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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 AFDN |
 Gene summary |
| Gene information | Gene symbol | AFDN | Gene ID | 4301 |
| Gene name | afadin, adherens junction formation factor | |
| Synonyms | AF6|MLL-AF6|MLLT4|l-afadin | |
| Cytomap | 6q27 | |
| Type of gene | protein-coding | |
| Description | afadinALL1-fused gene from chromosome 6 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4myeloid/lymphoid or mixed-lineage leukemia; translocated to, 4protein AF-6 | |
| Modification date | 20200322 | |
| UniProtAcc | ||
| 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 AFDN |
| 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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ENSG00000130396
| 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 | ENST00000485634.6 | AFDN-213:protein_coding:AFDN | 6.672318e+00 | 1.033887e+00 | 3.792629e-04 | 2.358670e-02 |
| PG | UP | ENST00000392112.5 | AFDN-206:protein_coding:AFDN | 2.641509e+02 | 1.310444e+00 | 8.155438e-05 | 2.361472e-03 |
| CB | DOWN | ENST00000392112.5 | AFDN-206:protein_coding:AFDN | 4.188793e+02 | -1.079934e+00 | 5.382329e-05 | 4.378367e-04 |
| CB | UP | ENST00000476946.2 | AFDN-212:protein_coding:AFDN | 2.977052e+01 | 8.008620e-01 | 4.508641e-03 | 1.807395e-02 |
| TC | UP | ENST00000507679.1 | AFDN-217:lncRNA:AFDN | 2.986445e+00 | 1.010727e+00 | 9.684418e-04 | 9.661661e-03 |
| 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 AFDN |
| 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_105526 | chr6 | 167911284:167911489:167913403:167913423:167914168:167914177 | 167913403:167913423 |
| exon_skip_115511 | chr6 | 167925005:167925091:167943129:167943191:167943402:167943475 | 167943129:167943191 |
| exon_skip_129630 | chr6 | 167962439:167962567:167965757:167965853:167969114:167969198 | 167965757:167965853 |
| exon_skip_143212 | chr6 | 167827133:167827237:167864551:167864746:167870383:167870498 | 167864551:167864746 |
| exon_skip_148994 | chr6 | 167889215:167889326:167890862:167891029:167896878:167896972 | 167890862:167891029 |
| exon_skip_16839 | chr6 | 167890871:167891029:167893862:167893906:167896878:167896972 | 167893862:167893906 |
| exon_skip_172522 | chr6 | 167870386:167870498:167872217:167872377:167875335:167875495 | 167872217:167872377 |
| exon_skip_177719 | chr6 | 167962439:167962567:167965757:167966045:167969114:167969198 | 167965757:167966045 |
| exon_skip_184168 | chr6 | 167925005:167925091:167943129:167943194:167943402:167943475 | 167943129:167943194 |
| exon_skip_185752 | chr6 | 167914644:167914738:167915168:167915433:167917089:167917232 | 167915168:167915433 |
| exon_skip_20467 | chr6 | 167946707:167946901:167947853:167947944:167948293:167948478 | 167947853:167947944 |
| exon_skip_244528 | chr6 | 167890862:167891029:167893862:167893906:167896878:167896972 | 167893862:167893906 |
| exon_skip_256244 | chr6 | 167951949:167952187:167954461:167954493:167962433:167962567 | 167954461:167954493 |
| exon_skip_276723 | chr6 | 167896878:167896972:167898205:167898467:167902317:167902386 | 167898205:167898467 |
| exon_skip_291304 | chr6 | 167952126:167952187:167954461:167954493:167962433:167962567 | 167954461:167954493 |
| exon_skip_30713 | chr6 | 167918735:167918933:167922856:167922959:167925005:167925091 | 167922856:167922959 |
| exon_skip_56144 | chr6 | 167952126:167952187:167954458:167954493:167962433:167962567 | 167954458:167954493 |
| exon_skip_7074 | chr6 | 167827133:167827237:167864551:167864746:167870386:167870498 | 167864551:167864746 |
| exon_skip_90334 | chr6 | 167870386:167870498:167872214:167872377:167875335:167875495 | 167872214:167872377 |
| exon_skip_96201 | chr6 | 167911284:167911489:167913403:167913423:167914168:167914313 | 167913403:167913423 |
| exon_skip_96810 | chr6 | 167951949:167952187:167954458:167954493:167962433:167962567 | 167954458:167954493 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_244528 | MSBB_PG | 4.092188e-01 | 5.711765e-01 | -1.619577e-01 | 2.208759e-03 |
| exon_skip_96201 | MSBB_PG | 5.981148e-01 | 4.524490e-01 | 1.456658e-01 | 3.062400e-05 |
| exon_skip_90334 | Mayo_CB | 7.035366e-01 | 8.538356e-01 | -1.502990e-01 | 1.042258e-07 |
| exon_skip_172522 | Mayo_CB | 6.329487e-01 | 7.832353e-01 | -1.502866e-01 | 3.144345e-06 |
| exon_skip_16839 | Mayo_TC | 2.048780e-01 | 3.121212e-01 | -1.072432e-01 | 5.016878e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for AFDN |
| 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 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for AFDN |
p-ENSG00000130396_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AFDN |
| 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 AFDN |
| - 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 AFDN |
| 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 AFDN |
| 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 AFDN |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_90334 | -5.183358e-01 | 4.915146e-12 |
| CB | RBM3 | exon_skip_90334 | 4.615620e-01 | 1.497099e-09 |
| CB | PCBP1 | exon_skip_90334 | -4.223265e-01 | 4.408751e-08 |
| CB | PCBP4 | exon_skip_90334 | 5.479189e-01 | 1.598278e-13 |
| CB | TRA2A | exon_skip_90334 | -6.046755e-01 | 7.974677e-17 |
| CB | HNRNPA2B1 | exon_skip_90334 | -5.051702e-01 | 2.036064e-11 |
| CB | NUP42 | exon_skip_90334 | 4.689143e-01 | 7.562710e-10 |
| CB | PTBP1 | exon_skip_90334 | -4.896103e-01 | 1.011834e-10 |
| CB | RBM6 | exon_skip_172522 | -5.565681e-01 | 3.004241e-13 |
| CB | RBM3 | exon_skip_172522 | 5.377864e-01 | 2.567759e-12 |
| CB | PCBP4 | exon_skip_172522 | 5.523792e-01 | 4.904773e-13 |
| CB | TRA2A | exon_skip_172522 | -5.478904e-01 | 8.231383e-13 |
| CB | HNRNPA2B1 | exon_skip_172522 | -4.288825e-01 | 6.627028e-08 |
| CB | NUP42 | exon_skip_172522 | 5.807640e-01 | 1.540932e-14 |
| CB | PTBP1 | exon_skip_172522 | -4.539013e-01 | 8.715258e-09 |
| CB | PABPC1 | exon_skip_172522 | 4.089636e-01 | 2.975724e-07 |
| CB | PABPC4 | exon_skip_172522 | 4.225072e-01 | 1.083144e-07 |
| CB | ELAVL1 | exon_skip_96810 | 4.098038e-01 | 8.133423e-08 |
| CB | RALYL | exon_skip_96810 | 5.403517e-01 | 1.962495e-13 |
| CB | ELAVL1 | exon_skip_41573 | 4.053766e-01 | 2.661506e-07 |
| CB | ELAVL1 | exon_skip_144501 | 4.406457e-01 | 4.066458e-08 |
| FL | MSI1 | exon_skip_96810 | -5.763344e-01 | 6.430236e-15 |
| FL | RALYL | exon_skip_96810 | 5.800592e-01 | 3.920721e-15 |
| HCC | RBM3 | exon_skip_90334 | 4.825336e-01 | 2.458975e-16 |
| HCC | RBM3 | exon_skip_172522 | 4.757847e-01 | 2.338541e-15 |
| HCC | RBM5 | exon_skip_244528 | -6.272430e-01 | 4.658497e-30 |
| HCC | TRA2A | exon_skip_244528 | -4.050562e-01 | 9.130617e-12 |
| HCC | RBM45 | exon_skip_244528 | -5.432306e-01 | 1.628535e-21 |
| HCC | SRSF1 | exon_skip_244528 | -4.772174e-01 | 2.626558e-16 |
| HCC | HNRNPF | exon_skip_244528 | -6.260158e-01 | 6.487134e-30 |
| HCC | MSI1 | exon_skip_96810 | -5.751014e-01 | 3.581813e-25 |
| HCC | FUBP1 | exon_skip_96810 | -5.027726e-01 | 1.055690e-18 |
| HCC | EIF4G2 | exon_skip_96810 | -5.829588e-01 | 5.644993e-26 |
| IFG | RBM3 | exon_skip_90334 | 5.629227e-01 | 1.817155e-03 |
| IFG | RBM3 | exon_skip_172522 | 6.268043e-01 | 1.047041e-03 |
| IFG | NUP42 | exon_skip_172522 | 4.511365e-01 | 2.691926e-02 |
| IFG | EWSR1 | exon_skip_172522 | 4.249444e-01 | 3.845789e-02 |
| IFG | HNRNPF | exon_skip_244528 | -4.840351e-01 | 9.057061e-03 |
| IFG | PABPC1 | exon_skip_96201 | 4.065198e-01 | 3.181603e-02 |
| IFG | RALYL | exon_skip_96810 | 5.109703e-01 | 6.455442e-03 |
| PCC | RBM3 | exon_skip_90334 | 4.747538e-01 | 3.957899e-12 |
| PCC | RBM3 | exon_skip_172522 | 4.303229e-01 | 8.773929e-10 |
| PCC | HNRNPF | exon_skip_16839 | -5.817292e-01 | 3.852380e-19 |
| PCC | PABPC1 | exon_skip_96201 | 4.256836e-01 | 3.659172e-10 |
| PCC | MSI1 | exon_skip_96810 | -5.141057e-01 | 2.710505e-15 |
| PCC | RALYL | exon_skip_96810 | 4.531176e-01 | 7.987901e-12 |
| PCC | MSI1 | exon_skip_41573 | -4.142068e-01 | 5.067117e-09 |
| PCC | RALYL | exon_skip_41573 | 4.737933e-01 | 1.098675e-11 |
| PG | RBM3 | exon_skip_172522 | 4.332101e-01 | 1.305847e-08 |
| PG | NUP42 | exon_skip_244528 | 4.568401e-01 | 1.293798e-10 |
| PG | SRSF1 | exon_skip_244528 | 4.286584e-01 | 2.145294e-09 |
| PG | SRSF9 | exon_skip_244528 | 4.089087e-01 | 1.324118e-08 |
| TC | RBM6 | exon_skip_90334 | -4.616981e-01 | 2.138464e-09 |
| TC | RBM3 | exon_skip_90334 | 4.338702e-01 | 2.350671e-08 |
| TC | RBM6 | exon_skip_172522 | -4.948687e-01 | 5.924364e-10 |
| TC | RBM3 | exon_skip_172522 | 4.233224e-01 | 2.079724e-07 |
| TC | NUP42 | exon_skip_16839 | 6.132317e-01 | 1.181491e-16 |
| TC | RALYL | exon_skip_56144 | 8.922502e-01 | 9.689639e-56 |
| TC | EIF4G2 | exon_skip_56144 | 4.155715e-01 | 5.642361e-08 |
| TC | RALYL | exon_skip_261133 | 6.632407e-01 | 5.559897e-20 |
| TC | RALYL | exon_skip_291304 | 6.620596e-01 | 6.609935e-21 |
| TC | RALYL | exon_skip_256082 | 6.292178e-01 | 1.810660e-17 |
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RelatedDrugs for AFDN |
| 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 AFDN |
| 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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