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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: 4227

FusionGeneSummary for BMP1_MALL

check button Fusion gene summary
Fusion gene informationFusion gene name: BMP1_MALL
Fusion gene ID: 4227
HgeneTgene
Gene symbol

BMP1

MALL

Gene ID

649

7851

Gene namebone morphogenetic protein 1mal, T cell differentiation protein like
SynonymsOI13|PCOLC|PCP|PCP2|TLDBENE
Cytomap

8p21.3

2q13

Type of geneprotein-codingprotein-coding
Descriptionbone morphogenetic protein 1mammalian tolloid proteinprocollagen C-endopeptidaseprocollagen C-proteinase 3MAL-like protein
Modification date2018051920180523
UniProtAcc

P13497

Q13021

Ensembl transtripts involved in fusion geneENST00000306385, ENST00000354870, 
ENST00000397816, ENST00000306349, 
ENST00000397814, ENST00000523849, 
ENST00000272462, ENST00000427178, 
Fusion gene scores* DoF score3 X 3 X 2=184 X 4 X 2=32
# samples 34
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BMP1 [Title/Abstract] AND MALL [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
HgeneBMP1

GO:0006508

proteolysis

16824737

HgeneBMP1

GO:0061036

positive regulation of cartilage development

3201241


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
ChiTaRS3.1BF737796BMP1chr8

22037967

-MALLchr2

110841958

+
* 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
5CDS-3UTRENST00000306385ENST00000272462BMP1chr8

22037967

-MALLchr2

110841958

+
5CDS-intronENST00000306385ENST00000427178BMP1chr8

22037967

-MALLchr2

110841958

+
3UTR-3UTRENST00000354870ENST00000272462BMP1chr8

22037967

-MALLchr2

110841958

+
3UTR-intronENST00000354870ENST00000427178BMP1chr8

22037967

-MALLchr2

110841958

+
5CDS-3UTRENST00000397816ENST00000272462BMP1chr8

22037967

-MALLchr2

110841958

+
5CDS-intronENST00000397816ENST00000427178BMP1chr8

22037967

-MALLchr2

110841958

+
5CDS-3UTRENST00000306349ENST00000272462BMP1chr8

22037967

-MALLchr2

110841958

+
5CDS-intronENST00000306349ENST00000427178BMP1chr8

22037967

-MALLchr2

110841958

+
5CDS-3UTRENST00000397814ENST00000272462BMP1chr8

22037967

-MALLchr2

110841958

+
5CDS-intronENST00000397814ENST00000427178BMP1chr8

22037967

-MALLchr2

110841958

+
intron-3UTRENST00000523849ENST00000272462BMP1chr8

22037967

-MALLchr2

110841958

+
intron-intronENST00000523849ENST00000427178BMP1chr8

22037967

-MALLchr2

110841958

+

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FusionProtFeatures for BMP1_MALL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BMP1

P13497

MALL

Q13021


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 BMP1_MALL


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 BMP1_MALL


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 BMP1_MALL


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 BMP1_MALL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBMP1C3553887OSTEOGENESIS IMPERFECTA, TYPE XIII3UNIPROT