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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:FDX1-SPP1 (FusionGDB2 ID:HG2230TG6696)

Fusion Gene Summary for FDX1-SPP1

check button Fusion gene summary
Fusion gene informationFusion gene name: FDX1-SPP1
Fusion gene ID: hg2230tg6696
HgeneTgene
Gene symbol

FDX1

SPP1

Gene ID

2230

6696

Gene nameferredoxin 1secreted phosphoprotein 1
SynonymsADX|FDX|LOH11CR1DBNSP|BSPI|ETA-1|OPN
Cytomap('FDX1')('SPP1')

11q22.3

4q22.1

Type of geneprotein-codingprotein-coding
Descriptionadrenodoxin, mitochondrialadrenal ferredoxinhepatoredoxinmitochondrial adrenodoxinosteopontinSPP1/CALPHA1 fusionearly T-lymphocyte activation 1nephropontinosteopontin/immunoglobulin alpha 1 heavy chain constant region fusion proteinsecreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)secret
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000260270, 
Fusion gene scores* DoF score6 X 6 X 4=1449 X 10 X 3=270
# samples 611
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/270*10)=-1.29545588352617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FDX1 [Title/Abstract] AND SPP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFDX1(110300919)-SPP1(88903864), # samples:1
Anticipated loss of major functional domain due to fusion event.FDX1-SPP1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
FDX1-SPP1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
FDX1-SPP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
FDX1-SPP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
FDX1-SPP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneFDX1

GO:0008203

cholesterol metabolic process

21636783

HgeneFDX1

GO:0042446

hormone biosynthetic process

21636783

TgeneSPP1

GO:0006710

androgen catabolic process

26482249

TgeneSPP1

GO:0007155

cell adhesion

25839998

TgeneSPP1

GO:0033280

response to vitamin D

16720713

TgeneSPP1

GO:0045893

positive regulation of transcription, DNA-templated

26482249

TgeneSPP1

GO:0071394

cellular response to testosterone stimulus

26482249

TgeneSPP1

GO:2000866

positive regulation of estradiol secretion

26482249


check buttonFusion gene breakpoints across FDX1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across SPP1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4STADTCGA-BR-A44T-01AFDX1chr11

110300919

+SPP1chr4

88903864

+


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Fusion Gene ORF analysis for FDX1-SPP1

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-3UTRENST00000260270ENST00000509659FDX1chr11

110300919

+SPP1chr4

88903864

+
Frame-shiftENST00000260270ENST00000360804FDX1chr11

110300919

+SPP1chr4

88903864

+
Frame-shiftENST00000260270ENST00000395080FDX1chr11

110300919

+SPP1chr4

88903864

+
In-frameENST00000260270ENST00000237623FDX1chr11

110300919

+SPP1chr4

88903864

+

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)
ENST00000260270FDX1chr11110300919+ENST00000237623SPP1chr488903864+808110260087

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
ENST00000260270ENST00000237623FDX1chr11110300919+SPP1chr488903864+0.93979370.0602063

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Fusion Genomic Features for FDX1-SPP1


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.
genomic feature

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Fusion Protein Features for FDX1-SPP1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:110300919/chr4:88903864)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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
TgeneSPP1chr11:110300919chr4:88903864ENST0000023762306159_1610301.0MotifNote=Cell attachment site
TgeneSPP1chr11:110300919chr4:88903864ENST0000036080406159_1610288.0MotifNote=Cell attachment site
TgeneSPP1chr11:110300919chr4:88903864ENST0000039508007159_1610315.0MotifNote=Cell attachment site

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFDX1chr11:110300919chr4:88903864ENST00000260270+1467_1710185.0Domain2Fe-2S ferredoxin-type


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Fusion Gene Sequence for FDX1-SPP1


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.
>30067_30067_1_FDX1-SPP1_FDX1_chr11_110300919_ENST00000260270_SPP1_chr4_88903864_ENST00000237623_length(transcript)=808nt_BP=110nt
CACCACGCTGGGTCCCGCGCTGGATCCAGCGGCCTGCTGAGGAACCGGGGGCCGGGCGGGAGCGCGGAGGCGAGCCGGTCGCTGAGCGTG
TCGGCGCGGGCCCGGAGCAGCAATGAGCATTCCGATGTGATTGATAGTCAGGAACTTTCCAAAGTCAGCCGTGAATTCCACAGCCATGAA
TTTCACAGCCATGAAGATATGCTGGTTGTAGACCCCAAAAGTAAGGAAGAAGATAAACACCTGAAATTTCGTATTTCTCATGAATTAGAT
AGTGCATCTTCTGAGGTCAATTAAAAGGAGAAAAAATACAATTTCTCACTTTGCATTTAGTCAAAAGAAAAAATGCTTTATAGCAAAATG
AAAGAGAACATGAAATGCTTCTTTCTCAGTTTATTGGTTGAATGTGTATCTATTTGAGTCTGGAAATAACTAATGTGTTTGATAATTAGT
TTAGTTTGTGGCTTCATGGAAACTCCCTGTAAACTAAAAGCTTCAGGGTTATGTCTATGTTCATTCTATAGAAGAAATGCAAACTATCAC
TGTATTTTAATATTTGTTATTCTCTCATGAATAGAAATTTATGTAGAAGCAAACAAAATACTTTTACCCACTTAAAAAGAGAATATAACA
TTTTATGTCACTATAATCTTTTGTTTTTTAAGTTAGTGTATATTTTGTTGTGATTATCTTTTTGTGGTGTGAATAAATCTTTTATCTTGA
ATGTAATAAGAATTTGGTGGTGTCAATTGCTTATTTGTTTTCCCACGGTTGTCCAGCAATTAATAAAACATAACCTTTTTTACTGCCT

>30067_30067_1_FDX1-SPP1_FDX1_chr11_110300919_ENST00000260270_SPP1_chr4_88903864_ENST00000237623_length(amino acids)=87AA_BP=0
MRNTKFQVFIFFLTFGVYNQHIFMAVKFMAVEFTADFGKFLTINHIGMLIAAPGPRRHAQRPARLRAPARPPVPQQAAGSSAGPSVV

--------------------------------------------------------------

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Fusion Gene PPI Analysis for FDX1-SPP1


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 FDX1-SPP1


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 FDX1-SPP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0024141Lupus Erythematosus, Systemic5ORPHANET
TgeneC0001418Adenocarcinoma2CTD_human
TgeneC0003949Asbestosis2CTD_human
TgeneC0006142Malignant neoplasm of breast2CTD_human
TgeneC0006663Calcinosis2CTD_human
TgeneC0022650Kidney Calculi2CTD_human
TgeneC0022660Kidney Failure, Acute2CTD_human
TgeneC0024121Lung Neoplasms2CTD_human
TgeneC0025500Mesothelioma2CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell2CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic2CTD_human
TgeneC0205643Carcinoma, Cribriform2CTD_human
TgeneC0205644Carcinoma, Granular Cell2CTD_human
TgeneC0205645Adenocarcinoma, Tubular2CTD_human
TgeneC0242379Malignant neoplasm of lung2CTD_human
TgeneC0263628Tumoral calcinosis2CTD_human
TgeneC0521174Microcalcification2CTD_human
TgeneC0678222Breast Carcinoma2CTD_human
TgeneC1257931Mammary Neoplasms, Human2CTD_human
TgeneC1458155Mammary Neoplasms2CTD_human
TgeneC1565662Acute Kidney Insufficiency2CTD_human
TgeneC2609414Acute kidney injury2CTD_human
TgeneC2930617Pulmonary Fibrosis - from Asbestos Exposure2CTD_human
TgeneC4704874Mammary Carcinoma, Human2CTD_human
TgeneC0006118Brain Neoplasms1CTD_human
TgeneC0007282Carotid Stenosis1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0017638Glioma1CTD_human
TgeneC0017668Focal glomerulosclerosis1CTD_human
TgeneC0018799Heart Diseases1CTD_human
TgeneC0018824Heart valve disease1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0019207Hepatoma, Morris1CTD_human
TgeneC0019208Hepatoma, Novikoff1CTD_human
TgeneC0020517Hypersensitivity1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0023890Liver Cirrhosis1CTD_human
TgeneC0023896Alcoholic Liver Diseases1CTD_human
TgeneC0023904Liver Neoplasms, Experimental1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027659Neoplasms, Experimental1CTD_human
TgeneC0030286Pancreatic Diseases1CTD_human
TgeneC0032229Pleural Neoplasms1CTD_human
TgeneC0032285Pneumonia1CTD_human
TgeneC0032300Lobar Pneumonia1CTD_human
TgeneC0033687Proteinuria1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0041948Uremia1CTD_human
TgeneC0086404Experimental Hepatoma1CTD_human
TgeneC0086432Hyalinosis, Segmental Glomerular1CTD_human
TgeneC0153633Malignant neoplasm of brain1CTD_human
TgeneC0162820Dermatitis, Allergic Contact1CTD_human
TgeneC0239946Fibrosis, Liver1CTD_human
TgeneC0259783mixed gliomas1CTD_human
TgeneC0270612Leukoencephalopathy1CTD_human
TgeneC0340569Internal Carotid Artery Stenosis1CTD_human
TgeneC0496899Benign neoplasm of brain, unspecified1CTD_human
TgeneC0555198Malignant Glioma1CTD_human
TgeneC0750974Brain Tumor, Primary1CTD_human
TgeneC0750977Recurrent Brain Neoplasm1CTD_human
TgeneC0750979Primary malignant neoplasm of brain1CTD_human
TgeneC0751633Carotid Artery Plaque1CTD_human
TgeneC0751634Carotid Ulcer1CTD_human
TgeneC0751635Common Carotid Artery Stenosis1CTD_human
TgeneC0751636External Carotid Artery Stenosis1CTD_human
TgeneC0853897Diabetic Cardiomyopathies1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC0887898Experimental Lung Inflammation1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1527304Allergic Reaction1CTD_human
TgeneC1527390Neoplasms, Intracranial1CTD_human
TgeneC1858991Childhood Ataxia with Central Nervous System Hypomyelinization1CTD_human
TgeneC2937358Cerebral Hemorrhage1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC3714636Pneumonitis1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4721411Osteolysis1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human