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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 SH3RF1

check button Gene summary
Gene informationGene symbol

SH3RF1

Gene ID

57630

Gene nameSH3 domain containing ring finger 1
SynonymsPOSH|RNF142|SH3MD2
Cytomap

4q32.3-q33

Type of geneprotein-coding
DescriptionE3 ubiquitin-protein ligase SH3RF1RING-type E3 ubiquitin transferase SH3RF1SH3 domain-containing RING finger protein 1SH3 multiple domains 2SH3 multiple domains protein 2plenty of SH3 domainsplenty of SH3sputative E3 ubiquitin-protein ligase SH3RF1
Modification date20180519
UniProtAcc

Q7Z6J0

ContextPubMed: SH3RF1 [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 SH3RF1 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 SH3RF1

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 SH3RF1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4329794170027997:170028356:170037419:170037781:170038673:170038933170037419:170037781ENSG00000154447.10ENST00000284637.9
exon_skip_4329814170038673:170038933:170041969:170042140:170043250:170043350170041969:170042140ENSG00000154447.10ENST00000511421.1,ENST00000508685.1,ENST00000284637.9
exon_skip_4329824170043250:170043417:170051196:170051307:170057468:170057771170051196:170051307ENSG00000154447.10ENST00000508685.1,ENST00000284637.9
exon_skip_4329834170051196:170051307:170057468:170057771:170076630:170076726170057468:170057771ENSG00000154447.10ENST00000511421.1,ENST00000508685.1,ENST00000284637.9
exon_skip_4329864170057468:170057771:170076630:170076726:170077554:170077808170076630:170076726ENSG00000154447.10ENST00000511421.1,ENST00000508685.1,ENST00000284637.9

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

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Exon skipping events with PSIs in GTEx for SH3RF1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4329814170038673:170038933:170041969:170042140:170043250:170043350170041969:170042140ENSG00000154447.10ENST00000284637.9,ENST00000511421.1,ENST00000508685.1
exon_skip_4329824170043250:170043417:170051196:170051307:170057468:170057771170051196:170051307ENSG00000154447.10ENST00000284637.9,ENST00000508685.1
exon_skip_4329834170051196:170051307:170057468:170057771:170076630:170076726170057468:170057771ENSG00000154447.10ENST00000284637.9,ENST00000511421.1,ENST00000508685.1
exon_skip_4329864170057468:170057771:170076630:170076726:170077554:170077808170076630:170076726ENSG00000154447.10ENST00000284637.9,ENST00000511421.1,ENST00000508685.1

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 SH3RF1

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
ENST00000284637170037419170037781Frame-shift
ENST00000284637170041969170042140In-frame
ENST00000284637170051196170051307In-frame
ENST00000284637170057468170057771In-frame
ENST00000284637170076630170076726In-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
ENST00000284637170041969170042140In-frame
ENST00000284637170051196170051307In-frame
ENST00000284637170057468170057771In-frame
ENST00000284637170076630170076726In-frame

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Infer the effects of exon skipping event on protein functional features for SH3RF1

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
ENST00000284637528988817007663017007672610121107223255
ENST00000284637528988817005746817005777111081410255356
ENST00000284637528988817005119617005130714111521356393
ENST00000284637528988817004196917004214016891859449505

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
ENST00000284637528988817007663017007672610121107223255
ENST00000284637528988817005746817005777111081410255356
ENST00000284637528988817005119617005130714111521356393
ENST00000284637528988817004196917004214016891859449505

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
Q7Z6J02232551888ChainID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1
Q7Z6J0223255196259DomainNote=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192
Q7Z6J02553561888ChainID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1
Q7Z6J0255356196259DomainNote=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192
Q7Z6J0255356304304Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:17535800;Dbxref=PMID:20068231,PMID:23186163,PMID:17535800
Q7Z6J0255356304304MutagenesisNote=Decreased level of phosphorylation and no change in the ability to induce apoptosis. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17535800;Dbxref=PMID:17535800
Q7Z6J0255356304304MutagenesisNote=Decreased level of phosphorylation and Rac-binding ability and important loss of the ability to induce apoptosis. S->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17535800;Dbxref=PMID:17535800
Q7Z6J0255356304304MutagenesisNote=Decreased Rac-binding ability. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17535800;Dbxref=PMID:17535800
Q7Z6J0255356292362RegionNote=Interaction with RAC1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20696164;Dbxref=PMID:20696164
Q7Z6J03563931888ChainID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1
Q7Z6J0356393292362RegionNote=Interaction with RAC1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20696164;Dbxref=PMID:20696164
Q7Z6J0449505442888Alternative sequenceID=VSP_033623;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6J04495051888ChainID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1
Q7Z6J0449505445506DomainNote=SH3 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192
Q7Z6J0449505440543RegionNote=Interaction with AKT2;Ontology_term=ECO:0000250;evidence=ECO:0000250


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
Q7Z6J02232551888ChainID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1
Q7Z6J0223255196259DomainNote=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192
Q7Z6J02553561888ChainID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1
Q7Z6J0255356196259DomainNote=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192
Q7Z6J0255356304304Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:17535800;Dbxref=PMID:20068231,PMID:23186163,PMID:17535800
Q7Z6J0255356304304MutagenesisNote=Decreased level of phosphorylation and no change in the ability to induce apoptosis. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17535800;Dbxref=PMID:17535800
Q7Z6J0255356304304MutagenesisNote=Decreased level of phosphorylation and Rac-binding ability and important loss of the ability to induce apoptosis. S->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17535800;Dbxref=PMID:17535800
Q7Z6J0255356304304MutagenesisNote=Decreased Rac-binding ability. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17535800;Dbxref=PMID:17535800
Q7Z6J0255356292362RegionNote=Interaction with RAC1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20696164;Dbxref=PMID:20696164
Q7Z6J03563931888ChainID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1
Q7Z6J0356393292362RegionNote=Interaction with RAC1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20696164;Dbxref=PMID:20696164
Q7Z6J0449505442888Alternative sequenceID=VSP_033623;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6J04495051888ChainID=PRO_0000334151;Note=E3 ubiquitin-protein ligase SH3RF1
Q7Z6J0449505445506DomainNote=SH3 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192
Q7Z6J0449505440543RegionNote=Interaction with AKT2;Ontology_term=ECO:0000250;evidence=ECO:0000250


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SNVs in the skipped exons for SH3RF1

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.
SH3RF1_PAAD_exon_skip_432982_psi_boxplot.png
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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_432981
170041970170042140170042032170042032Frame_Shift_DelC-p.G485fs
LIHCTCGA-DD-A3A1-01exon_skip_432982
170051197170051307170051202170051202Frame_Shift_DelG-p.L392fs
LIHCTCGA-DD-A39Y-01exon_skip_432983
170057469170057771170057551170057551Frame_Shift_DelG-p.P329fs
LIHCTCGA-DD-A3A0-01exon_skip_432983
170057469170057771170057551170057551Frame_Shift_DelG-p.P329fs
STADTCGA-BR-4201-01exon_skip_432983
170057469170057771170057551170057551Frame_Shift_DelG-p.P329fs
STADTCGA-BR-7707-01exon_skip_432983
170057469170057771170057551170057551Frame_Shift_DelG-p.P329fs
STADTCGA-CG-5723-01exon_skip_432983
170057469170057771170057551170057551Frame_Shift_DelG-p.P329fs
LIHCTCGA-G3-A3CJ-01exon_skip_432983
170057469170057771170057635170057635Frame_Shift_DelT-p.K301fs
STADTCGA-HU-8602-01exon_skip_432983
170057469170057771170057635170057635Frame_Shift_DelT-p.K301fs
LIHCTCGA-DD-A1EG-01exon_skip_432983
170057469170057771170057769170057769Frame_Shift_DelA-p.F256fs
PAADTCGA-IB-7651-01exon_skip_432982
170051197170051307170051308170051308Splice_SiteCT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
SH3RF1_170043250_170043417_170051196_170051307_170057468_170057771_TCGA-IB-7651-01Sample: TCGA-IB-7651-01
Cancer type: PAAD
ESID: exon_skip_432982
Skipped exon start: 170051197
Skipped exon end: 170051307
Mutation start: 170051308
Mutation end: 170051308
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: .
exon_skip_113241_PAAD_TCGA-IB-7651-01.png
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exon_skip_115380_PAAD_TCGA-IB-7651-01.png
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exon_skip_124564_PAAD_TCGA-IB-7651-01.png
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exon_skip_135806_PAAD_TCGA-IB-7651-01.png
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exon_skip_139341_PAAD_TCGA-IB-7651-01.png
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exon_skip_153733_PAAD_TCGA-IB-7651-01.png
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exon_skip_155805_PAAD_TCGA-IB-7651-01.png
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exon_skip_18053_PAAD_TCGA-IB-7651-01.png
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exon_skip_18056_PAAD_TCGA-IB-7651-01.png
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exon_skip_23067_PAAD_TCGA-IB-7651-01.png
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exon_skip_287059_PAAD_TCGA-IB-7651-01.png
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exon_skip_294631_PAAD_TCGA-IB-7651-01.png
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exon_skip_298512_PAAD_TCGA-IB-7651-01.png
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exon_skip_306900_PAAD_TCGA-IB-7651-01.png
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exon_skip_307723_PAAD_TCGA-IB-7651-01.png
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exon_skip_315960_PAAD_TCGA-IB-7651-01.png
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exon_skip_324675_PAAD_TCGA-IB-7651-01.png
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exon_skip_330351_PAAD_TCGA-IB-7651-01.png
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exon_skip_334330_PAAD_TCGA-IB-7651-01.png
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exon_skip_341784_PAAD_TCGA-IB-7651-01.png
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exon_skip_343314_PAAD_TCGA-IB-7651-01.png
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exon_skip_348329_PAAD_TCGA-IB-7651-01.png
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exon_skip_354232_PAAD_TCGA-IB-7651-01.png
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exon_skip_370626_PAAD_TCGA-IB-7651-01.png
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exon_skip_377740_PAAD_TCGA-IB-7651-01.png
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exon_skip_385032_PAAD_TCGA-IB-7651-01.png
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exon_skip_390031_PAAD_TCGA-IB-7651-01.png
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exon_skip_422548_PAAD_TCGA-IB-7651-01.png
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exon_skip_424536_PAAD_TCGA-IB-7651-01.png
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exon_skip_431753_PAAD_TCGA-IB-7651-01.png
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exon_skip_432982_PAAD_TCGA-IB-7651-01.png
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exon_skip_435489_PAAD_TCGA-IB-7651-01.png
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exon_skip_435729_PAAD_TCGA-IB-7651-01.png
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exon_skip_441705_PAAD_TCGA-IB-7651-01.png
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exon_skip_448879_PAAD_TCGA-IB-7651-01.png
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exon_skip_468347_PAAD_TCGA-IB-7651-01.png
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exon_skip_494000_PAAD_TCGA-IB-7651-01.png
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exon_skip_494029_PAAD_TCGA-IB-7651-01.png
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exon_skip_499410_PAAD_TCGA-IB-7651-01.png
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exon_skip_499695_PAAD_TCGA-IB-7651-01.png
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exon_skip_499697_PAAD_TCGA-IB-7651-01.png
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exon_skip_79905_PAAD_TCGA-IB-7651-01.png
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exon_skip_80096_PAAD_TCGA-IB-7651-01.png
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exon_skip_95924_PAAD_TCGA-IB-7651-01.png
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE170051197170051307170051214170051215Frame_Shift_Ins-Gp.Y388fs
YD38_UPPER_AERODIGESTIVE_TRACT170037420170037781170037472170037472Missense_MutationGAp.A696V
LN340_CENTRAL_NERVOUS_SYSTEM170037420170037781170037524170037524Missense_MutationTAp.S679C
LS411N_LARGE_INTESTINE170037420170037781170037532170037532Missense_MutationGAp.A676V
NUGC4_STOMACH170037420170037781170037614170037614Missense_MutationTCp.I649V
ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE170037420170037781170037646170037646Missense_MutationGCp.P638R
UMUC16_URINARY_TRACT170037420170037781170037679170037679Missense_MutationGAp.S627L
HEC1A_ENDOMETRIUM170037420170037781170037754170037754Missense_MutationGAp.T602M
HEC1_ENDOMETRIUM170037420170037781170037754170037754Missense_MutationGAp.T602M
SNU175_LARGE_INTESTINE170041970170042140170042034170042034Missense_MutationCAp.G485W
COLO699_LUNG170041970170042140170042063170042063Missense_MutationAGp.F475S
CHL1_SKIN170041970170042140170042063170042063Missense_MutationAGp.F475S
HMCB_SKIN170041970170042140170042063170042063Missense_MutationAGp.F475S
SNU349_KIDNEY170057469170057771170057489170057489Missense_MutationAGp.S350P
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE170057469170057771170057512170057512Missense_MutationCTp.R342Q
TGW_AUTONOMIC_GANGLIA170057469170057771170057512170057512Missense_MutationCTp.R342Q
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE170057469170057771170057521170057521Missense_MutationGAp.A339V
GSS_STOMACH170057469170057771170057552170057552Missense_MutationGAp.P329S
MEWO_SKIN170057469170057771170057593170057593Missense_MutationGAp.S315F
IPC298_SKIN170057469170057771170057626170057626Missense_MutationGAp.S304F
KM12_LARGE_INTESTINE170057469170057771170057633170057633Missense_MutationGAp.R302W
NCIBL128_MATCHED_NORMAL_TISSUE170057469170057771170057684170057684Nonsense_MutationGAp.Q285*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SH3RF1

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 SH3RF1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SH3RF1


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RelatedDrugs for SH3RF1

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 SH3RF1

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