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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for AFF1 |
Gene summary |
Gene information | Gene symbol | AFF1 | Gene ID | 4299 |
Gene name | AF4/FMR2 family member 1 | |
Synonyms | AF4|MLLT2|PBM1 | |
Cytomap | 4q21.3-q22.1 | |
Type of gene | protein-coding | |
Description | AF4/FMR2 family member 1ALL1-fused gene from chromosome 4 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2pre-B-cell monocytic leukemia partner 1proto-oncogene AF4 | |
Modification date | 20200313 | |
UniProtAcc | D6RAU0, | |
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 AFF1 |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
STG | UP | ENST00000507468.5 | AFF1-206:protein_coding:AFF1 | 1.323724e+01 | 3.951833e+00 | 5.885287e-05 | 8.095726e-03 |
PG | UP | ENST00000511442.1 | AFF1-207:protein_coding:AFF1 | 1.460425e+01 | 1.019179e+00 | 3.840506e-04 | 7.324369e-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 AFF1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_104083 | chr4 | 87007396:87007424:87046166:87046286:87046695:87046890 | 87046166:87046286 |
exon_skip_106804 | chr4 | 87084120:87084164:87089984:87090070:87091793:87091829 | 87089984:87090070 |
exon_skip_191518 | chr4 | 86948498:86948571:87046166:87046286:87046695:87048049 | 87046166:87046286 |
exon_skip_199805 | chr4 | 87091793:87091829:87094915:87094969:87105628:87105682 | 87094915:87094969 |
exon_skip_22500 | chr4 | 86948498:86948571:87046166:87046286:87046695:87046890 | 87046166:87046286 |
exon_skip_225523 | chr4 | 87084123:87084164:87089984:87090070:87091793:87091824 | 87089984:87090070 |
exon_skip_27110 | chr4 | 87105808:87105845:87108159:87108315:87114367:87115299 | 87108159:87108315 |
exon_skip_86917 | chr4 | 87131793:87131864:87132271:87132408:87134471:87134694 | 87132271:87132408 |
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 AFF1 |
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 |
ENST00000307808 | 87046166 | 87046286 | Frame-shift |
ENST00000307808 | 87108159 | 87108315 | Frame-shift |
ENST00000307808 | 87089984 | 87090070 | 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 |
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 |
ENST00000307808 | 87046166 | 87046286 | Frame-shift |
ENST00000307808 | 87094915 | 87094969 | Frame-shift |
ENST00000307808 | 87108159 | 87108315 | Frame-shift |
ENST00000307808 | 87089984 | 87090070 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AFF1 |
p-ENSG00000172493_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 |
ENST00000307808 | 9407 | 1210 | 87089984 | 87090070 | 1505 | 1590 | 361 | 390 |
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 |
ENST00000307808 | 9407 | 1210 | 87089984 | 87090070 | 1505 | 1590 | 361 | 390 |
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 |
P51825 | 361 | 390 | 1 | 1210 | Chain | ID=PRO_0000215910;Note=AF4/FMR2 family member 1 |
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 |
P51825 | 361 | 390 | 1 | 1210 | Chain | ID=PRO_0000215910;Note=AF4/FMR2 family member 1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AFF1 |
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 AFF1 |
- 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 AFF1 |
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 AFF1 |
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 AFF1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for AFF1 |
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 AFF1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |