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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: 21170

FusionGeneSummary for MAX_RUNX2

check button Fusion gene summary
Fusion gene informationFusion gene name: MAX_RUNX2
Fusion gene ID: 21170
HgeneTgene
Gene symbol

MAX

RUNX2

Gene ID

4149

860

Gene nameMYC associated factor Xrunt related transcription factor 2
SynonymsbHLHd4AML3|CBF-alpha-1|CBFA1|CCD|CCD1|CLCD|OSF-2|OSF2|PEA2aA|PEBP2aA
Cytomap

14q23.3

6p21.1

Type of geneprotein-codingprotein-coding
Descriptionprotein maxclass D basic helix-loop-helix protein 4runt-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

P61244

Q13950

Ensembl transtripts involved in fusion geneENST00000341653, ENST00000358402, 
ENST00000555932, ENST00000284165, 
ENST00000358664, ENST00000555419, 
ENST00000557277, ENST00000556979, 
ENST00000555667, ENST00000557746, 
ENST00000556443, ENST00000246163, 
ENST00000541979, ENST00000465038, 
ENST00000352853, ENST00000371438, 
ENST00000371436, ENST00000576263, 
ENST00000371432, ENST00000359524, 
ENST00000483243, 
Fusion gene scores* DoF score4 X 2 X 4=323 X 3 X 3=27
# samples 43
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: MAX [Title/Abstract] AND RUNX2 [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
HgeneMAX

GO:0000122

negative regulation of transcription by RNA polymerase II

8521822

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
TCGARVHNSCTCGA-CN-5367-01AMAXchr14

65560426

-RUNX2chr6

45405684

+
* 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
Frame-shitENST00000341653ENST00000541979MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000341653ENST00000465038MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000341653ENST00000352853MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000341653ENST00000371438MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000341653ENST00000371436MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000341653ENST00000576263MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000341653ENST00000371432MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000341653ENST00000359524MAXchr14

65560426

-RUNX2chr6

45405684

+
5CDS-intronENST00000341653ENST00000483243MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358402ENST00000541979MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358402ENST00000465038MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358402ENST00000352853MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358402ENST00000371438MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358402ENST00000371436MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358402ENST00000576263MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358402ENST00000371432MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358402ENST00000359524MAXchr14

65560426

-RUNX2chr6

45405684

+
5CDS-intronENST00000358402ENST00000483243MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555932ENST00000541979MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555932ENST00000465038MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555932ENST00000352853MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555932ENST00000371438MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555932ENST00000371436MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555932ENST00000576263MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555932ENST00000371432MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555932ENST00000359524MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-intronENST00000555932ENST00000483243MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000284165ENST00000541979MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000284165ENST00000465038MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000284165ENST00000352853MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000284165ENST00000371438MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000284165ENST00000371436MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000284165ENST00000576263MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000284165ENST00000371432MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000284165ENST00000359524MAXchr14

65560426

-RUNX2chr6

45405684

+
5CDS-intronENST00000284165ENST00000483243MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358664ENST00000541979MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358664ENST00000465038MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358664ENST00000352853MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358664ENST00000371438MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358664ENST00000371436MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358664ENST00000576263MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358664ENST00000371432MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000358664ENST00000359524MAXchr14

65560426

-RUNX2chr6

45405684

+
5CDS-intronENST00000358664ENST00000483243MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555419ENST00000541979MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555419ENST00000465038MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555419ENST00000352853MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555419ENST00000371438MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555419ENST00000371436MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555419ENST00000576263MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555419ENST00000371432MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-3CDSENST00000555419ENST00000359524MAXchr14

65560426

-RUNX2chr6

45405684

+
intron-intronENST00000555419ENST00000483243MAXchr14

65560426

-RUNX2chr6

45405684

+
5UTR-3CDSENST00000557277ENST00000541979MAXchr14

65560426

-RUNX2chr6

45405684

+
5UTR-3CDSENST00000557277ENST00000465038MAXchr14

65560426

-RUNX2chr6

45405684

+
5UTR-3CDSENST00000557277ENST00000352853MAXchr14

65560426

-RUNX2chr6

45405684

+
5UTR-3CDSENST00000557277ENST00000371438MAXchr14

65560426

-RUNX2chr6

45405684

+
5UTR-3CDSENST00000557277ENST00000371436MAXchr14

65560426

-RUNX2chr6

45405684

+
5UTR-3CDSENST00000557277ENST00000576263MAXchr14

65560426

-RUNX2chr6

45405684

+
5UTR-3CDSENST00000557277ENST00000371432MAXchr14

65560426

-RUNX2chr6

45405684

+
5UTR-3CDSENST00000557277ENST00000359524MAXchr14

65560426

-RUNX2chr6

45405684

+
5UTR-intronENST00000557277ENST00000483243MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556979ENST00000541979MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556979ENST00000465038MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556979ENST00000352853MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556979ENST00000371438MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556979ENST00000371436MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556979ENST00000576263MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556979ENST00000371432MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556979ENST00000359524MAXchr14

65560426

-RUNX2chr6

45405684

+
5CDS-intronENST00000556979ENST00000483243MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000555667ENST00000541979MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000555667ENST00000465038MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000555667ENST00000352853MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000555667ENST00000371438MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000555667ENST00000371436MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000555667ENST00000576263MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000555667ENST00000371432MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000555667ENST00000359524MAXchr14

65560426

-RUNX2chr6

45405684

+
5CDS-intronENST00000555667ENST00000483243MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000557746ENST00000541979MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000557746ENST00000465038MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000557746ENST00000352853MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000557746ENST00000371438MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000557746ENST00000371436MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000557746ENST00000576263MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000557746ENST00000371432MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000557746ENST00000359524MAXchr14

65560426

-RUNX2chr6

45405684

+
5CDS-intronENST00000557746ENST00000483243MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556443ENST00000541979MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556443ENST00000465038MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556443ENST00000352853MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556443ENST00000371438MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556443ENST00000371436MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556443ENST00000576263MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556443ENST00000371432MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000556443ENST00000359524MAXchr14

65560426

-RUNX2chr6

45405684

+
5CDS-intronENST00000556443ENST00000483243MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000246163ENST00000541979MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000246163ENST00000465038MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000246163ENST00000352853MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000246163ENST00000371438MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000246163ENST00000371436MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000246163ENST00000576263MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000246163ENST00000371432MAXchr14

65560426

-RUNX2chr6

45405684

+
Frame-shitENST00000246163ENST00000359524MAXchr14

65560426

-RUNX2chr6

45405684

+
5CDS-intronENST00000246163ENST00000483243MAXchr14

65560426

-RUNX2chr6

45405684

+

Top

FusionProtFeatures for MAX_RUNX2


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

P61244

RUNX2

Q13950

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 MAX_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 MAX_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
MAXPLEKHF2, 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, TRIM25RUNX2HDAC3, 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, SKP2


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 MAX_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

Top

RelatedDiseases for MAX_RUNX2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAXC0031511Pheochromocytoma1CTD_human
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