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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 MON2

check button Gene summary
Gene informationGene symbol

MON2

Gene ID

23041

Gene nameMON2 homolog, regulator of endosome-to-Golgi trafficking
Synonyms-
Cytomap

12q14.1

Type of geneprotein-coding
Descriptionprotein MON2 homologMON2 regulator of endosome-to-Golgi trafficking
Modification date20180522
UniProtAcc

Q7Z3U7

ContextPubMed: MON2 [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

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Exon skipping events across known transcript of Ensembl for MON2 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 MON2

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 MON2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_848791262860841:62861098:62864480:62864558:62877949:6287801362864480:62864558ENSG00000061987.10ENST00000547095.1
exon_skip_848801262860841:62861098:62877949:62878013:62887694:6288771662877949:62878013ENSG00000061987.10ENST00000393629.2,ENST00000393630.3,ENST00000552738.1,ENST00000546600.1,ENST00000552115.1,ENST00000280379.6
exon_skip_848831262877949:62878013:62883815:62883896:62887694:6288771662883815:62883896ENSG00000061987.10ENST00000549286.1
exon_skip_848841262877949:62878013:62887694:62887822:62888795:6288892762887694:62887822ENSG00000061987.10ENST00000393629.2,ENST00000393630.3,ENST00000552738.1,ENST00000546600.1,ENST00000552115.1,ENST00000547095.1,ENST00000280379.6,ENST00000393632.2
exon_skip_848871262887694:62887822:62888795:62888927:62892698:6289282862888795:62888927ENSG00000061987.10ENST00000393629.2,ENST00000393630.3,ENST00000552738.1,ENST00000546600.1,ENST00000552115.1,ENST00000547095.1,ENST00000280379.6,ENST00000393632.2
exon_skip_848881262895352:62895478:62902065:62902260:62918294:6291841962902065:62902260ENSG00000061987.10ENST00000393629.2,ENST00000393630.3,ENST00000552738.1,ENST00000546600.1,ENST00000552115.1,ENST00000547095.1,ENST00000280379.6,ENST00000393632.2
exon_skip_848891262930930:62931043:62931381:62931486:62931875:6293195662931381:62931486ENSG00000061987.10ENST00000393629.2,ENST00000393630.3,ENST00000552738.1,ENST00000546600.1,ENST00000552115.1,ENST00000547095.1,ENST00000280379.6,ENST00000393632.2
exon_skip_848901262932194:62932285:62936876:62936978:62938677:6293878862936876:62936978ENSG00000061987.10ENST00000393629.2,ENST00000552738.1,ENST00000546600.1,ENST00000552115.1,ENST00000547095.1,ENST00000393632.2
exon_skip_848911262936876:62936978:62938545:62938548:62938677:6293878862938545:62938548ENSG00000061987.10ENST00000393630.3,ENST00000280379.6
exon_skip_848921262936876:62936978:62938677:62938788:62940676:6294085262938677:62938788ENSG00000061987.10ENST00000393629.2,ENST00000552738.1,ENST00000546600.1,ENST00000552115.1,ENST00000547095.1,ENST00000393632.2
exon_skip_848931262940676:62940852:62943447:62943610:62946660:6294695462943447:62943610ENSG00000061987.10ENST00000393629.2,ENST00000393630.3,ENST00000552738.1,ENST00000546600.1,ENST00000552115.1,ENST00000547095.1,ENST00000280379.6,ENST00000393632.2
exon_skip_848941262943447:62943610:62946660:62946954:62949773:6294997262946660:62946954ENSG00000061987.10ENST00000393629.2,ENST00000393630.3,ENST00000552738.1,ENST00000546600.1,ENST00000547095.1,ENST00000280379.6,ENST00000393632.2
exon_skip_848961262949773:62949972:62954270:62954893:62959016:6295916062954270:62954893ENSG00000061987.10ENST00000393629.2,ENST00000393630.3,ENST00000552738.1,ENST00000546600.1,ENST00000547095.1,ENST00000280379.6,ENST00000393632.2
exon_skip_848981262959016:62959160:62959793:62959811:62960101:6296023062959793:62959811ENSG00000061987.10ENST00000393630.3,ENST00000546600.1,ENST00000547095.1,ENST00000280379.6,ENST00000393632.2
exon_skip_849001262960101:62960230:62965171:62965362:62972224:6297228562965171:62965362ENSG00000061987.10ENST00000393629.2,ENST00000551307.1,ENST00000393630.3,ENST00000552738.1,ENST00000546600.1,ENST00000547095.1,ENST00000280379.6,ENST00000393632.2
exon_skip_849061262965171:62965362:62972224:62972285:62974076:6297420062972224:62972285ENSG00000061987.10ENST00000393629.2,ENST00000551307.1,ENST00000393630.3,ENST00000552738.1,ENST00000546600.1,ENST00000547095.1,ENST00000280379.6,ENST00000393632.2
exon_skip_849081262979073:62979281:62981853:62981936:62986365:6298663862981853:62981936ENSG00000061987.10ENST00000393629.2,ENST00000551307.1,ENST00000393630.3,ENST00000552738.1,ENST00000547095.1,ENST00000393632.2
exon_skip_849091262981853:62981936:62982635:62982696:62986365:6298663862982635:62982696ENSG00000061987.10ENST00000546600.1

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

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Exon skipping events with PSIs in GTEx for MON2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_848791262860841:62861098:62864480:62864558:62877949:6287801362864480:62864558ENSG00000061987.10ENST00000547095.1
exon_skip_848801262860841:62861098:62877949:62878013:62887694:6288771662877949:62878013ENSG00000061987.10ENST00000393630.3,ENST00000280379.6,ENST00000546600.1,ENST00000552738.1,ENST00000393629.2,ENST00000552115.1
exon_skip_848831262877949:62878013:62883815:62883896:62887694:6288771662883815:62883896ENSG00000061987.10ENST00000549286.1
exon_skip_848841262877949:62878013:62887694:62887822:62888795:6288892762887694:62887822ENSG00000061987.10ENST00000393632.2,ENST00000393630.3,ENST00000280379.6,ENST00000546600.1,ENST00000547095.1,ENST00000552738.1,ENST00000393629.2,ENST00000552115.1
exon_skip_848871262887694:62887822:62888795:62888927:62892698:6289282862888795:62888927ENSG00000061987.10ENST00000393632.2,ENST00000393630.3,ENST00000280379.6,ENST00000546600.1,ENST00000547095.1,ENST00000552738.1,ENST00000393629.2,ENST00000552115.1
exon_skip_848881262895352:62895478:62902065:62902260:62918294:6291841962902065:62902260ENSG00000061987.10ENST00000393632.2,ENST00000393630.3,ENST00000280379.6,ENST00000546600.1,ENST00000547095.1,ENST00000552738.1,ENST00000393629.2,ENST00000552115.1
exon_skip_848891262930930:62931043:62931381:62931486:62931875:6293195662931381:62931486ENSG00000061987.10ENST00000393632.2,ENST00000393630.3,ENST00000280379.6,ENST00000546600.1,ENST00000547095.1,ENST00000552738.1,ENST00000393629.2,ENST00000552115.1
exon_skip_848901262932194:62932285:62936876:62936978:62938677:6293878862936876:62936978ENSG00000061987.10ENST00000393632.2,ENST00000546600.1,ENST00000547095.1,ENST00000552738.1,ENST00000393629.2,ENST00000552115.1
exon_skip_848911262936876:62936978:62938545:62938548:62938677:6293878862938545:62938548ENSG00000061987.10ENST00000393630.3,ENST00000280379.6
exon_skip_848921262936876:62936978:62938677:62938788:62940676:6294085262938677:62938788ENSG00000061987.10ENST00000393632.2,ENST00000546600.1,ENST00000547095.1,ENST00000552738.1,ENST00000393629.2,ENST00000552115.1
exon_skip_848931262940676:62940852:62943447:62943610:62946660:6294695462943447:62943610ENSG00000061987.10ENST00000393632.2,ENST00000393630.3,ENST00000280379.6,ENST00000546600.1,ENST00000547095.1,ENST00000552738.1,ENST00000393629.2,ENST00000552115.1
exon_skip_848941262943447:62943610:62946660:62946954:62949773:6294997262946660:62946954ENSG00000061987.10ENST00000393632.2,ENST00000393630.3,ENST00000280379.6,ENST00000546600.1,ENST00000547095.1,ENST00000552738.1,ENST00000393629.2
exon_skip_848961262949773:62949972:62954270:62954893:62959016:6295916062954270:62954893ENSG00000061987.10ENST00000393632.2,ENST00000393630.3,ENST00000280379.6,ENST00000546600.1,ENST00000547095.1,ENST00000552738.1,ENST00000393629.2
exon_skip_848981262959016:62959160:62959793:62959811:62960101:6296023062959793:62959811ENSG00000061987.10ENST00000393632.2,ENST00000393630.3,ENST00000280379.6,ENST00000546600.1,ENST00000547095.1
exon_skip_849001262960101:62960230:62965171:62965362:62972224:6297228562965171:62965362ENSG00000061987.10ENST00000393632.2,ENST00000393630.3,ENST00000280379.6,ENST00000546600.1,ENST00000547095.1,ENST00000552738.1,ENST00000393629.2,ENST00000551307.1
exon_skip_849061262965171:62965362:62972224:62972285:62974076:6297420062972224:62972285ENSG00000061987.10ENST00000393632.2,ENST00000393630.3,ENST00000280379.6,ENST00000546600.1,ENST00000547095.1,ENST00000552738.1,ENST00000393629.2,ENST00000551307.1
exon_skip_849081262979073:62979281:62981853:62981936:62986365:6298663862981853:62981936ENSG00000061987.10ENST00000393632.2,ENST00000393630.3,ENST00000547095.1,ENST00000552738.1,ENST00000393629.2,ENST00000551307.1
exon_skip_849091262981853:62981936:62982635:62982696:62986365:6298663862982635:62982696ENSG00000061987.10ENST00000546600.1

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 MON2

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
ENST000003936306287794962878013Frame-shift
ENST000003936306288769462887822Frame-shift
ENST000003936306294344762943610Frame-shift
ENST000003936306295427062954893Frame-shift
ENST000003936306296517162965362Frame-shift
ENST000003936306297222462972285Frame-shift
ENST000003936306298185362981936Frame-shift
ENST000003936306288879562888927In-frame
ENST000003936306290206562902260In-frame
ENST000003936306293138162931486In-frame
ENST000003936306293854562938548In-frame
ENST000003936306294666062946954In-frame
ENST000003936306295979362959811In-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
ENST000003936306287794962878013Frame-shift
ENST000003936306288769462887822Frame-shift
ENST000003936306294344762943610Frame-shift
ENST000003936306295427062954893Frame-shift
ENST000003936306296517162965362Frame-shift
ENST000003936306297222462972285Frame-shift
ENST000003936306298185362981936Frame-shift
ENST000003936306288879562888927In-frame
ENST000003936306290206562902260In-frame
ENST000003936306293138162931486In-frame
ENST000003936306293854562938548In-frame
ENST000003936306294666062946954In-frame
ENST000003936306295979362959811In-frame

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Infer the effects of exon skipping event on protein functional features for MON2

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
ENST000003936301039917176288879562888927695826101145
ENST00000393630103991717629020656290226011811375263328
ENST00000393630103991717629313816293148624052509671706
ENST000003936301039917176294666062946954331136049731071

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
ENST000003936301039917176288879562888927695826101145
ENST00000393630103991717629020656290226011811375263328
ENST00000393630103991717629313816293148624052509671706
ENST000003936301039917176294666062946954331136049731071

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 MON2

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.
MON2_LUSC_exon_skip_84889_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_84884
62887695628878226288774162887741Frame_Shift_DelT-p.G74fs
LIHCTCGA-G3-A3CJ-01exon_skip_84888
62902066629022606290224662902246Frame_Shift_DelT-p.F324fs
STADTCGA-BR-4184-01exon_skip_84894
62946661629469546294667862946678Frame_Shift_DelT-p.Y978fs
LIHCTCGA-DD-A1EG-01exon_skip_84894
62946661629469546294676462946764Frame_Shift_DelT-p.V1008fs
STADTCGA-BR-4279-01exon_skip_84896
62954271629548936295443262954433Frame_Shift_DelGT-p.1190_1191del
STADTCGA-BR-4279-01exon_skip_84896
62954271629548936295443262954433Frame_Shift_DelGT-p.V1190fs
LUADTCGA-50-5941-01exon_skip_84896
62954271629548936295458362954583Frame_Shift_DelG-p.W1241fs
LUADTCGA-50-5941-01exon_skip_84896
62954271629548936295458362954583Frame_Shift_DelG-p.W1242fs
COADTCGA-G4-6628-01exon_skip_84896
62954271629548936295467462954674Frame_Shift_DelT-p.P1271fs
STADTCGA-HU-A4GT-01exon_skip_84896
62954271629548936295432962954330Frame_Shift_Ins-Ap.S1156fs
STADTCGA-HU-A4GT-01exon_skip_84896
62954271629548936295433062954331Frame_Shift_Ins-Ap.S1156fs
KIRPTCGA-PJ-A5Z8-01exon_skip_84896
62954271629548936295434862954349Frame_Shift_Ins-Tp.L1163fs
LUSCTCGA-66-2771-01exon_skip_84884
62887695628878226288771562887715Nonsense_MutationGTp.E66*
STADTCGA-BR-8680-01exon_skip_84888
62902066629022606290207262902072Nonsense_MutationGTp.E266*
STADTCGA-BR-8680-01exon_skip_84888
62902066629022606290207262902072Nonsense_MutationGTp.E266X
UCECTCGA-D1-A16X-01exon_skip_84888
62902066629022606290207262902072Nonsense_MutationGTp.E266*
BLCATCGA-DK-A6B6-01exon_skip_84889
62931382629314866293148462931484Nonsense_MutationCTp.Q706*
HNSCTCGA-CN-6010-01exon_skip_84892
62938678629387886293868462938684Nonsense_MutationCTp.Q825*
HNSCTCGA-CN-6010-01exon_skip_84892
62938678629387886293868462938684Nonsense_MutationCTp.Q826*
READTCGA-AG-A011-01exon_skip_84892
62938678629387886293871462938714Nonsense_MutationGTp.G835X
LIHCTCGA-CC-A9FS-01exon_skip_84894
62946661629469546294691062946910Nonsense_MutationGTp.G1056X
UCECTCGA-BS-A0TC-01exon_skip_84908
62981854629819366298191062981910Nonsense_MutationCAp.S1655*
LUSCTCGA-66-2785-01exon_skip_84889
62931382629314866293138162931381Splice_SiteGTp.L672_splice
THYMTCGA-ZB-A96V-01exon_skip_84893
62943448629436106294344662943446Splice_SiteAT.
UCECTCGA-D1-A0ZQ-01exon_skip_84893
62943448629436106294344662943446Splice_SiteATe23-2
UCECTCGA-D1-A0ZQ-01exon_skip_84893
62943448629436106294344662943446Splice_SiteATp.G918_splice
STADTCGA-BR-8370-01exon_skip_84896
62954271629548936295426962954269Splice_SiteATp.G1137_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
MON2_62930930_62931043_62931381_62931486_62931875_62931956_TCGA-66-2785-01Sample: TCGA-66-2785-01
Cancer type: LUSC
ESID: exon_skip_84889
Skipped exon start: 62931382
Skipped exon end: 62931486
Mutation start: 62931381
Mutation end: 62931381
Mutation type: Splice_Site
Reference seq: G
Mutation seq: T
AAchange: p.L672_splice
exon_skip_84889_LUSC_TCGA-66-2785-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE62888796628889276288890862888908Missense_MutationATp.H139L
SW684_SOFT_TISSUE62902066629022606290219062902190Missense_MutationCTp.P305L
22RV1_PROSTATE62902066629022606290222662902226Missense_MutationTAp.V317E
NCIH1155_LUNG62936877629369786293689262936892Missense_MutationGAp.A794T
H4_CENTRAL_NERVOUS_SYSTEM62936877629369786293691362936913Missense_MutationAGp.T801A
CW2_LARGE_INTESTINE62936877629369786293693062936930Missense_MutationGAp.M806I
SKMEL30_SKIN62936877629369786293696762936967Missense_MutationCTp.H819Y
CW2_LARGE_INTESTINE62946661629469546294667462946674Missense_MutationATp.D977V
SNU1040_LARGE_INTESTINE62946661629469546294674562946745Missense_MutationGAp.A1001T
JHUEM7_ENDOMETRIUM62946661629469546294675262946752Missense_MutationAGp.E1003G
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE62946661629469546294675862946758Missense_MutationGTp.G1005V
JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE62946661629469546294679062946790Missense_MutationCTp.P1016S
ESS1_ENDOMETRIUM62946661629469546294689162946891Missense_MutationTAp.F1049L
NCIH510_LUNG62946661629469546294689562946895Missense_MutationATp.T1051S
SKES1_BONE62946661629469546294689862946898Missense_MutationATp.I1052F
SNU1_STOMACH62946661629469546294691162946911Missense_MutationGAp.G1056E
KATOIII_STOMACH62946661629469546294694062946940Missense_MutationACp.T1066P
NCIH820_LUNG62946661629469546294694462946944Missense_MutationTGp.V1067G
TTC549_SOFT_TISSUE62954271629548936295444762954447Missense_MutationCTp.P1196S
COV434_OVARY62954271629548936295452462954524Missense_MutationACp.R1221S
L33_PANCREAS62954271629548936295457262954572Missense_MutationGCp.L1237F
NCIH446_LUNG62954271629548936295458462954584Missense_MutationGTp.W1241C
LN235_CENTRAL_NERVOUS_SYSTEM62954271629548936295462762954627Missense_MutationAGp.K1256E
EWS502_BONE62954271629548936295470662954706Missense_MutationCGp.A1282G
KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE62954271629548936295485662954856Missense_MutationAGp.Q1332R
EN_ENDOMETRIUM62954271629548936295489162954891Missense_MutationACp.K1344Q
NCIH250_LUNG62965172629653626296523062965230Missense_MutationTCp.L1461P
CFPAC1_PANCREAS62965172629653626296525662965256Missense_MutationCGp.L1470V
SW48_LARGE_INTESTINE62965172629653626296528062965280Missense_MutationCTp.R1478W
HEC1_ENDOMETRIUM62965172629653626296528762965287Missense_MutationAGp.H1480R
CHP212_AUTONOMIC_GANGLIA62965172629653626296532962965329Missense_MutationCTp.A1494V
MDAMB361_BREAST62972225629722856297228362972283Missense_MutationGAp.E1525K
SNU1040_LARGE_INTESTINE62888796628889276288882862888828Nonsense_MutationGAp.W112*
HCC2998_LARGE_INTESTINE62902066629022606290207262902072Nonsense_MutationGTp.E266*
KM12_LARGE_INTESTINE62938678629387886293868462938684Nonsense_MutationCTp.Q825*
NCIH460_LUNG62888796628889276288879762888797Splice_SiteCGp.T102S
TEN_ENDOMETRIUM62972225629722856297222662972226Splice_SiteACp.I1506L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MON2

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 MON2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MON2


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RelatedDrugs for MON2

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 MON2

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