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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: 32417

FusionGeneSummary for RUNX2_MAX

check button Fusion gene summary
Fusion gene informationFusion gene name: RUNX2_MAX
Fusion gene ID: 32417
HgeneTgene
Gene symbol

RUNX2

MAX

Gene ID

860

4149

Gene namerunt related transcription factor 2MYC associated factor X
SynonymsAML3|CBF-alpha-1|CBFA1|CCD|CCD1|CLCD|OSF-2|OSF2|PEA2aA|PEBP2aAbHLHd4
Cytomap

6p21.1

14q23.3

Type of geneprotein-codingprotein-coding
Descriptionrunt-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-3osteoblastprotein maxclass D basic helix-loop-helix protein 4
Modification date2018052320180523
UniProtAcc

Q13950

P61244

Ensembl transtripts involved in fusion geneENST00000541979, ENST00000465038, 
ENST00000352853, ENST00000371438, 
ENST00000371436, ENST00000576263, 
ENST00000371432, ENST00000359524, 
ENST00000483243, 		ENST00000341653, 
ENST00000358402, ENST00000555932, 
ENST00000284165, ENST00000358664, 
ENST00000555419, ENST00000557277, 
ENST00000556979, ENST00000555667, 
ENST00000557746, ENST00000556443, 
ENST00000246163, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 2=18
# samples 43
** MAII scorelog2(4/8*10)=2.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RUNX2 [Title/Abstract] AND MAX [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneRUNX2

GO:0045892

negative regulation of transcription, DNA-templated

11965546

HgeneRUNX2

GO:0045893

positive regulation of transcription, DNA-templated

11965546

TgeneMAX

GO:0000122

negative regulation of transcription by RNA polymerase II

8521822


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
TCGARVHNSCTCGA-CN-5367-01ARUNX2chr6

45399756

+MAXchr14

65544754

-
* 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
5CDS-intronENST00000541979ENST00000341653RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000541979ENST00000358402RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000541979ENST00000555932RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000541979ENST00000284165RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000541979ENST00000358664RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000541979ENST00000555419RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000541979ENST00000557277RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000541979ENST00000556979RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000541979ENST00000555667RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000541979ENST00000557746RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000541979ENST00000556443RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000541979ENST00000246163RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000465038ENST00000341653RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000465038ENST00000358402RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000465038ENST00000555932RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000465038ENST00000284165RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000465038ENST00000358664RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000465038ENST00000555419RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000465038ENST00000557277RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000465038ENST00000556979RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000465038ENST00000555667RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000465038ENST00000557746RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000465038ENST00000556443RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000465038ENST00000246163RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000352853ENST00000341653RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000352853ENST00000358402RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000352853ENST00000555932RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000352853ENST00000284165RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000352853ENST00000358664RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000352853ENST00000555419RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000352853ENST00000557277RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000352853ENST00000556979RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000352853ENST00000555667RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000352853ENST00000557746RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000352853ENST00000556443RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000352853ENST00000246163RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371438ENST00000341653RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371438ENST00000358402RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371438ENST00000555932RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371438ENST00000284165RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371438ENST00000358664RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371438ENST00000555419RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371438ENST00000557277RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371438ENST00000556979RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371438ENST00000555667RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371438ENST00000557746RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371438ENST00000556443RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371438ENST00000246163RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371436ENST00000341653RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371436ENST00000358402RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371436ENST00000555932RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371436ENST00000284165RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371436ENST00000358664RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371436ENST00000555419RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371436ENST00000557277RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371436ENST00000556979RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371436ENST00000555667RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371436ENST00000557746RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371436ENST00000556443RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371436ENST00000246163RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000576263ENST00000341653RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000576263ENST00000358402RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000576263ENST00000555932RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000576263ENST00000284165RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000576263ENST00000358664RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000576263ENST00000555419RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000576263ENST00000557277RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000576263ENST00000556979RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000576263ENST00000555667RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000576263ENST00000557746RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000576263ENST00000556443RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000576263ENST00000246163RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371432ENST00000341653RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371432ENST00000358402RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371432ENST00000555932RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371432ENST00000284165RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371432ENST00000358664RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371432ENST00000555419RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371432ENST00000557277RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371432ENST00000556979RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371432ENST00000555667RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371432ENST00000557746RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000371432ENST00000556443RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000371432ENST00000246163RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000359524ENST00000341653RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000359524ENST00000358402RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000359524ENST00000555932RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000359524ENST00000284165RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000359524ENST00000358664RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000359524ENST00000555419RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000359524ENST00000557277RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000359524ENST00000556979RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000359524ENST00000555667RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000359524ENST00000557746RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-5UTRENST00000359524ENST00000556443RUNX2chr6

45399756

+MAXchr14

65544754

-
5CDS-intronENST00000359524ENST00000246163RUNX2chr6

45399756

+MAXchr14

65544754

-
intron-intronENST00000483243ENST00000341653RUNX2chr6

45399756

+MAXchr14

65544754

-
intron-intronENST00000483243ENST00000358402RUNX2chr6

45399756

+MAXchr14

65544754

-
intron-intronENST00000483243ENST00000555932RUNX2chr6

45399756

+MAXchr14

65544754

-
intron-intronENST00000483243ENST00000284165RUNX2chr6

45399756

+MAXchr14

65544754

-
intron-intronENST00000483243ENST00000358664RUNX2chr6

45399756

+MAXchr14

65544754

-
intron-intronENST00000483243ENST00000555419RUNX2chr6

45399756

+MAXchr14

65544754

-
intron-5UTRENST00000483243ENST00000557277RUNX2chr6

45399756

+MAXchr14

65544754

-
intron-5UTRENST00000483243ENST00000556979RUNX2chr6

45399756

+MAXchr14

65544754

-
intron-5UTRENST00000483243ENST00000555667RUNX2chr6

45399756

+MAXchr14

65544754

-
intron-5UTRENST00000483243ENST00000557746RUNX2chr6

45399756

+MAXchr14

65544754

-
intron-5UTRENST00000483243ENST00000556443RUNX2chr6

45399756

+MAXchr14

65544754

-
intron-intronENST00000483243ENST00000246163RUNX2chr6

45399756

+MAXchr14

65544754

-

Top

FusionProtFeatures for RUNX2_MAX


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RUNX2

Q13950

MAX

P61244

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 RUNX2_MAX


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 RUNX2_MAX


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
RUNX2HDAC3, KAT6B, HDAC6, ALYREF, SMAD1, SMAD3, YAP1, JUN, FOS, ETS1, SMAD2, SMAD5, MSX2, STUB1, TLE1, HDAC4, HDAC5, KAT2B, HDAC1, EP300, BMPR1A, HES1, XRCC6, XRCC5, CREBBP, HDAC7, NR0B2, SOX9, RBM14, STAT3, SUV39H1, UBTF, FHL2, HIVEP3, WWP1, SMURF2, SMURF1, HIF1A, PML, RB1, TP53, CBFB, STAT5A, FBXW7, SKP2MAXPLEKHF2, MXI1, MYC, KAT2A, TRRAP, EP400, MSH2, MYCN, MYCL, SPAG9, MXD1, ZBTB17, MXD3, MXD4, SMAD3, SMAD4, TEAD1, MNT, MAX, KDM5C, EP300, CUX1, TAF1, CLIP2, COPS5, MGA, PLEKHA5, TXLNG, CEBPA, HNRNPU, YY1, HIF1A, EPAS1, CCNT1, PIM1, DMAP1, WDR5, KAT5, BRD8, PCGF6, HSPA1A, USF1, PPP1CA, PPP1CB, PPP1CC, SNIP1, DYNC1H1, CSTF2, HNRNPH2, ARL6IP5, CPSF6, KMT2D, HSP90AA1, PLIN3, GABBR1, FTH1, RPL35, FUS, RPL34, TUBA1A, USP37, FBXW11, BANP, UNC45A, XPO1, MAPK14, L3MBTL2, MECP2, SIN3A, E2F6, RNF2, EEF1D, FOXK2, MORC2, SMARCA5, RECQL, SAP130, BAZ1A, FOXK1, H2AFY, SMARCA1, TBP, TFAP2A, TFDP1, TWIST1, WIZ, YEATS4, RPA2, MTERF1, VRK3, LIG3, XRCC1, FBXW7, FOXR1, FOXR2, DNMT3L, POU5F1, BFSP2, TCP10L, ARNTL, RPRD1A, HAUS6, PHLDB3, PTRF, PHF21A, OIP5, CCDC93, CCDC132, HMG20A, RCOR1, GRIPAP1, DZIP3, VPS53, PSMD9, CLOCK, GOLGA5, RABGAP1L, TUFT1, CCHCR1, KDM1A, TFPT, NCKAP5L, GIT2, NUF2, THAP11, JUN, PKN3, RABGEF1, 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


Top

RelatedDrugs for RUNX2_MAX


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

Top

RelatedDiseases for RUNX2_MAX


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRUNX2C0008928Cleidocranial Dysplasia12CTD_human;ORPHANET;UNIPROT
HgeneRUNX2C0029463Osteosarcoma2CTD_human
HgeneRUNX2C0003872Arthritis, Psoriatic1CTD_human
HgeneRUNX2C0003873Rheumatoid Arthritis1CTD_human
HgeneRUNX2C0029408Degenerative polyarthritis1CTD_human
HgeneRUNX2C0040427Tooth Abnormalities1CTD_human
HgeneRUNX2C0041948Uremia1CTD_human
HgeneRUNX2C0243057Stomatognathic System Abnormalities1CTD_human
HgeneRUNX2C0376634Craniofacial Abnormalities1CTD_human
HgeneRUNX2C0949690Spondylarthritis1CTD_human
TgeneMAXC0031511Pheochromocytoma1CTD_human