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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 UBR4

check button Gene summary
Gene informationGene symbol

UBR4

Gene ID

23352

Gene nameubiquitin protein ligase E3 component n-recognin 4
SynonymsRBAF600|ZUBR1|p600
Cytomap

1p36.13

Type of geneprotein-coding
DescriptionE3 ubiquitin-protein ligase UBR4N-recognin-4RING-type E3 ubiquitin transferase UBR4retinoblastoma-associated factor 600-like proteinretinoblastoma-associated factor of 600 kDazinc finger UBR1-type protein 1
Modification date20180523
UniProtAcc

Q5T4S7

ContextPubMed: UBR4 [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
UBR4

GO:0006511

ubiquitin-dependent protein catabolic process

23932781


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Exon skipping events across known transcript of Ensembl for UBR4 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 UBR4

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 UBR4

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_22234119403233:19403396:19404278:19404341:19404469:1940455219404278:19404341ENSG00000127481.10ENST00000375267.2
exon_skip_22241119403233:19403396:19404469:19404560:19407842:1940806719404469:19404560ENSG00000127481.10ENST00000375226.2,ENST00000375224.1,ENST00000375225.3,ENST00000375254.3,ENST00000429347.2,ENST00000543981.1,ENST00000375217.2
exon_skip_22260119404469:19404560:19407842:19408067:19410997:1941119219407842:19408067ENSG00000127481.10ENST00000375226.2,ENST00000375224.1,ENST00000375254.3,ENST00000429347.2,ENST00000375267.2,ENST00000543981.1,ENST00000375217.2
exon_skip_22264119413172:19413315:19414309:19414423:19415252:1941547119414309:19414423ENSG00000127481.10ENST00000375226.2,ENST00000375224.1,ENST00000375254.3,ENST00000429347.2,ENST00000375267.2,ENST00000543981.1,ENST00000375217.2
exon_skip_22265119415252:19415471:19419312:19419412:19419806:1941993419419312:19419412ENSG00000127481.10ENST00000375226.2,ENST00000375224.1,ENST00000375254.3,ENST00000429347.2,ENST00000375267.2,ENST00000543981.1,ENST00000375217.2
exon_skip_22266119420588:19420633:19421399:19421519:19422038:1942214619421399:19421519ENSG00000127481.10ENST00000375226.2,ENST00000375224.1,ENST00000375254.3,ENST00000375267.2,ENST00000543981.1,ENST00000375217.2,ENST00000483922.1,ENST00000467272.2
exon_skip_22269119423016:19423144:19423686:19423774:19426090:1942614919423686:19423774ENSG00000127481.10ENST00000375226.2,ENST00000375224.1,ENST00000375254.3,ENST00000429347.2,ENST00000375267.2,ENST00000375217.2,ENST00000467272.2
exon_skip_22271119423686:19423774:19426090:19426171:19426869:1942706719426090:19426171ENSG00000127481.10ENST00000375226.2,ENST00000375224.1,ENST00000375254.3,ENST00000375267.2,ENST00000375217.2
exon_skip_22275119433330:19433460:19436589:19436717:19436873:1943695819436589:19436717ENSG00000127481.10ENST00000375226.2,ENST00000375254.3,ENST00000375267.2,ENST00000375217.2,ENST00000494503.1
exon_skip_22276119436873:19436958:19437235:19437326:19439017:1943918119437235:19437326ENSG00000127481.10ENST00000375226.2,ENST00000375254.3,ENST00000375267.2,ENST00000375217.2
exon_skip_22278119444316:19444404:19445365:19445451:19446050:1944619519445365:19445451ENSG00000127481.10ENST00000375226.2,ENST00000375254.3,ENST00000375267.2,ENST00000375217.2
exon_skip_22279119451034:19451184:19452096:19452193:19452939:1945314919452096:19452193ENSG00000127481.10ENST00000475973.1
exon_skip_22280119451034:19451184:19452939:19453149:19454116:1945419519452939:19453149ENSG00000127481.10ENST00000425413.1,ENST00000375226.2,ENST00000417040.1,ENST00000375254.3,ENST00000375267.2,ENST00000375217.2
exon_skip_22284119465576:19465714:19467281:19467386:19467840:1946801819467281:19467386ENSG00000127481.10ENST00000375254.3,ENST00000375267.2
exon_skip_22287119465576:19465714:19467840:19468018:19468140:1946826819467840:19468018ENSG00000127481.10ENST00000425413.1,ENST00000375226.2,ENST00000417040.1,ENST00000375217.2
exon_skip_22293119467281:19467386:19467840:19468018:19468140:1946827119467840:19468018ENSG00000127481.10ENST00000375254.3,ENST00000375267.2
exon_skip_22296119472286:19472427:19472516:19472600:19473319:1947349419472516:19472600ENSG00000127481.10ENST00000425413.1,ENST00000375217.2
exon_skip_22298119475056:19475120:19476256:19476289:19477070:1947728719476256:19476289ENSG00000127481.10ENST00000375226.2,ENST00000417040.1
exon_skip_22300119475056:19475120:19477070:19477287:19478136:1947819419477070:19477287ENSG00000127481.10ENST00000425413.1,ENST00000375254.3,ENST00000375267.2,ENST00000375217.2

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

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Exon skipping events with PSIs in GTEx for UBR4

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_22234119403233:19403396:19404278:19404341:19404469:1940455219404278:19404341ENSG00000127481.10ENST00000375267.2
exon_skip_22241119403233:19403396:19404469:19404560:19407842:1940806719404469:19404560ENSG00000127481.10ENST00000375254.3,ENST00000375217.2,ENST00000375226.2,ENST00000375225.3,ENST00000375224.1,ENST00000429347.2,ENST00000543981.1
exon_skip_22260119404469:19404560:19407842:19408067:19410997:1941119219407842:19408067ENSG00000127481.10ENST00000375254.3,ENST00000375267.2,ENST00000375217.2,ENST00000375226.2,ENST00000375224.1,ENST00000429347.2,ENST00000543981.1
exon_skip_22264119413172:19413315:19414309:19414423:19415252:1941547119414309:19414423ENSG00000127481.10ENST00000375254.3,ENST00000375267.2,ENST00000375217.2,ENST00000375226.2,ENST00000375224.1,ENST00000429347.2,ENST00000543981.1
exon_skip_22265119415252:19415471:19419312:19419412:19419806:1941993419419312:19419412ENSG00000127481.10ENST00000375254.3,ENST00000375267.2,ENST00000375217.2,ENST00000375226.2,ENST00000375224.1,ENST00000429347.2,ENST00000543981.1
exon_skip_22266119420588:19420633:19421399:19421519:19422038:1942214619421399:19421519ENSG00000127481.10ENST00000375254.3,ENST00000375267.2,ENST00000375217.2,ENST00000375226.2,ENST00000375224.1,ENST00000543981.1,ENST00000467272.2,ENST00000483922.1
exon_skip_22269119423016:19423144:19423686:19423774:19426090:1942614919423686:19423774ENSG00000127481.10ENST00000375254.3,ENST00000375267.2,ENST00000375217.2,ENST00000375226.2,ENST00000375224.1,ENST00000429347.2,ENST00000467272.2
exon_skip_22271119423686:19423774:19426090:19426171:19426869:1942706719426090:19426171ENSG00000127481.10ENST00000375254.3,ENST00000375267.2,ENST00000375217.2,ENST00000375226.2,ENST00000375224.1
exon_skip_22275119433330:19433460:19436589:19436717:19436873:1943695819436589:19436717ENSG00000127481.10ENST00000375254.3,ENST00000375267.2,ENST00000375217.2,ENST00000375226.2,ENST00000494503.1
exon_skip_22276119436873:19436958:19437235:19437326:19439017:1943918119437235:19437326ENSG00000127481.10ENST00000375254.3,ENST00000375267.2,ENST00000375217.2,ENST00000375226.2
exon_skip_22278119444316:19444404:19445365:19445451:19446050:1944619519445365:19445451ENSG00000127481.10ENST00000375254.3,ENST00000375267.2,ENST00000375217.2,ENST00000375226.2
exon_skip_22279119451034:19451184:19452096:19452193:19452939:1945314919452096:19452193ENSG00000127481.10ENST00000475973.1
exon_skip_22280119451034:19451184:19452939:19453149:19454116:1945419519452939:19453149ENSG00000127481.10ENST00000375254.3,ENST00000375267.2,ENST00000375217.2,ENST00000375226.2,ENST00000425413.1,ENST00000417040.1
exon_skip_22284119465576:19465714:19467281:19467386:19467840:1946801819467281:19467386ENSG00000127481.10ENST00000375254.3,ENST00000375267.2
exon_skip_22287119465576:19465714:19467840:19468018:19468140:1946826819467840:19468018ENSG00000127481.10ENST00000375217.2,ENST00000375226.2,ENST00000425413.1,ENST00000417040.1
exon_skip_22293119467281:19467386:19467840:19468018:19468140:1946827119467840:19468018ENSG00000127481.10ENST00000375254.3,ENST00000375267.2
exon_skip_22296119472286:19472427:19472516:19472600:19473319:1947349419472516:19472600ENSG00000127481.10ENST00000375217.2,ENST00000425413.1
exon_skip_22298119475056:19475120:19476256:19476289:19477070:1947728719476256:19476289ENSG00000127481.10ENST00000375226.2,ENST00000417040.1
exon_skip_22300119475056:19475120:19477070:19477287:19478136:1947819419477070:19477287ENSG00000127481.10ENST00000375254.3,ENST00000375267.2,ENST00000375217.2,ENST00000425413.1

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 UBR4

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
ENST000003752541940446919404560Frame-shift
ENST000003752541941931219419412Frame-shift
ENST000003752541942368619423774Frame-shift
ENST000003752541943658919436717Frame-shift
ENST000003752541943723519437326Frame-shift
ENST000003752541944536519445451Frame-shift
ENST000003752541946784019468018Frame-shift
ENST000003752541947707019477287Frame-shift
ENST000003752541940784219408067In-frame
ENST000003752541941430919414423In-frame
ENST000003752541942139919421519In-frame
ENST000003752541942609019426171In-frame
ENST000003752541945293919453149In-frame
ENST000003752541946728119467386In-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
ENST000003752541940446919404560Frame-shift
ENST000003752541941931219419412Frame-shift
ENST000003752541942368619423774Frame-shift
ENST000003752541943658919436717Frame-shift
ENST000003752541943723519437326Frame-shift
ENST000003752541944536519445451Frame-shift
ENST000003752541946784019468018Frame-shift
ENST000003752541947707019477287Frame-shift
ENST000003752541940784219408067In-frame
ENST000003752541941430919414423In-frame
ENST000003752541942139919421519In-frame
ENST000003752541942609019426171In-frame
ENST000003752541945293919453149In-frame
ENST000003752541946728119467386In-frame

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Infer the effects of exon skipping event on protein functional features for UBR4

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
ENST0000037525415923518319467281194673868517862128292864
ENST0000037525415923518319452939194531499257946630763146
ENST000003752541592351831942609019426171132501333044074434
ENST000003752541592351831942139919421519136551377445424582
ENST000003752541592351831941430919414423144591457248104848
ENST000003752541592351831940784219408067150371526150035077

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
ENST0000037525415923518319467281194673868517862128292864
ENST0000037525415923518319452939194531499257946630763146
ENST000003752541592351831942609019426171132501333044074434
ENST000003752541592351831942139919421519136551377445424582
ENST000003752541592351831941430919414423144591457248104848
ENST000003752541592351831940784219408067150371526150035077

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 UBR4

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-A39Y-01exon_skip_22260
19407843194080671940793319407933Frame_Shift_DelG-p.P5048fs
LIHCTCGA-DD-A39Y-01exon_skip_22271
19426091194261711942612019426120Frame_Shift_DelA-p.Y4425fs
LIHCTCGA-DD-A3A0-01exon_skip_22275
19436590194367171943660819436608Frame_Shift_DelG-p.P4029fs
LIHCTCGA-G3-A3CJ-01exon_skip_22276
19437236194373261943727719437277Frame_Shift_DelC-p.V3951fs
LIHCTCGA-DD-A1EG-01exon_skip_22276
19437236194373261943730719437307Frame_Shift_DelG-p.Q3942fs
LIHCTCGA-DD-A1EG-01exon_skip_22287
exon_skip_22293
19467841194680181946792319467923Frame_Shift_DelG-p.P2802fs
PRADTCGA-CH-5769-01exon_skip_22287
exon_skip_22293
19467841194680181946792319467923Frame_Shift_DelG-p.P2802fs
STADTCGA-BR-4257-01exon_skip_22287
exon_skip_22293
19467841194680181946792319467923Frame_Shift_DelG-p.M2803fs
STADTCGA-CG-4442-01exon_skip_22287
exon_skip_22293
19467841194680181946792319467923Frame_Shift_DelG-p.M2803fs
STADTCGA-CG-4442-01exon_skip_22287
exon_skip_22293
19467841194680181946792319467923Frame_Shift_DelG-p.P2802fs
STADTCGA-CG-5728-01exon_skip_22287
exon_skip_22293
19467841194680181946792319467923Frame_Shift_DelG-p.M2803fs
STADTCGA-CG-5733-01exon_skip_22287
exon_skip_22293
19467841194680181946792319467923Frame_Shift_DelG-p.M2803fs
UCECTCGA-AP-A0LE-01exon_skip_22287
exon_skip_22293
19467841194680181946792319467923Frame_Shift_DelG-p.P2802fs
UCECTCGA-D1-A0ZS-01exon_skip_22287
exon_skip_22293
19467841194680181946792319467923Frame_Shift_DelG-p.P2802fs
UCECTCGA-D1-A17B-01exon_skip_22287
exon_skip_22293
19467841194680181946792319467923Frame_Shift_DelG-p.P2802fs
UCECTCGA-D1-A17D-01exon_skip_22287
exon_skip_22293
19467841194680181946792319467923Frame_Shift_DelG-p.P2802fs
UCECTCGA-D1-A17M-01exon_skip_22287
exon_skip_22293
19467841194680181946792319467923Frame_Shift_DelG-p.P2802fs
LIHCTCGA-DD-A3A0-01exon_skip_22300
19477071194772871947710019477100Frame_Shift_DelG-p.P2467fs
LIHCTCGA-G3-A3CJ-01exon_skip_22300
19477071194772871947710019477100Frame_Shift_DelG-p.P2467fs
HNSCTCGA-CR-5248-01exon_skip_22280
19452940194531491945306719453067Nonsense_MutationGCp.S3104*
LUADTCGA-MN-A4N5-01exon_skip_22287
exon_skip_22293
19467841194680181946800019468000Nonsense_MutationCAp.E2777*

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
SNGM_ENDOMETRIUM19421400194215191942148219421482Frame_Shift_DelC-p.G4555fs
HEC265_ENDOMETRIUM19467841194680181946792319467923Frame_Shift_DelG-p.P2802fs
EFO27_OVARY19467841194680181946792319467923Frame_Shift_DelG-p.P2802fs
HCT116_LARGE_INTESTINE19467841194680181946792319467923Frame_Shift_DelG-p.P2802fs
SNUC5_LARGE_INTESTINE19467841194680181946792319467923Frame_Shift_DelG-p.P2802fs
OC316_OVARY19477071194772871947719119477191Frame_Shift_DelG-p.P2437fs
OC314_OVARY19477071194772871947719119477191Frame_Shift_DelG-p.P2437fs
TE14_OESOPHAGUS19407843194080671940795119407951Missense_MutationGAp.A5042V
C33A_CERVIX19407843194080671940797619407976Missense_MutationCTp.G5034R
UMUC14_URINARY_TRACT19407843194080671940797919407979Missense_MutationCTp.D5033N
SISO_CERVIX19407843194080671940806219408062Missense_MutationCTp.R5005Q
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE19407843194080671940806219408062Missense_MutationCTp.R5005Q
MPP89_PLEURA19407843194080671940806219408062Missense_MutationCTp.R5005Q
BICR18_UPPER_AERODIGESTIVE_TRACT19419313194194121941932019419320Missense_MutationCGp.G4735A
SKNDZ_AUTONOMIC_GANGLIA19419313194194121941934119419341Missense_MutationCTp.G4728D
NOS1_BONE19419313194194121941934519419345Missense_MutationGAp.R4727W
SNGM_ENDOMETRIUM19421400194215191942141119421411Missense_MutationTCp.S4579G
SNU175_LARGE_INTESTINE19423687194237741942374419423744Missense_MutationGAp.R4445W
M14_SKIN19426091194261711942613519426135Missense_MutationGAp.P4420S
MDAMB435S_SKIN19426091194261711942613519426135Missense_MutationGAp.P4420S
SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE19436590194367171943662719436627Missense_MutationACp.L4023R
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE19437236194373261943731019437310Missense_MutationTCp.T3940A
TE11_OESOPHAGUS19445366194454511944538519445385Missense_MutationGAp.P3508S
NCIH513_PLEURA19445366194454511944542219445422Missense_MutationCGp.E3495D
SNU308_BILIARY_TRACT19467282194673861946729419467294Missense_MutationTCp.T2861A
HT115_LARGE_INTESTINE19467282194673861946731419467314Missense_MutationTCp.D2854G
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE19467841194680181946794319467943Missense_MutationCTp.G2796S
DU145_PROSTATE19477071194772871947714719477147Missense_MutationTCp.N2452D
UOK101_KIDNEY19477071194772871947714719477147Missense_MutationTCp.N2452D
BICR18_UPPER_AERODIGESTIVE_TRACT19477071194772871947718419477184Missense_MutationTGp.E2439D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE19477071194772871947718419477184Missense_MutationTGp.E2439D
MALME3M_SKIN19414310194144231941440819414408Nonsense_MutationGAp.Q4816*
PWR1E_PROSTATE19445366194454511944544519445445Nonsense_MutationCAp.E3488*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBR4

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 UBR4


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBR4


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RelatedDrugs for UBR4

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 UBR4

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