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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: 16777

FusionGeneSummary for HS2ST1_RUNX2

check button Fusion gene summary
Fusion gene informationFusion gene name: HS2ST1_RUNX2
Fusion gene ID: 16777
HgeneTgene
Gene symbol

HS2ST1

RUNX2

Gene ID

9653

860

Gene nameheparan sulfate 2-O-sulfotransferase 1runt related transcription factor 2
SynonymsdJ604K5.2AML3|CBF-alpha-1|CBFA1|CCD|CCD1|CLCD|OSF-2|OSF2|PEA2aA|PEBP2aA
Cytomap

1p22.3

6p21.1

Type of geneprotein-codingprotein-coding
Descriptionheparan sulfate 2-O-sulfotransferase 12-O-sulfotransferase2OSTrunt-related transcription factor 2PEA2-alpha APEBP2-alpha ASL3-3 enhancer factor 1 alpha A subunitSL3/AKV core-binding factor alpha A subunitacute myeloid leukemia 3 proteincore-binding factor, runt domain, alpha subunit 1oncogene AML-3osteoblast
Modification date2018052320180523
UniProtAcc

Q7LGA3

Q13950

Ensembl transtripts involved in fusion geneENST00000370551, ENST00000370550, 
ENST00000356813, 
ENST00000541979, 
ENST00000465038, ENST00000352853, 
ENST00000371438, ENST00000371436, 
ENST00000576263, ENST00000371432, 
ENST00000359524, ENST00000483243, 
Fusion gene scores* DoF score9 X 5 X 5=2253 X 3 X 3=27
# samples 93
** MAII scorelog2(9/225*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HS2ST1 [Title/Abstract] AND RUNX2 [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
TgeneRUNX2

GO:0045892

negative regulation of transcription, DNA-templated

11965546

TgeneRUNX2

GO:0045893

positive regulation of transcription, DNA-templated

11965546


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
ChiTaRS3.1BF917753HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
* 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-intronENST00000370551ENST00000541979HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370551ENST00000465038HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370551ENST00000352853HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370551ENST00000371438HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370551ENST00000371436HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370551ENST00000576263HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370551ENST00000371432HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370551ENST00000359524HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370551ENST00000483243HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370550ENST00000541979HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370550ENST00000465038HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370550ENST00000352853HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370550ENST00000371438HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370550ENST00000371436HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370550ENST00000576263HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370550ENST00000371432HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370550ENST00000359524HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000370550ENST00000483243HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000356813ENST00000541979HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000356813ENST00000465038HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000356813ENST00000352853HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000356813ENST00000371438HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000356813ENST00000371436HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000356813ENST00000576263HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000356813ENST00000371432HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000356813ENST00000359524HS2ST1chr1

87381618

-RUNX2chr6

45421870

-
intron-intronENST00000356813ENST00000483243HS2ST1chr1

87381618

-RUNX2chr6

45421870

-

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FusionProtFeatures for HS2ST1_RUNX2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HS2ST1

Q7LGA3

RUNX2

Q13950

Catalyzes the transfer of sulfate to the C2-position ofselected hexuronic acid residues within the maturing heparansulfate (HS). 2-O-sulfation within HS, particularly of iduronateresidues, is essential for HS to participate in a variety of high-affinity ligand-binding interactions and signaling processes.Mediates 2-O-sulfation of both L-iduronyl and D-glucuronylresidues (By similarity). {ECO:0000250}. Transcription factor involved in osteoblasticdifferentiation and skeletal morphogenesis (PubMed:28505335,PubMed:28738062, PubMed:28703881). Essential for the maturation ofosteoblasts and both intramembranous and endochondralossification. CBF binds to the core site, 5'-PYGPYGGT-3', of anumber of enhancers and promoters, including murine leukemiavirus, polyomavirus enhancer, T-cell receptor enhancers,osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen,LCK, IL-3 and GM-CSF promoters. In osteoblasts, supportstranscription activation: synergizes with SPEN/MINT to enhanceFGFR2-mediated activation of the osteocalcin FGF-responsiveelement (OCFRE) (By similarity). Inhibits KAT6B-dependenttranscriptional activation. {ECO:0000250,ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:28505335,ECO:0000269|PubMed:28703881, ECO:0000269|PubMed:28738062}.

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 HS2ST1_RUNX2


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 HS2ST1_RUNX2


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 HS2ST1_RUNX2


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 HS2ST1_RUNX2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRUNX2C0008928Cleidocranial Dysplasia12CTD_human;ORPHANET;UNIPROT
TgeneRUNX2C0029463Osteosarcoma2CTD_human
TgeneRUNX2C0003872Arthritis, Psoriatic1CTD_human
TgeneRUNX2C0003873Rheumatoid Arthritis1CTD_human
TgeneRUNX2C0029408Degenerative polyarthritis1CTD_human
TgeneRUNX2C0040427Tooth Abnormalities1CTD_human
TgeneRUNX2C0041948Uremia1CTD_human
TgeneRUNX2C0243057Stomatognathic System Abnormalities1CTD_human
TgeneRUNX2C0376634Craniofacial Abnormalities1CTD_human
TgeneRUNX2C0949690Spondylarthritis1CTD_human