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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 TULP4

check button Gene summary
Gene informationGene symbol

TULP4

Gene ID

56995

Gene nametubby like protein 4
SynonymsTUSP
Cytomap

6q25.3

Type of geneprotein-coding
Descriptiontubby-related protein 4tubby super-family proteintubby superfamily protein
Modification date20180523
UniProtAcc

Q9NRJ4

ContextPubMed: TULP4 [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 TULP4 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 TULP4

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 TULP4

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4550506158733691:158735300:158834096:158834225:158850767:158850929158834096:158834225ENSG00000130338.8ENST00000367097.3
exon_skip_4550516158834096:158834225:158850767:158850929:158870027:158870208158850767:158850929ENSG00000130338.8ENST00000367097.3,ENST00000367094.2
exon_skip_4550546158873165:158873300:158882594:158882761:158900782:158901007158882594:158882761ENSG00000130338.8ENST00000367097.3,ENST00000367094.2
exon_skip_4550586158902086:158902321:158910619:158910764:158914604:158914749158910619:158910764ENSG00000130338.8ENST00000367097.3,ENST00000367094.2
exon_skip_4550616158914604:158914749:158915784:158915878:158919700:158919844158915784:158915878ENSG00000130338.8ENST00000367097.3,ENST00000367094.2
exon_skip_4550656158919700:158919844:158922709:158925210:158927609:158929408158922709:158925210ENSG00000130338.8ENST00000367097.3

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

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Exon skipping events with PSIs in GTEx for TULP4

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4550506158733691:158735300:158834096:158834225:158850767:158850929158834096:158834225ENSG00000130338.8ENST00000367097.3
exon_skip_4550516158834096:158834225:158850767:158850929:158870027:158870208158850767:158850929ENSG00000130338.8ENST00000367094.2,ENST00000367097.3
exon_skip_4550546158873165:158873300:158882594:158882761:158900782:158901007158882594:158882761ENSG00000130338.8ENST00000367094.2,ENST00000367097.3
exon_skip_4550586158902086:158902321:158910619:158910764:158914604:158914749158910619:158910764ENSG00000130338.8ENST00000367094.2,ENST00000367097.3
exon_skip_4550616158914604:158914749:158915784:158915878:158919700:158919844158915784:158915878ENSG00000130338.8ENST00000367094.2,ENST00000367097.3
exon_skip_4550656158919700:158919844:158922709:158925210:158927609:158929408158922709:158925210ENSG00000130338.8ENST00000367097.3

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 TULP4

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
ENST00000367097158882594158882761Frame-shift
ENST00000367097158910619158910764Frame-shift
ENST00000367097158915784158915878Frame-shift
ENST00000367097158922709158925210Frame-shift
ENST00000367097158834096158834225In-frame
ENST00000367097158850767158850929In-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
ENST00000367097158882594158882761Frame-shift
ENST00000367097158910619158910764Frame-shift
ENST00000367097158915784158915878Frame-shift
ENST00000367097158922709158925210Frame-shift
ENST00000367097158834096158834225In-frame
ENST00000367097158850767158850929In-frame

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Infer the effects of exon skipping event on protein functional features for TULP4

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
ENST000003670971114015431588340961588342251610173884127
ENST0000036709711140154315885076715885092917391900127181

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
ENST000003670971114015431588340961588342251610173884127
ENST0000036709711140154315885076715885092917391900127181

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
Q9NRJ48412711543ChainID=PRO_0000186472;Note=Tubby-related protein 4
Q9NRJ48412773115RepeatNote=WD 2
Q9NRJ484127116158RepeatNote=WD 3
Q9NRJ412718111543ChainID=PRO_0000186472;Note=Tubby-related protein 4
Q9NRJ4127181116158RepeatNote=WD 3
Q9NRJ4127181159237RepeatNote=WD 4


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
Q9NRJ48412711543ChainID=PRO_0000186472;Note=Tubby-related protein 4
Q9NRJ48412773115RepeatNote=WD 2
Q9NRJ484127116158RepeatNote=WD 3
Q9NRJ412718111543ChainID=PRO_0000186472;Note=Tubby-related protein 4
Q9NRJ4127181116158RepeatNote=WD 3
Q9NRJ4127181159237RepeatNote=WD 4


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SNVs in the skipped exons for TULP4

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.
TULP4_BRCA_exon_skip_455061_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
KIRPTCGA-P4-AAVL-01exon_skip_455054
158882595158882761158882608158882629Frame_Shift_DelGTGGTGCACACAGGGGGACTTG-p.291_298del
LIHCTCGA-DD-A3A0-01exon_skip_455054
158882595158882761158882726158882726Frame_Shift_DelG-p.G331fs
LIHCTCGA-G3-A3CJ-01exon_skip_455058
158910620158910764158910724158910724Frame_Shift_DelC-p.P531fs
LIHCTCGA-DD-A39Y-01exon_skip_455061
158915785158915878158915819158915819Frame_Shift_DelG-p.W604fs
LIHCTCGA-G3-A3CJ-01exon_skip_455061
158915785158915878158915819158915819Frame_Shift_DelG-p.W604fs
LIHCTCGA-DD-A1EG-01exon_skip_455065
158922710158925210158922745158922745Frame_Shift_DelC-p.P684fs
KIRCTCGA-B0-5098-01exon_skip_455065
158922710158925210158923024158923024Frame_Shift_DelC-p.P779fs
COADTCGA-A6-6780-01exon_skip_455065
158922710158925210158923160158923160Frame_Shift_DelC-p.A822fs
LIHCTCGA-DD-A39Y-01exon_skip_455065
158922710158925210158923160158923160Frame_Shift_DelC-p.A822fs
LIHCTCGA-G3-A3CJ-01exon_skip_455065
158922710158925210158923160158923160Frame_Shift_DelC-p.A822fs
STADTCGA-D7-A4YY-01exon_skip_455065
158922710158925210158923160158923160Frame_Shift_DelC-p.A822fs
LIHCTCGA-DD-A39Y-01exon_skip_455065
158922710158925210158923198158923198Frame_Shift_DelC-p.P836fs
LIHCTCGA-DD-A1EG-01exon_skip_455065
158922710158925210158923337158923337Frame_Shift_DelC-p.T881fs
CESCTCGA-EA-A410-01exon_skip_455065
158922710158925210158923715158923715Frame_Shift_DelC-p.L1009fs
SARCTCGA-X2-A95T-01exon_skip_455065
158922710158925210158923753158923753Frame_Shift_DelG-p.V1022fs
STADTCGA-BR-4280-01exon_skip_455065
158922710158925210158923753158923753Frame_Shift_DelG-p.G1020fs
UCECTCGA-AP-A0LT-01exon_skip_455065
158922710158925210158923753158923753Frame_Shift_DelG-p.G1020fs
UCECTCGA-D1-A101-01exon_skip_455065
158922710158925210158924532158924532Frame_Shift_DelC-p.L1279fs
COADTCGA-AD-6889-01exon_skip_455065
158922710158925210158923159158923160Frame_Shift_Ins-Cp.A822fs
UCECTCGA-D1-A174-01exon_skip_455065
158922710158925210158923752158923753Frame_Shift_Ins-Gp.P1019fs
UCECTCGA-D1-A177-01exon_skip_455065
158922710158925210158923752158923753Frame_Shift_Ins-Gp.P1019fs
STADTCGA-BR-8372-01exon_skip_455065
158922710158925210158923753158923754Frame_Shift_Ins-Gp.P1019fs
STADTCGA-BR-8081-01exon_skip_455065
158922710158925210158924562158924563Frame_Shift_Ins-Cp.K1289fs
STADTCGA-BR-8081-01exon_skip_455065
158922710158925210158924563158924564Frame_Shift_Ins-Cp.K1289fs
THYMTCGA-ZB-A96Q-01exon_skip_455051
158850768158850929158850885158850885Nonsense_MutationGTp.E167X
LGGTCGA-DU-6392-01exon_skip_455051
158850768158850929158850911158850911Nonsense_MutationGAp.W175*
LGGTCGA-DU-6392-01exon_skip_455065
158922710158925210158923090158923090Nonsense_MutationCTp.Q799*
STADTCGA-F1-6874-01exon_skip_455065
158922710158925210158923693158923693Nonsense_MutationCTp.Q1000*
STADTCGA-F1-6874-01exon_skip_455065
158922710158925210158923693158923693Nonsense_MutationCTp.Q1000X
LUADTCGA-44-7667-01exon_skip_455065
158922710158925210158924188158924188Nonsense_MutationCTp.R1165*
LUSCTCGA-60-2720-01exon_skip_455065
158922710158925210158924188158924188Nonsense_MutationCTp.R1165*
BRCATCGA-BH-A18Q-01exon_skip_455061
158915785158915878158915879158915879Splice_SiteGTe11+1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
TULP4_158914604_158914749_158915784_158915878_158919700_158919844_TCGA-BH-A18Q-01Sample: TCGA-BH-A18Q-01
Cancer type: BRCA
ESID: exon_skip_455061
Skipped exon start: 158915785
Skipped exon end: 158915878
Mutation start: 158915879
Mutation end: 158915879
Mutation type: Splice_Site
Reference seq: G
Mutation seq: T
AAchange: e11+1
exon_skip_286384_BRCA_TCGA-BH-A18Q-01.png
boxplot
exon_skip_455061_BRCA_TCGA-BH-A18Q-01.png
boxplot
exon_skip_479254_BRCA_TCGA-BH-A18Q-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
RKO_LARGE_INTESTINE158922710158925210158923198158923198Frame_Shift_DelC-p.P836fs
JHUEM2_ENDOMETRIUM158922710158925210158923337158923337Frame_Shift_DelC-p.T881fs
TOV21G_OVARY158922710158925210158923715158923715Frame_Shift_DelC-p.A1007fs
SNU520_STOMACH158922710158925210158923753158923753Frame_Shift_DelG-p.G1021fs
HCT116_LARGE_INTESTINE158922710158925210158923753158923753Frame_Shift_DelG-p.G1021fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM158922710158925210158923753158923753Frame_Shift_DelG-p.G1021fs
SNU175_LARGE_INTESTINE158922710158925210158924517158924517Frame_Shift_DelC-p.N1274fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE158922710158925210158925151158925151Frame_Shift_DelG-p.G1487fs
IHH4_THYROID158922710158925210158924639158924640Frame_Shift_Ins-CCAGp.-1316fs
GP2D_LARGE_INTESTINE158834097158834225158834155158834155Missense_MutationGAp.G104E
GP5D_LARGE_INTESTINE158834097158834225158834155158834155Missense_MutationGAp.G104E
JHUEM1_ENDOMETRIUM158834097158834225158834166158834166Missense_MutationGAp.V108M
JHUEM7_ENDOMETRIUM158834097158834225158834181158834181Missense_MutationGAp.E113K
EW7_BONE158834097158834225158834184158834184Missense_MutationGAp.G114S
GI1_CENTRAL_NERVOUS_SYSTEM158834097158834225158834188158834188Missense_MutationGTp.R115M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE158850768158850929158850825158850825Missense_MutationGAp.G147R
SNU175_LARGE_INTESTINE158850768158850929158850898158850898Missense_MutationCTp.T171M
KMRC1_KIDNEY158850768158850929158850898158850898Missense_MutationCTp.T171M
TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE158850768158850929158850906158850906Missense_MutationAGp.I174V
MFE296_ENDOMETRIUM158882595158882761158882613158882613Missense_MutationGAp.C293Y
VCAP_PROSTATE158882595158882761158882636158882636Missense_MutationGTp.V301F
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE158882595158882761158882639158882639Missense_MutationGAp.A302T
HEC108_ENDOMETRIUM158882595158882761158882639158882639Missense_MutationGAp.A302T
CP50EBV_MATCHED_NORMAL_TISSUE158882595158882761158882651158882651Missense_MutationCTp.R306W
SNU81_LARGE_INTESTINE158910620158910764158910647158910647Missense_MutationCAp.S505Y
BICR18_UPPER_AERODIGESTIVE_TRACT158910620158910764158910739158910739Missense_MutationGTp.A536S
NCIH630_LARGE_INTESTINE158915785158915878158915825158915825Missense_MutationCAp.T606N
AU565_BREAST158922710158925210158922722158922722Missense_MutationCGp.S676C
SKBR3_BREAST158922710158925210158922722158922722Missense_MutationCGp.S676C
MEWO_SKIN158922710158925210158922763158922763Missense_MutationCTp.P690S
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE158922710158925210158922766158922766Missense_MutationAGp.I691V
MDAMB361_BREAST158922710158925210158922876158922876Missense_MutationGCp.Q727H
NCIH1435_LUNG158922710158925210158923036158923036Missense_MutationGTp.G781W
SAS_UPPER_AERODIGESTIVE_TRACT158922710158925210158923039158923039Missense_MutationCTp.P782S
CME1_SOFT_TISSUE158922710158925210158923055158923055Missense_MutationCTp.T787M
HCT116_LARGE_INTESTINE158922710158925210158923055158923055Missense_MutationCTp.T787M
HEC59_ENDOMETRIUM158922710158925210158923084158923084Missense_MutationCTp.H797Y
22RV1_PROSTATE158922710158925210158923170158923170Missense_MutationGTp.E825D
NMCG1_CENTRAL_NERVOUS_SYSTEM158922710158925210158923231158923231Missense_MutationACp.T846P
HCC15_LUNG158922710158925210158923231158923231Missense_MutationACp.T846P
SNU1041_UPPER_AERODIGESTIVE_TRACT158922710158925210158923478158923478Missense_MutationCTp.T928M
22RV1_PROSTATE158922710158925210158923528158923528Missense_MutationCTp.R945C
LS411N_LARGE_INTESTINE158922710158925210158923544158923544Missense_MutationGAp.R950H
HS936T_SKIN158922710158925210158923556158923556Missense_MutationCTp.P954L
CORL311_LUNG158922710158925210158923582158923582Missense_MutationGCp.E963Q
MZ7MEL_SKIN158922710158925210158923600158923600Missense_MutationGAp.A969T
GP5D_LARGE_INTESTINE158922710158925210158923633158923633Missense_MutationATp.N980Y
MFE319_ENDOMETRIUM158922710158925210158923640158923640Missense_MutationTCp.L982P
HEC251_ENDOMETRIUM158922710158925210158923643158923643Missense_MutationTCp.I983T
SH10TC_STOMACH158922710158925210158923843158923843Missense_MutationGAp.G1050R
SUPB8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE158922710158925210158923843158923843Missense_MutationGAp.G1050R
SNU1040_LARGE_INTESTINE158922710158925210158923883158923883Missense_MutationCTp.A1063V
ESO26_OESOPHAGUS158922710158925210158924047158924047Missense_MutationCTp.R1118W
LAN6_AUTONOMIC_GANGLIA158922710158925210158924054158924054Missense_MutationCGp.P1120R
L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE158922710158925210158924060158924060Missense_MutationAGp.Y1122C
NCIH1770_LUNG158922710158925210158924123158924123Missense_MutationCTp.S1143L
NCIH2106_LUNG158922710158925210158924123158924123Missense_MutationCTp.S1143L
PCI6A_UPPER_AERODIGESTIVE_TRACT158922710158925210158924251158924251Missense_MutationGAp.G1186R
HEC108_ENDOMETRIUM158922710158925210158924291158924291Missense_MutationCTp.P1199L
UACC812_BREAST158922710158925210158924341158924341Missense_MutationAGp.T1216A
LOVO_LARGE_INTESTINE158922710158925210158924381158924381Missense_MutationCTp.P1229L
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE158922710158925210158924542158924542Missense_MutationCTp.P1283S
SNUC5_LARGE_INTESTINE158922710158925210158924554158924554Missense_MutationGAp.V1287M
WM793_SKIN158922710158925210158924594158924594Missense_MutationACp.Q1300P
MKN1_STOMACH158922710158925210158924737158924737Missense_MutationGAp.G1348S
PRECLH_PROSTATE158922710158925210158924866158924866Missense_MutationCGp.L1391V
HEC108_ENDOMETRIUM158922710158925210158924932158924932Missense_MutationTCp.F1413L
JHOC5_OVARY158922710158925210158924961158924961Missense_MutationGCp.Q1422H
MCC26_SKIN158922710158925210158925055158925055Missense_MutationGAp.E1454K
GP2D_LARGE_INTESTINE158922710158925210158925121158925121Missense_MutationGAp.E1476K
GP5D_LARGE_INTESTINE158922710158925210158925121158925121Missense_MutationGAp.E1476K
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE158922710158925210158925131158925131Missense_MutationAGp.Q1479R
SKUT1_SOFT_TISSUE158922710158925210158925175158925175Missense_MutationGAp.A1494T
KMH2_THYROID158922710158925210158924731158924731Nonsense_MutationGTp.E1346*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TULP4

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 TULP4


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TULP4


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RelatedDrugs for TULP4

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 TULP4

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