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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 KDM4C

check button Gene summary
Gene informationGene symbol

KDM4C

Gene ID

23081

Gene namelysine demethylase 4C
SynonymsGASC1|JHDM3C|JMJD2C|TDRD14C
Cytomap

9p24.1

Type of geneprotein-coding
Descriptionlysine-specific demethylase 4CJmjC domain-containing histone demethylation protein 3Cgene amplified in squamous cell carcinoma 1 proteinjumonji domain-containing protein 2Clysine (K)-specific demethylase 4Ctudor domain containing 14C
Modification date20180523
UniProtAcc

Q9H3R0

ContextPubMed: KDM4C [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
KDM4C

GO:0006357

regulation of transcription by RNA polymerase II

17277772

KDM4C

GO:0033169

histone H3-K9 demethylation

18066052|21914792

KDM4C

GO:0070544

histone H3-K36 demethylation

21914792


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Exon skipping events across known transcript of Ensembl for KDM4C 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 KDM4C

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 KDM4C

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_49504996758117:6758203:6792971:6793132:6805598:68057746792971:6793132ENSG00000107077.13ENST00000489243.1,ENST00000536108.1,ENST00000438023.1,ENST00000381309.3,ENST00000543771.1,ENST00000381306.3,ENST00000401787.3
exon_skip_49505096792971:6793132:6805598:6805774:6814630:68147456805598:6805774ENSG00000107077.13ENST00000535193.1,ENST00000489243.1,ENST00000438023.1,ENST00000381309.3,ENST00000543771.1,ENST00000381306.3,ENST00000401787.3
exon_skip_49505296805616:6805774:6814630:6814745:6849506:68497006814630:6814745ENSG00000107077.13ENST00000535193.1,ENST00000489243.1,ENST00000438023.1,ENST00000381309.3,ENST00000543771.1,ENST00000381306.3
exon_skip_49505696814630:6814745:6849506:6849700:6880011:68800616849506:6849700ENSG00000107077.13ENST00000535193.1,ENST00000489243.1,ENST00000438023.1,ENST00000442236.2,ENST00000381309.3,ENST00000543771.1,ENST00000381306.3
exon_skip_49506396980924:6981118:6981841:6982765:6984165:69844046981841:6982765ENSG00000107077.13ENST00000438023.1
exon_skip_49506796984280:6984404:6986343:6986666:6990415:69905246986343:6986666ENSG00000107077.13ENST00000535193.1,ENST00000536108.1,ENST00000428870.2,ENST00000438023.1,ENST00000381309.3,ENST00000543771.1,ENST00000381306.3
exon_skip_49507397015852:7015929:7046861:7046917:7103684:71038707046861:7046917ENSG00000107077.13ENST00000536108.1
exon_skip_49507697046861:7046917:7049091:7049200:7076433:70772627049091:7049200ENSG00000107077.13ENST00000535193.1,ENST00000543771.1
exon_skip_49507797046861:7046917:7049091:7049200:7103684:71038707049091:7049200ENSG00000107077.13ENST00000428870.2,ENST00000442236.2,ENST00000420847.1,ENST00000381309.3,ENST00000381306.3
exon_skip_49507997049191:7049200:7103684:7103870:7128065:71282367103684:7103870ENSG00000107077.13ENST00000428870.2,ENST00000442236.2,ENST00000381309.3,ENST00000381306.3
exon_skip_49508097103684:7103870:7105401:7105500:7128065:71282367105401:7105500ENSG00000107077.13ENST00000420847.1
exon_skip_49508397103684:7103870:7128065:7128236:7165237:71653557128065:7128236ENSG00000107077.13ENST00000536108.1,ENST00000428870.2,ENST00000442236.2,ENST00000381309.3,ENST00000381306.3
exon_skip_49508597105401:7105500:7128065:7128236:7165237:71653557128065:7128236ENSG00000107077.13ENST00000420847.1
exon_skip_49508797128065:7128236:7165237:7165357:7169797:71698297165237:7165357ENSG00000107077.13ENST00000490806.1,ENST00000428870.2,ENST00000466673.1,ENST00000442236.2,ENST00000420847.1,ENST00000381309.3,ENST00000381306.3

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

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Exon skipping events with PSIs in GTEx for KDM4C

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_49504996758117:6758203:6792971:6793132:6805598:68057746792971:6793132ENSG00000107077.13ENST00000438023.1,ENST00000543771.1,ENST00000401787.3,ENST00000381306.3,ENST00000381309.3,ENST00000489243.1,ENST00000536108.1
exon_skip_49505096792971:6793132:6805598:6805774:6814630:68147456805598:6805774ENSG00000107077.13ENST00000535193.1,ENST00000438023.1,ENST00000543771.1,ENST00000401787.3,ENST00000381306.3,ENST00000381309.3,ENST00000489243.1
exon_skip_49505296805616:6805774:6814630:6814745:6849506:68497006814630:6814745ENSG00000107077.13ENST00000535193.1,ENST00000438023.1,ENST00000543771.1,ENST00000381306.3,ENST00000381309.3,ENST00000489243.1
exon_skip_49505696814630:6814745:6849506:6849700:6880011:68800616849506:6849700ENSG00000107077.13ENST00000535193.1,ENST00000438023.1,ENST00000543771.1,ENST00000381306.3,ENST00000381309.3,ENST00000442236.2,ENST00000489243.1
exon_skip_49506396980924:6981118:6981841:6982765:6984165:69844046981841:6982765ENSG00000107077.13ENST00000438023.1
exon_skip_49506796984280:6984404:6986343:6986666:6990415:69905246986343:6986666ENSG00000107077.13ENST00000535193.1,ENST00000438023.1,ENST00000543771.1,ENST00000381306.3,ENST00000381309.3,ENST00000536108.1,ENST00000428870.2
exon_skip_49507397015852:7015929:7046861:7046917:7103684:71038707046861:7046917ENSG00000107077.13ENST00000536108.1
exon_skip_49507697046861:7046917:7049091:7049200:7076433:70772627049091:7049200ENSG00000107077.13ENST00000535193.1,ENST00000543771.1
exon_skip_49507797046861:7046917:7049091:7049200:7103684:71038707049091:7049200ENSG00000107077.13ENST00000381306.3,ENST00000381309.3,ENST00000442236.2,ENST00000428870.2,ENST00000420847.1
exon_skip_49507997049191:7049200:7103684:7103870:7128065:71282367103684:7103870ENSG00000107077.13ENST00000381306.3,ENST00000381309.3,ENST00000442236.2,ENST00000428870.2
exon_skip_49508097103684:7103870:7105401:7105500:7128065:71282367105401:7105500ENSG00000107077.13ENST00000420847.1
exon_skip_49508397103684:7103870:7128065:7128236:7165237:71653557128065:7128236ENSG00000107077.13ENST00000381306.3,ENST00000381309.3,ENST00000442236.2,ENST00000536108.1,ENST00000428870.2
exon_skip_49508597105401:7105500:7128065:7128236:7165237:71653557128065:7128236ENSG00000107077.13ENST00000420847.1
exon_skip_49508797128065:7128236:7165237:7165357:7169797:71698297165237:7165357ENSG00000107077.13ENST00000381306.3,ENST00000381309.3,ENST00000442236.2,ENST00000428870.2,ENST00000420847.1,ENST00000490806.1,ENST00000466673.1

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 KDM4C

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
ENST00000381309679297167931325CDS-5UTR
ENST0000038130968055986805774Frame-shift
ENST0000038130968146306814745Frame-shift
ENST0000038130968495066849700Frame-shift
ENST0000038130969863436986666Frame-shift
ENST0000038130970490917049200Frame-shift
ENST0000038130971036847103870In-frame
ENST0000038130971280657128236In-frame
ENST0000038130971652377165357In-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
ENST00000381309679297167931325CDS-5UTR
ENST0000038130968055986805774Frame-shift
ENST0000038130968146306814745Frame-shift
ENST0000038130968495066849700Frame-shift
ENST0000038130969863436986666Frame-shift
ENST0000038130970490917049200Frame-shift
ENST0000038130971036847103870In-frame
ENST0000038130971280657128236In-frame
ENST0000038130971652377165357In-frame

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Infer the effects of exon skipping event on protein functional features for KDM4C

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
ENST00000381309467210567103684710387029903175808870
ENST00000381309467210567128065712823631763346870927
ENST00000381309467210567165237716535733473466927967

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
ENST00000381309467210567103684710387029903175808870
ENST00000381309467210567128065712823631763346870927
ENST00000381309467210567165237716535733473466927967

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


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


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SNVs in the skipped exons for KDM4C

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.
KDM4C_LIHC_exon_skip_495073_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-A39Y-01exon_skip_495050
6805599680577468057256805725Frame_Shift_DelA-p.K92fs
LIHCTCGA-DD-A39Y-01exon_skip_495050
6805599680577468057256805725Frame_Shift_DelA-p.Q112fs
LIHCTCGA-G3-A3CJ-01exon_skip_495050
6805599680577468057256805725Frame_Shift_DelA-p.K92fs
LIHCTCGA-DD-A39Y-01exon_skip_495056
6849507684970068495466849546Frame_Shift_DelT-p.L159fs
LIHCTCGA-DD-A1EG-01exon_skip_495056
6849507684970068496086849608Frame_Shift_DelT-p.Y179fs
LIHCTCGA-G3-A3CJ-01exon_skip_495067
6986344698666669864476986447Frame_Shift_DelT-p.D486fs
LIHCTCGA-DD-A39Y-01exon_skip_495067
6986344698666669866136986613Frame_Shift_DelG-p.G542fs
LIHCTCGA-G3-A3CJ-01exon_skip_495067
6986344698666669866216986621Frame_Shift_DelC-p.I544fs
LIHCTCGA-DD-A39Y-01exon_skip_495073
7046862704691770468797046879Frame_Shift_DelT-p.N759fs
STADTCGA-D7-A6EY-01exon_skip_495079
7103685710387071038617103861Frame_Shift_DelC-p.N867fs
LGGTCGA-CS-4944-01exon_skip_495085
exon_skip_495083
7128066712823671280747128075Frame_Shift_DelGG-p.873_873del
LGGTCGA-CS-4944-01exon_skip_495085
exon_skip_495083
7128066712823671280747128075Frame_Shift_DelGG-p.KA873fs
LIHCTCGA-G3-A3CJ-01exon_skip_495087
7165238716535771652617165261Frame_Shift_DelC-p.G935fs
LIHCTCGA-DD-A1EG-01exon_skip_495087
7165238716535771653217165321Frame_Shift_DelA-p.A955fs
LGGTCGA-DB-A64R-01exon_skip_495050
6805599680577468056376805637Nonsense_MutationTGp.Y61*
LGGTCGA-DB-A64R-01exon_skip_495050
6805599680577468056376805637Nonsense_MutationTGp.Y83X
UCECTCGA-AX-A05Z-01exon_skip_495076
exon_skip_495077
7049092704920070491327049132Nonsense_MutationCTp.R786*
SKCMTCGA-D9-A6EC-06exon_skip_495056
6849507684970068497026849702Splice_SiteCT.
LIHCTCGA-UB-A7MB-01exon_skip_495073
7046862704691770468607046860Splice_SiteAT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
KDM4C_7015852_7015929_7046861_7046917_7103684_7103870_TCGA-UB-A7MB-01Sample: TCGA-UB-A7MB-01
Cancer type: LIHC
ESID: exon_skip_495073
Skipped exon start: 7046862
Skipped exon end: 7046917
Mutation start: 7046860
Mutation end: 7046860
Mutation type: Splice_Site
Reference seq: A
Mutation seq: T
AAchange: .
exon_skip_124728_LIHC_TCGA-UB-A7MB-01.png
boxplot
exon_skip_128735_LIHC_TCGA-UB-A7MB-01.png
boxplot
exon_skip_136487_LIHC_TCGA-UB-A7MB-01.png
boxplot
exon_skip_32461_LIHC_TCGA-UB-A7MB-01.png
boxplot
exon_skip_495073_LIHC_TCGA-UB-A7MB-01.png
boxplot
exon_skip_85286_LIHC_TCGA-UB-A7MB-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
SNU1040_LARGE_INTESTINE6792972679313267929926792992Missense_MutationGAp.E2K
KNS62_LUNG6792972679313267929996792999Missense_MutationCAp.A4D
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6792972679313267930116793011Missense_MutationGTp.S8I
H4_CENTRAL_NERVOUS_SYSTEM6805599680577468056096805609Missense_MutationCAp.P52H
NCIH2286_LUNG6805599680577468056796805679Missense_MutationGTp.Q75H
HCC1195_LUNG6805599680577468056946805694Missense_MutationGTp.Q80H
HEC251_ENDOMETRIUM6805599680577468057326805732Missense_MutationCTp.A93V
LN443_CENTRAL_NERVOUS_SYSTEM6805599680577468057436805743Missense_MutationACp.K97Q
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6814631681474568146716814671Missense_MutationCTp.R121C
A427_LUNG6814631681474568147136814713Missense_MutationGCp.G135R
SNU175_LARGE_INTESTINE6849507684970068495106849510Missense_MutationGAp.V147M
JHUEM7_ENDOMETRIUM6849507684970068495326849532Missense_MutationGAp.R154H
SNU478_BILIARY_TRACT6986344698666669863736986373Missense_MutationGAp.E462K
LN382_CENTRAL_NERVOUS_SYSTEM6986344698666669863776986377Missense_MutationATp.D463V
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM6986344698666669865036986503Missense_MutationTGp.L505R
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6986344698666669865416986541Missense_MutationGTp.A518S
NCIH1792_LUNG6986344698666669865716986571Missense_MutationGAp.E528K
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6986344698666669866446986644Missense_MutationGAp.R552K
OVK18_OVARY7049092704920070491177049117Missense_MutationGAp.A781T
HUCCT1_BILIARY_TRACT7049092704920070491177049117Missense_MutationGTp.A781S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7049092704920070491727049172Missense_MutationGAp.G799D
BICR18_UPPER_AERODIGESTIVE_TRACT7049092704920070491727049172Missense_MutationGAp.G799D
CPCN_LUNG7103685710387071037167103716Missense_MutationGTp.R819M
NCIH740_LUNG7103685710387071037177103717Missense_MutationGTp.R819S
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7103685710387071037587103758Missense_MutationCTp.P833L
BCPAP_THYROID7103685710387071037967103796Missense_MutationGAp.V846I
GP2D_LARGE_INTESTINE7103685710387071037977103797Missense_MutationTCp.V846A
IGROV1_OVARY7128066712823671280817128081Missense_MutationGAp.E876K
HAL01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7128066712823671280947128094Missense_MutationCGp.S880C
HS578T_BREAST7128066712823671281327128132Missense_MutationCTp.R893W
TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7128066712823671281327128132Missense_MutationCTp.R893W
SNU1040_LARGE_INTESTINE7128066712823671281627128162Missense_MutationAGp.T903A
JHUEM1_ENDOMETRIUM7165238716535771652597165259Missense_MutationGAp.G935S
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7165238716535771652837165283Missense_MutationGAp.V943I
OSRC2_KIDNEY7165238716535771653197165319Missense_MutationGAp.A955T
TUHR10TKB_KIDNEY7165238716535771653207165320Missense_MutationCTp.A955V
NCIH1770_LUNG7165238716535771653317165331Missense_MutationGAp.G959R
NCIH2106_LUNG7165238716535771653317165331Missense_MutationGAp.G959R
LS411N_LARGE_INTESTINE6849507684970068496386849638Nonsense_MutationGAp.W189*
COLO792_SKIN7049092704920070491327049132Nonsense_MutationCTp.R786*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KDM4C

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_49507397015852:7015929:7046861:7046917:7103684:71038707046861:7046917ENST00000536108.1LGGrs1407856chr9:7046901C/G7.36e-04
exon_skip_49507397015852:7015929:7046861:7046917:7103684:71038707046861:7046917ENST00000536108.1KIRCrs1407856chr9:7046901C/G2.23e-05
exon_skip_49507397015852:7015929:7046861:7046917:7103684:71038707046861:7046917ENST00000536108.1KIRCrs1417290chr9:7046917A/G9.36e-04
exon_skip_49507397015852:7015929:7046861:7046917:7103684:71038707046861:7046917ENST00000536108.1PRADrs1407856chr9:7046901C/G6.46e-05
exon_skip_49507397015852:7015929:7046861:7046917:7103684:71038707046861:7046917ENST00000536108.1THYMrs1407856chr9:7046901C/G2.71e-04
exon_skip_49507397015852:7015929:7046861:7046917:7103684:71038707046861:7046917ENST00000536108.1THCArs1407856chr9:7046901C/G9.68e-05
exon_skip_49506396980924:6981118:6981841:6982765:6984165:69844046981841:6982765ENST00000438023.1BRCArs818911chr9:6982099G/A5.29e-05
exon_skip_49506396980924:6981118:6981841:6982765:6984165:69844046981841:6982765ENST00000438023.1BRCArs818911chr9:6982099G/A9.82e-05
exon_skip_49506396980924:6981118:6981841:6982765:6984165:69844046981841:6982765ENST00000438023.1KIRCrs818911chr9:6982099G/A1.36e-04
exon_skip_49506396980924:6981118:6981841:6982765:6984165:69844046981841:6982765ENST00000438023.1LUADrs818911chr9:6982099G/A2.47e-03
exon_skip_49506396980924:6981118:6981841:6982765:6984165:69844046981841:6982765ENST00000438023.1TGCTrs818911chr9:6982099G/A3.20e-04
exon_skip_49506396980924:6981118:6981841:6982765:6984165:69844046981841:6982765ENST00000438023.1THCArs818911chr9:6982099G/A3.12e-08
exon_skip_49506796984280:6984404:6986343:6986666:6990415:69905246986343:6986666ENST00000535193.1,ENST00000536108.1,ENST00000428870.2,ENST00000438023.1,ENST00000381309.3,ENST00000543771.1,ENST00000381306.3ESCArs35826653chr9:6986464G/C2.88e-04
exon_skip_49506796984280:6984404:6986343:6986666:6990415:69905246986343:6986666ENST00000535193.1,ENST00000536108.1,ENST00000428870.2,ENST00000438023.1,ENST00000381309.3,ENST00000543771.1,ENST00000381306.3PRADrs35826653chr9:6986464G/C7.44e-04
exon_skip_49506796984280:6984404:6986343:6986666:6990415:69905246986343:6986666ENST00000535193.1,ENST00000536108.1,ENST00000428870.2,ENST00000438023.1,ENST00000381309.3,ENST00000543771.1,ENST00000381306.3PRADrs35826653chr9:6986464G/C1.19e-03
exon_skip_49506796984280:6984404:6986343:6986666:6990415:69905246986343:6986666ENST00000535193.1,ENST00000536108.1,ENST00000428870.2,ENST00000438023.1,ENST00000381309.3,ENST00000543771.1,ENST00000381306.3TGCTrs35826653chr9:6986464G/C4.71e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KDM4C


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KDM4C


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RelatedDrugs for KDM4C

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 KDM4C

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
KDM4CC0025149Medulloblastoma1CTD_human
KDM4CC0236663Alcohol withdrawal syndrome1PSYGENET