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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 ZCCHC4

check button Gene summary
Gene informationGene symbol

ZCCHC4

Gene ID

29063

Gene namezinc finger CCHC-type containing 4
SynonymsHSPC052|ZGRF4
Cytomap

4p15.2

Type of geneprotein-coding
Descriptionzinc finger CCHC domain-containing protein 4DHHC domain-containing zinc finger proteinzinc finger, CCHC domain containing 4zinc finger, GRF-type containing 4
Modification date20180329
UniProtAcc

Q9H5U6

ContextPubMed: ZCCHC4 [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 ZCCHC4 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 ZCCHC4

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 ZCCHC4

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_422825425314416:25314558:25315667:25315786:25316939:2531702225315667:25315786ENSG00000168228.10ENST00000302874.4,ENST00000507760.1
exon_skip_422826425335529:25335610:25347169:25347242:25351113:2535126425347169:25347242ENSG00000168228.10ENST00000505412.1,ENST00000505451.1,ENST00000302874.4
exon_skip_422830425351113:25351264:25353210:25353311:25363480:2536360225353210:25353311ENSG00000168228.10ENST00000505412.1,ENST00000302874.4
exon_skip_422834425366075:25366127:25366643:25366694:25370650:2537164825366643:25366694ENSG00000168228.10ENST00000505412.1
exon_skip_422837425366075:25366127:25366643:25366788:25370650:2537164825366643:25366788ENSG00000168228.10ENST00000302874.4

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

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Exon skipping events with PSIs in GTEx for ZCCHC4

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_422825425314416:25314558:25315667:25315786:25316939:2531702225315667:25315786ENSG00000168228.10ENST00000302874.4,ENST00000507760.1
exon_skip_422826425335529:25335610:25347169:25347242:25351113:2535126425347169:25347242ENSG00000168228.10ENST00000505451.1,ENST00000302874.4,ENST00000505412.1
exon_skip_422830425351113:25351264:25353210:25353311:25363480:2536360225353210:25353311ENSG00000168228.10ENST00000302874.4,ENST00000505412.1
exon_skip_422834425366075:25366127:25366643:25366694:25370650:2537164825366643:25366694ENSG00000168228.10ENST00000505412.1
exon_skip_422837425366075:25366127:25366643:25366788:25370650:2537164825366643:25366788ENSG00000168228.10ENST00000302874.4

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 ZCCHC4

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
ENST000003028742531566725315786Frame-shift
ENST000003028742534716925347242Frame-shift
ENST000003028742535321025353311Frame-shift
ENST000003028742536664325366788Frame-shift

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
ENST000003028742531566725315786Frame-shift
ENST000003028742534716925347242Frame-shift
ENST000003028742535321025353311Frame-shift
ENST000003028742536664325366788Frame-shift

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Infer the effects of exon skipping event on protein functional features for ZCCHC4

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 ZCCHC4

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.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_422825
25315668253157862531570325315703Frame_Shift_DelA-p.K55fs
KICHTCGA-KL-8342-01exon_skip_422830
25353211253533112535325425353254Frame_Shift_DelT-p.Y318fs
STADTCGA-BR-8059-01exon_skip_422830
25353211253533112535325425353254Frame_Shift_DelT-p.Y318fs
STADTCGA-CG-5726-01exon_skip_422830
25353211253533112535325425353254Frame_Shift_DelT-p.Y318fs
UCECTCGA-AP-A05N-01exon_skip_422830
25353211253533112535325425353254Frame_Shift_DelT-p.Y318fs
LIHCTCGA-DD-A39Y-01exon_skip_422837
25366644253667882536670225366702Frame_Shift_DelC-p.G440fs
STADTCGA-BR-8680-01exon_skip_422825
25315668253157862531570625315706Nonsense_MutationGTp.E56*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
PACADD137_PANCREAS25353211253533112535325425353254Frame_Shift_DelT-p.Y318fs
SNU324_PANCREAS25353211253533112535325425353254Frame_Shift_DelT-p.Y318fs
NUGC3_STOMACH25353211253533112535325425353254Frame_Shift_DelT-p.Y318fs
RL952_ENDOMETRIUM25353211253533112535325425353254Frame_Shift_DelT-p.Y318fs
CW2_LARGE_INTESTINE25353211253533112535327925353279Frame_Shift_DelT-p.F328fs
BICR18_UPPER_AERODIGESTIVE_TRACT25353211253533112535329525353296Frame_Shift_DelAG-p.Q332fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE25315668253157862531576125315762Frame_Shift_Ins-Tp.NF74fs
LS411N_LARGE_INTESTINE25353211253533112535325325353254Frame_Shift_Ins-Tp.YF318fs
HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE25353211253533112535327825353279Frame_Shift_Ins-Tp.F327fs
BICR18_UPPER_AERODIGESTIVE_TRACT25353211253533112535329325353294Frame_Shift_Ins-TGp.Q332fs
KPNYN_AUTONOMIC_GANGLIA25315668253157862531567625315676Missense_MutationCTp.L46F
HEC1A_ENDOMETRIUM25315668253157862531573125315731Missense_MutationGAp.C64Y
HEC1_ENDOMETRIUM25315668253157862531573125315731Missense_MutationGAp.C64Y
EN_ENDOMETRIUM25315668253157862531576125315761Missense_MutationATp.N74I
HEC108_ENDOMETRIUM25347170253472422534719825347198Missense_MutationTCp.F239L
MFE319_ENDOMETRIUM25347170253472422534721325347213Missense_MutationAGp.M244V
LS411N_LARGE_INTESTINE25353211253533112535324625353246Missense_MutationTCp.F316L
SEKI_SKIN25353211253533112535325225353252Missense_MutationTAp.Y318N
SNU1040_LARGE_INTESTINE25366644253666942536666525366665Missense_MutationGAp.C428Y
SNU1040_LARGE_INTESTINE25366644253667882536666525366665Missense_MutationGAp.C428Y
KMH2_THYROID25366644253666942536667925366679Missense_MutationGAp.V433I
KMH2_THYROID25366644253667882536667925366679Missense_MutationGAp.V433I
MZ2MEL_SKIN25366644253667882536670325366703Missense_MutationCGp.P441A
HCC1143_MATCHED_NORMAL_TISSUE25366644253667882536670325366703Missense_MutationCGp.P441A
NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE25366644253667882536673725366737Missense_MutationAGp.D452G
SNU1040_LARGE_INTESTINE25366644253667882536674625366746Missense_MutationGAp.R455H
KMRC2_KIDNEY25353211253533112535321125353211Splice_SiteAGp.D304G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZCCHC4

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 ZCCHC4


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZCCHC4


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RelatedDrugs for ZCCHC4

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 ZCCHC4

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