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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 ZSWIM5

check button Gene summary
Gene informationGene symbol

ZSWIM5

Gene ID

57643

Gene namezinc finger SWIM-type containing 5
Synonyms-
Cytomap

1p34.1

Type of geneprotein-coding
Descriptionzinc finger SWIM domain-containing protein 5zinc finger, SWIM domain containing 5
Modification date20180523
UniProtAcc

Q9P217

ContextPubMed: ZSWIM5 [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 ZSWIM5 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 ZSWIM5

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 ZSWIM5

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_26080145486296:45486460:45499983:45500141:45501359:4550149545499983:45500141ENSG00000162415.6ENST00000359600.5
exon_skip_26081145504607:45504745:45506063:45506210:45508890:4550906745506063:45506210ENSG00000162415.6ENST00000359600.5
exon_skip_26084145506063:45506210:45508890:45509067:45516745:4551692545508890:45509067ENSG00000162415.6ENST00000359600.5
exon_skip_26085145508890:45509067:45516745:45516925:45524280:4552443145516745:45516925ENSG00000162415.6ENST00000359600.5
exon_skip_26086145516745:45516925:45524280:45524431:45525770:4552591945524280:45524431ENSG00000162415.6ENST00000359600.5

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

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Exon skipping events with PSIs in GTEx for ZSWIM5

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_26080145486296:45486460:45499983:45500141:45501359:4550149545499983:45500141ENSG00000162415.6ENST00000359600.5
exon_skip_26081145504607:45504745:45506063:45506210:45508890:4550906745506063:45506210ENSG00000162415.6ENST00000359600.5
exon_skip_26084145506063:45506210:45508890:45509067:45516745:4551692545508890:45509067ENSG00000162415.6ENST00000359600.5
exon_skip_26085145508890:45509067:45516745:45516925:45524280:4552443145516745:45516925ENSG00000162415.6ENST00000359600.5
exon_skip_26086145516745:45516925:45524280:45524431:45525770:4552591945524280:45524431ENSG00000162415.6ENST00000359600.5

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 ZSWIM5

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
ENST000003596004549998345500141Frame-shift
ENST000003596004552428045524431Frame-shift
ENST000003596004550606345506210In-frame
ENST000003596004550889045509067In-frame
ENST000003596004551674545516925In-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
ENST000003596004549998345500141Frame-shift
ENST000003596004552428045524431Frame-shift
ENST000003596004550606345506210In-frame
ENST000003596004550889045509067In-frame
ENST000003596004551674545516925In-frame

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Infer the effects of exon skipping event on protein functional features for ZSWIM5

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
ENST0000035960058361185455167454551692514591638417477
ENST0000035960058361185455088904550906716391815477536
ENST0000035960058361185455060634550621018161962536585

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
ENST0000035960058361185455167454551692514591638417477
ENST0000035960058361185455088904550906716391815477536
ENST0000035960058361185455060634550621018161962536585

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
Q9P21741747711185ChainID=PRO_0000223103;Note=Zinc finger SWIM domain-containing protein 5
Q9P21747753611185ChainID=PRO_0000223103;Note=Zinc finger SWIM domain-containing protein 5
Q9P21753658511185ChainID=PRO_0000223103;Note=Zinc finger SWIM domain-containing protein 5


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
Q9P21741747711185ChainID=PRO_0000223103;Note=Zinc finger SWIM domain-containing protein 5
Q9P21747753611185ChainID=PRO_0000223103;Note=Zinc finger SWIM domain-containing protein 5
Q9P21753658511185ChainID=PRO_0000223103;Note=Zinc finger SWIM domain-containing protein 5


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SNVs in the skipped exons for ZSWIM5

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.
ZSWIM5_LUAD_exon_skip_26084_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_26085
45516746455169254551682145516821Frame_Shift_DelG-p.L453fs
STADTCGA-D7-8575-01exon_skip_26080
45499984455001414550000745500008Frame_Shift_Ins-Ap.S809fs
STADTCGA-D7-8575-01exon_skip_26080
45499984455001414550000845500009Frame_Shift_Ins-Ap.S809fs
LUADTCGA-91-6829-01exon_skip_26081
45506064455062104550607045506070Nonsense_MutationTAp.K584*
BLCATCGA-ZF-A9RF-01exon_skip_26084
45508891455090674550898445508984Nonsense_MutationGAp.R506*
SKCMTCGA-FR-A726-01exon_skip_26085
45516746455169254551691645516916Nonsense_MutationCTp.W421*
UCECTCGA-BK-A0C9-01exon_skip_26086
45524281455244314552429945524299Nonsense_MutationGAp.Q412*
SKCMTCGA-EE-A3AC-06exon_skip_26086
45524281455244314552442845524428Nonsense_MutationGAp.R369*
SKCMTCGA-EE-A3AC-06exon_skip_26086
45524281455244314552442845524428Nonsense_MutationGAp.R369X
LUADTCGA-05-4249-01exon_skip_26084
45508891455090674550889045508890Splice_SiteC-p.E537_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
ZSWIM5_45506063_45506210_45508890_45509067_45516745_45516925_TCGA-05-4249-01Sample: TCGA-05-4249-01
Cancer type: LUAD
ESID: exon_skip_26084
Skipped exon start: 45508891
Skipped exon end: 45509067
Mutation start: 45508890
Mutation end: 45508890
Mutation type: Splice_Site
Reference seq: C
Mutation seq: -
AAchange: p.E537_splice
exon_skip_26084_LUAD_TCGA-05-4249-01.png
boxplot
exon_skip_347230_LUAD_TCGA-05-4249-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
COV362_OVARY45499984455001414550007045500070Missense_MutationGAp.P788L
ISTSL1_LUNG45499984455001414550009445500094Missense_MutationGAp.P780L
LNCAPCLONEFGC_PROSTATE45499984455001414550011245500112Missense_MutationGAp.A774V
AN3CA_ENDOMETRIUM45499984455001414550011345500113Missense_MutationCTp.A774T
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE45506064455062104550609745506097Missense_MutationGAp.R575W
LS180_LARGE_INTESTINE45506064455062104550614845506148Missense_MutationCTp.A558T
NCIH1155_LUNG45516746455169254551675145516751Missense_MutationCTp.S476N
MEWO_SKIN45516746455169254551680245516802Missense_MutationCTp.G459E
SNU1_STOMACH45516746455169254551683345516833Missense_MutationCTp.D449N
SNUC4_LARGE_INTESTINE45516746455169254551691045516910Missense_MutationCTp.C423Y
HCC1395_BREAST45524281455244314552434745524347Missense_MutationGAp.L396F
HCC44_LUNG45524281455244314552439745524397Missense_MutationCGp.G379A
MHHES1_BONE45516746455169254551674645516746Splice_SiteCAp.D478Y

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZSWIM5

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 ZSWIM5


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZSWIM5


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RelatedDrugs for ZSWIM5

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 ZSWIM5

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