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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: 32389

FusionGeneSummary for RUNX1T1_STXBP5

check button Fusion gene summary
Fusion gene informationFusion gene name: RUNX1T1_STXBP5
Fusion gene ID: 32389
HgeneTgene
Gene symbol

RUNX1T1

STXBP5

Gene ID

862

134957

Gene nameRUNX1 translocation partner 1syntaxin binding protein 5
SynonymsAML1-MTG8|AML1T1|CBFA2T1|CDR|ETO|MTG8|ZMYND2LGL3|LLGL3|Nbla04300
Cytomap

8q21.3

6q24.3

Type of geneprotein-codingprotein-coding
Descriptionprotein CBFA2T1acute myelogenous leukemia 1 translocation 1, cyclin-D relatedcore-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-relatedeight twenty one proteinmyeloid translocation gene on 8q22runt related transcription fsyntaxin-binding protein 5lethal(2) giant larvae protein homolog 3putative protein product of Nbla04300tomosyntomosyn-1
Modification date2018052320180523
UniProtAcc

Q06455

Q5T5C0

Ensembl transtripts involved in fusion geneENST00000523629, ENST00000396218, 
ENST00000265814, ENST00000360348, 
ENST00000436581, ENST00000520724, 
ENST00000518844, ENST00000522163, 
ENST00000422361, ENST00000521553, 
ENST00000546097, ENST00000367481, 
ENST00000367480, ENST00000321680, 
ENST00000179882, 
Fusion gene scores* DoF score10 X 12 X 5=6002 X 2 X 1=4
# samples 122
** MAII scorelog2(12/600*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: RUNX1T1 [Title/Abstract] AND STXBP5 [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
HgeneRUNX1T1

GO:0045892

negative regulation of transcription, DNA-templated

23251453


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
ChiTaRS3.1BX506268RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
* 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-intronENST00000523629ENST00000546097RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000523629ENST00000367481RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000523629ENST00000367480RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000523629ENST00000321680RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000523629ENST00000179882RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000396218ENST00000546097RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000396218ENST00000367481RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000396218ENST00000367480RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000396218ENST00000321680RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000396218ENST00000179882RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000265814ENST00000546097RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000265814ENST00000367481RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000265814ENST00000367480RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000265814ENST00000321680RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000265814ENST00000179882RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000360348ENST00000546097RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000360348ENST00000367481RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000360348ENST00000367480RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000360348ENST00000321680RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000360348ENST00000179882RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000436581ENST00000546097RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000436581ENST00000367481RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000436581ENST00000367480RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000436581ENST00000321680RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000436581ENST00000179882RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000520724ENST00000546097RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000520724ENST00000367481RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000520724ENST00000367480RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000520724ENST00000321680RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000520724ENST00000179882RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000518844ENST00000546097RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000518844ENST00000367481RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000518844ENST00000367480RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000518844ENST00000321680RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000518844ENST00000179882RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000522163ENST00000546097RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000522163ENST00000367481RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000522163ENST00000367480RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000522163ENST00000321680RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000522163ENST00000179882RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000422361ENST00000546097RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000422361ENST00000367481RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000422361ENST00000367480RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000422361ENST00000321680RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000422361ENST00000179882RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000521553ENST00000546097RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000521553ENST00000367481RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000521553ENST00000367480RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000521553ENST00000321680RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+
intron-intronENST00000521553ENST00000179882RUNX1T1chr8

92999090

-STXBP5chr6

147674185

+

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FusionProtFeatures for RUNX1T1_STXBP5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RUNX1T1

Q06455

STXBP5

Q5T5C0

Plays a regulatory role in calcium-dependent exocytosisand neurotransmitter release. Inhibits membrane fusion betweentransport vesicles and the plasma membrane. May modulate theassembly of trans-SNARE complexes between transport vesicles andthe plasma membrane. Inhibits translocation of GLUT4 fromintracellular vesicles to the plasma membrane. Competes withSTXBP1 for STX1 binding (By similarity). {ECO:0000250}.

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 RUNX1T1_STXBP5


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 RUNX1T1_STXBP5


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 RUNX1T1_STXBP5


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 RUNX1T1_STXBP5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRUNX1T1C0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneRUNX1T1C0149925Small cell carcinoma of lung1CTD_human