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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for KMT2E |
 Gene summary |
| Gene information | Gene symbol | KMT2E | Gene ID | 55904 |
| Gene name | lysine methyltransferase 2E | |
| Synonyms | HDCMC04P|MLL5|NKp44L | |
| Cytomap | 7q22.3 | |
| Type of gene | protein-coding | |
| Description | inactive histone-lysine N-methyltransferase 2Ehistone-lysine N-methyltransferase 2Ehistone-lysine N-methyltransferase MLL5inactive lysine N-methyltransferase 2Elysine (K)-specific methyltransferase 2Emyeloid/lymphoid or mixed-lineage leukemia 5 (trit | |
| Modification date | 20180519 | |
| UniProtAcc | Q8IZD2 | |
| Context | PubMed: KMT2E [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for KMT2E from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for KMT2E |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for KMT2E |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_470256 | 7 | 104654907:104654982:104678572:104678646:104681285:104681303 | 104678572:104678646 | ENSG00000005483.15 | ENST00000334914.7,ENST00000334884.5,ENST00000476671.1,ENST00000334877.4 |
| exon_skip_470257 | 7 | 104654907:104654982:104681285:104681470:104702610:104702725 | 104681285:104681470 | ENSG00000005483.15 | ENST00000495267.1 |
| exon_skip_470259 | 7 | 104678572:104678646:104678831:104678972:104681285:104681303 | 104678831:104678972 | ENSG00000005483.15 | ENST00000474203.1 |
| exon_skip_470261 | 7 | 104678831:104678972:104679599:104679716:104681285:104681303 | 104679599:104679716 | ENSG00000005483.15 | ENST00000480368.1 |
| exon_skip_470262 | 7 | 104681321:104681470:104702610:104702725:104703797:104703824 | 104702610:104702725 | ENSG00000005483.15 | ENST00000334914.7,ENST00000474203.1,ENST00000495267.1,ENST00000257745.4,ENST00000334884.5,ENST00000482560.2,ENST00000476671.1,ENST00000334877.4,ENST00000311117.3 |
| exon_skip_470267 | 7 | 104703797:104704027:104704474:104704563:104707173:104707254 | 104704474:104704563 | ENSG00000005483.15 | ENST00000482560.2 |
| exon_skip_470268 | 7 | 104703797:104704027:104707173:104707254:104714065:104714124 | 104707173:104707254 | ENSG00000005483.15 | ENST00000334914.7,ENST00000495267.1,ENST00000257745.4,ENST00000334884.5,ENST00000476671.1,ENST00000334877.4,ENST00000311117.3 |
| exon_skip_470271 | 7 | 104717749:104717880:104719292:104719410:104722134:104722244 | 104719292:104719410 | ENSG00000005483.15 | ENST00000334914.7,ENST00000257745.4,ENST00000334884.5,ENST00000482560.2,ENST00000476671.1,ENST00000334877.4,ENST00000311117.3,ENST00000478990.1 |
| exon_skip_470272 | 7 | 104719292:104719410:104722134:104722244:104730455:104730579 | 104722134:104722244 | ENSG00000005483.15 | ENST00000334914.7,ENST00000257745.4,ENST00000334884.5,ENST00000482560.2,ENST00000476671.1,ENST00000334877.4,ENST00000311117.3,ENST00000478990.1 |
| exon_skip_470274 | 7 | 104731662:104731761:104741871:104742036:104742332:104742641 | 104741871:104742036 | ENSG00000005483.15 | ENST00000334914.7,ENST00000257745.4,ENST00000334884.5,ENST00000334877.4,ENST00000311117.3 |
| exon_skip_470276 | 7 | 104742332:104742641:104745885:104746140:104746305:104746402 | 104745885:104746140 | ENSG00000005483.15 | ENST00000334914.7,ENST00000257745.4,ENST00000334884.5,ENST00000334877.4,ENST00000311117.3 |
| exon_skip_470280 | 7 | 104746305:104746450:104746968:104747219:104747612:104747669 | 104746968:104747219 | ENSG00000005483.15 | ENST00000334914.7,ENST00000257745.4,ENST00000334877.4,ENST00000311117.3 |
| exon_skip_470281 | 7 | 104748346:104748372:104748990:104749105:104749388:104749675 | 104748990:104749105 | ENSG00000005483.15 | ENST00000478079.1 |
| exon_skip_470285 | 7 | 104750743:104750815:104750923:104751049:104751217:104751314 | 104750923:104751049 | ENSG00000005483.15 | ENST00000334914.7,ENST00000257745.4,ENST00000334884.5,ENST00000311117.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KMT2E |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_470256 | 7 | 104654907:104654982:104678572:104678646:104681285:104681303 | 104678572:104678646 | ENSG00000005483.15 | ENST00000334884.5,ENST00000334877.4,ENST00000334914.7,ENST00000476671.1 |
| exon_skip_470257 | 7 | 104654907:104654982:104681285:104681470:104702610:104702725 | 104681285:104681470 | ENSG00000005483.15 | ENST00000495267.1 |
| exon_skip_470258 | 7 | 104678572:104678646:104678831:104678972:104679599:104679716 | 104678831:104678972 | ENSG00000005483.15 | ENST00000480368.1 |
| exon_skip_470259 | 7 | 104678572:104678646:104678831:104678972:104681285:104681303 | 104678831:104678972 | ENSG00000005483.15 | ENST00000474203.1 |
| exon_skip_470261 | 7 | 104678831:104678972:104679599:104679716:104681285:104681303 | 104679599:104679716 | ENSG00000005483.15 | ENST00000480368.1 |
| exon_skip_470262 | 7 | 104681321:104681470:104702610:104702725:104703797:104703824 | 104702610:104702725 | ENSG00000005483.15 | ENST00000311117.3,ENST00000334884.5,ENST00000334877.4,ENST00000257745.4,ENST00000334914.7,ENST00000495267.1,ENST00000476671.1,ENST00000474203.1,ENST00000482560.2 |
| exon_skip_470267 | 7 | 104703797:104704027:104704474:104704563:104707173:104707254 | 104704474:104704563 | ENSG00000005483.15 | ENST00000482560.2 |
| exon_skip_470268 | 7 | 104703797:104704027:104707173:104707254:104714065:104714124 | 104707173:104707254 | ENSG00000005483.15 | ENST00000311117.3,ENST00000334884.5,ENST00000334877.4,ENST00000257745.4,ENST00000334914.7,ENST00000495267.1,ENST00000476671.1 |
| exon_skip_470271 | 7 | 104717749:104717880:104719292:104719410:104722134:104722244 | 104719292:104719410 | ENSG00000005483.15 | ENST00000311117.3,ENST00000334884.5,ENST00000334877.4,ENST00000257745.4,ENST00000334914.7,ENST00000478990.1,ENST00000476671.1,ENST00000482560.2 |
| exon_skip_470272 | 7 | 104719292:104719410:104722134:104722244:104730455:104730579 | 104722134:104722244 | ENSG00000005483.15 | ENST00000311117.3,ENST00000334884.5,ENST00000334877.4,ENST00000257745.4,ENST00000334914.7,ENST00000478990.1,ENST00000476671.1,ENST00000482560.2 |
| exon_skip_470274 | 7 | 104731662:104731761:104741871:104742036:104742332:104742641 | 104741871:104742036 | ENSG00000005483.15 | ENST00000311117.3,ENST00000334884.5,ENST00000334877.4,ENST00000257745.4,ENST00000334914.7 |
| exon_skip_470276 | 7 | 104742332:104742641:104745885:104746140:104746305:104746402 | 104745885:104746140 | ENSG00000005483.15 | ENST00000311117.3,ENST00000334884.5,ENST00000334877.4,ENST00000257745.4,ENST00000334914.7 |
| exon_skip_470280 | 7 | 104746305:104746450:104746968:104747219:104747612:104747669 | 104746968:104747219 | ENSG00000005483.15 | ENST00000311117.3,ENST00000334877.4,ENST00000257745.4,ENST00000334914.7 |
| exon_skip_470281 | 7 | 104748346:104748372:104748990:104749105:104749388:104749675 | 104748990:104749105 | ENSG00000005483.15 | ENST00000478079.1 |
| exon_skip_470285 | 7 | 104750743:104750815:104750923:104751049:104751217:104751314 | 104750923:104751049 | ENSG00000005483.15 | ENST00000311117.3,ENST00000334884.5,ENST00000257745.4,ENST00000334914.7 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for KMT2E |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000257745 | 104702610 | 104702725 | Frame-shift |
| ENST00000311117 | 104702610 | 104702725 | Frame-shift |
| ENST00000257745 | 104719292 | 104719410 | Frame-shift |
| ENST00000311117 | 104719292 | 104719410 | Frame-shift |
| ENST00000257745 | 104722134 | 104722244 | Frame-shift |
| ENST00000311117 | 104722134 | 104722244 | Frame-shift |
| ENST00000257745 | 104746968 | 104747219 | Frame-shift |
| ENST00000311117 | 104746968 | 104747219 | Frame-shift |
| ENST00000257745 | 104707173 | 104707254 | In-frame |
| ENST00000311117 | 104707173 | 104707254 | In-frame |
| ENST00000257745 | 104741871 | 104742036 | In-frame |
| ENST00000311117 | 104741871 | 104742036 | In-frame |
| ENST00000257745 | 104745885 | 104746140 | In-frame |
| ENST00000311117 | 104745885 | 104746140 | In-frame |
| ENST00000257745 | 104750923 | 104751049 | In-frame |
| ENST00000311117 | 104750923 | 104751049 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000257745 | 104702610 | 104702725 | Frame-shift |
| ENST00000311117 | 104702610 | 104702725 | Frame-shift |
| ENST00000257745 | 104719292 | 104719410 | Frame-shift |
| ENST00000311117 | 104719292 | 104719410 | Frame-shift |
| ENST00000257745 | 104722134 | 104722244 | Frame-shift |
| ENST00000311117 | 104722134 | 104722244 | Frame-shift |
| ENST00000257745 | 104746968 | 104747219 | Frame-shift |
| ENST00000311117 | 104746968 | 104747219 | Frame-shift |
| ENST00000257745 | 104707173 | 104707254 | In-frame |
| ENST00000311117 | 104707173 | 104707254 | In-frame |
| ENST00000257745 | 104741871 | 104742036 | In-frame |
| ENST00000311117 | 104741871 | 104742036 | In-frame |
| ENST00000257745 | 104745885 | 104746140 | In-frame |
| ENST00000311117 | 104745885 | 104746140 | In-frame |
| ENST00000257745 | 104750923 | 104751049 | In-frame |
| ENST00000311117 | 104750923 | 104751049 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KMT2E |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000257745 | 6731 | 1858 | 104707173 | 104707254 | 803 | 883 | 139 | 165 |
| ENST00000311117 | 6891 | 1858 | 104707173 | 104707254 | 962 | 1042 | 139 | 165 |
| ENST00000257745 | 6731 | 1858 | 104741871 | 104742036 | 2109 | 2273 | 574 | 629 |
| ENST00000311117 | 6891 | 1858 | 104741871 | 104742036 | 2268 | 2432 | 574 | 629 |
| ENST00000257745 | 6731 | 1858 | 104745885 | 104746140 | 2583 | 2837 | 732 | 817 |
| ENST00000311117 | 6891 | 1858 | 104745885 | 104746140 | 2742 | 2996 | 732 | 817 |
| ENST00000257745 | 6731 | 1858 | 104750923 | 104751049 | 4231 | 4356 | 1281 | 1323 |
| ENST00000311117 | 6891 | 1858 | 104750923 | 104751049 | 4390 | 4515 | 1281 | 1323 |
| Loci of skipped exons in GTEx 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 |
| ENST00000257745 | 6731 | 1858 | 104707173 | 104707254 | 803 | 883 | 139 | 165 |
| ENST00000311117 | 6891 | 1858 | 104707173 | 104707254 | 962 | 1042 | 139 | 165 |
| ENST00000257745 | 6731 | 1858 | 104741871 | 104742036 | 2109 | 2273 | 574 | 629 |
| ENST00000311117 | 6891 | 1858 | 104741871 | 104742036 | 2268 | 2432 | 574 | 629 |
| ENST00000257745 | 6731 | 1858 | 104745885 | 104746140 | 2583 | 2837 | 732 | 817 |
| ENST00000311117 | 6891 | 1858 | 104745885 | 104746140 | 2742 | 2996 | 732 | 817 |
| ENST00000257745 | 6731 | 1858 | 104750923 | 104751049 | 4231 | 4356 | 1281 | 1323 |
| ENST00000311117 | 6891 | 1858 | 104750923 | 104751049 | 4390 | 4515 | 1281 | 1323 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 GTEx. |
| 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 |
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SNVs in the skipped exons for KMT2E |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_470262 | 104702611 | 104702725 | 104702632 | 104702632 | Frame_Shift_Del | C | - | p.S31fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_470262 | 104702611 | 104702725 | 104702713 | 104702713 | Frame_Shift_Del | T | - | p.G58fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_470276 | 104745886 | 104746140 | 104745930 | 104745930 | Frame_Shift_Del | A | - | p.G747fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_470276 | 104745886 | 104746140 | 104745930 | 104745930 | Frame_Shift_Del | A | - | p.G747fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_470280 | 104746969 | 104747219 | 104746985 | 104746985 | Frame_Shift_Del | A | - | p.L871fs |
| ESCA | TCGA-L5-A8NG-01 | exon_skip_470285 | 104750924 | 104751049 | 104750965 | 104750965 | Frame_Shift_Del | C | - | p.Q1296fs |
| PAAD | TCGA-F2-A7TX-01 | exon_skip_470276 | 104745886 | 104746140 | 104746087 | 104746088 | Frame_Shift_Ins | - | A | p.K800fs |
| SKCM | TCGA-EB-A85J-01 | exon_skip_470262 | 104702611 | 104702725 | 104702645 | 104702645 | Nonsense_Mutation | G | T | p.E36* |
| SKCM | TCGA-EE-A2MD-06 | exon_skip_470272 | 104722135 | 104722244 | 104722179 | 104722179 | Nonsense_Mutation | T | A | p.Y431* |
| BLCA | TCGA-XF-AAN2-01 | exon_skip_470285 | 104750924 | 104751049 | 104750987 | 104750987 | Nonsense_Mutation | C | G | p.S1303* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| DV90_LUNG | 104746969 | 104747219 | 104746985 | 104746985 | Frame_Shift_Del | A | - | p.L871fs |
| DU145_PROSTATE | 104746969 | 104747219 | 104746985 | 104746985 | Frame_Shift_Del | A | - | p.L871fs |
| HCC1569_BREAST | 104746969 | 104747219 | 104746985 | 104746985 | Frame_Shift_Del | A | - | p.L871fs |
| LOVO_LARGE_INTESTINE | 104746969 | 104747219 | 104746985 | 104746985 | Frame_Shift_Del | A | - | p.L871fs |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 104681286 | 104681470 | 104681410 | 104681410 | Missense_Mutation | T | C | p.V4A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 104681286 | 104681470 | 104681410 | 104681410 | Missense_Mutation | T | C | p.V4A |
| SW948_LARGE_INTESTINE | 104681286 | 104681470 | 104681428 | 104681428 | Missense_Mutation | A | G | p.D10G |
| SKLU1_LUNG | 104681286 | 104681470 | 104681436 | 104681436 | Missense_Mutation | G | C | p.E13Q |
| GMEL_SKIN | 104707174 | 104707254 | 104707209 | 104707209 | Missense_Mutation | G | T | p.R151M |
| LN215_CENTRAL_NERVOUS_SYSTEM | 104719293 | 104719410 | 104719367 | 104719367 | Missense_Mutation | A | G | p.N402S |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 104722135 | 104722244 | 104722165 | 104722165 | Missense_Mutation | C | T | p.H427Y |
| HT115_LARGE_INTESTINE | 104741872 | 104742036 | 104741876 | 104741876 | Missense_Mutation | G | T | p.R576I |
| HCT15_LARGE_INTESTINE | 104745886 | 104746140 | 104745897 | 104745897 | Missense_Mutation | T | A | p.N736K |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 104745886 | 104746140 | 104745942 | 104745943 | Missense_Mutation | TG | CA | p.G752S |
| TGBC11TKB_STOMACH | 104745886 | 104746140 | 104745964 | 104745964 | Missense_Mutation | C | T | p.R759C |
| PANC1005_PANCREAS | 104745886 | 104746140 | 104745965 | 104745965 | Missense_Mutation | G | A | p.R759H |
| HEC251_ENDOMETRIUM | 104745886 | 104746140 | 104746004 | 104746004 | Missense_Mutation | A | C | p.N772T |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 104745886 | 104746140 | 104746024 | 104746024 | Missense_Mutation | T | C | p.Y779H |
| JHUEM7_ENDOMETRIUM | 104745886 | 104746140 | 104746064 | 104746064 | Missense_Mutation | G | T | p.R792I |
| DIFI_LARGE_INTESTINE | 104746969 | 104747219 | 104747085 | 104747085 | Missense_Mutation | C | T | p.P905S |
| CAL27_UPPER_AERODIGESTIVE_TRACT | 104750924 | 104751049 | 104750983 | 104750983 | Missense_Mutation | C | G | p.H1302D |
| SNU1040_LARGE_INTESTINE | 104750924 | 104751049 | 104751047 | 104751047 | Missense_Mutation | A | T | p.E1323V |
| HUH28_BILIARY_TRACT | 104702611 | 104702725 | 104702688 | 104702688 | Nonsense_Mutation | C | G | p.S50* |
| MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 104722135 | 104722244 | 104722243 | 104722243 | Splice_Site | T | C | p.C453R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KMT2E |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_470259 | 7 | 104678572:104678646:104678831:104678972:104681285:104681303 | 104678831:104678972 | ENST00000474203.1 | KIRC | rs7800233 | chr7:104678877 | G/T | 1.88e-03 |
| exon_skip_470259 | 7 | 104678572:104678646:104678831:104678972:104681285:104681303 | 104678831:104678972 | ENST00000474203.1 | KIRC | rs7800233 | chr7:104678877 | G/T | 1.88e-03 |
| exon_skip_470259 | 7 | 104678572:104678646:104678831:104678972:104681285:104681303 | 104678831:104678972 | ENST00000474203.1 | SARC | rs7800233 | chr7:104678877 | G/T | 1.18e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KMT2E |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KMT2E |
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RelatedDrugs for KMT2E |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for KMT2E |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| KMT2E | C0023418 | leukemia | 1 | CTD_human |
| KMT2E | C0023470 | Myeloid Leukemia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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