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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: 32409

FusionGeneSummary for RUNX1_TARDBP

check button Fusion gene summary
Fusion gene informationFusion gene name: RUNX1_TARDBP
Fusion gene ID: 32409
HgeneTgene
Gene symbol

RUNX1

TARDBP

Gene ID

861

23435

Gene namerunt related transcription factor 1TAR DNA binding protein
SynonymsAML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alphaALS10|TDP-43
Cytomap

21q22.12

1p36.22

Type of geneprotein-codingprotein-coding
Descriptionrunt-related transcription factor 1AML1-EVI-1 fusion proteinPEA2-alpha BPEBP2-alpha BSL3-3 enhancer factor 1 alpha B subunitSL3/AKV core-binding factor alpha B subunitacute myeloid leukemia 1 proteincore-binding factor, runt domain, alpha subunit 2TAR DNA-binding protein 43TAR DNA-binding protein-43
Modification date2018052720180527
UniProtAcc

Q01196

Q13148

Ensembl transtripts involved in fusion geneENST00000344691, ENST00000325074, 
ENST00000437180, ENST00000300305, 
ENST00000399240, ENST00000486278, 
ENST00000494829, ENST00000358356, 
ENST00000240185, ENST00000439080, 
ENST00000315091, ENST00000480464, 
Fusion gene scores* DoF score23 X 25 X 7=40254 X 4 X 1=16
# samples 534
** MAII scorelog2(53/4025*10)=-2.92492451843878
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RUNX1 [Title/Abstract] AND TARDBP [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
HgeneRUNX1

GO:0030097

hemopoiesis

21873977

HgeneRUNX1

GO:0045893

positive regulation of transcription, DNA-templated

10207087|14970218

HgeneRUNX1

GO:0045944

positive regulation of transcription by RNA polymerase II

9199349|10207087|14970218|21873977

TgeneTARDBP

GO:0008380

RNA splicing

11285240

TgeneTARDBP

GO:0043922

negative regulation by host of viral transcription

7745706

TgeneTARDBP

GO:0070935

3'-UTR-mediated mRNA stabilization

17481916


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
ChiTaRS3.1S60998RUNX1chr21

36171711

-TARDBPchr1

11082634

+
* 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-3CDSENST00000344691ENST00000240185RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000344691ENST00000439080RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000344691ENST00000315091RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000344691ENST00000480464RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000325074ENST00000240185RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000325074ENST00000439080RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000325074ENST00000315091RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000325074ENST00000480464RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000437180ENST00000240185RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000437180ENST00000439080RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000437180ENST00000315091RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000437180ENST00000480464RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000300305ENST00000240185RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000300305ENST00000439080RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000300305ENST00000315091RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000300305ENST00000480464RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000399240ENST00000240185RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000399240ENST00000439080RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000399240ENST00000315091RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000399240ENST00000480464RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000486278ENST00000240185RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000486278ENST00000439080RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000486278ENST00000315091RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000486278ENST00000480464RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000494829ENST00000240185RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000494829ENST00000439080RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000494829ENST00000315091RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000494829ENST00000480464RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000358356ENST00000240185RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-3CDSENST00000358356ENST00000439080RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000358356ENST00000315091RUNX1chr21

36171711

-TARDBPchr1

11082634

+
intron-intronENST00000358356ENST00000480464RUNX1chr21

36171711

-TARDBPchr1

11082634

+

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FusionProtFeatures for RUNX1_TARDBP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RUNX1

Q01196

TARDBP

Q13148


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 RUNX1_TARDBP


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 RUNX1_TARDBP


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 RUNX1_TARDBP


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 RUNX1_TARDBP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRUNX1C0023467Leukemia, Myelocytic, Acute2CTD_human;HPO
HgeneRUNX1C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma2CTD_human
HgeneRUNX1C0003873Rheumatoid Arthritis1CTD_human
HgeneRUNX1C0017636Glioblastoma1CTD_human
HgeneRUNX1C0033578Prostatic Neoplasms1CTD_human
HgeneRUNX1C0349639Juvenile Myelomonocytic Leukemia1CTD_human
HgeneRUNX1C1832388Platelet Disorder, Familial, with Associated Myeloid Malignancy1CTD_human;ORPHANET;UNIPROT
HgeneRUNX1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneTARDBPC2677565AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)9UNIPROT
TgeneTARDBPC0002736Amyotrophic Lateral Sclerosis6CTD_human;HPO;ORPHANET
TgeneTARDBPC0751072Frontotemporal Lobar Degeneration2CTD_human