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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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 | 20200313 | |
| UniProtAcc | A0A5F9ZHE5, A0A5F9ZHH7, A0A5F9ZHU9, A0A5F9ZHV2, A0A5F9ZHV9, | |
| Context |
| 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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Gene structures and expression levels for AFF3 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000144218
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000409579.5 | AFF3-203:protein_coding:AFF3 | 1.031061e+01 | 6.521608e+00 | 1.594087e-03 | 4.856605e-02 |
| CB | UP | ENST00000672269.1 | AFF3-220:nonsense_mediated_decay:AFF3 | 1.112226e+01 | 8.194947e-01 | 3.501497e-07 | 6.143160e-06 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for AFF3 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_147515 | chr2 | 100008899:100008932:100011497:100011571:100104402:100104518 | 100011497:100011571 |
| exon_skip_1677 | chr2 | 99752221:99752301:99776569:99776708:99777237:99777929 | 99776569:99776708 |
| exon_skip_222062 | chr2 | 99744104:99744140:99752221:99752301:99837477:99837524 | 99752221:99752301 |
| exon_skip_239110 | chr2 | 99568852:99568915:99578327:99578451:99582798:99582999 | 99578327:99578451 |
| exon_skip_260162 | chr2 | 99558875:99558968:99560365:99560436:99565487:99565623 | 99560365:99560436 |
| exon_skip_28976 | chr2 | 99672538:99672589:99727077:99727128:99744104:99744140 | 99727077:99727128 |
| exon_skip_39326 | chr2 | 100008917:100008932:100011497:100011571:100104402:100104518 | 100011497:100011571 |
| exon_skip_42678 | chr2 | 100011497:100011571:100063126:100063249:100104402:100104518 | 100063126:100063249 |
| exon_skip_62429 | chr2 | 99560365:99560436:99565487:99565623:99568852:99568915 | 99565487:99565623 |
| exon_skip_74207 | chr2 | 99752221:99752301:99837477:99837524:100006632:100006775 | 99837477:99837524 |
| exon_skip_83637 | chr2 | 99727077:99727128:99744104:99744140:99752221:99752301 | 99744104:99744140 |
| exon_skip_85872 | chr2 | 100008899:100008932:100011497:100011571:100063126:100063249 | 100011497:100011571 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000317233 | 99560365 | 99560436 | In-frame |
| ENST00000409236 | 99560365 | 99560436 | In-frame |
| ENST00000317233 | 99752221 | 99752301 | In-frame |
| ENST00000409236 | 99752221 | 99752301 | In-frame |
| ENST00000317233 | 99837477 | 99837524 | In-frame |
| ENST00000409236 | 99837477 | 99837524 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000317233 | 99752221 | 99752301 | In-frame |
| ENST00000409236 | 99752221 | 99752301 | In-frame |
| ENST00000317233 | 99837477 | 99837524 | In-frame |
| ENST00000409236 | 99837477 | 99837524 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000317233 | 99565487 | 99565623 | Frame-shift |
| ENST00000409236 | 99565487 | 99565623 | Frame-shift |
| ENST00000317233 | 99578327 | 99578451 | Frame-shift |
| ENST00000409236 | 99578327 | 99578451 | Frame-shift |
| ENST00000317233 | 99727077 | 99727128 | Frame-shift |
| ENST00000409236 | 99727077 | 99727128 | Frame-shift |
| ENST00000317233 | 99744104 | 99744140 | Frame-shift |
| ENST00000409236 | 99744104 | 99744140 | Frame-shift |
| ENST00000317233 | 99752221 | 99752301 | In-frame |
| ENST00000409236 | 99752221 | 99752301 | In-frame |
| ENST00000317233 | 99837477 | 99837524 | In-frame |
| ENST00000409236 | 99837477 | 99837524 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AFF3 |
p-ENSG00000144218_img4.png |
| Loci of skipped exons in ROSMAP 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 | 99837477 | 99837524 | 1110 | 1156 | 291 | 306 |
| ENST00000409236 | 9866 | 1226 | 99837477 | 99837524 | 987 | 1033 | 291 | 306 |
| ENST00000317233 | 8152 | 1226 | 99752221 | 99752301 | 1158 | 1237 | 307 | 333 |
| ENST00000409236 | 9866 | 1226 | 99752221 | 99752301 | 1035 | 1114 | 307 | 333 |
| ENST00000317233 | 8152 | 1226 | 99560365 | 99560436 | 3356 | 3426 | 1040 | 1063 |
| ENST00000409236 | 9866 | 1226 | 99560365 | 99560436 | 3233 | 3303 | 1040 | 1063 |
| Loci of skipped exons in MSBB 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 | 99837477 | 99837524 | 1110 | 1156 | 291 | 306 |
| ENST00000409236 | 9866 | 1226 | 99837477 | 99837524 | 987 | 1033 | 291 | 306 |
| ENST00000317233 | 8152 | 1226 | 99752221 | 99752301 | 1158 | 1237 | 307 | 333 |
| ENST00000409236 | 9866 | 1226 | 99752221 | 99752301 | 1035 | 1114 | 307 | 333 |
| Loci of skipped exons in Mayo 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 | 99837477 | 99837524 | 1110 | 1156 | 291 | 306 |
| ENST00000409236 | 9866 | 1226 | 99837477 | 99837524 | 987 | 1033 | 291 | 306 |
| ENST00000317233 | 8152 | 1226 | 99752221 | 99752301 | 1158 | 1237 | 307 | 333 |
| ENST00000409236 | 9866 | 1226 | 99752221 | 99752301 | 1035 | 1114 | 307 | 333 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P51826 | 291 | 306 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| P51826 | 291 | 306 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| P51826 | 307 | 333 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| P51826 | 307 | 333 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| P51826 | 1040 | 1063 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| P51826 | 1040 | 1063 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| P51826 | 291 | 306 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| P51826 | 291 | 306 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| P51826 | 307 | 333 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| P51826 | 307 | 333 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| P51826 | 291 | 306 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| P51826 | 291 | 306 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| P51826 | 307 | 333 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
| P51826 | 307 | 333 | 1 | 1226 | Chain | ID=PRO_0000215916;Note=AF4/FMR2 family member 3 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AFF3 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for AFF3 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for AFF3 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AFF3 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for AFF3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| TC | KHDRBS3 | exon_skip_147515 | 4.346731e-01 | 1.349215e-06 |
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RelatedDrugs for AFF3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| 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 |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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