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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 17087

FusionGeneSummary for IFNGR1_SLC38A2

check button Fusion gene summary
Fusion gene informationFusion gene name: IFNGR1_SLC38A2
Fusion gene ID: 17087
HgeneTgene
Gene symbol

IFNGR1

SLC38A2

Gene ID

3459

54407

Gene nameinterferon gamma receptor 1solute carrier family 38 member 2
SynonymsCD119|IFNGR|IMD27A|IMD27BATA2|PRO1068|SAT2|SNAT2
Cytomap

6q23.3

12q13.11

Type of geneprotein-codingprotein-coding
Descriptioninterferon gamma receptor 1AVP, type 2CD119 antigenCDw119IFN-gamma receptor 1IFN-gamma-R-alphaIFN-gamma-R1antiviral protein, type 2immune interferon receptor 1interferon-gamma receptor alpha chainsodium-coupled neutral amino acid transporter 2amino acid transporter 2amino acid transporter A2protein 40-9-1system A amino acid transporter 2system A transporter 1system N amino acid transporter 2
Modification date2018052420180523
UniProtAcc

P15260

Q96QD8

Ensembl transtripts involved in fusion geneENST00000367739, ENST00000543628, 
ENST00000367735, ENST00000478333, 
ENST00000256689, ENST00000551374, 
ENST00000547252, 
Fusion gene scores* DoF score4 X 3 X 3=363 X 3 X 1=9
# samples 54
** MAII scorelog2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/9*10)=2.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IFNGR1 [Title/Abstract] AND SLC38A2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AI133230IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
ChiTaRS3.1AF116669IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3UTRENST00000367739ENST00000256689IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
intron-intronENST00000367739ENST00000551374IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
intron-intronENST00000367739ENST00000547252IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
intron-3UTRENST00000543628ENST00000256689IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
intron-intronENST00000543628ENST00000551374IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
intron-intronENST00000543628ENST00000547252IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
intron-3UTRENST00000367735ENST00000256689IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
intron-intronENST00000367735ENST00000551374IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
intron-intronENST00000367735ENST00000547252IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
intron-3UTRENST00000478333ENST00000256689IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
intron-intronENST00000478333ENST00000551374IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-
intron-intronENST00000478333ENST00000547252IFNGR1chr6

137519182

+SLC38A2chr12

46752830

-

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FusionProtFeatures for IFNGR1_SLC38A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IFNGR1

P15260

SLC38A2

Q96QD8

Associates with IFNGR2 to form a receptor for thecytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:2971451,PubMed:7617032, PubMed:10986460). Ligand binding stimulatesactivation of the JAK/STAT signaling pathway (PubMed:7673114).Plays an essential role in the IFN-gamma pathway that is requiredfor the cellular response to infectious agents (PubMed:20015550).{ECO:0000269|PubMed:10986460, ECO:0000269|PubMed:20015550,ECO:0000269|PubMed:2971451, ECO:0000269|PubMed:7615558,ECO:0000269|PubMed:7617032, ECO:0000269|PubMed:7673114}. Functions as a sodium-dependent amino acid transporter.Mediates the saturable, pH-sensitive and electrogenic cotransportof neutral amino acids and sodium ions with a stoichiometry of1:1. May function in the transport of amino acids at the blood-brain barrier and in the supply of maternal nutrients to the fetusthrough the placenta. {ECO:0000269|PubMed:10930503,ECO:0000269|PubMed:15922329}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for IFNGR1_SLC38A2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for IFNGR1_SLC38A2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for IFNGR1_SLC38A2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for IFNGR1_SLC38A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIFNGR1C4011949IMMUNODEFICIENCY 27A2ORPHANET;UNIPROT
HgeneIFNGR1C0014175Endometriosis1CTD_human
HgeneIFNGR1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneIFNGR1C0151744Myocardial Ischemia1CTD_human
TgeneSLC38A2C0036341Schizophrenia1PSYGENET