|
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 KALRN |
Gene summary |
Gene information | Gene symbol | KALRN | Gene ID | 8997 |
Gene name | kalirin RhoGEF kinase | |
Synonyms | ARHGEF24|CHD5|CHDS5|DUET|DUO|HAPIP|TRAD | |
Cytomap | 3q21.1-q21.2 | |
Type of gene | protein-coding | |
Description | kalirinhuntingtin-associated protein interacting protein (duo)serine/threonine-protein kinase with Dbl- and pleckstrin homology domain | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 30021459(Synaptic Proteome Compensation and Resilience to Psychosis in Alzheimer's Disease) |
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 KALRN |
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 | DOWN | ENST00000439170.2 | KALRN-207:protein_coding:KALRN | 5.052982e+01 | -8.265414e-01 | 2.797578e-07 | 3.345592e-05 |
TC | DOWN | ENST00000471431.1 | KALRN-213:retained_intron:KALRN | 4.723719e+00 | -8.533651e-01 | 5.147353e-04 | 5.884718e-03 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KALRN |
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_116807 | chr3 | 124659365:124659457:124660923:124660973:124661851:124661928 | 124660923:124660973 |
exon_skip_171693 | chr3 | 124446161:124446276:124446763:124446885:124455177:124455359 | 124446763:124446885 |
exon_skip_175760 | chr3 | 124434334:124434525:124438888:124439037:124441945:124442059 | 124438888:124439037 |
exon_skip_185360 | chr3 | 124446763:124446885:124455177:124455359:124456610:124456728 | 124455177:124455359 |
exon_skip_20994 | chr3 | 124702038:124702116:124712935:124713135:124717247:124717385 | 124712935:124713135 |
exon_skip_218924 | chr3 | 124268743:124269255:124298791:124298913:124325980:124326085 | 124298791:124298913 |
exon_skip_229178 | chr3 | 124492740:124492882:124496311:124496413:124562843:124563089 | 124496311:124496413 |
exon_skip_243708 | chr3 | 124482808:124482900:124488204:124488315:124490694:124490884 | 124488204:124488315 |
exon_skip_250105 | chr3 | 124234829:124234943:124264498:124264690:124268743:124269013 | 124264498:124264690 |
exon_skip_253249 | chr3 | 124446763:124446885:124455177:124455359:124456610:124456725 | 124455177:124455359 |
exon_skip_270538 | chr3 | 124637208:124637303:124650808:124650938:124655601:124655667 | 124650808:124650938 |
exon_skip_28328 | chr3 | 124678190:124678313:124679458:124679517:124693804:124693831 | 124679458:124679517 |
exon_skip_296222 | chr3 | 124477249:124477334:124482808:124482900:124488204:124488315 | 124482808:124482900 |
exon_skip_30949 | chr3 | 124632420:124632703:124633849:124633953:124650808:124650915 | 124633849:124633953 |
exon_skip_31964 | chr3 | 124492740:124492882:124496311:124496413:124518400:124519849 | 124496311:124496413 |
exon_skip_51716 | chr3 | 124633852:124633953:124637208:124637303:124650808:124650915 | 124637208:124637303 |
exon_skip_92905 | chr3 | 124329861:124329992:124334265:124334495:124347143:124347265 | 124334265:124334495 |
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 KALRN |
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 |
Top |
Infer the effects of exon skipping event on protein functional features for KALRN |
p-ENSG00000160145_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 KALRN |
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 KALRN |
- 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 KALRN |
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 KALRN |
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 KALRN |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
DLPFC | SRSF11 | exon_skip_51716 | -5.015525e-01 | 8.036568e-17 |
DLPFC | PABPC4 | exon_skip_51716 | -4.133426e-01 | 2.101826e-11 |
FL | SRSF2 | exon_skip_51716 | 4.189661e-01 | 1.619017e-09 |
FL | HNRNPK | exon_skip_51716 | 4.033291e-01 | 7.244123e-09 |
FL | RALYL | exon_skip_51716 | 5.317350e-01 | 2.472681e-15 |
HCC | SFPQ | exon_skip_51716 | -5.104473e-01 | 1.886526e-19 |
HCC | ZNF638 | exon_skip_51716 | -4.661841e-01 | 4.415988e-16 |
HCC | SRSF11 | exon_skip_51716 | -5.084643e-01 | 2.737120e-19 |
HCC | IGF2BP2 | exon_skip_51716 | -4.716715e-01 | 1.791920e-16 |
HCC | PCBP1 | exon_skip_51716 | -4.205310e-01 | 4.414082e-13 |
HCC | PABPC4 | exon_skip_51716 | -4.044254e-01 | 3.980230e-12 |
HCC | SRSF5 | exon_skip_51716 | -4.824421e-01 | 2.909054e-17 |
IFG | MBNL1 | exon_skip_51716 | 4.474446e-01 | 1.927314e-02 |
IFG | IGF2BP2 | exon_skip_51716 | -4.442565e-01 | 2.025770e-02 |
IFG | PCBP1 | exon_skip_51716 | 4.091076e-01 | 3.409635e-02 |
IFG | RALYL | exon_skip_51716 | 6.938455e-01 | 5.978402e-05 |
IFG | RBM23 | exon_skip_51716 | 4.780914e-01 | 1.165803e-02 |
PG | SRSF2 | exon_skip_51716 | 4.332124e-01 | 1.054174e-08 |
PG | SRSF11 | exon_skip_51716 | 4.500668e-01 | 2.358737e-09 |
PG | MBNL1 | exon_skip_51716 | 4.584789e-01 | 1.083093e-09 |
PG | PCBP1 | exon_skip_51716 | 4.117194e-01 | 6.341663e-08 |
PG | HNRNPK | exon_skip_51716 | 4.855570e-01 | 7.624107e-11 |
PG | NUP42 | exon_skip_51716 | 4.270354e-01 | 1.788441e-08 |
PG | RALYL | exon_skip_51716 | 6.196346e-01 | 2.428638e-18 |
PG | RBM23 | exon_skip_51716 | 4.148539e-01 | 4.919486e-08 |
STG | IGF2BP2 | exon_skip_51716 | -4.334803e-01 | 5.905096e-05 |
TC | SRSF2 | exon_skip_51716 | 5.154653e-01 | 2.030617e-11 |
TC | SFPQ | exon_skip_51716 | 4.716992e-01 | 1.434698e-09 |
TC | SRSF11 | exon_skip_51716 | 4.627406e-01 | 3.192651e-09 |
TC | MBNL1 | exon_skip_51716 | 4.090347e-01 | 2.449136e-07 |
TC | HNRNPK | exon_skip_51716 | 4.058359e-01 | 3.099351e-07 |
TC | NUP42 | exon_skip_51716 | 6.238124e-01 | 2.472408e-17 |
TC | RALYL | exon_skip_51716 | 6.374233e-01 | 3.022361e-18 |
TC | EWSR1 | exon_skip_51716 | 4.618644e-01 | 3.448206e-09 |
TC | SRSF5 | exon_skip_51716 | 4.856863e-01 | 3.926048e-10 |
Top |
RelatedDrugs for KALRN |
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 KALRN |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |