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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:SNX12-MMP2 (FusionGDB2 ID:84300)

Fusion Gene Summary for SNX12-MMP2

check button Fusion gene summary
Fusion gene informationFusion gene name: SNX12-MMP2
Fusion gene ID: 84300
HgeneTgene
Gene symbol

SNX12

MMP2

Gene ID

29934

4313

Gene namesorting nexin 12matrix metallopeptidase 2
Synonyms-CLG4|CLG4A|MMP-2|MMP-II|MONA|TBE-1
Cytomap

Xq13.1

16q12.2

Type of geneprotein-codingprotein-coding
Descriptionsorting nexin-1272 kDa type IV collagenasecollagenase type IV-Amatrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)matrix metalloproteinase-2matrix metalloproteinase-IIneutrophil gelatinase
Modification date2020031320200329
UniProtAcc.

Q9H239

Ensembl transtripts involved in fusion geneENST00000374274, ENST00000465030, 
ENST00000276105, 		ENST00000570308, 
ENST00000219070, ENST00000543485, 
ENST00000437642, 
Fusion gene scores* DoF score4 X 4 X 2=327 X 7 X 4=196
# samples 47
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SNX12 [Title/Abstract] AND MMP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSNX12(70279597)-MMP2(55525772), # 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
HgeneSNX12

GO:0010955

negative regulation of protein processing

22709416

HgeneSNX12

GO:0042177

negative regulation of protein catabolic process

22719997

HgeneSNX12

GO:0051224

negative regulation of protein transport

22719997

HgeneSNX12

GO:2000642

negative regulation of early endosome to late endosome transport

22719997

TgeneMMP2

GO:0006508

proteolysis

15863497


check buttonFusion gene breakpoints across SNX12 (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 MMP2 (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/ADA812017SNX12chrX

70279597

-MMP2chr16

55525772

+


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Fusion Gene ORF analysis for SNX12-MMP2

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-3CDSENST00000374274ENST00000570308SNX12chrX

70279597

-MMP2chr16

55525772

+
intron-3CDSENST00000374274ENST00000219070SNX12chrX

70279597

-MMP2chr16

55525772

+
intron-3CDSENST00000374274ENST00000543485SNX12chrX

70279597

-MMP2chr16

55525772

+
intron-3CDSENST00000374274ENST00000437642SNX12chrX

70279597

-MMP2chr16

55525772

+
intron-3CDSENST00000465030ENST00000570308SNX12chrX

70279597

-MMP2chr16

55525772

+
intron-3CDSENST00000465030ENST00000219070SNX12chrX

70279597

-MMP2chr16

55525772

+
intron-3CDSENST00000465030ENST00000543485SNX12chrX

70279597

-MMP2chr16

55525772

+
intron-3CDSENST00000465030ENST00000437642SNX12chrX

70279597

-MMP2chr16

55525772

+
intron-3CDSENST00000276105ENST00000570308SNX12chrX

70279597

-MMP2chr16

55525772

+
intron-3CDSENST00000276105ENST00000219070SNX12chrX

70279597

-MMP2chr16

55525772

+
intron-3CDSENST00000276105ENST00000543485SNX12chrX

70279597

-MMP2chr16

55525772

+
intron-3CDSENST00000276105ENST00000437642SNX12chrX

70279597

-MMP2chr16

55525772

+

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 SNX12-MMP2


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 SNX12-MMP2


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
.MMP2

Q9H239

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Can degrade casein. Could play a role in tissues homeostasis and repair.

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 SNX12-MMP2


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 SNX12-MMP2


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 SNX12-MMP2


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 SNX12-MMP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMMP2C0027627Neoplasm Metastasis6CTD_human
TgeneMMP2C0027626Neoplasm Invasiveness4CTD_human
TgeneMMP2C1850155TORG-WINCHESTER SYNDROME3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneMMP2C0006142Malignant neoplasm of breast2CTD_human
TgeneMMP2C0006663Calcinosis2CTD_human
TgeneMMP2C0009402Colorectal Carcinoma2CTD_human;UNIPROT
TgeneMMP2C0009404Colorectal Neoplasms2CTD_human
TgeneMMP2C0023890Liver Cirrhosis2CTD_human
TgeneMMP2C0023893Liver Cirrhosis, Experimental2CTD_human
TgeneMMP2C0027051Myocardial Infarction2CTD_human
TgeneMMP2C0239946Fibrosis, Liver2CTD_human
TgeneMMP2C0263628Tumoral calcinosis2CTD_human
TgeneMMP2C0376634Craniofacial Abnormalities2CTD_human
TgeneMMP2C0521174Microcalcification2CTD_human
TgeneMMP2C0678222Breast Carcinoma2CTD_human
TgeneMMP2C1257931Mammary Neoplasms, Human2CTD_human
TgeneMMP2C1458155Mammary Neoplasms2CTD_human
TgeneMMP2C4704874Mammary Carcinoma, Human2CTD_human
TgeneMMP2C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneMMP2C0002152Alloxan Diabetes1CTD_human
TgeneMMP2C0003493Aortic Diseases1CTD_human
TgeneMMP2C0003496Aortic Rupture1CTD_human
TgeneMMP2C0003873Rheumatoid Arthritis1CTD_human
TgeneMMP2C0005398Cholestasis, Extrahepatic1CTD_human
TgeneMMP2C0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneMMP2C0005695Bladder Neoplasm1CTD_human
TgeneMMP2C0005940Bone Diseases1CTD_human
TgeneMMP2C0005944Metabolic Bone Disorder1CTD_human
TgeneMMP2C0005967Bone neoplasms1CTD_human
TgeneMMP2C0011853Diabetes Mellitus, Experimental1CTD_human
TgeneMMP2C0011882Diabetic Neuropathies1CTD_human
TgeneMMP2C0015934Fetal Growth Retardation1CTD_human
TgeneMMP2C0017636Glioblastoma1CTD_human
TgeneMMP2C0019193Hepatitis, Toxic1CTD_human
TgeneMMP2C0019207Hepatoma, Morris1CTD_human
TgeneMMP2C0019208Hepatoma, Novikoff1CTD_human
TgeneMMP2C0020538Hypertensive disease1CTD_human
TgeneMMP2C0021368Inflammation1CTD_human
TgeneMMP2C0022682Kienbock Disease1CTD_human
TgeneMMP2C0023283Leishmaniasis, Cutaneous1CTD_human
TgeneMMP2C0023891Liver Cirrhosis, Alcoholic1CTD_human
TgeneMMP2C0023904Liver Neoplasms, Experimental1CTD_human
TgeneMMP2C0024143Lupus Nephritis1CTD_human
TgeneMMP2C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneMMP2C0024689Mandibular Diseases1CTD_human
TgeneMMP2C0024796Marfan Syndrome1CTD_human
TgeneMMP2C0024950Maxillary Diseases1CTD_human
TgeneMMP2C0027439Nasopharyngeal Neoplasms1CTD_human
TgeneMMP2C0027543Avascular necrosis of bone1CTD_human
TgeneMMP2C0028433Nose Neoplasms1CTD_human
TgeneMMP2C0029172Oral Submucous Fibrosis1CTD_human
TgeneMMP2C0029445Bone necrosis1CTD_human
TgeneMMP2C0029453Osteopenia1CTD_human
TgeneMMP2C0029463Osteosarcoma1CTD_human
TgeneMMP2C0030297Pancreatic Neoplasm1CTD_human
TgeneMMP2C0034067Pulmonary Emphysema1CTD_human
TgeneMMP2C0034069Pulmonary Fibrosis1CTD_human
TgeneMMP2C0038433Streptozotocin Diabetes1CTD_human
TgeneMMP2C0043094Weight Gain1CTD_human
TgeneMMP2C0085762Alcohol abuse1PSYGENET
TgeneMMP2C0086404Experimental Hepatoma1CTD_human
TgeneMMP2C0086540Leishmaniasis, New World1CTD_human
TgeneMMP2C0086541Urban cutaneous leishmaniasis1CTD_human
TgeneMMP2C0162872Aortic Aneurysm, Thoracic1CTD_human
TgeneMMP2C0221227Centriacinar Emphysema1CTD_human
TgeneMMP2C0235874Disease Exacerbation1CTD_human
TgeneMMP2C0238301Cancer of Nasopharynx1CTD_human
TgeneMMP2C0264393Panacinar Emphysema1CTD_human
TgeneMMP2C0271673Symmetric Diabetic Proximal Motor Neuropathy1CTD_human
TgeneMMP2C0271674Asymmetric Diabetic Proximal Motor Neuropathy1CTD_human
TgeneMMP2C0271678Diabetic Mononeuropathy1CTD_human
TgeneMMP2C0271680Diabetic Polyneuropathies1CTD_human
TgeneMMP2C0271685Diabetic Amyotrophy1CTD_human
TgeneMMP2C0271686Diabetic Autonomic Neuropathy1CTD_human
TgeneMMP2C0279530Malignant Bone Neoplasm1CTD_human
TgeneMMP2C0334588Giant Cell Glioblastoma1CTD_human
TgeneMMP2C0340630Aortic Aneurysm, Thoracoabdominal1CTD_human
TgeneMMP2C0346647Malignant neoplasm of pancreas1CTD_human
TgeneMMP2C0393835Diabetic Asymmetric Polyneuropathy1CTD_human
TgeneMMP2C0520474Aseptic Necrosis of Bone1CTD_human
TgeneMMP2C0741160Aortic Aneurysm, Ruptured1CTD_human
TgeneMMP2C0751074Diabetic Neuralgia1CTD_human
TgeneMMP2C0751394Cancer of Nose1CTD_human
TgeneMMP2C0860207Drug-Induced Liver Disease1CTD_human
TgeneMMP2C1262760Hepatitis, Drug-Induced1CTD_human
TgeneMMP2C1336708Testicular Germ Cell Tumor1CTD_human
TgeneMMP2C1621958Glioblastoma Multiforme1CTD_human
TgeneMMP2C2239176Liver carcinoma1CTD_human
TgeneMMP2C2350878Focal Emphysema1CTD_human
TgeneMMP2C2931822Nasopharyngeal carcinoma1CTD_human
TgeneMMP2C2936380Neointima1CTD_human
TgeneMMP2C2936381Neointima Formation1CTD_human
TgeneMMP2C2937358Cerebral Hemorrhage1CTD_human
TgeneMMP2C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneMMP2C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneMMP2C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneMMP2C4721507Alveolitis, Fibrosing1CTD_human
TgeneMMP2C4721845Marfan Syndrome, Type I1CTD_human