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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:MMP1-CREM (FusionGDB2 ID:54070)

Fusion Gene Summary for MMP1-CREM

check button Fusion gene summary
Fusion gene informationFusion gene name: MMP1-CREM
Fusion gene ID: 54070
HgeneTgene
Gene symbol

MMP1

CREM

Gene ID

4312

1390

Gene namematrix metallopeptidase 1cAMP responsive element modulator
SynonymsCLG|CLGNCREM-2|ICER|hCREM-2
Cytomap

11q22.2

10p11.21

Type of geneprotein-codingprotein-coding
Descriptioninterstitial collagenasefibroblast collagenasematrix metallopeptidase 1 (interstitial collagenase)matrix metalloprotease 1matrix metalloproteinase 1cAMP-responsive element modulatorCREM 2alpha-b proteinCREM 2beta-a proteincAMP response element modulatorinducible cAMP early repressor ICER
Modification date2020031320200313
UniProtAcc

P03956

Q03060

Ensembl transtripts involved in fusion geneENST00000315274, ENST00000474362, 
ENST00000374721, ENST00000489388, 
ENST00000374726, ENST00000429130, 
ENST00000469949, ENST00000460270, 
ENST00000354759, ENST00000489321, 
ENST00000395895, ENST00000374728, 
ENST00000345491, ENST00000333809, 
ENST00000439705, ENST00000337656, 
ENST00000374734, ENST00000479070, 
ENST00000348787, ENST00000361599, 
ENST00000484283, ENST00000395887, 
ENST00000463314, ENST00000342105, 
ENST00000463960, ENST00000487763, 
ENST00000473940, ENST00000488328, 
ENST00000356917, ENST00000488741, 
ENST00000474931, ENST00000468236, 
ENST00000344351, ENST00000490511, 
Fusion gene scores* DoF score2 X 2 X 2=812 X 12 X 7=1008
# samples 212
** MAII scorelog2(2/8*10)=1.32192809488736log2(12/1008*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MMP1 [Title/Abstract] AND CREM [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMMP1(102662389)-CREM(35500631), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneMMP1

GO:0006508

proteolysis

15863497|19022250

HgeneMMP1

GO:0031334

positive regulation of protein complex assembly

19022250

TgeneCREM

GO:0006355

regulation of transcription, DNA-templated

8206879


check buttonFusion gene breakpoints across MMP1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CREM (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ACV379432MMP1chr11

102662389

-CREMchr10

35500631

+


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Fusion Gene ORF analysis for MMP1-CREM

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-3CDSENST00000315274ENST00000474362MMP1chr11

102662389

-CREMchr10

35500631

+
intron-3UTRENST00000315274ENST00000374721MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000489388MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000374726MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000429130MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000469949MMP1chr11

102662389

-CREMchr10

35500631

+
intron-3UTRENST00000315274ENST00000460270MMP1chr11

102662389

-CREMchr10

35500631

+
intron-3UTRENST00000315274ENST00000354759MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000489321MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000395895MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000374728MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000345491MMP1chr11

102662389

-CREMchr10

35500631

+
intron-3UTRENST00000315274ENST00000333809MMP1chr11

102662389

-CREMchr10

35500631

+
intron-3UTRENST00000315274ENST00000439705MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000337656MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000374734MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000479070MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000348787MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000361599MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000484283MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000395887MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000463314MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000342105MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000463960MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000487763MMP1chr11

102662389

-CREMchr10

35500631

+
intron-3UTRENST00000315274ENST00000473940MMP1chr11

102662389

-CREMchr10

35500631

+
intron-3UTRENST00000315274ENST00000488328MMP1chr11

102662389

-CREMchr10

35500631

+
intron-3UTRENST00000315274ENST00000356917MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000488741MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000474931MMP1chr11

102662389

-CREMchr10

35500631

+
intron-intronENST00000315274ENST00000468236MMP1chr11

102662389

-CREMchr10

35500631

+
intron-3UTRENST00000315274ENST00000344351MMP1chr11

102662389

-CREMchr10

35500631

+
intron-3UTRENST00000315274ENST00000490511MMP1chr11

102662389

-CREMchr10

35500631

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for MMP1-CREM


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for MMP1-CREM


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MMP1

P03956

CREM

Q03060

FUNCTION: Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X (PubMed:2557822, PubMed:2153297, PubMed:1645757). In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tat's mediated neurotoxicity (PubMed:16807369). {ECO:0000269|PubMed:1645757, ECO:0000269|PubMed:16807369, ECO:0000269|PubMed:2153297, ECO:0000269|PubMed:2557822}.FUNCTION: Transcriptional regulator that binds the cAMP response element (CRE), a sequence present in many viral and cellular promoters. Isoforms are either transcriptional activators or repressors. Plays a role in spermatogenesis and is involved in spermatid maturation (PubMed:10373550). {ECO:0000269|PubMed:10373550}.; FUNCTION: [Isoform 6]: May play a role in the regulation of the circadian clock: acts as a transcriptional repressor of the core circadian component PER1 by directly binding to cAMP response elements in its promoter. {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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Fusion Gene Sequence for MMP1-CREM


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for MMP1-CREM


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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Related Drugs for MMP1-CREM


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for MMP1-CREM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMMP1C0027627Neoplasm Metastasis4CTD_human
HgeneMMP1C0002940Aneurysm1CTD_human
HgeneMMP1C0004096Asthma1CTD_human
HgeneMMP1C0004153Atherosclerosis1CTD_human
HgeneMMP1C0006142Malignant neoplasm of breast1CTD_human
HgeneMMP1C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneMMP1C0009402Colorectal Carcinoma1CTD_human
HgeneMMP1C0009404Colorectal Neoplasms1CTD_human
HgeneMMP1C0017614Glaucoma, Suspect1CTD_human
HgeneMMP1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneMMP1C0024121Lung Neoplasms1CTD_human
HgeneMMP1C0027626Neoplasm Invasiveness1CTD_human
HgeneMMP1C0028840Ocular Hypertension1CTD_human
HgeneMMP1C0029172Oral Submucous Fibrosis1CTD_human
HgeneMMP1C0242379Malignant neoplasm of lung1CTD_human
HgeneMMP1C0333099Fusiform Aneurysm1CTD_human
HgeneMMP1C0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneMMP1C0678222Breast Carcinoma1CTD_human
HgeneMMP1C1257931Mammary Neoplasms, Human1CTD_human
HgeneMMP1C1458155Mammary Neoplasms1CTD_human
HgeneMMP1C1563937Atherogenesis1CTD_human
HgeneMMP1C2713497Saccular Aneurysm1CTD_human
HgeneMMP1C3241937Nonalcoholic Steatohepatitis1CTD_human
HgeneMMP1C4704874Mammary Carcinoma, Human1CTD_human
TgeneCREMC0011875Diabetic Angiopathies1CTD_human
TgeneCREMC0020564Hypertrophy1CTD_human
TgeneCREMC0025945Microangiopathy, Diabetic1CTD_human
TgeneCREMC0027051Myocardial Infarction1CTD_human
TgeneCREMC0087031Juvenile-Onset Still Disease1CTD_human
TgeneCREMC0162820Dermatitis, Allergic Contact1CTD_human
TgeneCREMC0263454Chloracne1CTD_human
TgeneCREMC3495559Juvenile arthritis1CTD_human
TgeneCREMC3714758Juvenile psoriatic arthritis1CTD_human
TgeneCREMC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneCREMC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human