 | 463 | 769 | 1 | 1163 | Chain | ID=PRO_0000239393;Note=AF4/FMR2 family member 4 |
| Q9UHB7 | 463 | 769 | 583 | 583 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| Q9UHB7 | 463 | 769 | 487 | 487 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 |
| Q9UHB7 | 463 | 769 | 490 | 490 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9ESC8 |
| Q9UHB7 | 463 | 769 | 491 | 491 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9ESC8 |
| Q9UHB7 | 463 | 769 | 549 | 549 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195 |
| Q9UHB7 | 463 | 769 | 671 | 671 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19369195;Dbxref=PMID:18669648,PMID:19369195 |
| Q9UHB7 | 463 | 769 | 674 | 674 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:23186163;Dbxref=PMID:18220336,PMID:23186163 |
| Q9UHB7 | 463 | 769 | 680 | 680 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9UHB7 | 463 | 769 | 694 | 694 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q9UHB7 | 463 | 769 | 703 | 703 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163 |
| Q9UHB7 | 463 | 769 | 706 | 706 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163,PMID |
| Q9UHB7 | 463 | 769 | 712 | 712 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q9UHB7 | 463 | 769 | 757 | 757 | Natural variant | ID=VAR_064693;Note=Found in a clear cell renal carcinoma case%3B somatic mutation. S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21248752;Dbxref=PMID:21248752 |
Top |
SNVs in the skipped exons for AFF4 |
| - 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. |
AFF4_LIHC_exon_skip_444132_psi_boxplot.png |
AFF4_SKCM_exon_skip_444132_psi_boxplot.png |
AFF4_STAD_exon_skip_444132_psi_boxplot.png |
| - 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_444127 | 132222002 | 132222095 | 132222042 | 132222042 | Frame_Shift_Del | T | - | p.N1020fs |
| KIRP | TCGA-B1-A656-01 | exon_skip_444129 | 132224771 | 132224865 | 132224787 | 132224791 | Frame_Shift_Del | GCTTT | - | p.905_906del |
| KIRP | TCGA-B1-A656-01 | exon_skip_444129 | 132224771 | 132224865 | 132224787 | 132224791 | Frame_Shift_Del | GCTTT | - | p.T904fs |
| SKCM | TCGA-D3-A3MO-06 | exon_skip_444129 | 132224771 | 132224865 | 132224853 | 132224853 | Frame_Shift_Del | T | - | p.S884fs |
| SKCM | TCGA-D3-A3MO-06 | exon_skip_444129 | 132224771 | 132224865 | 132224853 | 132224853 | Frame_Shift_Del | T | - | p.S887fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_444131 | 132228722 | 132228810 | 132228768 | 132228768 | Frame_Shift_Del | T | - | p.T784fs |
| SKCM | TCGA-EE-A2GD-06 | exon_skip_444132 | 132232015 | 132232932 | 132232044 | 132232044 | Frame_Shift_Del | C | - | p.V760fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_444132 | 132232015 | 132232932 | 132232045 | 132232045 | Frame_Shift_Del | T | - | p.K759fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_444132 | 132232015 | 132232932 | 132232082 | 132232082 | Frame_Shift_Del | T | - | p.K747fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_444132 | 132232015 | 132232932 | 132232104 | 132232104 | Frame_Shift_Del | C | - | p.E740fs |
| COAD | TCGA-AA-3663-01 | exon_skip_444132 | 132232015 | 132232932 | 132232258 | 132232258 | Frame_Shift_Del | A | - | p.R689fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_444132 | 132232015 | 132232932 | 132232258 | 132232258 | Frame_Shift_Del | A | - | p.R689fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_444132 | 132232015 | 132232932 | 132232372 | 132232372 | Frame_Shift_Del | G | - | p.S651fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_444132 | 132232015 | 132232932 | 132232405 | 132232405 | Frame_Shift_Del | T | - | p.K639fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_444132 | 132232015 | 132232932 | 132232439 | 132232439 | Frame_Shift_Del | T | - | p.K629fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_444132 | 132232015 | 132232932 | 132232560 | 132232560 | Frame_Shift_Del | T | - | p.T588fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_444132 | 132232015 | 132232932 | 132232627 | 132232627 | Frame_Shift_Del | T | - | p.K565fs |
| STAD | TCGA-CG-5726-01 | exon_skip_444132 | 132232015 | 132232932 | 132232627 | 132232627 | Frame_Shift_Del | T | - | p.Q566fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_444132 | 132232015 | 132232932 | 132232756 | 132232756 | Frame_Shift_Del | T | - | p.K522fs |
| COAD | TCGA-AA-3713-01 | exon_skip_444142 | 132262813 | 132262899 | 132262874 | 132262874 | Frame_Shift_Del | G | - | p.P330fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_444132 | 132232015 | 132232932 | 132232257 | 132232258 | Frame_Shift_Ins | - | A | p.LA688fs |
| UCEC | TCGA-BS-A0V6-01 | exon_skip_444124 | 132219032 | 132219252 | 132219211 | 132219211 | Nonsense_Mutation | G | T | p.S1062* |
| CESC | TCGA-DS-A1OC-01 | exon_skip_444127 | 132222002 | 132222095 | 132222085 | 132222085 | Nonsense_Mutation | C | A | p.E1006* |
| UCEC | TCGA-AP-A051-01 | exon_skip_444132 | 132232015 | 132232932 | 132232071 | 132232071 | Nonsense_Mutation | C | A | p.E751* |
| LUSC | TCGA-60-2708-01 | exon_skip_444132 | 132232015 | 132232932 | 132232283 | 132232283 | Nonsense_Mutation | G | T | p.S680* |
| CHOL | TCGA-W5-AA2Z-01 | exon_skip_444132 | 132232015 | 132232932 | 132232701 | 132232701 | Nonsense_Mutation | C | A | p.E541* |
| CHOL | TCGA-W5-AA2Z-01 | exon_skip_444132 | 132232015 | 132232932 | 132232701 | 132232701 | Nonsense_Mutation | C | A | p.E541X |
| STAD | TCGA-BR-8361-01 | exon_skip_444139 | 132238134 | 132238179 | 132238133 | 132238133 | Splice_Site | C | T | p.S378_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CG-5726-01 |
| Cancer type: STAD | |
| ESID: exon_skip_444132 | |
| Skipped exon start: 132232015 | |
| Skipped exon end: 132232932 | |
| Mutation start: 132232627 | |
| Mutation end: 132232627 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.Q566fs | |
exon_skip_111498_STAD_TCGA-CG-5726-01.png | |
exon_skip_1165_STAD_TCGA-CG-5726-01.png | |
exon_skip_132841_STAD_TCGA-CG-5726-01.png | |
exon_skip_32368_STAD_TCGA-CG-5726-01.png | |
exon_skip_32369_STAD_TCGA-CG-5726-01.png | |
exon_skip_330351_STAD_TCGA-CG-5726-01.png | |
exon_skip_368289_STAD_TCGA-CG-5726-01.png | |
exon_skip_439047_STAD_TCGA-CG-5726-01.png | |
exon_skip_439048_STAD_TCGA-CG-5726-01.png | |
exon_skip_440332_STAD_TCGA-CG-5726-01.png | |
exon_skip_444132_STAD_TCGA-CG-5726-01.png | |
exon_skip_462138_STAD_TCGA-CG-5726-01.png | |
exon_skip_462144_STAD_TCGA-CG-5726-01.png | |
exon_skip_464954_STAD_TCGA-CG-5726-01.png | |
exon_skip_49506_STAD_TCGA-CG-5726-01.png | |
exon_skip_70838_STAD_TCGA-CG-5726-01.png | |
exon_skip_924_STAD_TCGA-CG-5726-01.png | |
exon_skip_94969_STAD_TCGA-CG-5726-01.png | |
| - 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 |
| CCK81_LARGE_INTESTINE | 132232015 | 132232932 | 132232616 | 132232616 | Frame_Shift_Del | T | - | p.K569fs |
| HEC1A_ENDOMETRIUM | 132232015 | 132232932 | 132232626 | 132232627 | Frame_Shift_Ins | - | T | p.Q566fs |
| MEWO_SKIN | 132232015 | 132232932 | 132232802 | 132232803 | Frame_Shift_Ins | - | A | p.R507fs |
| GIMEN_AUTONOMIC_GANGLIA | 132219032 | 132219252 | 132219038 | 132219038 | Missense_Mutation | G | T | p.Q1120K |
| SIHA_CERVIX | 132219032 | 132219252 | 132219038 | 132219038 | Missense_Mutation | G | T | p.Q1120K |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 132219032 | 132219252 | 132219065 | 132219065 | Missense_Mutation | C | T | p.D1111N |
| RERFLCMS_LUNG | 132219032 | 132219252 | 132219116 | 132219116 | Missense_Mutation | C | T | p.A1094T |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 132219032 | 132219252 | 132219119 | 132219119 | Missense_Mutation | C | T | p.A1093T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 132224771 | 132224865 | 132224783 | 132224783 | Missense_Mutation | A | G | p.V907A |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 132224771 | 132224865 | 132224831 | 132224831 | Missense_Mutation | G | A | p.P891L |
| RERFLCAD1_LUNG | 132224771 | 132224865 | 132224860 | 132224860 | Missense_Mutation | C | A | p.K881N |
| SHP77_LUNG | 132228722 | 132228810 | 132228734 | 132228734 | Missense_Mutation | G | A | p.S795F |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 132228722 | 132228810 | 132228797 | 132228797 | Missense_Mutation | T | G | p.N774T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 132228722 | 132228810 | 132228805 | 132228805 | Missense_Mutation | T | A | p.E771D |
| JHUEM1_ENDOMETRIUM | 132232015 | 132232932 | 132232157 | 132232157 | Missense_Mutation | A | G | p.L722P |
| CL34_LARGE_INTESTINE | 132232015 | 132232932 | 132232256 | 132232256 | Missense_Mutation | C | T | p.R689Q |
| HEC251_ENDOMETRIUM | 132232015 | 132232932 | 132232314 | 132232314 | Missense_Mutation | C | T | p.E670K |
| OV90_OVARY | 132232015 | 132232932 | 132232454 | 132232454 | Missense_Mutation | G | C | p.P623R |
| IGR1_SKIN | 132232015 | 132232932 | 132232481 | 132232481 | Missense_Mutation | T | C | p.K614R |
| SNU1197_LARGE_INTESTINE | 132232015 | 132232932 | 132232554 | 132232554 | Missense_Mutation | C | T | p.V590I |
| NCIH82_LUNG | 132232015 | 132232932 | 132232625 | 132232625 | Missense_Mutation | T | G | p.Q566P |
| COLO201_LARGE_INTESTINE | 132232015 | 132232932 | 132232649 | 132232649 | Missense_Mutation | T | G | p.Q558P |
| COLO205_LARGE_INTESTINE | 132232015 | 132232932 | 132232649 | 132232649 | Missense_Mutation | T | G | p.Q558P |
| MZ7MEL_SKIN | 132232015 | 132232932 | 132232706 | 132232706 | Missense_Mutation | C | T | p.G539E |
| NCIH520_LUNG | 132232015 | 132232932 | 132232715 | 132232715 | Missense_Mutation | A | G | p.I536T |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 132240060 | 132240096 | 132240089 | 132240089 | Missense_Mutation | T | C | p.Q353R |
| JHOS2_OVARY | 132262813 | 132262899 | 132262824 | 132262824 | Missense_Mutation | A | C | p.F347V |
| MCC142_SKIN | 132262813 | 132262899 | 132262826 | 132262826 | Missense_Mutation | G | A | p.P346L |
| NCIH1651_LUNG | 132262813 | 132262899 | 132262886 | 132262886 | Missense_Mutation | G | A | p.S326L |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 132232015 | 132232932 | 132232650 | 132232650 | Nonsense_Mutation | G | A | p.Q558* |
| NCIH727_LUNG | 132219032 | 132219252 | 132219033 | 132219033 | Splice_Site | T | C | p.K1121K |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AFF4 |
| 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 |
| exon_skip_444132 | 5 | 132228721:132228810:132232014:132232932:132233921:132234057 | 132232014:132232932 | ENST00000378595.3,ENST00000265343.5 | PAAD | rs739863 | chr5:132232315 | C/T | 4.12e-04 |
| exon_skip_444132 | 5 | 132228721:132228810:132232014:132232932:132233921:132234057 | 132232014:132232932 | ENST00000378595.3,ENST00000265343.5 | PAAD | rs739863 | chr5:132232315 | C/T | 4.17e-04 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AFF4 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AFF4 |
Top |
RelatedDrugs for AFF4 |
| 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 AFF4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AFF4 | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| AFF4 | C0009241 | Cognition Disorders | 1 | CTD_human |
| AFF4 | C0018273 | Growth Disorders | 1 | CTD_human |
| AFF4 | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| AFF4 | C0024115 | Lung diseases | 1 | CTD_human |
| AFF4 | C0028754 | Obesity | 1 | CTD_human;HPO |
| AFF4 | C0282631 | Facies | 1 | CTD_human |
| AFF4 | C4085597 | CHOPS SYNDROME | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|