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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:NDUFS1-BRCA1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NDUFS1-BRCA1
FusionPDB ID: 58219
FusionGDB2.0 ID: 58219
HgeneTgene
Gene symbol

NDUFS1

BRCA1

Gene ID

4719

672

Gene nameNADH:ubiquinone oxidoreductase core subunit S1BRCA1 DNA repair associated
SynonymsCI-75Kd|CI-75k|MC1DN5|PRO1304BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53
Cytomap

2q33.3

17q21.31

Type of geneprotein-codingprotein-coding
DescriptionNADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrialNADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)complex I 75kDa subunitcomplex I, mitochondrial respiratory chain, 75-kD subunitmitochondrial NADH-ubiquinone breast cancer type 1 susceptibility proteinBRCA1/BRCA2-containing complex, subunit 1Fanconi anemia, complementation group SRING finger protein 53breast and ovarian cancer susceptibility protein 1breast cancer 1, early onsetearly onset breast cancer
Modification date2020031320200329
UniProtAcc

P28331

UIMC1

Ensembl transtripts involved in fusion geneENST idsENST00000233190, ENST00000432169, 
ENST00000440274, ENST00000449699, 
ENST00000455934, ENST00000423725, 
ENST00000457011, 
ENST00000471181, 
ENST00000491747, ENST00000493795, 
ENST00000586385, ENST00000591849, 
ENST00000309486, ENST00000346315, 
ENST00000351666, ENST00000352993, 
ENST00000354071, ENST00000357654, 
ENST00000468300, ENST00000591534, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 7 X 3=1687 X 6 X 6=252
# samples 87
** MAII scorelog2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/252*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NDUFS1 [Title/Abstract] AND BRCA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NDUFS1(207018341)-BRCA1(41209152), # samples:1
Anticipated loss of major functional domain due to fusion event.NDUFS1-BRCA1 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.
NDUFS1-BRCA1 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.
NDUFS1-BRCA1 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.
NDUFS1-BRCA1 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.
NDUFS1-BRCA1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
NDUFS1-BRCA1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
NDUFS1-BRCA1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
NDUFS1-BRCA1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneNDUFS1

GO:0008637

apoptotic mitochondrial changes

15186778

TgeneBRCA1

GO:0000724

double-strand break repair via homologous recombination

17349954

TgeneBRCA1

GO:0006301

postreplication repair

17349954

TgeneBRCA1

GO:0006302

double-strand break repair

22186889

TgeneBRCA1

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

14654789

TgeneBRCA1

GO:0016567

protein ubiquitination

17349954

TgeneBRCA1

GO:0031398

positive regulation of protein ubiquitination

15965487

TgeneBRCA1

GO:0035066

positive regulation of histone acetylation

20820192

TgeneBRCA1

GO:0043627

response to estrogen

8895509

TgeneBRCA1

GO:0045892

negative regulation of transcription, DNA-templated

16288014

TgeneBRCA1

GO:0045893

positive regulation of transcription, DNA-templated

20160719

TgeneBRCA1

GO:0045944

positive regulation of transcription by RNA polymerase II

16331276

TgeneBRCA1

GO:0051571

positive regulation of histone H3-K4 methylation

20820192

TgeneBRCA1

GO:0051573

negative regulation of histone H3-K9 methylation

20820192

TgeneBRCA1

GO:0051865

protein autoubiquitination

12890688|20351172

TgeneBRCA1

GO:0070512

positive regulation of histone H4-K20 methylation

20820192

TgeneBRCA1

GO:0071158

positive regulation of cell cycle arrest

21102443

TgeneBRCA1

GO:0071681

cellular response to indole-3-methanol

10868478

TgeneBRCA1

GO:0085020

protein K6-linked ubiquitination

12890688|20351172

TgeneBRCA1

GO:2000617

positive regulation of histone H3-K9 acetylation

20820192

TgeneBRCA1

GO:2000620

positive regulation of histone H4-K16 acetylation

20820192


check buttonFusion gene breakpoints across NDUFS1 (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 BRCA1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4HNSCTCGA-CN-4735NDUFS1chr2

207018341

-BRCA1chr17

41209152

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000449699NDUFS1chr2207018341-ENST00000357654BRCA1chr1741209152-1946164697359112
ENST00000449699NDUFS1chr2207018341-ENST00000351666BRCA1chr1741209152-1945164697359112
ENST00000449699NDUFS1chr2207018341-ENST00000309486BRCA1chr1741209152-1945164697359112
ENST00000449699NDUFS1chr2207018341-ENST00000346315BRCA1chr1741209152-1945164697359112
ENST00000449699NDUFS1chr2207018341-ENST00000354071BRCA1chr1741209152-1945164697359112
ENST00000449699NDUFS1chr2207018341-ENST00000352993BRCA1chr1741209152-1945164697359112
ENST00000449699NDUFS1chr2207018341-ENST00000468300BRCA1chr1741209152-1362164623285112
ENST00000449699NDUFS1chr2207018341-ENST00000591534BRCA1chr1741209152-67816465535998

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
ENST00000449699ENST00000357654NDUFS1chr2207018341-BRCA1chr1741209152-0.611301060.3886989
ENST00000449699ENST00000351666NDUFS1chr2207018341-BRCA1chr1741209152-0.60608190.3939181
ENST00000449699ENST00000309486NDUFS1chr2207018341-BRCA1chr1741209152-0.60608190.3939181
ENST00000449699ENST00000346315NDUFS1chr2207018341-BRCA1chr1741209152-0.60608190.3939181
ENST00000449699ENST00000354071NDUFS1chr2207018341-BRCA1chr1741209152-0.60608190.3939181
ENST00000449699ENST00000352993NDUFS1chr2207018341-BRCA1chr1741209152-0.60608190.3939181
ENST00000449699ENST00000468300NDUFS1chr2207018341-BRCA1chr1741209152-0.76656880.23343128
ENST00000449699ENST00000591534NDUFS1chr2207018341-BRCA1chr1741209152-0.378391440.6216085

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>58219_58219_1_NDUFS1-BRCA1_NDUFS1_chr2_207018341_ENST00000449699_BRCA1_chr17_41209152_ENST00000309486_length(amino acids)=112AA_BP=
MMYIKYLVARTVEGLKSERSSQGLERPLCKLILGVLWLCTCGWLQSVVAVGDLGYQVGVQLLALVECYTVQHPLSGHHRCLTHLPNCMEA

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

>58219_58219_2_NDUFS1-BRCA1_NDUFS1_chr2_207018341_ENST00000449699_BRCA1_chr17_41209152_ENST00000346315_length(amino acids)=112AA_BP=
MMYIKYLVARTVEGLKSERSSQGLERPLCKLILGVLWLCTCGWLQSVVAVGDLGYQVGVQLLALVECYTVQHPLSGHHRCLTHLPNCMEA

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

>58219_58219_3_NDUFS1-BRCA1_NDUFS1_chr2_207018341_ENST00000449699_BRCA1_chr17_41209152_ENST00000351666_length(amino acids)=112AA_BP=
MMYIKYLVARTVEGLKSERSSQGLERPLCKLILGVLWLCTCGWLQSVVAVGDLGYQVGVQLLALVECYTVQHPLSGHHRCLTHLPNCMEA

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

>58219_58219_4_NDUFS1-BRCA1_NDUFS1_chr2_207018341_ENST00000449699_BRCA1_chr17_41209152_ENST00000352993_length(amino acids)=112AA_BP=
MMYIKYLVARTVEGLKSERSSQGLERPLCKLILGVLWLCTCGWLQSVVAVGDLGYQVGVQLLALVECYTVQHPLSGHHRCLTHLPNCMEA

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

>58219_58219_5_NDUFS1-BRCA1_NDUFS1_chr2_207018341_ENST00000449699_BRCA1_chr17_41209152_ENST00000354071_length(amino acids)=112AA_BP=
MMYIKYLVARTVEGLKSERSSQGLERPLCKLILGVLWLCTCGWLQSVVAVGDLGYQVGVQLLALVECYTVQHPLSGHHRCLTHLPNCMEA

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

>58219_58219_6_NDUFS1-BRCA1_NDUFS1_chr2_207018341_ENST00000449699_BRCA1_chr17_41209152_ENST00000357654_length(amino acids)=112AA_BP=
MMYIKYLVARTVEGLKSERSSQGLERPLCKLILGVLWLCTCGWLQSVVAVGDLGYQVGVQLLALVECYTVQHPLSGHHRCLTHLPNCMEA

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

>58219_58219_7_NDUFS1-BRCA1_NDUFS1_chr2_207018341_ENST00000449699_BRCA1_chr17_41209152_ENST00000468300_length(amino acids)=112AA_BP=
MMYIKYLVARTVEGLKSERSSQGLERPLCKLILGVLWLCTCGWLQSVVAVGDLGYQVGVQLLALVECYTVQHPLSGHHRCLTHLPNCMEA

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

>58219_58219_8_NDUFS1-BRCA1_NDUFS1_chr2_207018341_ENST00000449699_BRCA1_chr17_41209152_ENST00000591534_length(amino acids)=98AA_BP=
MKSERSSQGLERPLCKLILGVLWLCTCGWLQSVVAVGDLGYQVGVQLLALVECYTVQHPLSGHHRCLTHLPNCMEAIVLCPGIWLHNHNW

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

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Fusion Protein Functional Features


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/chr2:207018341/chr17:41209152)
- 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
NDUFS1

P28331

BRCA1

UIMC1

FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:30879903, PubMed:31557978). Essential for catalysing the entry and efficient transfer of electrons within complex I (PubMed:31557978). Plays a key role in the assembly and stability of complex I and participates in the association of complex I with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes (PubMed:30879903, PubMed:31557978). {ECO:0000269|PubMed:30879903, ECO:0000269|PubMed:31557978}.719

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneBRCA1chr2:207018341chr17:41209152ENST000003529931622651_654589.0722.0Compositional biasNote=Poly-Lys
TgeneBRCA1chr2:207018341chr17:41209152ENST000004683001722651_654627.0700.0Compositional biasNote=Poly-Lys
TgeneBRCA1chr2:207018341chr17:41209152ENST000004917471723651_654627.0760.0Compositional biasNote=Poly-Lys
TgeneBRCA1chr2:207018341chr17:41209152ENST0000035299316221642_1736589.0722.0DomainBRCT 1
TgeneBRCA1chr2:207018341chr17:41209152ENST0000035299316221756_1855589.0722.0DomainBRCT 2
TgeneBRCA1chr2:207018341chr17:41209152ENST0000035765417231756_18551731.01864.0DomainBRCT 2
TgeneBRCA1chr2:207018341chr17:41209152ENST0000046830017221642_1736627.0700.0DomainBRCT 1
TgeneBRCA1chr2:207018341chr17:41209152ENST0000046830017221756_1855627.0700.0DomainBRCT 2
TgeneBRCA1chr2:207018341chr17:41209152ENST0000049174717231642_1736627.0760.0DomainBRCT 1
TgeneBRCA1chr2:207018341chr17:41209152ENST0000049174717231756_1855627.0760.0DomainBRCT 2

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000233190-219108_14720.333333333333332728.0Domain4Fe-4S His(Cys)3-ligated-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000233190-219245_30120.333333333333332728.0Domain4Fe-4S Mo/W bis-MGD-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000233190-21930_10820.333333333333332728.0Domain2Fe-2S ferredoxin-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000423725-218108_1470671.0Domain4Fe-4S His(Cys)3-ligated-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000423725-218245_3010671.0Domain4Fe-4S Mo/W bis-MGD-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000423725-21830_1080671.0Domain2Fe-2S ferredoxin-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000432169-216108_1471.6666666666666667617.0Domain4Fe-4S His(Cys)3-ligated-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000432169-216245_3011.6666666666666667617.0Domain4Fe-4S Mo/W bis-MGD-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000432169-21630_1081.6666666666666667617.0Domain2Fe-2S ferredoxin-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000440274-218108_14720.333333333333332692.0Domain4Fe-4S His(Cys)3-ligated-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000440274-218245_30120.333333333333332692.0Domain4Fe-4S Mo/W bis-MGD-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000440274-21830_10820.333333333333332692.0Domain2Fe-2S ferredoxin-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000449699-219108_14720.333333333333332728.0Domain4Fe-4S His(Cys)3-ligated-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000449699-219245_30120.333333333333332728.0Domain4Fe-4S Mo/W bis-MGD-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000449699-21930_10820.333333333333332728.0Domain2Fe-2S ferredoxin-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000455934-219108_14734.333333333333336742.0Domain4Fe-4S His(Cys)3-ligated-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000455934-219245_30134.333333333333336742.0Domain4Fe-4S Mo/W bis-MGD-type
HgeneNDUFS1chr2:207018341chr17:41209152ENST00000455934-21930_10834.333333333333336742.0Domain2Fe-2S ferredoxin-type
TgeneBRCA1chr2:207018341chr17:41209152ENST000003576541723651_6541731.01864.0Compositional biasNote=Poly-Lys
TgeneBRCA1chr2:207018341chr17:41209152ENST0000035765417231642_17361731.01864.0DomainBRCT 1
TgeneBRCA1chr2:207018341chr17:41209152ENST00000352993162224_65589.0722.0Zinc fingerRING-type
TgeneBRCA1chr2:207018341chr17:41209152ENST00000357654172324_651731.01864.0Zinc fingerRING-type
TgeneBRCA1chr2:207018341chr17:41209152ENST00000468300172224_65627.0700.0Zinc fingerRING-type
TgeneBRCA1chr2:207018341chr17:41209152ENST00000491747172324_65627.0760.0Zinc fingerRING-type


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
NDUFS1
BRCA1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneBRCA1chr2:207018341chr17:41209152ENST0000035765417231397_14241731.01864.0PALB2


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Related Drugs to NDUFS1-BRCA1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to NDUFS1-BRCA1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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