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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for KMT2D

check button Gene summary
Gene informationGene symbol

KMT2D

Gene ID

8085

Gene namelysine methyltransferase 2D
SynonymsAAD10|ALR|CAGL114|KABUK1|KMS|MLL2|MLL4|TNRC21
Cytomap

12q13.12

Type of geneprotein-coding
Descriptionhistone-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 date20180523
UniProtAcc

O14686

ContextPubMed: KMT2D [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
KMT2D

GO:0043627

response to estrogen

16603732


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Exon skipping events across known transcript of Ensembl for KMT2D from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for KMT2D

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for KMT2D

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_917881249415825:49415934:49416062:49416136:49416372:4941665849416062:49416136ENSG00000167548.10ENST00000301067.7,ENST00000526209.1
exon_skip_917921249416372:49416658:49417835:49417883:49418360:4941840749417835:49417883ENSG00000167548.10ENST00000526209.1
exon_skip_917941249416372:49416658:49418360:49418491:49418592:4941872949418360:49418491ENSG00000167548.10ENST00000301067.7
exon_skip_918001249418592:49418729:49419964:49421105:49421585:4942171349419964:49421105ENSG00000167548.10ENST00000301067.7
exon_skip_918021249421791:49421924:49422610:49422741:49422843:4942301949422610:49422741ENSG00000167548.10ENST00000301067.7
exon_skip_918051249424383:49424551:49424675:49424816:49424957:4942509549424675:49424816ENSG00000167548.10ENST00000552391.1,ENST00000301067.7
exon_skip_918081249428192:49428259:49428364:49428449:49428594:4942871849428364:49428449ENSG00000167548.10ENST00000301067.7
exon_skip_918121249437650:49437781:49437982:49438087:49438185:4943830549437982:49438087ENSG00000167548.10ENST00000301067.7
exon_skip_918141249446989:49447104:49447258:49447424:49447760:4944792349447258:49447424ENSG00000167548.10ENST00000301067.7
exon_skip_918151249447760:49447923:49448089:49448199:49448310:4944853449448089:49448199ENSG00000167548.10ENST00000301067.7
exon_skip_918161249448310:49448534:49448682:49448809:49449058:4944910749448682:49448809ENSG00000167548.10ENST00000547610.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for KMT2D

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_917881249415825:49415934:49416062:49416136:49416372:4941665849416062:49416136ENSG00000167548.10ENST00000301067.7,ENST00000526209.1
exon_skip_917921249416372:49416658:49417835:49417883:49418360:4941840749417835:49417883ENSG00000167548.10ENST00000526209.1
exon_skip_917941249416372:49416658:49418360:49418491:49418592:4941872949418360:49418491ENSG00000167548.10ENST00000301067.7
exon_skip_918001249418592:49418729:49419964:49421105:49421585:4942171349419964:49421105ENSG00000167548.10ENST00000301067.7
exon_skip_918021249421791:49421924:49422610:49422741:49422843:4942301949422610:49422741ENSG00000167548.10ENST00000301067.7
exon_skip_918051249424383:49424551:49424675:49424816:49424957:4942509549424675:49424816ENSG00000167548.10ENST00000301067.7,ENST00000552391.1
exon_skip_918081249428192:49428259:49428364:49428449:49428594:4942871849428364:49428449ENSG00000167548.10ENST00000301067.7
exon_skip_918121249437650:49437781:49437982:49438087:49438185:4943830549437982:49438087ENSG00000167548.10ENST00000301067.7
exon_skip_918151249447760:49447923:49448089:49448199:49448310:4944853449448089:49448199ENSG00000167548.10ENST00000301067.7
exon_skip_918161249448310:49448534:49448682:49448809:49449058:4944910749448682:49448809ENSG00000167548.10ENST00000547610.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for KMT2D

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003010674941606249416136Frame-shift
ENST000003010674941836049418491Frame-shift
ENST000003010674941996449421105Frame-shift
ENST000003010674942261049422741Frame-shift
ENST000003010674942836449428449Frame-shift
ENST000003010674944725849447424Frame-shift
ENST000003010674944808949448199Frame-shift
ENST000003010674942467549424816In-frame
ENST000003010674943798249438087In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003010674941606249416136Frame-shift
ENST000003010674941836049418491Frame-shift
ENST000003010674941996449421105Frame-shift
ENST000003010674942261049422741Frame-shift
ENST000003010674942836449428449Frame-shift
ENST000003010674944808949448199Frame-shift
ENST000003010674942467549424816In-frame
ENST000003010674943798249438087In-frame

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Infer the effects of exon skipping event on protein functional features for KMT2D

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000030106719436553749437982494380875084518816941729
ENST000003010671943655374942467549424816135311367145104557

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000030106719436553749437982494380875084518816941729
ENST000003010671943655374942467549424816135311367145104557

check button 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 featureDescription of feature
O146861694172917291729Alternative sequenceID=VSP_008560;Note=In isoform 3. E->EGET;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9247308;Dbxref=PMID:9247308
O146861694172915537ChainID=PRO_0000124878;Note=Histone-lysine N-methyltransferase 2D
O146861694172917181718Natural variantID=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
O146864510455715537ChainID=PRO_0000124878;Note=Histone-lysine N-methyltransferase 2D


check button 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 featureDescription of feature
O146861694172917291729Alternative sequenceID=VSP_008560;Note=In isoform 3. E->EGET;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9247308;Dbxref=PMID:9247308
O146861694172915537ChainID=PRO_0000124878;Note=Histone-lysine N-methyltransferase 2D
O146861694172917181718Natural variantID=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
O146864510455715537ChainID=PRO_0000124878;Note=Histone-lysine N-methyltransferase 2D


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SNVs in the skipped exons for KMT2D

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
KMT2D_ESCA_exon_skip_91800_psi_boxplot.png
boxplot
KMT2D_HNSC_exon_skip_91800_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_91794
49418361494184914941848249418482Frame_Shift_DelC-p.V5311fs
HNSCTCGA-QK-A8ZB-01exon_skip_91800
49419965494211054942054749420565Frame_Shift_DelCCGTGGACCAAAGGGCACA-p.CALWSTE5062fs
LIHCTCGA-G3-A3CJ-01exon_skip_91800
49419965494211054942055349420554Frame_Shift_DelAC-p.WS5065fs
LIHCTCGA-CC-A5UE-01exon_skip_91800
49419965494211054942097949420979Frame_Shift_DelA-p.S4924fs
BLCATCGA-BT-A42B-01exon_skip_91800
49419965494211054942099049421006Frame_Shift_DelGGGGAAGGGGGCGGGGA-p.SPPPSP4915fs
HNSCTCGA-UF-A7JT-01exon_skip_91802
49422611494227414942262649422627Frame_Shift_DelAG-p.S4789fs
BLCATCGA-BL-A5ZZ-01exon_skip_91812
49437983494380874943803249438033Frame_Shift_DelCC-p.G1713fs
BLCATCGA-XF-AAN0-01exon_skip_91812
49437983494380874943803649438036Frame_Shift_DelT-p.K1712fs
LIHCTCGA-DD-A39Y-01exon_skip_91812
49437983494380874943803649438036Frame_Shift_DelT-p.K1712fs
HNSCTCGA-F7-A61W-01exon_skip_91814
49447259494474244944738549447385Frame_Shift_DelA-p.L238fs
LIHCTCGA-DD-A1EG-01exon_skip_91815
49448090494481994944814749448147Frame_Shift_DelC-p.G151fs
LIHCTCGA-DD-A39Y-01exon_skip_91815
49448090494481994944814749448147Frame_Shift_DelC-p.G151fs
BLCATCGA-ZF-A9R3-01exon_skip_91800
49419965494211054942020349420204Frame_Shift_Ins-Cp.G5182fs
BLCATCGA-G2-A3IB-01exon_skip_91800
49419965494211054942034249420343Frame_Shift_Ins-GCp.H5136fs
ESCATCGA-LN-A5U5-01exon_skip_91800
49419965494211054942037749420378Frame_Shift_Ins-Ap.M5124fs
HNSCTCGA-CV-7252-01exon_skip_91800
49419965494211054942067149420672Frame_Shift_Ins-GGTAp.-5025fs
LGGTCGA-HT-7681-01exon_skip_91788
49416063494161364941613349416133Nonsense_MutationGAp.R5448*
BLCATCGA-GU-A767-01exon_skip_91794
49418361494184914941847049418470Nonsense_MutationGAp.Q5315*
BLCATCGA-ZF-A9R4-01exon_skip_91800
49419965494211054941996849419968Nonsense_MutationGAp.Q5261*
BLCATCGA-XF-AAMG-01exon_skip_91800
49419965494211054942004949420049Nonsense_MutationCAp.E5234*
BLCATCGA-DK-A3X1-01exon_skip_91800
49419965494211054942024149420241Nonsense_MutationGAp.Q5170*
BLCATCGA-GC-A6I1-01exon_skip_91800
49419965494211054942067049420670Nonsense_MutationGAp.R5027*
BLCATCGA-2F-A9KO-01exon_skip_91800
49419965494211054942068849420688Nonsense_MutationGAp.R5021*
BLCATCGA-DK-AA71-01exon_skip_91800
49419965494211054942073349420733Nonsense_MutationCAp.E5006*
BLCATCGA-XF-A9T5-01exon_skip_91800
49419965494211054942080349420803Nonsense_MutationCTp.W4982*
BLCATCGA-XF-A9T8-01exon_skip_91800
49419965494211054942109049421090Nonsense_MutationCAp.E4887*
BLCATCGA-ZF-A9R4-01exon_skip_91802
49422611494227414942271949422719Nonsense_MutationATp.Y4758*
BLCATCGA-DK-A3IM-01exon_skip_91805
49424676494248164942474149424741Nonsense_MutationGAp.R4536*
LUADTCGA-17-Z057-01exon_skip_91812
49437983494380874943802249438022Nonsense_MutationGAp.Q1717*
CESCTCGA-C5-A1MN-01exon_skip_91812
49437983494380874943804049438040Nonsense_MutationTAp.K1711*
HNSCTCGA-CR-6487-01exon_skip_91816
49448683494488094944869349448693Nonsense_MutationGAp.Q56*
BLCATCGA-FD-A6TE-01exon_skip_91816
49448683494488094944870549448705Nonsense_MutationGAp.Q52*
BLCATCGA-GU-A762-01exon_skip_91816
49448683494488094944870549448705Nonsense_MutationGAp.Q52*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
KMT2D_49418592_49418729_49419964_49421105_49421585_49421713_TCGA-LN-A5U5-01Sample: TCGA-LN-A5U5-01
Cancer type: ESCA
ESID: exon_skip_91800
Skipped exon start: 49419965
Skipped exon end: 49421105
Mutation start: 49420377
Mutation end: 49420378
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: A
AAchange: p.M5124fs
exon_skip_91800_ESCA_TCGA-LN-A5U5-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
GCIY_STOMACH49419965494211054942015149420154Frame_Shift_DelGAAA-p.FH5199fs
SNU324_PANCREAS49419965494211054942020449420204Frame_Shift_DelC-p.G5182fs
P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942027149420271Frame_Shift_DelC-p.D5160fs
KYSE450_OESOPHAGUS49419965494211054942028349420286Frame_Shift_DelAGAC-p.VY5155fs
VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942042749420436Frame_Shift_DelGCATGCGATT-p.NRMR5105fs
TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49447259494474244944738949447389Frame_Shift_DelC-p.E237fs
SNUC2B_LARGE_INTESTINE49419965494211054942020349420204Frame_Shift_Ins-Cp.G5182fs
BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49428365494284494942841049428411Frame_Shift_Ins-Cp.G3465fs
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49428365494284494942841049428411Frame_Shift_Ins-Cp.G3465fs
EN_ENDOMETRIUM49418361494184914941841849418418Missense_MutationAGp.M5332T
IM95_STOMACH49418361494184914941844649418446Missense_MutationGAp.R5323C
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49418361494184914941848849418488Missense_MutationGCp.P5309A
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942007649420076Missense_MutationGAp.R5225C
CAL51_BREAST49419965494211054942010849420108Missense_MutationCTp.R5214H
TGBC11TKB_STOMACH49419965494211054942010849420108Missense_MutationCTp.R5214H
TC71_BONE49419965494211054942010949420109Missense_MutationGAp.R5214C
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942012049420120Missense_MutationTCp.Y5210C
HEC108_ENDOMETRIUM49419965494211054942016049420160Missense_MutationCTp.A5197T
2313287_STOMACH49419965494211054942016049420160Missense_MutationCTp.A5197T
CW2_LARGE_INTESTINE49419965494211054942020249420202Missense_MutationGTp.L5183I
UMUC16_URINARY_TRACT49419965494211054942021449420214Missense_MutationGTp.R5179S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942022849420228Missense_MutationCTp.R5174Q
UDSCC2_UPPER_AERODIGESTIVE_TRACT49419965494211054942028849420288Missense_MutationCTp.R5154Q
SW948_LARGE_INTESTINE49419965494211054942039149420391Missense_MutationGAp.R5120C
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942041549420415Missense_MutationCAp.V5112F
CORL47_LUNG49419965494211054942042349420423Missense_MutationCTp.C5109Y
HT115_LARGE_INTESTINE49419965494211054942045949420459Missense_MutationCTp.R5097Q
TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942047449420474Missense_MutationCTp.C5092Y
OC316_OVARY49419965494211054942050549420505Missense_MutationCTp.V5082I
OC314_OVARY49419965494211054942050549420505Missense_MutationCTp.V5082I
TOV21G_OVARY49419965494211054942054949420549Missense_MutationGAp.T5067M
RKO_LARGE_INTESTINE49419965494211054942058249420582Missense_MutationAGp.L5056P
EFO27_OVARY49419965494211054942060649420606Missense_MutationCTp.R5048H
KYSE270_OESOPHAGUS49419965494211054942060649420606Missense_MutationCTp.R5048H
HKA1_SKIN49419965494211054942060749420607Missense_MutationGAp.R5048C
SNU1040_LARGE_INTESTINE49419965494211054942065749420657Missense_MutationCTp.R5031H
SNU1_STOMACH49419965494211054942066149420661Missense_MutationGAp.R5030C
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942066149420661Missense_MutationGAp.R5030C
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942066349420663Missense_MutationAGp.M5029T
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942076049420760Missense_MutationGTp.Q4997K
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942079249420792Missense_MutationCTp.R4986H
HEC59_ENDOMETRIUM49419965494211054942079549420795Missense_MutationAGp.V4985A
HEC6_ENDOMETRIUM49419965494211054942081949420819Missense_MutationGAp.P4977L
SNU1040_LARGE_INTESTINE49419965494211054942085249420852Missense_MutationCTp.R4966Q
NB17_AUTONOMIC_GANGLIA49419965494211054942091949420919Missense_MutationGTp.P4944T
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM49419965494211054942093449420934Missense_MutationCTp.E4939K
SKMEL5_SKIN49419965494211054942093449420934Missense_MutationCTp.E4939K
CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942101049421010Missense_MutationTGp.E4913D
HUH28_BILIARY_TRACT49419965494211054942101849421018Missense_MutationGAp.P4911S
NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942102949421029Missense_MutationGAp.S4907L
SKGIIIA_CERVIX49419965494211054942102949421029Missense_MutationGAp.S4907L
HS604T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942104849421048Missense_MutationGCp.L4901V
KM12_LARGE_INTESTINE49419965494211054942109849421098Missense_MutationGAp.P4884L
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49422611494227414942264549422645Missense_MutationGAp.S4783L
NCIH2066_LUNG49424676494248164942471449424714Missense_MutationCAp.V4545F
BB65EBV_MATCHED_NORMAL_TISSUE49424676494248164942471449424714Missense_MutationCAp.V4545F
BB65RCC_KIDNEY49424676494248164942471449424714Missense_MutationCAp.V4545F
NCIH23_LUNG49428365494284494942841149428411Missense_MutationCAp.G3465V
BB65RCC_KIDNEY49437983494380874943804849438048Missense_MutationGTp.T1708K
OCIMY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49447259494474244944728949447289Missense_MutationCTp.C270Y
NCIH1436_LUNG49447259494474244944732349447323Missense_MutationCAp.A259S
KMRC2_KIDNEY49447259494474244944736449447364Missense_MutationGCp.T245S
EFO21_OVARY49447259494474244944739549447395Missense_MutationGTp.P235T
OCUBM_BREAST49447259494474244944740049447400Missense_MutationTAp.E233V
HCT116_LARGE_INTESTINE49448090494481994944812249448122Missense_MutationCTp.V160M
NCIH1155_LUNG49448683494488094944874749448747Missense_MutationCTp.V38M
NCIH1876_LUNG49416063494161364941613349416133Nonsense_MutationGAp.R5448*
WM983B_SKIN49418361494184914941836649418366Nonsense_MutationGTp.Y5349*
TGBC24TKB_BILIARY_TRACT49419965494211054942004949420049Nonsense_MutationCAp.E5234*
SNUC4_LARGE_INTESTINE49419965494211054942006849420068Nonsense_MutationGTp.C5227*
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942027749420277Nonsense_MutationCAp.E5158*
MZ1PC_PANCREAS49419965494211054942038049420380Nonsense_MutationGTp.C5123*
RERFLCFM_LUNG49419965494211054942049049420490Nonsense_MutationCAp.G5087*
KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49419965494211054942080349420803Nonsense_MutationCTp.W4982*
SNU1040_LARGE_INTESTINE49419965494211054942087149420871Nonsense_MutationGAp.R4960*
SW48_LARGE_INTESTINE49419965494211054942103949421039Nonsense_MutationGAp.R4904*
RKO_LARGE_INTESTINE49428365494284494942841249428412Nonsense_MutationCAp.G3465*
639V_URINARY_TRACT49437983494380874943806749438067Nonsense_MutationGAp.R1702*
JHU029_UPPER_AERODIGESTIVE_TRACT49447259494474244944726149447261Nonsense_MutationGTp.C279*
MELJUSO_SKIN49448090494481994944809249448092Nonsense_MutationGAp.Q170*
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49448090494481994944814649448146Nonsense_MutationGAp.Q152*
SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49448683494488094944869349448693Nonsense_MutationGAp.Q56*
MZ7MEL_SKIN49437983494380874943798449437984Splice_SiteCTp.E1729E
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49448683494488094944868349448683Splice_SiteCTp.S59N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KMT2D

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KMT2D


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KMT2D


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RelatedDrugs for KMT2D

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for KMT2D

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
KMT2DC0796004Kabuki make-up syndrome5CTD_human;ORPHANET;UNIPROT
KMT2DC0005695Bladder Neoplasm1CTD_human
KMT2DC0010701Phyllodes Tumor1CTD_human
KMT2DC0021364Male infertility1CTD_human
KMT2DC0024301Lymphoma, Follicular1CTD_human
KMT2DC0036920Sezary Syndrome1CTD_human
KMT2DC0079744Diffuse Large B-Cell Lymphoma1CTD_human
KMT2DC0079772T-Cell Lymphoma1CTD_human
KMT2DC0279626Squamous cell carcinoma of esophagus1CTD_human
KMT2DC1458155Mammary Neoplasms1CTD_human