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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: 31057

FusionGeneSummary for RFX2_MLLT1

check button Fusion gene summary
Fusion gene informationFusion gene name: RFX2_MLLT1
Fusion gene ID: 31057
HgeneTgene
Gene symbol

RFX2

MLLT1

Gene ID

5990

4298

Gene nameregulatory factor X2MLLT1, super elongation complex subunit
Synonyms-ENL|LTG19|YEATS1
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
DescriptionDNA-binding protein RFX2HLA class II regulatory factor RFX2regulatory factor X 2regulatory factor X, 2 (influences HLA class II expression)trans-acting regulatory factor 2protein ENLCTC-503J8.6ENL/MLL fusionMLL/ENL fusion proteinMLLT1/MLL fusionYEATS domain-containing protein 1myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 1myeloid/lymphoid or mixed-lineage leukemia (trithorax homol
Modification date2018052320180519
UniProtAcc

P48378

Q03111

Ensembl transtripts involved in fusion geneENST00000303657, ENST00000359161, 
ENST00000592546, ENST00000587700, 
ENST00000252674, ENST00000585588, 
Fusion gene scores* DoF score5 X 5 X 5=12510 X 20 X 6=1200
# samples 625
** MAII scorelog2(6/125*10)=-1.05889368905357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(25/1200*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RFX2 [Title/Abstract] AND MLLT1 [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

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
TCGARVESCATCGA-Z6-A8JD-01ARFX2chr19

6110404

-MLLT1chr19

6230724

-
* 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
5UTR-3CDSENST00000303657ENST00000252674RFX2chr19

6110404

-MLLT1chr19

6230724

-
5UTR-intronENST00000303657ENST00000585588RFX2chr19

6110404

-MLLT1chr19

6230724

-
intron-3CDSENST00000359161ENST00000252674RFX2chr19

6110404

-MLLT1chr19

6230724

-
intron-intronENST00000359161ENST00000585588RFX2chr19

6110404

-MLLT1chr19

6230724

-
5UTR-3CDSENST00000592546ENST00000252674RFX2chr19

6110404

-MLLT1chr19

6230724

-
5UTR-intronENST00000592546ENST00000585588RFX2chr19

6110404

-MLLT1chr19

6230724

-
intron-3CDSENST00000587700ENST00000252674RFX2chr19

6110404

-MLLT1chr19

6230724

-
intron-intronENST00000587700ENST00000585588RFX2chr19

6110404

-MLLT1chr19

6230724

-

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FusionProtFeatures for RFX2_MLLT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RFX2

P48378

MLLT1

Q03111

Transcription factor that acts as a key regulator ofspermatogenesis. Acts by regulating expression of genes requiredfor the haploid phase during spermiogenesis, such as genesrequired for cilium assembly and function (By similarity).Recognizes and binds the X-box, a regulatory motif with DNAsequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters(PubMed:10330134). Probably activates transcription of the testis-specific histone gene HIST1H1T (By similarity).{ECO:0000250|UniProtKB:P48379, ECO:0000269|PubMed:10330134}. Component of the super elongation complex (SEC), acomplex required to increase the catalytic rate of RNA polymeraseII transcription by suppressing transient pausing by thepolymerase at multiple sites along the DNA.{ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948}.

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 RFX2_MLLT1


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 RFX2_MLLT1


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
RFX2RFX6, MDFI, RFX4, FBXL3, C1orf94, FOXJ1, FOXJ2, FOXN3, FOXN2MLLT1CBX8, AFF1, CDK9, WDR5, DOT1L, MLLT3, RFX5, AFF4, CSNK2A1, BCOR, RFXAP, MLLT10, ACACA, CHD1, ELL, SIRT1, MLLT6, CCNT1, KMT2A, BRD4, ELL2, PAF1, POLR2A, MED26, HIST3H3, HIST1H1B, EAF1, ELL3, RNF2, RPL12, MRPL12, HIST2H2AC, H2AFX, HIST2H2BE, HIST4H4, BMI1, PIP4K2A, EPB41L2, CAMKV, BPIFB1, YAF2, RYBP, DENND2D, ARRB2, 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


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RelatedDrugs for RFX2_MLLT1


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 RFX2_MLLT1


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