|
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 PBX1 |
Gene summary |
Gene information | Gene symbol | PBX1 | Gene ID | 5087 |
Gene name | PBX homeobox 1 | |
Synonyms | CAKUHED | |
Cytomap | 1q23.3 | |
Type of gene | protein-coding | |
Description | pre-B-cell leukemia transcription factor 1homeobox protein PBX1homeobox protein PRLpre-B-cell leukemia homeobox 1 | |
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 |
Top |
Gene structures and expression levels for PBX1 |
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 |
PG | UP | ENST00000340699.7 | PBX1-201:protein_coding:PBX1 | 2.161619e+00 | 2.696889e+00 | 3.374195e-04 | 6.661594e-03 |
CB | UP | ENST00000559560.1 | PBX1-216:protein_coding:PBX1 | 1.508383e+00 | 1.031024e+00 | 9.531652e-05 | 7.115985e-04 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PBX1 |
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_122499 | chr1 | 164559407:164559529:164559722:164560013:164563238:164563311 | 164559722:164560013 |
exon_skip_139821 | chr1 | 164807542:164807677:164811990:164812149:164821537:164821626 | 164811990:164812149 |
exon_skip_169566 | chr1 | 164811990:164812149:164820072:164820184:164821537:164821626 | 164820072:164820184 |
exon_skip_20797 | chr1 | 164811990:164812149:164820072:164820184:164821537:164821559 | 164820072:164820184 |
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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PBX1 |
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 |
ENST00000420696 | 164820072 | 164820184 | 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 |
ENST00000420696 | 164820072 | 164820184 | Frame-shift |
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 |
ENST00000420696 | 164820072 | 164820184 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for PBX1 |
p-ENSG00000185630_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 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in PBX1 |
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 |
Top |
SNVs in the skipped exons for PBX1 |
- 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 |
Top |
AD stage-associated exon skippint events for PBX1 |
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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PBX1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
PCC | exon_skip_169566 | rs1780360 | chr1:164766199 | 1.858705e-05 | 4.334946e-03 |
Top |
Correlation with RNA binding proteins (RBPs) for PBX1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RALYL | exon_skip_169566 | 5.122256e-01 | 1.118784e-11 |
CB | SRSF9 | exon_skip_169566 | 4.513460e-01 | 4.233215e-09 |
CB | NOVA1 | exon_skip_169566 | 4.563827e-01 | 2.704384e-09 |
FL | RBM24 | exon_skip_169566 | 5.203078e-01 | 1.674164e-14 |
FL | FUBP1 | exon_skip_169566 | 5.116914e-01 | 5.283305e-14 |
FL | RALYL | exon_skip_169566 | 6.291209e-01 | 3.192438e-22 |
FL | SRSF9 | exon_skip_169566 | 5.790370e-01 | 2.598817e-18 |
FL | ESRP1 | exon_skip_169566 | 4.396403e-01 | 2.463930e-10 |
FL | NOVA1 | exon_skip_169566 | 5.152327e-01 | 3.307316e-14 |
HCC | RBM25 | exon_skip_169566 | -4.575127e-01 | 1.777779e-15 |
HCC | SFPQ | exon_skip_169566 | -5.598100e-01 | 7.771162e-24 |
HCC | ZNF638 | exon_skip_169566 | -4.915997e-01 | 5.891280e-18 |
HCC | RBM5 | exon_skip_169566 | -6.048666e-01 | 1.570837e-28 |
HCC | IGF2BP2 | exon_skip_169566 | -4.451712e-01 | 1.206869e-14 |
HCC | TRNAU1AP | exon_skip_169566 | -5.062997e-01 | 4.097601e-19 |
HCC | SF1 | exon_skip_169566 | -4.579338e-01 | 1.663015e-15 |
IFG | RBM25 | exon_skip_169566 | -4.291463e-01 | 2.549990e-02 |
IFG | IGF2BP2 | exon_skip_169566 | -4.671391e-01 | 1.402336e-02 |
IFG | FUBP1 | exon_skip_169566 | -4.917988e-01 | 9.174535e-03 |
PCC | TRNAU1AP | exon_skip_169566 | -4.105896e-01 | 6.031619e-10 |
PCC | RALYL | exon_skip_169566 | 4.171762e-01 | 2.997139e-10 |
PG | RBM25 | exon_skip_169566 | 4.178341e-01 | 7.708174e-08 |
PG | RBM24 | exon_skip_169566 | 5.690973e-01 | 1.651966e-14 |
PG | FUBP1 | exon_skip_169566 | 4.164877e-01 | 8.567527e-08 |
PG | RALYL | exon_skip_169566 | 7.001703e-01 | 7.410416e-24 |
PG | SRSF9 | exon_skip_169566 | 4.174093e-01 | 7.969961e-08 |
PG | NOVA1 | exon_skip_169566 | 5.855262e-01 | 1.875115e-15 |
STG | RBM24 | exon_skip_169566 | 4.192777e-01 | 1.083525e-04 |
STG | RALYL | exon_skip_169566 | 5.651165e-01 | 4.735075e-08 |
STG | NOVA1 | exon_skip_169566 | 4.628971e-01 | 1.536511e-05 |
TC | RBM24 | exon_skip_169566 | 6.694965e-01 | 3.732990e-22 |
TC | RALYL | exon_skip_169566 | 7.520665e-01 | 2.072913e-30 |
TC | ESRP1 | exon_skip_169566 | 5.460903e-01 | 8.102662e-14 |
TC | NOVA1 | exon_skip_169566 | 6.588503e-01 | 2.799569e-21 |
Top |
RelatedDrugs for PBX1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for PBX1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |