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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 ZHX2

check button Gene summary
Gene informationGene symbol

ZHX2

Gene ID

22882

Gene namezinc fingers and homeoboxes 2
SynonymsAFR1|RAF
Cytomap

8q24.13

Type of geneprotein-coding
Descriptionzinc fingers and homeoboxes protein 2AFP regulator 1alpha-fetoprotein regulator 1regulator of AFPtranscription factor ZHX2zinc finger and homeodomain protein 2
Modification date20180523
UniProtAcc

Q9Y6X8

ContextPubMed: ZHX2 [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
ZHX2

GO:0000122

negative regulation of transcription by RNA polymerase II

12741956

ZHX2

GO:0045892

negative regulation of transcription, DNA-templated

12741956


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Exon skipping events across known transcript of Ensembl for ZHX2 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 ZHX2

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 ZHX2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4858438123875715:123875778:123963531:123966268:123985481:123986750123963531:123966268ENSG00000178764.6ENST00000314393.4

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

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Exon skipping events with PSIs in GTEx for ZHX2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4858438123875715:123875778:123963531:123966268:123985481:123986750123963531:123966268ENSG00000178764.6ENST00000314393.4

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 ZHX2

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
ENST000003143931239635311239662683UTR-5UTR

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
ENST000003143931239635311239662683UTR-5UTR

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Infer the effects of exon skipping event on protein functional features for ZHX2

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 ZHX2

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-DD-A3A0-01exon_skip_485843
123963532123966268123964530123964530Frame_Shift_DelC-p.V260fs
SARCTCGA-DX-A7EQ-01exon_skip_485843
123963532123966268123964551123964551Frame_Shift_DelC-p.Y267fs
LIHCTCGA-G3-A3CJ-01exon_skip_485843
123963532123966268123964795123964795Frame_Shift_DelC-p.P349fs
LIHCTCGA-DD-A1EG-01exon_skip_485843
123963532123966268123964808123964808Frame_Shift_DelC-p.A353fs
STADTCGA-CG-5721-01exon_skip_485843
123963532123966268123965055123965055Frame_Shift_DelC-p.N435fs
LGGTCGA-DU-7300-01exon_skip_485843
123963532123966268123965332123965333Frame_Shift_DelTT-p.F528fs
LIHCTCGA-DD-A39Y-01exon_skip_485843
123963532123966268123965336123965336Frame_Shift_DelC-p.A529fs
LIHCTCGA-DD-A1EG-01exon_skip_485843
123963532123966268123965406123965406Frame_Shift_DelT-p.S552fs
COADTCGA-AA-3663-01exon_skip_485843
123963532123966268123965800123965800Frame_Shift_DelA-p.L683fs
LIHCTCGA-DD-A39Y-01exon_skip_485843
123963532123966268123965917123965917Frame_Shift_DelG-p.G724fs
COADTCGA-A6-5661-01exon_skip_485843
123963532123966268123965953123965953Frame_Shift_DelA-p.P734fs
COADTCGA-AA-A00A-01exon_skip_485843
123963532123966268123963963123963964Frame_Shift_Ins-Ap.S71fs
LUADTCGA-17-Z027-01exon_skip_485843
123963532123966268123965335123965336Frame_Shift_Ins-Cp.P529fs
UCECTCGA-B5-A0K9-01exon_skip_485843
123963532123966268123965335123965336Frame_Shift_Ins-Cp.A529fs
STADTCGA-BR-6802-01exon_skip_485843
123963532123966268123965544123965545Frame_Shift_Ins-Ap.G598fs
UCECTCGA-B5-A0JZ-01exon_skip_485843
123963532123966268123965544123965545Frame_Shift_Ins-Ap.G598fs
STADTCGA-BR-6802-01exon_skip_485843
123963532123966268123965545123965546Frame_Shift_Ins-Ap.G598fs
LIHCTCGA-BC-A112-01exon_skip_485843
123963532123966268123966089123966090Frame_Shift_Ins-Gp.R780fs
LUADTCGA-78-7220-01exon_skip_485843
123963532123966268123964312123964312Nonsense_MutationATp.K188*
BLCATCGA-2F-A9KT-01exon_skip_485843
123963532123966268123965512123965512Nonsense_MutationGTp.E588*
SKCMTCGA-EE-A2MR-06exon_skip_485843
123963532123966268123965554123965554Nonsense_MutationCTp.Q602*
SKCMTCGA-IH-A3EA-01exon_skip_485843
123963532123966268123965716123965716Nonsense_MutationCTp.Q656*
SKCMTCGA-IH-A3EA-01exon_skip_485843
123963532123966268123965716123965716Nonsense_MutationCTp.Q656X

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
HCT116_LARGE_INTESTINE123963532123966268123965055123965055Frame_Shift_DelC-p.N435fs
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123965336123965336Frame_Shift_DelC-p.A529fs
KELLY_AUTONOMIC_GANGLIA123963532123966268123963963123963964Frame_Shift_Ins-Ap.K72fs
WM1799_SKIN123963532123966268123963963123963964Frame_Shift_Ins-Ap.K72fs
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123966017123966018Frame_Shift_Ins-Ap.AK756fs
MDAMB453_BREAST123963532123966268123964337123964348In_Frame_DelCCAAGAAGGTGC-p.KKVP197del
SNUC5_LARGE_INTESTINE123963532123966268123964740123964742In_Frame_DelGAA-p.K332del
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123963786123963786Missense_MutationGAp.M12I
HEC1B_ENDOMETRIUM123963532123966268123963836123963836Missense_MutationGTp.R29M
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123963857123963857Missense_MutationGAp.G36D
CW2_LARGE_INTESTINE123963532123966268123963874123963874Missense_MutationGAp.V42M
T47D_BREAST123963532123966268123963874123963874Missense_MutationGAp.V42M
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123963911123963911Missense_MutationCGp.S54C
MZ7B_MATCHED_NORMAL_TISSUE123963532123966268123963937123963937Missense_MutationGTp.V63L
MZ7MEL_SKIN123963532123966268123963937123963937Missense_MutationGTp.V63L
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123964016123964016Missense_MutationAGp.N89S
PK1_PANCREAS123963532123966268123964060123964060Missense_MutationGAp.V104M
NB6_AUTONOMIC_GANGLIA123963532123966268123964098123964098Missense_MutationCGp.N116K
SNU81_LARGE_INTESTINE123963532123966268123964115123964115Missense_MutationAGp.Y122C
GP5D_LARGE_INTESTINE123963532123966268123964135123964135Missense_MutationAGp.N129D
MZ7MEL_SKIN123963532123966268123964156123964156Missense_MutationGAp.E136K
GIMEN_AUTONOMIC_GANGLIA123963532123966268123964195123964195Missense_MutationCAp.Q149K
SNUC5_LARGE_INTESTINE123963532123966268123964219123964219Missense_MutationGAp.E157K
CJM_SKIN123963532123966268123964237123964237Missense_MutationGAp.V163M
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123964249123964249Missense_MutationAGp.T167A
LNCAPCLONEFGC_PROSTATE123963532123966268123964249123964249Missense_MutationAGp.T167A
JHU011_UPPER_AERODIGESTIVE_TRACT123963532123966268123964255123964255Missense_MutationGAp.G169S
RKO_LARGE_INTESTINE123963532123966268123964430123964430Missense_MutationCTp.S227L
GP2D_LARGE_INTESTINE123963532123966268123964552123964552Missense_MutationATp.N268Y
GP5D_LARGE_INTESTINE123963532123966268123964552123964552Missense_MutationATp.N268Y
NCIH23_LUNG123963532123966268123964564123964564Missense_MutationGTp.D272Y
SARC9371_BONE123963532123966268123964603123964603Missense_MutationCTp.P285S
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123964734123964734Missense_MutationGTp.E328D
ZR751_BREAST123963532123966268123964841123964841Missense_MutationCTp.T364M
YMB1E_BREAST123963532123966268123964841123964841Missense_MutationCTp.T364M
NCIH1651_LUNG123963532123966268123964857123964857Missense_MutationGCp.Q369H
HEC6_ENDOMETRIUM123963532123966268123964885123964885Missense_MutationAGp.T379A
NCIH820_LUNG123963532123966268123964901123964901Missense_MutationGTp.G384V
HCT15_LARGE_INTESTINE123963532123966268123964990123964990Missense_MutationGTp.A414S
MFE319_ENDOMETRIUM123963532123966268123964990123964990Missense_MutationGTp.A414S
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123965009123965009Missense_MutationGAp.R420H
SNUC5_LARGE_INTESTINE123963532123966268123965152123965152Missense_MutationGAp.E468K
L33_PANCREAS123963532123966268123965174123965174Missense_MutationTCp.V475A
LC1F_LUNG123963532123966268123965240123965240Missense_MutationGAp.G497D
LC1SQSF_LUNG123963532123966268123965240123965240Missense_MutationGAp.G497D
LC1SQ_LUNG123963532123966268123965240123965240Missense_MutationGAp.G497D
HEC1_ENDOMETRIUM123963532123966268123965246123965246Missense_MutationTCp.V499A
HSC1_SKIN123963532123966268123965284123965284Missense_MutationGAp.A512T
SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123965309123965309Missense_MutationGAp.R520H
SNU1040_LARGE_INTESTINE123963532123966268123965312123965312Missense_MutationCTp.T521M
HARA_LUNG123963532123966268123965314123965314Missense_MutationTAp.Y522N
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123965359123965359Missense_MutationAGp.T537A
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123965388123965388Missense_MutationCAp.D546E
PACADD161_PANCREAS123963532123966268123965624123965624Missense_MutationCAp.S625Y
HEC251_ENDOMETRIUM123963532123966268123965638123965638Missense_MutationTCp.S630P
HEC6_ENDOMETRIUM123963532123966268123965687123965687Missense_MutationCTp.T646M
LS411N_LARGE_INTESTINE123963532123966268123965687123965687Missense_MutationCTp.T646M
COLO741_SKIN123963532123966268123965734123965734Missense_MutationGAp.A662T
MKN74_STOMACH123963532123966268123965782123965782Missense_MutationGAp.E678K
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123965917123965917Missense_MutationGAp.G723R
COGN278_AUTONOMIC_GANGLIA123963532123966268123965923123965923Missense_MutationGAp.D725N
MEWO_SKIN123963532123966268123965932123965932Missense_MutationCTp.P728S
SAS_UPPER_AERODIGESTIVE_TRACT123963532123966268123965955123965955Missense_MutationATp.K735N
UACC257_SKIN123963532123966268123965963123965963Missense_MutationGAp.C738Y
SNU81_LARGE_INTESTINE123963532123966268123965965123965965Missense_MutationGAp.E739K
LN382_CENTRAL_NERVOUS_SYSTEM123963532123966268123965986123965986Missense_MutationGTp.V746L
LN229_CENTRAL_NERVOUS_SYSTEM123963532123966268123966071123966071Missense_MutationGAp.G774D
HEC1_ENDOMETRIUM123963532123966268123966153123966153Missense_MutationGTp.E801D
NCIH1304_LUNG123963532123966268123966154123966154Missense_MutationGTp.D802Y
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123963532123966268123966254123966254Missense_MutationGAp.G835D
NB69_AUTONOMIC_GANGLIA123963532123966268123964420123964420Nonsense_MutationGTp.E224*
RL952_ENDOMETRIUM123963532123966268123965098123965098Nonsense_MutationCTp.Q450*
TT_THYROID123963532123966268123965341123965341Nonsense_MutationCTp.Q531*
HEC251_ENDOMETRIUM123963532123966268123965500123965500Nonsense_MutationCTp.R584*
JHUEM7_ENDOMETRIUM123963532123966268123965500123965500Nonsense_MutationCTp.R584*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZHX2

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 ZHX2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZHX2


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RelatedDrugs for ZHX2

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 ZHX2

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