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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 SURF2

check button Gene summary
Gene informationGene symbol

SURF2

Gene ID

6835

Gene namesurfeit 2
SynonymsSURF-2
Cytomap

9q34.2

Type of geneprotein-coding
Descriptionsurfeit locus protein 2
Modification date20180523
UniProtAcc

Q15527

ContextPubMed: SURF2 [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 SURF2 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 SURF2

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 SURF2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5007559136223789:136223944:136224586:136224690:136226825:136226900136224586:136224690ENSG00000148291.5ENST00000371964.4
exon_skip_5007619136223923:136224058:136224586:136224690:136226825:136226900136224586:136224690ENSG00000148291.5ENST00000486887.1
exon_skip_5007629136224586:136224690:136226825:136227005:136227140:136227310136226825:136227005ENSG00000148291.5ENST00000371964.4
exon_skip_5007699136226825:136227005:136227140:136227310:136227931:136228045136227140:136227310ENSG00000148291.5ENST00000371964.4

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

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Exon skipping events with PSIs in GTEx for SURF2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5007559136223789:136223944:136224586:136224690:136226825:136226900136224586:136224690ENSG00000148291.5ENST00000371964.4
exon_skip_5007619136223923:136224058:136224586:136224690:136226825:136226900136224586:136224690ENSG00000148291.5ENST00000486887.1
exon_skip_5007629136224586:136224690:136226825:136227005:136227140:136227310136226825:136227005ENSG00000148291.5ENST00000371964.4
exon_skip_5007699136226825:136227005:136227140:136227310:136227931:136228045136227140:136227310ENSG00000148291.5ENST00000371964.4

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 SURF2

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
ENST00000371964136224586136224690Frame-shift
ENST00000371964136227140136227310Frame-shift
ENST00000371964136226825136227005In-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
ENST00000371964136224586136224690Frame-shift
ENST00000371964136227140136227310Frame-shift
ENST00000371964136226825136227005In-frame

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Infer the effects of exon skipping event on protein functional features for SURF2

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
ENST00000371964859256136226825136227005379558112172

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
ENST00000371964859256136226825136227005379558112172

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
Q155271121721256ChainID=PRO_0000072319;Note=Surfeit locus protein 2
Q15527112172142143Sequence conflictNote=DG->EA;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15527112172160160Sequence conflictNote=G->A;Ontology_term=ECO:0000305;evidence=ECO:0000305


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
Q155271121721256ChainID=PRO_0000072319;Note=Surfeit locus protein 2
Q15527112172142143Sequence conflictNote=DG->EA;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15527112172160160Sequence conflictNote=G->A;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for SURF2

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_500769
136227141136227310136227149136227149Frame_Shift_DelT-p.F176fs
HNSCTCGA-CX-7082-01exon_skip_500769
136227141136227310136227265136227266Frame_Shift_DelGA-p.R214fs
HNSCTCGA-CX-7082-01exon_skip_500769
136227141136227310136227265136227266Frame_Shift_DelGA-p.RR214fs
SARCTCGA-QQ-A5VD-01exon_skip_500761
exon_skip_500755
136224587136224690136224672136224672Nonsense_MutationCTp.Q107*

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
JHH6_LIVER136226826136227005136226922136226932Frame_Shift_DelGCCCGCGGGAA-p.RPRE145fs
SNUC4_LARGE_INTESTINE136224587136224690136224616136224616Missense_MutationGAp.R88Q
JHH6_LIVER136226826136227005136226915136226915Missense_MutationGAp.G143R
NCIH513_PLEURA136226826136227005136226921136226921Missense_MutationCTp.R145C
NCIH1688_LUNG136226826136227005136226924136226924Missense_MutationCAp.P146T
NCIH2172_LUNG136226826136227005136226925136226925Missense_MutationCAp.P146Q
GP5D_LARGE_INTESTINE136227141136227310136227261136227261Missense_MutationGAp.S213N
CHLA218_BONE136227141136227310136227262136227262Missense_MutationCGp.S213R
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE136227141136227310136227262136227262Missense_MutationCGp.S213R
TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE136227141136227310136227267136227267Missense_MutationGAp.R215K
COLO824_BREAST136224587136224690136224675136224675Nonsense_MutationCTp.R108*
SW1783_CENTRAL_NERVOUS_SYSTEM136226826136227005136227005136227005Splice_SiteCTp.P173S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SURF2

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 SURF2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SURF2


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RelatedDrugs for SURF2

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 SURF2

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