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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 DLG5

check button Gene summary
Gene informationGene symbol

DLG5

Gene ID

9231

Gene namediscs large MAGUK scaffold protein 5
SynonymsLP-DLG|P-DLG5|PDLG
Cytomap

10q22.3

Type of geneprotein-coding
Descriptiondisks large homolog 5discs large protein LP-DLGdiscs large protein P-dlgdiscs, large homolog 5large type of P-DLGplacenta and prostate DLG
Modification date20180519
UniProtAcc

Q8TDM6

ContextPubMed: DLG5 [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 DLG5 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 DLG5

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 DLG5

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_513571079553776:79553875:79554606:79554716:79555818:7955594679554606:79554716ENSG00000151208.12ENST00000475613.2,ENST00000372388.2,ENST00000424842.1,ENST00000372391.2,ENST00000463362.1,ENST00000459739.1
exon_skip_513581079556208:79556352:79565422:79565619:79566515:7956668679565422:79565619ENSG00000151208.12ENST00000475613.2,ENST00000372388.2,ENST00000424842.1,ENST00000372391.2,ENST00000463362.1,ENST00000459739.1
exon_skip_513661079569304:79569488:79570851:79570992:79571681:7957181579570851:79570992ENSG00000151208.12ENST00000475613.2,ENST00000372388.2,ENST00000424842.1,ENST00000489547.1,ENST00000372391.2,ENST00000463362.1,ENST00000459739.1,ENST00000468332.2
exon_skip_513761079579078:79579223:79579652:79579776:79580839:7958129679579652:79579776ENSG00000151208.12ENST00000372391.2,ENST00000459739.1,ENST00000468332.2
exon_skip_513851079579652:79579776:79580839:79581859:79584141:7958423479580839:79581859ENSG00000151208.12ENST00000372391.2,ENST00000468332.2
exon_skip_513871079579652:79579776:79584141:79584234:79588639:7958874379584141:79584234ENSG00000151208.12ENST00000372388.2,ENST00000424842.1
exon_skip_513881079581539:79581859:79584141:79584234:79588639:7958874379584141:79584234ENSG00000151208.12ENST00000475613.2,ENST00000372391.2,ENST00000468332.2
exon_skip_513901079584141:79584234:79588639:79588743:79589112:7958920079588639:79588743ENSG00000151208.12ENST00000475613.2,ENST00000372388.2,ENST00000372391.2,ENST00000468332.2
exon_skip_513931079588639:79588743:79589112:79589288:79589974:7959010279589112:79589288ENSG00000151208.12ENST00000475613.2,ENST00000372388.2,ENST00000372391.2,ENST00000468332.2
exon_skip_513961079603360:79603464:79604968:79605195:79613111:7961329579604968:79605195ENSG00000151208.12ENST00000468332.2
exon_skip_514041079613111:79613295:79613984:79614128:79616487:7961665079613984:79614128ENSG00000151208.12ENST00000372388.2,ENST00000372391.2,ENST00000468332.2
exon_skip_514061079616487:79616650:79628886:79628955:79685974:7968628479628886:79628955ENSG00000151208.12ENST00000372388.2,ENST00000372391.2

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

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Exon skipping events with PSIs in GTEx for DLG5

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_513571079553776:79553875:79554606:79554716:79555818:7955594679554606:79554716ENSG00000151208.12ENST00000424842.1,ENST00000475613.2,ENST00000372391.2,ENST00000372388.2,ENST00000463362.1,ENST00000459739.1
exon_skip_513581079556208:79556352:79565422:79565619:79566515:7956668679565422:79565619ENSG00000151208.12ENST00000424842.1,ENST00000475613.2,ENST00000372391.2,ENST00000372388.2,ENST00000463362.1,ENST00000459739.1
exon_skip_513591079556208:79556352:79565422:79565686:79566515:7956668679565422:79565686ENSG00000151208.12ENST00000468332.2
exon_skip_513661079569304:79569488:79570851:79570992:79571681:7957181579570851:79570992ENSG00000151208.12ENST00000424842.1,ENST00000475613.2,ENST00000372391.2,ENST00000372388.2,ENST00000463362.1,ENST00000459739.1,ENST00000468332.2,ENST00000489547.1
exon_skip_513761079579078:79579223:79579652:79579776:79580839:7958129679579652:79579776ENSG00000151208.12ENST00000372391.2,ENST00000459739.1,ENST00000468332.2
exon_skip_513851079579652:79579776:79580839:79581859:79584141:7958423479580839:79581859ENSG00000151208.12ENST00000372391.2,ENST00000468332.2
exon_skip_513881079581539:79581859:79584141:79584234:79588639:7958874379584141:79584234ENSG00000151208.12ENST00000475613.2,ENST00000372391.2,ENST00000468332.2
exon_skip_513901079584141:79584234:79588639:79588743:79589112:7958920079588639:79588743ENSG00000151208.12ENST00000475613.2,ENST00000372391.2,ENST00000372388.2,ENST00000468332.2
exon_skip_513931079588639:79588743:79589112:79589288:79589974:7959010279589112:79589288ENSG00000151208.12ENST00000475613.2,ENST00000372391.2,ENST00000372388.2,ENST00000468332.2
exon_skip_513961079603360:79603464:79604968:79605195:79613111:7961329579604968:79605195ENSG00000151208.12ENST00000468332.2
exon_skip_514041079613111:79613295:79613984:79614128:79616487:7961665079613984:79614128ENSG00000151208.12ENST00000372391.2,ENST00000372388.2,ENST00000468332.2
exon_skip_514061079616487:79616650:79628886:79628955:79685974:7968628479628886:79628955ENSG00000151208.12ENST00000372391.2,ENST00000372388.2

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 DLG5

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

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

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Infer the effects of exon skipping event on protein functional features for DLG5

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

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

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 DLG5

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.
DLG5_COAD_exon_skip_51385_psi_boxplot.png
boxplot
DLG5_GBM_exon_skip_51385_psi_boxplot.png
boxplot
DLG5_LIHC_exon_skip_51385_psi_boxplot.png
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DLG5_STAD_exon_skip_51385_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_51358
79565423795656197956549979565499Frame_Shift_DelT-p.K1696fs
LIHCTCGA-DD-A39Y-01exon_skip_51358
79565423795656197956552079565520Frame_Shift_DelA-p.F1689fs
UCECTCGA-D1-A17U-01exon_skip_51358
79565423795656197956552079565520Frame_Shift_DelA-p.F1689fs
LIHCTCGA-DD-A1EG-01exon_skip_51385
79580840795818597958099279580992Frame_Shift_DelC-p.D1084fs
COADTCGA-CK-5916-01exon_skip_51385
79580840795818597958166079581660Frame_Shift_DelG-p.P861fs
LIHCTCGA-DD-A3A0-01exon_skip_51385
79580840795818597958166079581660Frame_Shift_DelG-p.P861fs
LIHCTCGA-DD-A3A0-01exon_skip_51393
79589113795892887958919779589197Frame_Shift_DelC-p.A701fs
LIHCTCGA-DD-A3A0-01exon_skip_51393
79589113795892887958920379589203Frame_Shift_DelC-p.E699fs
DLBCTCGA-FA-A4XK-01exon_skip_51358
79565423795656197956551979565520Frame_Shift_Ins-Ap.R1690fs
STADTCGA-BR-8372-01exon_skip_51366
79570852795709927957087279570873Frame_Shift_Ins-GGp.P1481fs
STADTCGA-HU-8602-01exon_skip_51385
79580840795818597958128379581284Frame_Shift_Ins-Gp.K987fs
STADTCGA-HU-8602-01exon_skip_51385
79580840795818597958128479581285Frame_Shift_Ins-Gp.P986fs
BLCATCGA-G2-AA3B-01exon_skip_51358
79565423795656197956554579565545Nonsense_MutationGTp.S1681*
BLCATCGA-XF-A9SI-01exon_skip_51385
79580840795818597958114179581141Nonsense_MutationGCp.S1034*
ACCTCGA-PK-A5HB-01exon_skip_51385
79580840795818597958140179581401Nonsense_MutationCTp.W947*
ACCTCGA-PK-A5HB-01exon_skip_51385
79580840795818597958140179581401Nonsense_MutationCTp.W947X
LUADTCGA-55-8506-01exon_skip_51388
exon_skip_51387
79584142795842347958414479584144Nonsense_MutationTAp.K794*
GBMTCGA-06-2567-01exon_skip_51385
79580840795818597958186079581860Splice_SiteCGp.V795_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
DLG5_79579652_79579776_79580839_79581859_79584141_79584234_TCGA-06-2567-01Sample: TCGA-06-2567-01
Cancer type: GBM
ESID: exon_skip_51385
Skipped exon start: 79580840
Skipped exon end: 79581859
Mutation start: 79581860
Mutation end: 79581860
Mutation type: Splice_Site
Reference seq: C
Mutation seq: G
AAchange: p.V795_splice
exon_skip_51385_GBM_TCGA-06-2567-01.png
boxplot
DLG5_79579652_79579776_79580839_79581859_79584141_79584234_TCGA-CK-5916-01Sample: TCGA-CK-5916-01
Cancer type: COAD
ESID: exon_skip_51385
Skipped exon start: 79580840
Skipped exon end: 79581859
Mutation start: 79581660
Mutation end: 79581660
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.P861fs
exon_skip_307669_COAD_TCGA-CK-5916-01.png
boxplot
exon_skip_339350_COAD_TCGA-CK-5916-01.png
boxplot
exon_skip_339352_COAD_TCGA-CK-5916-01.png
boxplot
exon_skip_377604_COAD_TCGA-CK-5916-01.png
boxplot
exon_skip_470072_COAD_TCGA-CK-5916-01.png
boxplot
exon_skip_503611_COAD_TCGA-CK-5916-01.png
boxplot
exon_skip_51385_COAD_TCGA-CK-5916-01.png
boxplot
DLG5_79579652_79579776_79580839_79581859_79584141_79584234_TCGA-HU-8602-01Sample: TCGA-HU-8602-01
Cancer type: STAD
ESID: exon_skip_51385
Skipped exon start: 79580840
Skipped exon end: 79581859
Mutation start: 79581283
Mutation end: 79581284
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.K987fs
DLG5_79579652_79579776_79580839_79581859_79584141_79584234_TCGA-HU-8602-01Sample: TCGA-HU-8602-01
Cancer type: STAD
ESID: exon_skip_51385
Skipped exon start: 79580840
Skipped exon end: 79581859
Mutation start: 79581284
Mutation end: 79581285
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.P986fs
exon_skip_110606_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_12723_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_12741_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_129202_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_142361_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_17013_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_28391_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_328529_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_35193_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_364609_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_3733_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_3734_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_424540_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_443675_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_466134_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_475115_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_482067_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_489785_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_489794_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_493826_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_493827_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_51385_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_81726_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_84502_STAD_TCGA-HU-8602-01.png
boxplot
exon_skip_96034_STAD_TCGA-HU-8602-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
COLO684_ENDOMETRIUM79579653795797767957967979579679Frame_Shift_DelG-p.P1167fs
SNU410_PANCREAS79589113795892887958919779589197Frame_Shift_DelC-p.A701fs
MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79565423795656197956551979565520Frame_Shift_Ins-Ap.R1690fs
FTC133_THYROID79554607795547167955462079554620Missense_MutationCTp.A1845T
BICR18_UPPER_AERODIGESTIVE_TRACT79554607795547167955463179554631Missense_MutationTCp.H1841R
OELE_OVARY79565423795656197956546579565465Missense_MutationCTp.A1708T
SKRC20_KIDNEY79565423795656197956547379565473Missense_MutationTCp.D1705G
HEC108_ENDOMETRIUM79565423795656197956547379565473Missense_MutationTCp.D1705G
MM415_SKIN79565423795656197956551979565519Missense_MutationGAp.R1690W
SNU719_STOMACH79565423795656197956552379565523Missense_MutationACp.F1688L
NCIH2087_LUNG79565423795656197956559179565591Missense_MutationTCp.S1666G
NCIH2291_LUNG79565423795656197956560279565602Missense_MutationGCp.S1662C
NCIH2342_LUNG79565423795656197956561479565614Missense_MutationTAp.D1658V
TE617T_SOFT_TISSUE79570852795709927957087479570874Missense_MutationGCp.P1481A
FADU_UPPER_AERODIGESTIVE_TRACT79570852795709927957087779570877Missense_MutationGAp.P1480S
EN_ENDOMETRIUM79570852795709927957091879570918Missense_MutationAGp.V1466A
SNU81_LARGE_INTESTINE79570852795709927957096179570961Missense_MutationTGp.T1452P
HEC151_ENDOMETRIUM79579653795797767957966179579661Missense_MutationGTp.P1173Q
HS821T_FIBROBLAST79579653795797767957966179579661Missense_MutationGAp.P1173L
SNU1040_LARGE_INTESTINE79580840795818597958091079580910Missense_MutationCTp.R1111H
NCIH2172_LUNG79580840795818597958093579580935Missense_MutationCTp.V1103M
COLO792_SKIN79580840795818597958098479580985Missense_MutationGGAAp.S1086F
COLO792_SKIN79580840795818597958098579580985Missense_MutationGAp.S1086F
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79580840795818597958101879581019Missense_MutationGAAGp.S1075L
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79580840795818597958101879581018Missense_MutationGAp.S1075F
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79580840795818597958101979581019Missense_MutationAGp.S1075P
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79580840795818597958110479581104Missense_MutationATp.S1046R
SW684_SOFT_TISSUE79580840795818597958119679581196Missense_MutationGAp.P1016S
HEC1A_ENDOMETRIUM79580840795818597958131579581315Missense_MutationGTp.P976H
NCIH2110_LUNG79580840795818597958132579581325Missense_MutationTGp.I973L
HCC2998_LARGE_INTESTINE79580840795818597958133379581333Missense_MutationCAp.R970I
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79580840795818597958139079581390Missense_MutationAGp.M951T
201T_LUNG79580840795818597958139779581397Missense_MutationTGp.K949Q
BB30PBL_MATCHED_NORMAL_TISSUE79580840795818597958139779581397Missense_MutationTGp.K949Q
DSH1_URINARY_TRACT79580840795818597958139779581397Missense_MutationTGp.K949Q
G402_SOFT_TISSUE79580840795818597958139779581397Missense_MutationTGp.K949Q
LOUCY_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79580840795818597958139779581397Missense_MutationTGp.K949Q
MFE280_ENDOMETRIUM79580840795818597958139779581397Missense_MutationTGp.K949Q
MZ1PC_PANCREAS79580840795818597958139779581397Missense_MutationTGp.K949Q
NCIH838_LUNG79580840795818597958139779581397Missense_MutationTGp.K949Q
OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79580840795818597958139779581397Missense_MutationTGp.K949Q
S117_SOFT_TISSUE79580840795818597958139779581397Missense_MutationTGp.K949Q
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79580840795818597958139779581397Missense_MutationTGp.K949Q
PATU8902_PANCREAS79580840795818597958140379581403Missense_MutationAGp.W947R
ECC10_STOMACH79580840795818597958140979581409Missense_MutationCTp.G945R
C33A_CERVIX79580840795818597958154879581548Missense_MutationATp.D898E
HEC59_ENDOMETRIUM79580840795818597958160379581603Missense_MutationCTp.C880Y
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79580840795818597958161179581611Missense_MutationCAp.L877F
HCC515_LUNG79580840795818597958169679581696Missense_MutationGAp.T849M
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79580840795818597958170479581704Missense_MutationGCp.I846M
639V_URINARY_TRACT79580840795818597958182479581824Missense_MutationGCp.N806K
LCLC103H_LUNG79584142795842347958421179584211Missense_MutationGCp.N771K
HEC6_ENDOMETRIUM79589113795892887958914279589142Missense_MutationGAp.P719L
OE19_OESOPHAGUS79589113795892887958917879589178Missense_MutationCAp.R707L
SW48_LARGE_INTESTINE79589113795892887958920079589200Missense_MutationCTp.G700R
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79589113795892887958921779589217Missense_MutationGAp.A694V
K5_THYROID79613985796141287961403179614031Missense_MutationCTp.A212T
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79613985796141287961410879614108Missense_MutationGTp.P186H
TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79588640795887437958872679588726Nonsense_MutationCAp.E735*
CALU3_LUNG79589113795892887958923379589233Nonsense_MutationTAp.K689*
BICR18_UPPER_AERODIGESTIVE_TRACT79628887796289557962895479628954Splice_SiteACp.G102G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DLG5

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 DLG5


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DLG5


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RelatedDrugs for DLG5

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 DLG5

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