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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 UBXN7

check button Gene summary
Gene informationGene symbol

UBXN7

Gene ID

26043

Gene nameUBX domain protein 7
SynonymsUBXD7
Cytomap

3q29

Type of geneprotein-coding
DescriptionUBX domain-containing protein 7UBX domain containing 7
Modification date20180519
UniProtAcc

O94888

ContextPubMed: UBXN7 [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 UBXN7 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 UBXN7

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 UBXN7

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4206563196083507:196083717:196088714:196088794:196089164:196089415196088714:196088794ENSG00000163960.7ENST00000535858.1,ENST00000429160.1,ENST00000296328.4,ENST00000428095.1
exon_skip_4206573196089164:196089558:196094898:196095026:196096291:196096382196094898:196095026ENSG00000163960.7ENST00000535858.1,ENST00000429160.1,ENST00000296328.4,ENST00000428095.1
exon_skip_4206603196094898:196095026:196096291:196096382:196098766:196098913196096291:196096382ENSG00000163960.7ENST00000535858.1,ENST00000429160.1,ENST00000296328.4,ENST00000428095.1
exon_skip_4206613196096291:196096382:196098766:196098913:196118683:196118796196098766:196098913ENSG00000163960.7ENST00000535858.1,ENST00000429160.1,ENST00000296328.4
exon_skip_4206633196118708:196118796:196120424:196120490:196129822:196129890196120424:196120490ENSG00000163960.7ENST00000535858.1,ENST00000429160.1,ENST00000296328.4
exon_skip_4206663196120451:196120490:196129822:196129890:196134116:196134264196129822:196129890ENSG00000163960.7ENST00000413584.1,ENST00000296328.4
exon_skip_4206673196120451:196120490:196129822:196129890:196159197:196159268196129822:196129890ENSG00000163960.7ENST00000535858.1,ENST00000429160.1
exon_skip_4206693196129822:196129890:196134116:196134264:196159197:196159268196134116:196134264ENSG00000163960.7ENST00000381887.3,ENST00000493566.1

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

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Exon skipping events with PSIs in GTEx for UBXN7

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4206563196083507:196083717:196088714:196088794:196089164:196089415196088714:196088794ENSG00000163960.7ENST00000296328.4,ENST00000429160.1,ENST00000428095.1,ENST00000535858.1
exon_skip_4206573196089164:196089558:196094898:196095026:196096291:196096382196094898:196095026ENSG00000163960.7ENST00000296328.4,ENST00000429160.1,ENST00000428095.1,ENST00000535858.1
exon_skip_4206603196094898:196095026:196096291:196096382:196098766:196098913196096291:196096382ENSG00000163960.7ENST00000296328.4,ENST00000429160.1,ENST00000428095.1,ENST00000535858.1
exon_skip_4206633196118708:196118796:196120424:196120490:196129822:196129890196120424:196120490ENSG00000163960.7ENST00000296328.4,ENST00000429160.1,ENST00000535858.1
exon_skip_4206663196120451:196120490:196129822:196129890:196134116:196134264196129822:196129890ENSG00000163960.7ENST00000296328.4,ENST00000413584.1
exon_skip_4206673196120451:196120490:196129822:196129890:196159197:196159268196129822:196129890ENSG00000163960.7ENST00000429160.1,ENST00000535858.1
exon_skip_4206693196129822:196129890:196134116:196134264:196159197:196159268196134116:196134264ENSG00000163960.7ENST00000381887.3,ENST00000493566.1

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 UBXN7

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
ENST00000296328196088714196088794Frame-shift
ENST00000296328196094898196095026Frame-shift
ENST00000296328196096291196096382Frame-shift
ENST00000296328196129822196129890Frame-shift
ENST00000296328196098766196098913In-frame
ENST00000296328196120424196120490In-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
ENST00000296328196088714196088794Frame-shift
ENST00000296328196094898196095026Frame-shift
ENST00000296328196096291196096382Frame-shift
ENST00000296328196129822196129890Frame-shift
ENST00000296328196120424196120490In-frame

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Infer the effects of exon skipping event on protein functional features for UBXN7

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
ENST000002963281058548919612042419612049036543096118
ENST0000029632810585489196098766196098913544690156205

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
ENST000002963281058548919612042419612049036543096118

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
O94888961182489ChainID=PRO_0000211035;Note=UBX domain-containing protein 7
O94888961189999Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
O94888156205167173Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DLX
O94888156205201210Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DLX
O948881562052489ChainID=PRO_0000211035;Note=UBX domain-containing protein 7
O94888156205154164HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DLX
O94888156205180186HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DLX
O94888156205191199HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DLX
O94888156205177179TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DLX
O94888156205187189TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DLX


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
O94888961182489ChainID=PRO_0000211035;Note=UBX domain-containing protein 7
O94888961189999Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)


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SNVs in the skipped exons for UBXN7

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
HNSCTCGA-F7-A624-01exon_skip_420656
196088715196088794196088753196088753Frame_Shift_DelT-p.R424fs
LIHCTCGA-DD-A39Y-01exon_skip_420656
196088715196088794196088753196088753Frame_Shift_DelT-p.R424fs
LIHCTCGA-DD-A3A0-01exon_skip_420656
196088715196088794196088753196088753Frame_Shift_DelT-p.R424fs
LIHCTCGA-G3-A3CJ-01exon_skip_420656
196088715196088794196088753196088753Frame_Shift_DelT-p.R424fs
LIHCTCGA-DD-A1EG-01exon_skip_420657
196094899196095026196094917196094917Frame_Shift_DelG-p.P272fs
LIHCTCGA-DD-A39Y-01exon_skip_420657
196094899196095026196094917196094917Frame_Shift_DelG-p.P272fs
LIHCTCGA-DD-A3A0-01exon_skip_420657
196094899196095026196094917196094917Frame_Shift_DelG-p.P272fs
LIHCTCGA-G3-A3CJ-01exon_skip_420657
196094899196095026196094917196094917Frame_Shift_DelG-p.P272fs
LIHCTCGA-DD-A1EG-01exon_skip_420657
196094899196095026196094984196094984Frame_Shift_DelA-p.F250fs
STADTCGA-BR-4370-01exon_skip_420660
196096292196096382196096324196096324Frame_Shift_DelA-p.F225fs
LIHCTCGA-DD-A39Y-01exon_skip_420661
196098767196098913196098861196098861Frame_Shift_DelT-p.N174fs
STADTCGA-BR-4187-01exon_skip_420663
196120425196120490196120448196120448Frame_Shift_DelA-p.F111fs
LIHCTCGA-CC-5264-01exon_skip_420669
196134117196134264196134222196134222Frame_Shift_DelT-p.N39fs
LIHCTCGA-CC-5264-01exon_skip_420669
196134117196134264196134222196134222Frame_Shift_DelT-p.N41fs
COADTCGA-AD-6889-01exon_skip_420657
196094899196095026196094916196094917Frame_Shift_Ins-Gp.K273fs
STADTCGA-BR-8284-01exon_skip_420661
196098767196098913196098766196098766Splice_SiteCTp.Q205_splice

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
CL34_LARGE_INTESTINE196094899196095026196094911196094911Frame_Shift_DelT-p.K274fs
LIM1215_LARGE_INTESTINE196094899196095026196094911196094911Frame_Shift_DelT-p.K274fs
EN_ENDOMETRIUM196094899196095026196094910196094911Frame_Shift_Ins-Tp.C275fs
SNGM_ENDOMETRIUM196088715196088794196088770196088770Missense_MutationCTp.R418Q
IHH4_THYROID196094899196095026196094930196094930Missense_MutationGCp.S268C
NO10_CENTRAL_NERVOUS_SYSTEM196094899196095026196094930196094930Missense_MutationGCp.S268C
CCK81_LARGE_INTESTINE196096292196096382196096352196096352Missense_MutationAGp.Y216H
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE196098767196098913196098807196098807Missense_MutationGAp.A192V
HEC59_ENDOMETRIUM196098767196098913196098811196098811Missense_MutationCTp.E191K
PECAPJ15_UPPER_AERODIGESTIVE_TRACT196098767196098913196098867196098867Missense_MutationATp.I172N
TK10_KIDNEY196098767196098913196098867196098867Missense_MutationACp.I172S
CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE196120425196120490196120463196120463Missense_MutationGAp.S106L
SNU1040_LARGE_INTESTINE196134117196134264196134120196134120Missense_MutationGAp.T73I
PANC0813_PANCREAS196134117196134264196134148196134148Missense_MutationCGp.A64P
EBC1_LUNG196134117196134264196134172196134172Missense_MutationCTp.A56T
LS411N_LARGE_INTESTINE196134117196134264196134180196134180Missense_MutationCTp.G53E

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBXN7

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 UBXN7


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBXN7


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RelatedDrugs for UBXN7

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 UBXN7

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