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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 KMT2D |
 Gene summary |
| Gene information | Gene symbol | KMT2D | Gene ID | 8085 |
| Gene name | lysine methyltransferase 2D | |
| Synonyms | AAD10|ALR|CAGL114|KABUK1|KMS|MLL2|MLL4|TNRC21 | |
| Cytomap | 12q13.12 | |
| Type of gene | protein-coding | |
| Description | histone-lysine N-methyltransferase 2DALL1-related proteinKabuki make-up syndromeKabuki mental retardation syndromehistone-lysine N-methyltransferase MLL2lysine (K)-specific methyltransferase 2Dlysine N-methyltransferase 2Dmyeloid/lymphoid or mixed- | |
| Modification date | 20200316 | |
| 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 |
| KMT2D | GO:0043627 | response to estrogen | 16603732 |
| KMT2D | GO:0044648 | histone H3-K4 dimethylation | 26320581 |
| KMT2D | GO:0080182 | histone H3-K4 trimethylation | 26320581 |
| KMT2D | GO:0097692 | histone H3-K4 monomethylation | 26320581 |
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Gene structures and expression levels for KMT2D |
| 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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ENSG00000167548
| 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 |
| 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 KMT2D |
| 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_114989 | chr12 | 49054528:49054751:49054900:49055026:49055276:49055324 | 49054900:49055026 |
| exon_skip_116956 | chr12 | 49053207:49053321:49053476:49053641:49053978:49054140 | 49053476:49053641 |
| exon_skip_139383 | chr12 | 49043078:49043186:49043363:49043428:49043635:49043782 | 49043363:49043428 |
| exon_skip_146938 | chr12 | 49043868:49043998:49044200:49044304:49044403:49044522 | 49044200:49044304 |
| exon_skip_153685 | chr12 | 49024810:49024946:49026182:49027322:49027803:49027930 | 49026182:49027322 |
| exon_skip_156544 | chr12 | 49030601:49030768:49030893:49031033:49031175:49031404 | 49030893:49031033 |
| exon_skip_19089 | chr12 | 49022590:49022875:49024578:49024708:49024810:49024946 | 49024578:49024708 |
| exon_skip_20210 | chr12 | 49022654:49022875:49024053:49024100:49024578:49024624 | 49024053:49024100 |
| exon_skip_216165 | chr12 | 49053978:49054140:49054307:49054416:49054528:49054751 | 49054307:49054416 |
| exon_skip_216281 | chr12 | 49053978:49054140:49054307:49054416:49054528:49054539 | 49054307:49054416 |
| exon_skip_216942 | chr12 | 49041301:49041535:49041655:49041705:49041917:49041990 | 49041655:49041705 |
| exon_skip_218536 | chr12 | 49022836:49022875:49024053:49024100:49024578:49024624 | 49024053:49024100 |
| exon_skip_229828 | chr12 | 49030280:49030439:49030601:49030768:49030893:49031033 | 49030601:49030768 |
| exon_skip_238424 | chr12 | 49030280:49030439:49030601:49030768:49030893:49031026 | 49030601:49030768 |
| exon_skip_257101 | chr12 | 49030601:49030768:49030893:49031033:49031175:49031312 | 49030893:49031033 |
| exon_skip_269672 | chr12 | 49046260:49046424:49046609:49046790:49047965:49048069 | 49046609:49046790 |
| exon_skip_62836 | chr12 | 49022590:49022875:49024053:49024100:49024578:49024624 | 49024053:49024100 |
| exon_skip_8376 | chr12 | 49043868:49043998:49044191:49044304:49044403:49044522 | 49044191:49044304 |
| exon_skip_8402 | chr12 | 49050886:49052424:49052564:49052709:49052915:49053072 | 49052564:49052709 |
| exon_skip_98942 | chr12 | 49029401:49029476:49030280:49030439:49030601:49030768 | 49030280:49030439 |
| 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 |
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Open reading frame (ORF) annotation in the exon skipping event for KMT2D |
| 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 |
| ENST00000301067 | 49026182 | 49027322 | Frame-shift |
| ENST00000301067 | 49052564 | 49052709 | Frame-shift |
| ENST00000301067 | 49054307 | 49054416 | Frame-shift |
| ENST00000301067 | 49030601 | 49030768 | In-frame |
| ENST00000301067 | 49030893 | 49031033 | 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 |
| 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 |
| ENST00000301067 | 49024578 | 49024708 | Frame-shift |
| ENST00000301067 | 49026182 | 49027322 | Frame-shift |
| ENST00000301067 | 49030280 | 49030439 | Frame-shift |
| ENST00000301067 | 49046609 | 49046790 | Frame-shift |
| ENST00000301067 | 49052564 | 49052709 | Frame-shift |
| ENST00000301067 | 49053476 | 49053641 | Frame-shift |
| ENST00000301067 | 49054307 | 49054416 | Frame-shift |
| ENST00000301067 | 49030601 | 49030768 | In-frame |
| ENST00000301067 | 49030893 | 49031033 | In-frame |
| ENST00000301067 | 49041655 | 49041705 | In-frame |
| ENST00000301067 | 49043363 | 49043428 | In-frame |
| ENST00000301067 | 49044200 | 49044304 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KMT2D |
p-ENSG00000167548_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 |
| ENST00000301067 | 19436 | 5537 | 49030893 | 49031033 | 13531 | 13670 | 4510 | 4556 |
| ENST00000301067 | 19436 | 5537 | 49030601 | 49030768 | 13672 | 13838 | 4557 | 4612 |
| 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 |
| ENST00000301067 | 19436 | 5537 | 49044200 | 49044304 | 5084 | 5187 | 1694 | 1729 |
| ENST00000301067 | 19436 | 5537 | 49043363 | 49043428 | 5468 | 5532 | 1822 | 1844 |
| ENST00000301067 | 19436 | 5537 | 49041655 | 49041705 | 6184 | 6233 | 2061 | 2077 |
| ENST00000301067 | 19436 | 5537 | 49030893 | 49031033 | 13531 | 13670 | 4510 | 4556 |
| ENST00000301067 | 19436 | 5537 | 49030601 | 49030768 | 13672 | 13838 | 4557 | 4612 |
| 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 |
| O14686 | 4510 | 4556 | 1 | 5537 | Chain | ID=PRO_0000124878;Note=Histone-lysine N-methyltransferase 2D |
| O14686 | 4557 | 4612 | 1 | 5537 | Chain | ID=PRO_0000124878;Note=Histone-lysine N-methyltransferase 2D |
| 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 |
| O14686 | 1694 | 1729 | 1729 | 1729 | Alternative sequence | ID=VSP_008560;Note=In isoform 3. E->EGET;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9247308;Dbxref=PMID:9247308 |
| O14686 | 1694 | 1729 | 1 | 5537 | Chain | ID=PRO_0000124878;Note=Histone-lysine N-methyltransferase 2D |
| O14686 | 1694 | 1729 | 1718 | 1718 | Natural variant | ID=VAR_074237;Note=In KABUK1%3B unknown pathological significance. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21607748;Dbxref=dbSNP:rs111266743,PMID:21607748 |
| O14686 | 1822 | 1844 | 1 | 5537 | Chain | ID=PRO_0000124878;Note=Histone-lysine N-methyltransferase 2D |
| O14686 | 1822 | 1844 | 1834 | 1834 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O14686 | 1822 | 1844 | 1843 | 1843 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O14686 | 2061 | 2077 | 1 | 5537 | Chain | ID=PRO_0000124878;Note=Histone-lysine N-methyltransferase 2D |
| O14686 | 4510 | 4556 | 1 | 5537 | Chain | ID=PRO_0000124878;Note=Histone-lysine N-methyltransferase 2D |
| O14686 | 4557 | 4612 | 1 | 5537 | Chain | ID=PRO_0000124878;Note=Histone-lysine N-methyltransferase 2D |
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3'-UTR located exon skipping events that lost miRNA binding sites in KMT2D |
| 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 KMT2D |
| - 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 KMT2D |
| 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 KMT2D |
| 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 KMT2D |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for KMT2D |
| 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 KMT2D |
| 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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