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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 KANSL1L |
 Gene summary |
| Gene information | Gene symbol | KANSL1L | Gene ID | 151050 |
| Gene name | KAT8 regulatory NSL complex subunit 1 like | |
| Synonyms | C2orf67|MSL1v2 | |
| Cytomap | 2q34 | |
| Type of gene | protein-coding | |
| Description | KAT8 regulatory NSL complex subunit 1-like proteinmale-specific lethal 1 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 |
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Gene structures and expression levels for KANSL1L |
| 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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ENSG00000144445
| 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 | UP | ENST00000418791.5 | KANSL1L-203:protein_coding:KANSL1L | 6.000028e+01 | 1.191068e+00 | 1.313249e-08 | 3.796634e-07 |
| TC | UP | ENST00000418791.5 | KANSL1L-203:protein_coding:KANSL1L | 4.816826e+01 | 1.192811e+00 | 1.402408e-05 | 3.379045e-04 |
| 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 KANSL1L |
| 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_126736 | chr2 | 210029803:210029918:210031421:210031546:210040420:210040527 | 210031421:210031546 |
| exon_skip_14160 | chr2 | 210129031:210129172:210153495:210154611:210171149:210171327 | 210153495:210154611 |
| exon_skip_142731 | chr2 | 210028845:210028969:210029803:210029918:210040420:210040527 | 210029803:210029918 |
| exon_skip_178765 | chr2 | 210075552:210075756:210098086:210098207:210104104:210104195 | 210098086:210098207 |
| exon_skip_211298 | chr2 | 210025104:210025216:210026380:210026402:210027296:210027350 | 210026380:210026402 |
| exon_skip_264012 | chr2 | 210098086:210098207:210104104:210104301:210129031:210129172 | 210104104:210104301 |
| exon_skip_277148 | chr2 | 210031421:210031546:210040420:210040527:210043939:210044104 | 210040420:210040527 |
| exon_skip_292383 | chr2 | 210043939:210044104:210075552:210075756:210098086:210098207 | 210075552:210075756 |
| exon_skip_29683 | chr2 | 210028845:210028969:210029803:210029918:210031421:210031546 | 210029803:210029918 |
| exon_skip_46678 | chr2 | 210025104:210025216:210027296:210027350:210028845:210028969 | 210027296:210027350 |
| 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_2462 | Mayo_CB | 7.332877e-01 | 9.263636e-01 | -1.930760e-01 | 7.324478e-08 |
| exon_skip_126736 | Mayo_CB | 5.354667e-01 | 6.937931e-01 | -1.583264e-01 | 7.307910e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for KANSL1L |
| 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 |
| ENST00000281772 | 210029803 | 210029918 | Frame-shift |
| ENST00000281772 | 210075552 | 210075756 | Frame-shift |
| ENST00000281772 | 210098086 | 210098207 | Frame-shift |
| ENST00000281772 | 210031421 | 210031546 | In-frame |
| ENST00000281772 | 210104104 | 210104301 | 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 |
| ENST00000281772 | 210075552 | 210075756 | Frame-shift |
| ENST00000281772 | 210098086 | 210098207 | Frame-shift |
| ENST00000281772 | 210031421 | 210031546 | 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 |
| ENST00000281772 | 210027296 | 210027350 | Frame-shift |
| ENST00000281772 | 210029803 | 210029918 | Frame-shift |
| ENST00000281772 | 210075552 | 210075756 | Frame-shift |
| ENST00000281772 | 210098086 | 210098207 | Frame-shift |
| ENST00000281772 | 210031421 | 210031546 | In-frame |
| ENST00000281772 | 210040420 | 210040527 | In-frame |
| ENST00000281772 | 210104104 | 210104301 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KANSL1L |
p-ENSG00000144445_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 |
| ENST00000281772 | 4771 | 987 | 210104104 | 210104301 | 1495 | 1691 | 410 | 475 |
| ENST00000281772 | 4771 | 987 | 210031421 | 210031546 | 2294 | 2418 | 676 | 718 |
| 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 |
| ENST00000281772 | 4771 | 987 | 210031421 | 210031546 | 2294 | 2418 | 676 | 718 |
| 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 |
| ENST00000281772 | 4771 | 987 | 210104104 | 210104301 | 1495 | 1691 | 410 | 475 |
| ENST00000281772 | 4771 | 987 | 210040420 | 210040527 | 2186 | 2292 | 640 | 676 |
| ENST00000281772 | 4771 | 987 | 210031421 | 210031546 | 2294 | 2418 | 676 | 718 |
| 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 |
| A0AUZ9 | 410 | 475 | 1 | 987 | Chain | ID=PRO_0000319582;Note=KAT8 regulatory NSL complex subunit 1-like protein |
| A0AUZ9 | 410 | 475 | 462 | 462 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5DTI6 |
| A0AUZ9 | 410 | 475 | 458 | 458 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| A0AUZ9 | 410 | 475 | 471 | 471 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| A0AUZ9 | 676 | 718 | 649 | 987 | Alternative sequence | ID=VSP_031498;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A0AUZ9 | 676 | 718 | 677 | 718 | Alternative sequence | ID=VSP_031499;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A0AUZ9 | 676 | 718 | 677 | 705 | Alternative sequence | ID=VSP_031500;Note=In isoform 3. VHSTLNQWRNGYSPICKPQIRSESSAQLL->GMSHLQFLYSICLFMSLYLLFLHSKKNKI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| A0AUZ9 | 676 | 718 | 706 | 987 | Alternative sequence | ID=VSP_031501;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| A0AUZ9 | 676 | 718 | 1 | 987 | Chain | ID=PRO_0000319582;Note=KAT8 regulatory NSL complex subunit 1-like protein |
| 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 |
| A0AUZ9 | 676 | 718 | 649 | 987 | Alternative sequence | ID=VSP_031498;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A0AUZ9 | 676 | 718 | 677 | 718 | Alternative sequence | ID=VSP_031499;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A0AUZ9 | 676 | 718 | 677 | 705 | Alternative sequence | ID=VSP_031500;Note=In isoform 3. VHSTLNQWRNGYSPICKPQIRSESSAQLL->GMSHLQFLYSICLFMSLYLLFLHSKKNKI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| A0AUZ9 | 676 | 718 | 706 | 987 | Alternative sequence | ID=VSP_031501;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| A0AUZ9 | 676 | 718 | 1 | 987 | Chain | ID=PRO_0000319582;Note=KAT8 regulatory NSL complex subunit 1-like protein |
| 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 |
| A0AUZ9 | 410 | 475 | 1 | 987 | Chain | ID=PRO_0000319582;Note=KAT8 regulatory NSL complex subunit 1-like protein |
| A0AUZ9 | 410 | 475 | 462 | 462 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5DTI6 |
| A0AUZ9 | 410 | 475 | 458 | 458 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| A0AUZ9 | 410 | 475 | 471 | 471 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| A0AUZ9 | 640 | 676 | 641 | 648 | Alternative sequence | ID=VSP_031497;Note=In isoform 4. DVPLHFHF->GKPPCNNF;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A0AUZ9 | 640 | 676 | 649 | 987 | Alternative sequence | ID=VSP_031498;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A0AUZ9 | 640 | 676 | 1 | 987 | Chain | ID=PRO_0000319582;Note=KAT8 regulatory NSL complex subunit 1-like protein |
| A0AUZ9 | 676 | 718 | 649 | 987 | Alternative sequence | ID=VSP_031498;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A0AUZ9 | 676 | 718 | 677 | 718 | Alternative sequence | ID=VSP_031499;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A0AUZ9 | 676 | 718 | 677 | 705 | Alternative sequence | ID=VSP_031500;Note=In isoform 3. VHSTLNQWRNGYSPICKPQIRSESSAQLL->GMSHLQFLYSICLFMSLYLLFLHSKKNKI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| A0AUZ9 | 676 | 718 | 706 | 987 | Alternative sequence | ID=VSP_031501;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| A0AUZ9 | 676 | 718 | 1 | 987 | Chain | ID=PRO_0000319582;Note=KAT8 regulatory NSL complex subunit 1-like protein |
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3'-UTR located exon skipping events that lost miRNA binding sites in KANSL1L |
| 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 KANSL1L |
| - 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 KANSL1L |
| 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 KANSL1L |
| 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 KANSL1L |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_29683 | -4.282398e-01 | 4.593698e-07 |
| CB | SNRPA | exon_skip_29683 | -4.216588e-01 | 7.163868e-07 |
| CB | DAZAP1 | exon_skip_2462 | -4.485209e-01 | 1.099330e-07 |
| CB | TARDBP | exon_skip_2462 | -5.814296e-01 | 6.187889e-13 |
| CB | PABPN1 | exon_skip_2462 | -4.654580e-01 | 3.095109e-08 |
| CB | ELAVL1 | exon_skip_2462 | -4.230847e-01 | 6.511469e-07 |
| CB | RBM6 | exon_skip_2462 | -5.515298e-01 | 1.510016e-11 |
| CB | SAMD4A | exon_skip_2462 | -5.234516e-01 | 2.303515e-10 |
| CB | U2AF2 | exon_skip_2462 | -6.005146e-01 | 6.752437e-14 |
| CB | CNOT4 | exon_skip_2462 | -6.283367e-01 | 2.027506e-15 |
| CB | TIA1 | exon_skip_2462 | 4.076678e-01 | 1.786834e-06 |
| CB | RBM3 | exon_skip_2462 | 4.477682e-01 | 1.161194e-07 |
| CB | MATR3 | exon_skip_2462 | -4.395733e-01 | 2.089761e-07 |
| CB | PCBP1 | exon_skip_2462 | -4.217165e-01 | 7.136304e-07 |
| CB | PCBP4 | exon_skip_2462 | 4.970197e-01 | 2.408605e-09 |
| CB | UNK | exon_skip_2462 | 4.204722e-01 | 7.753745e-07 |
| CB | TRA2A | exon_skip_2462 | -6.559454e-01 | 4.335736e-17 |
| CB | SNRPA | exon_skip_2462 | -4.780824e-01 | 1.149576e-08 |
| CB | FUBP1 | exon_skip_2462 | -5.659672e-01 | 3.360480e-12 |
| CB | RBM45 | exon_skip_2462 | 6.787531e-01 | 1.319216e-18 |
| CB | HNRNPC | exon_skip_2462 | -5.834117e-01 | 4.949105e-13 |
| CB | NUP42 | exon_skip_2462 | 5.709528e-01 | 1.966221e-12 |
| CB | PTBP1 | exon_skip_2462 | -5.322225e-01 | 1.010068e-10 |
| CB | SRSF1 | exon_skip_2462 | -4.405636e-01 | 1.948118e-07 |
| CB | HNRNPF | exon_skip_2462 | -4.413485e-01 | 1.842406e-07 |
| CB | TARDBP | exon_skip_126736 | -5.192758e-01 | 1.513645e-10 |
| CB | PABPN1 | exon_skip_126736 | -4.595547e-01 | 2.632459e-08 |
| CB | CNOT4 | exon_skip_126736 | -5.324704e-01 | 4.206912e-11 |
| CB | RBM3 | exon_skip_126736 | 4.954320e-01 | 1.337902e-09 |
| CB | PCBP4 | exon_skip_126736 | 5.451579e-01 | 1.164494e-11 |
| CB | TRA2A | exon_skip_126736 | -5.070605e-01 | 4.720401e-10 |
| CB | FUBP1 | exon_skip_126736 | -4.955800e-01 | 1.320604e-09 |
| CB | NUP42 | exon_skip_126736 | 5.256099e-01 | 8.242725e-11 |
| CB | PTBP1 | exon_skip_126736 | -4.822664e-01 | 4.155650e-09 |
| CB | HNRNPF | exon_skip_126736 | -4.370186e-01 | 1.446229e-07 |
| TC | RBM3 | exon_skip_126736 | 6.726571e-01 | 1.347982e-16 |
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RelatedDrugs for KANSL1L |
| 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 KANSL1L |
| 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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