|
||||||
|
 | |
| |
| |
| 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 HABP4 |
 Gene summary |
| Gene information | Gene symbol | HABP4 | Gene ID | 22927 |
| Gene name | hyaluronan binding protein 4 | |
| Synonyms | IHABP-4|IHABP4|Ki-1/57|SERBP1L | |
| Cytomap | 9q22.32 | |
| Type of gene | protein-coding | |
| Description | intracellular hyaluronan-binding protein 4chromodomain helicase DNA binding protein 3 interacting proteinintracellular antigen detected by monoclonal antibody Ki-1ki-1/57 intracellular antigen | |
| Modification date | 20200313 | |
| UniProtAcc | Q5JVS0, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| HABP4 | GO:0030578 | PML body organization | 28695742 |
| HABP4 | GO:0043392 | negative regulation of DNA binding | 15862299 |
Top |
Gene structures and expression levels for HABP4 |
| 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. |
 |
ENSG00000130956
| 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 |
| CB | DOWN | ENST00000375251.7 | HABP4-202:protein_coding:HABP4 | 1.351641e+01 | -1.971687e+00 | 9.594189e-07 | 1.445517e-05 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for HABP4 |
| 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_108771 | chr9 | 96465715:96465778:96471011:96471094:96484462:96484496 | 96471011:96471094 |
| exon_skip_194499 | chr9 | 96465715:96465778:96471011:96471094:96484462:96484633 | 96471011:96471094 |
| exon_skip_226392 | chr9 | 96465337:96465498:96465710:96465778:96471011:96471094 | 96465710:96465778 |
| exon_skip_252057 | chr9 | 96458384:96458541:96465337:96465498:96465710:96465778 | 96465337:96465498 |
| exon_skip_252996 | chr9 | 96450201:96450628:96458379:96458541:96484462:96484633 | 96458379:96458541 |
| exon_skip_35128 | chr9 | 96458438:96458541:96465337:96465498:96465710:96465778 | 96465337:96465498 |
| exon_skip_43420 | chr9 | 96458379:96458541:96465337:96465498:96465710:96465778 | 96465337:96465498 |
| 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 HABP4 |
| 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 |
| ENST00000375249 | 96465337 | 96465498 | In-frame |
| ENST00000375249 | 96465710 | 96465778 | In-frame |
| ENST00000375249 | 96471011 | 96471094 | 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 |
| ENST00000375249 | 96465337 | 96465498 | In-frame |
| ENST00000375249 | 96471011 | 96471094 | 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 |
| ENST00000375249 | 96465337 | 96465498 | In-frame |
| ENST00000375249 | 96465710 | 96465778 | In-frame |
| ENST00000375249 | 96471011 | 96471094 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for HABP4 |
p-ENSG00000130956_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 |
| ENST00000375249 | 2632 | 413 | 96465337 | 96465498 | 589 | 749 | 171 | 224 |
| ENST00000375249 | 2632 | 413 | 96465710 | 96465778 | 751 | 818 | 225 | 247 |
| ENST00000375249 | 2632 | 413 | 96471011 | 96471094 | 820 | 902 | 248 | 275 |
| 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 |
| ENST00000375249 | 2632 | 413 | 96465337 | 96465498 | 589 | 749 | 171 | 224 |
| ENST00000375249 | 2632 | 413 | 96471011 | 96471094 | 820 | 902 | 248 | 275 |
| 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 |
| ENST00000375249 | 2632 | 413 | 96465337 | 96465498 | 589 | 749 | 171 | 224 |
| ENST00000375249 | 2632 | 413 | 96465710 | 96465778 | 751 | 818 | 225 | 247 |
| ENST00000375249 | 2632 | 413 | 96471011 | 96471094 | 820 | 902 | 248 | 275 |
| 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 |
| Q5JVS0 | 171 | 224 | 172 | 276 | Alternative sequence | ID=VSP_052194;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5JVS0 | 171 | 224 | 1 | 413 | Chain | ID=PRO_0000257972;Note=Intracellular hyaluronan-binding protein 4 |
| Q5JVS0 | 225 | 247 | 172 | 276 | Alternative sequence | ID=VSP_052194;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5JVS0 | 225 | 247 | 1 | 413 | Chain | ID=PRO_0000257972;Note=Intracellular hyaluronan-binding protein 4 |
| Q5JVS0 | 248 | 275 | 172 | 276 | Alternative sequence | ID=VSP_052194;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5JVS0 | 248 | 275 | 1 | 413 | Chain | ID=PRO_0000257972;Note=Intracellular hyaluronan-binding protein 4 |
| 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 |
| Q5JVS0 | 171 | 224 | 172 | 276 | Alternative sequence | ID=VSP_052194;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5JVS0 | 171 | 224 | 1 | 413 | Chain | ID=PRO_0000257972;Note=Intracellular hyaluronan-binding protein 4 |
| Q5JVS0 | 248 | 275 | 172 | 276 | Alternative sequence | ID=VSP_052194;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5JVS0 | 248 | 275 | 1 | 413 | Chain | ID=PRO_0000257972;Note=Intracellular hyaluronan-binding protein 4 |
| 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 |
| Q5JVS0 | 171 | 224 | 172 | 276 | Alternative sequence | ID=VSP_052194;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5JVS0 | 171 | 224 | 1 | 413 | Chain | ID=PRO_0000257972;Note=Intracellular hyaluronan-binding protein 4 |
| Q5JVS0 | 225 | 247 | 172 | 276 | Alternative sequence | ID=VSP_052194;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5JVS0 | 225 | 247 | 1 | 413 | Chain | ID=PRO_0000257972;Note=Intracellular hyaluronan-binding protein 4 |
| Q5JVS0 | 248 | 275 | 172 | 276 | Alternative sequence | ID=VSP_052194;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5JVS0 | 248 | 275 | 1 | 413 | Chain | ID=PRO_0000257972;Note=Intracellular hyaluronan-binding protein 4 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in HABP4 |
| 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 HABP4 |
| - 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 HABP4 |
| 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 HABP4 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for HABP4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for HABP4 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q5JVS0 | approved|vet_approved | DB08818 | Hyaluronic acid | small molecule | Q5JVS0 |
Top |
RelatedDiseases for HABP4 |
| 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)
|