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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: 36378

FusionGeneSummary for STAT2_B4GALNT1

check button Fusion gene summary
Fusion gene informationFusion gene name: STAT2_B4GALNT1
Fusion gene ID: 36378
HgeneTgene
Gene symbol

STAT2

B4GALNT1

Gene ID

6773

2583

Gene namesignal transducer and activator of transcription 2beta-1,4-N-acetyl-galactosaminyltransferase 1
SynonymsIMD44|ISGF-3|P113|STAT113GALGT|GALNACT|GalNAc-T|SPG26
Cytomap

12q13.3

12q13.3

Type of geneprotein-codingprotein-coding
Descriptionsignal transducer and activator of transcription 2interferon alpha induced transcriptional activatorsignal transducer and activator of transcription 2, 113kDabeta-1,4 N-acetylgalactosaminyltransferase 1GD2 synthase, GM2 synthaseGM2/GD2 synthaseUDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acety
Modification date2018052320180519
UniProtAcc

P52630

Q00973

Ensembl transtripts involved in fusion geneENST00000556539, ENST00000314128, 
ENST00000557235, ENST00000418572, 
ENST00000341156, ENST00000418555, 
ENST00000449184, ENST00000550764, 
ENST00000552350, ENST00000550943, 
Fusion gene scores* DoF score4 X 3 X 3=363 X 1 X 2=6
# samples 43
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/6*10)=2.32192809488736
Context

PubMed: STAT2 [Title/Abstract] AND B4GALNT1 [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
TCGALDSARCTCGA-DX-A2IZ-01ASTAT2chr12

56753842

-B4GALNT1chr12

58025916

-
* 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-5UTRENST00000556539ENST00000341156STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
intron-5UTRENST00000556539ENST00000418555STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
intron-5UTRENST00000556539ENST00000449184STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
intron-5UTRENST00000556539ENST00000550764STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
intron-5UTRENST00000556539ENST00000552350STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
intron-5UTRENST00000556539ENST00000550943STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000314128ENST00000341156STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000314128ENST00000418555STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000314128ENST00000449184STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000314128ENST00000550764STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000314128ENST00000552350STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000314128ENST00000550943STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000557235ENST00000341156STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000557235ENST00000418555STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000557235ENST00000449184STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000557235ENST00000550764STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000557235ENST00000552350STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000557235ENST00000550943STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000418572ENST00000341156STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000418572ENST00000418555STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000418572ENST00000449184STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000418572ENST00000550764STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000418572ENST00000552350STAT2chr12

56753842

-B4GALNT1chr12

58025916

-
5UTR-5UTRENST00000418572ENST00000550943STAT2chr12

56753842

-B4GALNT1chr12

58025916

-

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FusionProtFeatures for STAT2_B4GALNT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
STAT2

P52630

B4GALNT1

Q00973

Signal transducer and activator of transcription thatmediates signaling by type I IFNs (IFN-alpha and IFN-beta).Following type I IFN binding to cell surface receptors, Jakkinases (TYK2 and JAK1) are activated, leading to tyrosinephosphorylation of STAT1 and STAT2. The phosphorylated STATsdimerize, associate with IRF9/ISGF3G to form a complex termedISGF3 transcription factor, that enters the nucleus. ISGF3 bindsto the IFN stimulated response element (ISRE) to activate thetranscription of interferon stimulated genes, which drive the cellin an antiviral state (PubMed:9020188, PubMed:23391734). Acts as aregulator of mitochondrial fission by modulating thephosphorylation of DNM1L at 'Ser-616' and 'Ser-637' which activateand inactivate the GTPase activity of DNM1L respectively(PubMed:26122121). {ECO:0000269|PubMed:23391734,ECO:0000269|PubMed:26122121, ECO:0000269|PubMed:9020188}. Involved in the biosynthesis of gangliosides GM2, GD2and GA2. {ECO:0000269|PubMed:1601877}.

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 STAT2_B4GALNT1


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 STAT2_B4GALNT1


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
STAT2SMARCA4, SMARCC2, SMARCC1, SMARCE1, CREBBP, EP300, STAT1, IFNAR2, IFNAR1, IRF9, MED14, HSPB1, RCAN1, ELAVL1, STAT6, HSP90AA1, FNTA, GAA, IWS1, UBR4, EGFR, LIPT1, DOK4, XPO1, PML, AURKA, CDH1, ZNF692, TACC1, MYCBP2, DPP9, FAM196A, FBXO45, TRRAP, INPPL1, USP1, SELO, KLHL10, FBXO11, EP400, IARS2, GYPAB4GALNT1B4GALNT1, ITM2B, TCTN2, TMED6, ST8SIA4, PCDH20, TRIM25


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 STAT2_B4GALNT1


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 STAT2_B4GALNT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneB4GALNT1C1836632SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder)1ORPHANET;UNIPROT