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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 U2AF1 |
 Gene summary |
| Gene information | Gene symbol | U2AF1 | Gene ID | 7307 |
| Gene name | U2 small nuclear RNA auxiliary factor 1 | |
| Synonyms | FP793|RN|RNU2AF1|U2AF35|U2AFBP | |
| Cytomap | 21q22.3 | |
| Type of gene | protein-coding | |
| Description | splicing factor U2AF 35 kDa subunitU2 small nuclear RNA auxillary factor 1U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunitU2 snRNP auxiliary factor small subunitU2(RNU2) small nuclear RNA auxiliary factor binding proteinsplicing fac | |
| Modification date | 20200313 | |
| 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 U2AF1 |
| 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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ENSG00000160201
| 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 |
| CB | DOWN | ENST00000471250.5 | U2AF1-208:retained_intron:U2AF1 | 3.326555e+01 | -8.905795e-01 | 1.333700e-03 | 6.579527e-03 |
| TC | DOWN | ENST00000515029.2 | POU2AF1-202:lncRNA:POU2AF1 | 4.517957e+00 | -1.108064e+00 | 1.838590e-05 | 4.194875e-04 |
| TC | DOWN | ENST00000530229.5 | POU2AF1-210:lncRNA:POU2AF1 | 1.343885e+00 | -1.246572e+00 | 1.810972e-03 | 1.555868e-02 |
| 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 U2AF1 |
| 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_147641 | chr21 | 43095702:43095743:43100453:43100519:43101366:43101432 | 43100453:43100519 |
| exon_skip_184497 | chr21 | 43100453:43100519:43104315:43104402:43107451:43107524 | 43104315:43104402 |
| exon_skip_209750 | chr21 | 43094655:43094788:43095438:43095536:43095694:43095743 | 43095438:43095536 |
| exon_skip_220826 | chr21 | 43095702:43095743:43100453:43100519:43104315:43104402 | 43100453:43100519 |
| exon_skip_237 | chr21 | 43095702:43095743:43100453:43104402:43107451:43107524 | 43100453:43104402 |
| exon_skip_24171 | chr21 | 43095702:43095743:43101366:43101432:43104315:43104402 | 43101366:43101432 |
| exon_skip_293197 | chr21 | 43100453:43100519:43101366:43101432:43104315:43104402 | 43101366:43101432 |
| 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_220826 | Mayo_CB | 5.703659e-01 | 7.909091e-01 | -2.205432e-01 | 9.827174e-08 |
| exon_skip_24171 | Mayo_CB | 6.596341e-01 | 8.036364e-01 | -1.440022e-01 | 8.753183e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for U2AF1 |
| 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 |
| ENST00000291552 | 43100453 | 43100519 | Frame-shift |
| ENST00000291552 | 43104315 | 43104402 | Frame-shift |
| 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 |
| ENST00000291552 | 43100453 | 43100519 | Frame-shift |
| ENST00000291552 | 43095438 | 43095536 | In-frame |
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Infer the effects of exon skipping event on protein functional features for U2AF1 |
p-ENSG00000160201_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 |
| ENST00000291552 | 979 | 240 | 43095438 | 43095536 | 343 | 440 | 83 | 115 |
| 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 |
| Q01081 | 83 | 115 | 76 | 240 | Alternative sequence | ID=VSP_042667;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q01081 | 83 | 115 | 96 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JMT |
| Q01081 | 83 | 115 | 104 | 118 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JMT |
| Q01081 | 83 | 115 | 2 | 240 | Chain | ID=PRO_0000081994;Note=Splicing factor U2AF 35 kDa subunit |
| Q01081 | 83 | 115 | 65 | 147 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q01081 | 83 | 115 | 64 | 92 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JMT |
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3'-UTR located exon skipping events that lost miRNA binding sites in U2AF1 |
| 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 U2AF1 |
| - 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 U2AF1 |
| 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 U2AF1 |
| 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 U2AF1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP4 | exon_skip_220826 | 5.321857e-01 | 5.227422e-13 |
| CB | RBM45 | exon_skip_220826 | 6.731907e-01 | 2.468061e-22 |
| CB | MATR3 | exon_skip_24171 | -4.129040e-01 | 6.346724e-08 |
| CB | PCBP4 | exon_skip_24171 | 5.596640e-01 | 1.736082e-14 |
| CB | SNRPA | exon_skip_24171 | -4.549012e-01 | 1.702981e-09 |
| CB | RBM45 | exon_skip_24171 | 6.684397e-01 | 6.172309e-22 |
| TC | NOVA1 | exon_skip_220826 | 4.136204e-01 | 5.438184e-08 |
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RelatedDrugs for U2AF1 |
| 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 U2AF1 |
| 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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