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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: 21754

FusionGeneSummary for MFHAS1_UBAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: MFHAS1_UBAP1
Fusion gene ID: 21754
HgeneTgene
Gene symbol

MFHAS1

UBAP1

Gene ID

9258

51271

Gene namemalignant fibrous histiocytoma amplified sequence 1ubiquitin associated protein 1
SynonymsLRRC65|MASL1|ROCO4NAG20|UAP|UBAP|UBAP-1
Cytomap

8p23.1

9p13.3

Type of geneprotein-codingprotein-coding
Descriptionmalignant fibrous histiocytoma-amplified sequence 1MFH-amplified sequences with leucine-rich tandem repeats 1leucine rich repeat containing 65malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1malignant fibrous histiocubiquitin-associated protein 1nasopharyngeal carcinoma-associated gene 20 protein
Modification date2018051920180523
UniProtAcc

Q9Y4C4

Q9NZ09

Ensembl transtripts involved in fusion geneENST00000276282, ENST00000520091, 
ENST00000536252, ENST00000545103, 
ENST00000540348, ENST00000543944, 
ENST00000297661, ENST00000379186, 
ENST00000359544, 
Fusion gene scores* DoF score4 X 4 X 2=328 X 8 X 4=256
# samples 49
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/256*10)=-1.50814690367033
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MFHAS1 [Title/Abstract] AND UBAP1 [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
ChiTaRS3.1BF354661MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
* 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-3CDSENST00000276282ENST00000536252MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-3CDSENST00000276282ENST00000545103MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-3CDSENST00000276282ENST00000540348MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-3CDSENST00000276282ENST00000543944MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-3CDSENST00000276282ENST00000297661MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-intronENST00000276282ENST00000379186MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-intronENST00000276282ENST00000359544MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-3CDSENST00000520091ENST00000536252MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-3CDSENST00000520091ENST00000545103MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-3CDSENST00000520091ENST00000540348MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-3CDSENST00000520091ENST00000543944MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-3CDSENST00000520091ENST00000297661MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-intronENST00000520091ENST00000379186MFHAS1chr8

8667090

-UBAP1chr9

34249864

+
intron-intronENST00000520091ENST00000359544MFHAS1chr8

8667090

-UBAP1chr9

34249864

+

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FusionProtFeatures for MFHAS1_UBAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MFHAS1

Q9Y4C4

UBAP1

Q9NZ09

Probable GTP-binding protein (PubMed:24286120).Functions in innate immunity and more specifically theinflammatory response as a regulator of the Toll-like receptorTLR2 and TLR4 signaling pathways (PubMed:26599367,PubMed:28471450, PubMed:28609714). Negatively regulates the partof the TLR4 signaling pathway that leads to the activation of thetranscription factor AP-1. By retaining the phosphatase complexPP2A into the cytoplasm, prevents the dephosphorylation of the AP-1 subunit JUN which is required for proper activation of thetranscription factor (PubMed:28609714). Both inhibits andactivates the TLR2-dependent signaling pathway (PubMed:26599367).Positively regulates the TLR2 signaling pathway to activatespecifically the downstream p38 and JNK MAP kinases and promotethe polarization of macrophages toward the pro-inflammatory M1phenotype (PubMed:28471450). It may also play a role in theregulation of inflammation induced by high glucose through thePKB/AKT signaling pathway (PubMed:29168081). Also involved inerythrocyte differentiation through activation of the ERK1/ERK2signaling pathway (PubMed:23327923). {ECO:0000269|PubMed:23327923,ECO:0000269|PubMed:24286120, ECO:0000269|PubMed:26599367,ECO:0000269|PubMed:28471450, ECO:0000269|PubMed:28609714,ECO:0000269|PubMed:29168081}.

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 MFHAS1_UBAP1


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 MFHAS1_UBAP1


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 MFHAS1_UBAP1


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 MFHAS1_UBAP1


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