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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 IFNGR2

check button Gene summary
Gene informationGene symbol

IFNGR2

Gene ID

3460

Gene nameinterferon gamma receptor 2
SynonymsAF-1|IFGR2|IFNGT1|IMD28
Cytomap

21q22.11

Type of geneprotein-coding
Descriptioninterferon gamma receptor 2IFN-gamma receptor 2IFN-gamma-R-betaIFN-gamma-R2interferon gamma receptor accessory factor-1interferon gamma receptor beta chaininterferon gamma transducer 1
Modification date20180523
UniProtAcc

P38484

ContextPubMed: IFNGR2 [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 IFNGR2 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 IFNGR2

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 IFNGR2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3593882134775771:34775922:34783141:34783198:34783750:3478387734783141:34783198ENSG00000159128.10ENST00000439213.1
exon_skip_3593892134775771:34775922:34783141:34783198:34787194:3478732734783141:34783198ENSG00000159128.10ENST00000381995.1
exon_skip_3593952134775771:34775922:34783146:34783198:34787194:3478732734783146:34783198ENSG00000159128.10ENST00000405436.1
exon_skip_3594072134783146:34783198:34783750:34783881:34787194:3478732734783750:34783881ENSG00000159128.10ENST00000439213.1
exon_skip_3594102134783146:34783198:34787194:34787327:34793786:3479399234787194:34787327ENSG00000159128.10ENST00000405436.1,ENST00000381995.1
exon_skip_3594132134783750:34783881:34787194:34787327:34793786:3479399234787194:34787327ENSG00000159128.10ENST00000439213.1
exon_skip_3594152134787194:34787327:34793786:34793992:34799190:3479933934793786:34793992ENSG00000159128.10ENST00000290219.6,ENST00000439213.1,ENST00000405436.1,ENST00000381995.1
exon_skip_3594192134793786:34793992:34799190:34799339:34804483:3480452334799190:34799339ENSG00000159128.10ENST00000545369.2,ENST00000290219.6,ENST00000439213.1,ENST00000405436.1,ENST00000381995.1
exon_skip_3594232134799190:34799339:34804483:34804643:34805020:3480517834804483:34804643ENSG00000159128.10ENST00000545369.2,ENST00000290219.6,ENST00000405436.1,ENST00000381995.1

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

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Exon skipping events with PSIs in GTEx for IFNGR2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3593882134775771:34775922:34783141:34783198:34783750:3478387734783141:34783198ENSG00000159128.10ENST00000439213.1
exon_skip_3593892134775771:34775922:34783141:34783198:34787194:3478732734783141:34783198ENSG00000159128.10ENST00000381995.1
exon_skip_3593952134775771:34775922:34783146:34783198:34787194:3478732734783146:34783198ENSG00000159128.10ENST00000405436.1
exon_skip_3594072134783146:34783198:34783750:34783881:34787194:3478732734783750:34783881ENSG00000159128.10ENST00000439213.1
exon_skip_3594102134783146:34783198:34787194:34787327:34793786:3479399234787194:34787327ENSG00000159128.10ENST00000381995.1,ENST00000405436.1
exon_skip_3594132134783750:34783881:34787194:34787327:34793786:3479399234787194:34787327ENSG00000159128.10ENST00000439213.1
exon_skip_3594152134787194:34787327:34793786:34793992:34799190:3479933934793786:34793992ENSG00000159128.10ENST00000290219.6,ENST00000439213.1,ENST00000381995.1,ENST00000405436.1
exon_skip_3594192134793786:34793992:34799190:34799339:34804483:3480452334799190:34799339ENSG00000159128.10ENST00000290219.6,ENST00000439213.1,ENST00000381995.1,ENST00000545369.2,ENST00000405436.1
exon_skip_3594232134799190:34799339:34804483:34804643:34805020:3480517834804483:34804643ENSG00000159128.10ENST00000290219.6,ENST00000381995.1,ENST00000545369.2,ENST00000405436.1

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 IFNGR2

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

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

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Infer the effects of exon skipping event on protein functional features for IFNGR2

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

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

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 IFNGR2

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-G3-A3CJ-01exon_skip_359413
exon_skip_359410
34787195347873273478727934787279Frame_Shift_DelC-p.A53fs
COADTCGA-A6-5665-01exon_skip_359419
34799191347993393479929234799292Frame_Shift_DelT-p.A171fs
STADTCGA-CG-5728-01exon_skip_359419
34799191347993393479932034799320Frame_Shift_DelA-p.E181fs
UCECTCGA-B5-A0K2-01exon_skip_359419
34799191347993393479932034799320Frame_Shift_DelA-p.E181fs
CESCTCGA-BI-A0VS-01exon_skip_359423
34804484348046433480452734804528Frame_Shift_Ins-AAp.*202fs
CESCTCGA-BI-A0VS-01exon_skip_359423
34804484348046433480452734804528Frame_Shift_Ins-AAp.P204fs
BLCATCGA-LT-A5Z6-01exon_skip_359413
exon_skip_359410
34787195347873273478722134787221Nonsense_MutationCTp.Q34*
HNSCTCGA-CR-6472-01exon_skip_359413
exon_skip_359410
34787195347873273478722134787221Nonsense_MutationCTp.Q34*
BLCATCGA-FD-A3SO-01exon_skip_359423
34804484348046433480451534804515Nonsense_MutationCGp.S198*

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
HEC59_ENDOMETRIUM34799191347993393479929234799292Frame_Shift_DelT-p.F173fs
MDAPCA2B_PROSTATE34799191347993393479929234799292Frame_Shift_DelT-p.F173fs
CCK81_LARGE_INTESTINE34799191347993393479929234799292Frame_Shift_DelT-p.F173fs
KM12_LARGE_INTESTINE34799191347993393479929234799292Frame_Shift_DelT-p.F173fs
C33A_CERVIX34799191347993393479932034799320Frame_Shift_DelA-p.E181fs
LS180_LARGE_INTESTINE34787195347873273478726634787266Missense_MutationTAp.W49R
H290_PLEURA34787195347873273478730534787305Missense_MutationGTp.V62F
SNU1040_LARGE_INTESTINE34793787347939923479380934793809Missense_MutationGAp.A77T
HEC1A_ENDOMETRIUM34793787347939923479392034793920Missense_MutationCTp.R114C
HEC1_ENDOMETRIUM34793787347939923479392034793920Missense_MutationCTp.R114C
HEC1B_ENDOMETRIUM34793787347939923479392034793920Missense_MutationCTp.R114C
PACADD137_PANCREAS34793787347939923479398634793986Missense_MutationCTp.R136W
MDAMB415_BREAST34799191347993393479921534799215Missense_MutationTCp.I146T
HCC2218_BREAST34799191347993393479923634799236Missense_MutationGAp.G153D
SNU1040_LARGE_INTESTINE34804484348046433480450234804502Missense_MutationACp.S194R
SW1271_LUNG34804484348046433480458934804589Missense_MutationAGp.I223V
KMRC1_KIDNEY34804484348046433480462634804626Missense_MutationAGp.Y235C

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IFNGR2

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 IFNGR2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IFNGR2


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RelatedDrugs for IFNGR2

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 IFNGR2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
IFNGR2C4013947IMMUNODEFICIENCY 281ORPHANET;UNIPROT