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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 AFF3 |
 Gene summary |
| Gene information | Gene symbol | AFF3 | Gene ID | 3899 |
| Gene name | AF4/FMR2 family member 3 | |
| Synonyms | LAF4|MLLT2-like | |
| Cytomap | 2q11.2 | |
| Type of gene | protein-coding | |
| Description | AF4/FMR2 family member 3MLLT2-related proteinlymphoid nuclear protein 4lymphoid nuclear protein related to AF4protein LAF-4 | |
| Modification date | 20180523 | |
| UniProtAcc | P51826 | |
| Context | PubMed: AFF3 [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 |
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Exon skipping events across known transcript of Ensembl for AFF3 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 AFF3 |
| 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 AFF3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_342182 | 2 | 100175336:100175430:100176826:100176898:100181948:100182085 | 100176826:100176898 | ENSG00000144218.14 | ENST00000356421.2,ENST00000445815.1,ENST00000409579.1,ENST00000317233.4,ENST00000409236.2 |
| exon_skip_342183 | 2 | 100209656:100210751:100217896:100218083:100266087:100266128 | 100217896:100218083 | ENSG00000144218.14 | ENST00000356421.2,ENST00000409579.1,ENST00000317233.4,ENST00000409236.2 |
| exon_skip_342185 | 2 | 100288999:100289051:100343538:100343590:100360565:100360602 | 100343538:100343590 | ENSG00000144218.14 | ENST00000356421.2,ENST00000409579.1,ENST00000317233.4,ENST00000409236.2,ENST00000430789.1 |
| exon_skip_342186 | 2 | 100360565:100360602:100368682:100368763:100453938:100453986 | 100368682:100368763 | ENSG00000144218.14 | ENST00000356421.2,ENST00000409579.1,ENST00000317233.4,ENST00000409236.2,ENST00000430789.1 |
| exon_skip_342187 | 2 | 100368682:100368763:100453938:100453986:100623093:100623307 | 100453938:100453986 | ENSG00000144218.14 | ENST00000356421.2,ENST00000409579.1,ENST00000317233.4,ENST00000409236.2,ENST00000430789.1 |
| exon_skip_342198 | 2 | 100625360:100625394:100627958:100628033:100720863:100720980 | 100627958:100628033 | ENSG00000144218.14 | ENST00000415384.1,ENST00000356421.2,ENST00000409579.1,ENST00000440445.1 |
| exon_skip_342211 | 2 | 100720863:100720980:100721965:100722045:100758945:100759037 | 100721965:100722045 | ENSG00000144218.14 | ENST00000317233.4,ENST00000423966.1 |
| exon_skip_342212 | 2 | 100720863:100720980:100745685:100745768:100758945:100759037 | 100745685:100745768 | ENSG00000144218.14 | ENST00000416492.1 |
| exon_skip_342217 | 2 | 100728847:100728986:100745685:100745768:100758945:100759037 | 100745685:100745768 | ENSG00000144218.14 | ENST00000483600.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AFF3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_342183 | 2 | 100209656:100210751:100217896:100218083:100266087:100266128 | 100217896:100218083 | ENSG00000144218.14 | ENST00000409236.2,ENST00000317233.4,ENST00000356421.2,ENST00000409579.1 |
| exon_skip_342185 | 2 | 100288999:100289051:100343538:100343590:100360565:100360602 | 100343538:100343590 | ENSG00000144218.14 | ENST00000409236.2,ENST00000317233.4,ENST00000356421.2,ENST00000409579.1,ENST00000430789.1 |
| exon_skip_342186 | 2 | 100360565:100360602:100368682:100368763:100453938:100453986 | 100368682:100368763 | ENSG00000144218.14 | ENST00000409236.2,ENST00000317233.4,ENST00000356421.2,ENST00000409579.1,ENST00000430789.1 |
| exon_skip_342187 | 2 | 100368682:100368763:100453938:100453986:100623093:100623307 | 100453938:100453986 | ENSG00000144218.14 | ENST00000409236.2,ENST00000317233.4,ENST00000356421.2,ENST00000409579.1,ENST00000430789.1 |
| exon_skip_342198 | 2 | 100625360:100625394:100627958:100628033:100720863:100720980 | 100627958:100628033 | ENSG00000144218.14 | ENST00000356421.2,ENST00000409579.1,ENST00000440445.1,ENST00000415384.1 |
| exon_skip_342211 | 2 | 100720863:100720980:100721965:100722045:100758945:100759037 | 100721965:100722045 | ENSG00000144218.14 | ENST00000317233.4,ENST00000423966.1 |
| exon_skip_342212 | 2 | 100720863:100720980:100745685:100745768:100758945:100759037 | 100745685:100745768 | ENSG00000144218.14 | ENST00000416492.1 |
| exon_skip_342217 | 2 | 100728847:100728986:100745685:100745768:100758945:100759037 | 100745685:100745768 | ENSG00000144218.14 | ENST00000483600.1 |
| 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 AFF3 |
| 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 |
| ENST00000317233 | 100721965 | 100722045 | 3UTR-3UTR |
| ENST00000317233 | 100217896 | 100218083 | Frame-shift |
| ENST00000409236 | 100217896 | 100218083 | Frame-shift |
| ENST00000317233 | 100343538 | 100343590 | Frame-shift |
| ENST00000409236 | 100343538 | 100343590 | Frame-shift |
| ENST00000317233 | 100176826 | 100176898 | In-frame |
| ENST00000409236 | 100176826 | 100176898 | In-frame |
| ENST00000317233 | 100368682 | 100368763 | In-frame |
| ENST00000409236 | 100368682 | 100368763 | In-frame |
| ENST00000317233 | 100453938 | 100453986 | In-frame |
| ENST00000409236 | 100453938 | 100453986 | 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 |
| ENST00000317233 | 100721965 | 100722045 | 3UTR-3UTR |
| ENST00000317233 | 100217896 | 100218083 | Frame-shift |
| ENST00000409236 | 100217896 | 100218083 | Frame-shift |
| ENST00000317233 | 100343538 | 100343590 | Frame-shift |
| ENST00000409236 | 100343538 | 100343590 | Frame-shift |
| ENST00000317233 | 100368682 | 100368763 | In-frame |
| ENST00000409236 | 100368682 | 100368763 | In-frame |
| ENST00000317233 | 100453938 | 100453986 | In-frame |
| ENST00000409236 | 100453938 | 100453986 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AFF3 |
| 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 |
| ENST00000317233 | 8152 | 1226 | 100453938 | 100453986 | 1110 | 1157 | 291 | 307 |
| ENST00000409236 | 9424 | 1226 | 100453938 | 100453986 | 987 | 1034 | 291 | 307 |
| ENST00000317233 | 8152 | 1226 | 100368682 | 100368763 | 1158 | 1238 | 307 | 334 |
| ENST00000409236 | 9424 | 1226 | 100368682 | 100368763 | 1035 | 1115 | 307 | 334 |
| ENST00000317233 | 8152 | 1226 | 100176826 | 100176898 | 3356 | 3427 | 1040 | 1063 |
| ENST00000409236 | 9424 | 1226 | 100176826 | 100176898 | 3233 | 3304 | 1040 | 1063 |
| 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 |
| ENST00000317233 | 8152 | 1226 | 100453938 | 100453986 | 1110 | 1157 | 291 | 307 |
| ENST00000409236 | 9424 | 1226 | 100453938 | 100453986 | 987 | 1034 | 291 | 307 |
| ENST00000317233 | 8152 | 1226 | 100368682 | 100368763 | 1158 | 1238 | 307 | 334 |
| ENST00000409236 | 9424 | 1226 | 100368682 | 100368763 | 1035 | 1115 | 307 | 334 |
| 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 |
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SNVs in the skipped exons for AFF3 |
| - 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-A1EG-01 | exon_skip_342182 | 100176827 | 100176898 | 100176865 | 100176865 | Frame_Shift_Del | G | - | p.P1051fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_342182 | 100176827 | 100176898 | 100176879 | 100176879 | Frame_Shift_Del | T | - | p.T1047fs |
| COAD | TCGA-AZ-6601-01 | exon_skip_342183 | 100217897 | 100218083 | 100217914 | 100217914 | Frame_Shift_Del | G | - | p.H452fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_342186 | 100368683 | 100368763 | 100368698 | 100368698 | Frame_Shift_Del | A | - | p.F329fs |
| STAD | TCGA-HU-A4HD-01 | exon_skip_342183 | 100217897 | 100218083 | 100217914 | 100217915 | Frame_Shift_Ins | - | G | p.H477fs |
| STAD | TCGA-CG-5726-01 | exon_skip_342185 | 100343539 | 100343590 | 100343570 | 100343571 | Frame_Shift_Ins | - | TG | p.E379fs |
| ESCA | TCGA-R6-A6Y2-01 | exon_skip_342183 | 100217897 | 100218083 | 100217961 | 100217961 | Nonsense_Mutation | G | T | p.S461* |
| ESCA | TCGA-R6-A6Y2-01 | exon_skip_342183 | 100217897 | 100218083 | 100217961 | 100217961 | Nonsense_Mutation | G | T | p.S461X |
| STAD | TCGA-CD-8535-01 | exon_skip_342186 | 100368683 | 100368763 | 100368730 | 100368730 | Nonsense_Mutation | G | A | p.Q319* |
| STAD | TCGA-CD-8535-01 | exon_skip_342186 | 100368683 | 100368763 | 100368730 | 100368730 | Nonsense_Mutation | G | A | p.Q344X |
| LUSC | TCGA-33-4566-01 | exon_skip_342185 | 100343539 | 100343590 | 100343538 | 100343538 | Splice_Site | C | T | p.S389_splice |
| THYM | TCGA-ZB-A96A-01 | exon_skip_342185 | 100343539 | 100343590 | 100343538 | 100343538 | Splice_Site | C | A | . |
| PAAD | TCGA-IB-7651-01 | exon_skip_342187 | 100453939 | 100453986 | 100453987 | 100453987 | Splice_Site | C | 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 |
| GP2D_LARGE_INTESTINE | 100368683 | 100368763 | 100368715 | 100368716 | Frame_Shift_Ins | - | T | p.V324fs |
| HEC251_ENDOMETRIUM | 100217897 | 100218083 | 100217990 | 100217990 | Missense_Mutation | G | T | p.S426R |
| HEC1_ENDOMETRIUM | 100217897 | 100218083 | 100218010 | 100218010 | Missense_Mutation | C | T | p.G420S |
| PEDS005TPFAD_KIDNEY | 100217897 | 100218083 | 100218016 | 100218016 | Missense_Mutation | T | C | p.S418G |
| NCIH748_LUNG | 100368683 | 100368763 | 100368697 | 100368697 | Missense_Mutation | G | T | p.P330T |
| D283MED_CENTRAL_NERVOUS_SYSTEM | 100453939 | 100453986 | 100453946 | 100453946 | Missense_Mutation | A | G | p.I305T |
| MEWO_SKIN | 100343539 | 100343590 | 100343539 | 100343539 | Splice_Site | G | A | p.S364L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AFF3 |
| 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 AFF3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AFF3 |
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RelatedDrugs for AFF3 |
| 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 AFF3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AFF3 | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
| AFF3 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
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