|
||||||
|
 | |
| |
| |
| 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 KANSL2 |
 Gene summary |
| Gene information | Gene symbol | KANSL2 | Gene ID | 54934 |
| Gene name | KAT8 regulatory NSL complex subunit 2 | |
| Synonyms | C12orf41|NSL2 | |
| Cytomap | 12q13.11 | |
| Type of gene | protein-coding | |
| Description | KAT8 regulatory NSL complex subunit 2NSL complex protein NSL2non-specific lethal 2 homolog | |
| 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 |
| KANSL2 | GO:0043981 | histone H4-K5 acetylation | 20018852 |
| KANSL2 | GO:0043982 | histone H4-K8 acetylation | 20018852 |
| KANSL2 | GO:0043984 | histone H4-K16 acetylation | 20018852 |
Top |
Gene structures and expression levels for KANSL2 |
| 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. |
 |
ENSG00000139620
| 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 | ENST00000549463.5 | KANSL2-210:lncRNA:KANSL2 | 3.747979e+00 | 1.852485e+00 | 3.285848e-03 | 3.397633e-02 |
| CB | UP | ENST00000547582.5 | KANSL2-205:nonsense_mediated_decay:KANSL2 | 3.387785e+00 | 2.233320e+00 | 1.563918e-10 | 9.179987e-09 |
| CB | DOWN | ENST00000548147.5 | KANSL2-206:nonsense_mediated_decay:KANSL2 | 1.042675e+02 | -2.400941e+00 | 2.926630e-08 | 7.511649e-07 |
| CB | UP | ENST00000550870.1 | KANSL2-213:protein_coding:KANSL2 | 8.306361e+00 | 1.165461e+00 | 2.223757e-03 | 1.005851e-02 |
| TC | DOWN | ENST00000548147.5 | KANSL2-206:nonsense_mediated_decay:KANSL2 | 4.097414e+01 | -1.311814e+00 | 4.164664e-05 | 8.034707e-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 KANSL2 |
| 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_160327 | chr12 | 48660468:48660619:48661195:48661243:48662560:48662592 | 48661195:48661243 |
| exon_skip_192695 | chr12 | 48679761:48679833:48681382:48681641:48682187:48682211 | 48681382:48681641 |
| exon_skip_211475 | chr12 | 48671919:48671962:48679036:48679238:48679655:48679833 | 48679036:48679238 |
| exon_skip_238374 | chr12 | 48681424:48681641:48681972:48682065:48682187:48682211 | 48681972:48682065 |
| exon_skip_242103 | chr12 | 48681571:48681641:48681858:48682065:48682187:48682211 | 48681858:48682065 |
| exon_skip_265962 | chr12 | 48654941:48655060:48660468:48660619:48662560:48662654 | 48660468:48660619 |
| exon_skip_272160 | chr12 | 48660468:48660619:48662560:48662654:48667693:48667789 | 48662560:48662654 |
| exon_skip_274677 | chr12 | 48671919:48671962:48679036:48679238:48679655:48679693 | 48679036:48679238 |
| exon_skip_275467 | chr12 | 48671919:48671962:48679036:48679150:48679655:48679693 | 48679036:48679150 |
| exon_skip_285343 | chr12 | 48681571:48681641:48681858:48682065:48682187:48682238 | 48681858:48682065 |
| exon_skip_42026 | chr12 | 48679761:48679833:48681571:48681641:48682187:48682211 | 48681571:48681641 |
| exon_skip_66950 | chr12 | 48681424:48681641:48681972:48682065:48682187:48682217 | 48681972:48682065 |
| exon_skip_99843 | chr12 | 48681571:48681641:48681972:48682065:48682187:48682217 | 48681972:48682065 |
| 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 KANSL2 |
| 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 |
| ENST00000420613 | 48681382 | 48681641 | 3UTR-3CDS |
| ENST00000420613 | 48679036 | 48679150 | 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 |
| ENST00000420613 | 48679036 | 48679150 | 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 |
| ENST00000420613 | 48679036 | 48679150 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for KANSL2 |
p-ENSG00000139620_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 KANSL2 |
| 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 KANSL2 |
| - 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 KANSL2 |
| 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 KANSL2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_242103 | rs10783282 | chr12:48753164 | 1.487276e-09 | 1.182726e-06 |
| CB | exon_skip_242103 | rs10783270 | chr12:48612378 | 4.099406e-09 | 2.887209e-06 |
| CB | exon_skip_242103 | rs6580685 | chr12:48617026 | 4.099406e-09 | 2.887209e-06 |
| CB | exon_skip_242103 | rs3741628 | chr12:48654955 | 1.307858e-06 | 4.515815e-04 |
| CB | exon_skip_242103 | rs10875861 | chr12:48704157 | 3.451510e-06 | 1.038420e-03 |
| CB | exon_skip_160327 | rs3741628 | chr12:48654955 | 2.217615e-04 | 3.240971e-02 |
Top |
Correlation with RNA binding proteins (RBPs) for KANSL2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_275467 | 4.429432e-01 | 8.797896e-09 |
| IFG | TARDBP | exon_skip_275467 | 4.292634e-01 | 2.864186e-02 |
| IFG | KHDRBS2 | exon_skip_275467 | 4.375583e-01 | 2.538734e-02 |
| IFG | SRSF9 | exon_skip_275467 | 4.762581e-01 | 1.391108e-02 |
Top |
RelatedDrugs for KANSL2 |
| 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 KANSL2 |
| 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)
|