	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 6886

FusionGeneSummary for CFB_NDUFV1

Fusion gene summary

Fusion gene information	Fusion gene name: CFB_NDUFV1
	Fusion gene ID: 6886
		Hgene	Tgene
	Gene symbol	CFB	NDUFV1
	Gene ID	629	4723
	Gene name	complement factor B	NADH:ubiquinone oxidoreductase core subunit V1
	Synonyms	AHUS4\|ARMD14\|BF\|BFD\|CFAB\|CFBD\|FB\|FBI12\|GBG\|H2-Bf\|PBF2	CI-51K\|CI51KD\|UQOR1
	Cytomap	6p21.33	11q13.2
	Type of gene	protein-coding	protein-coding
	Description	complement factor BB-factor, properdinC3 proacceleratorC3 proactivatorC3/C5 convertaseglycine-rich beta-glycoproteinproperdin factor B	NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrialNADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDaNADH-ubiquinone oxidoreductase 51 kDa subunitcomplex I 51 kda subunitcomplex I 51kDa subunitcomplex I, mitochondrial respiratory chainm
	Modification date	20180520	20180523
	UniProtAcc	P00751	P49821
	Ensembl transtripts involved in fusion gene	ENST00000556679, ENST00000456570, ENST00000477310, ENST00000425368, ENST00000497841, ENST00000417261, ENST00000427888, ENST00000459734, ENST00000455591, ENST00000433503, ENST00000474621, ENST00000424727, ENST00000436692, ENST00000473139, ENST00000399981, ENST00000419920, ENST00000465211, ENST00000375455, ENST00000489605, ENST00000426239, ENST00000419411, ENST00000460958,	ENST00000322776, ENST00000532303, ENST00000529927, ENST00000415352, ENST00000526169,
Fusion gene scores	* DoF score	7 X 6 X 4=168	35 X 6 X 14=2940
	# samples	15	37
	** MAII score	log2(15/168*10)=-0.163498732282879 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(37/2940*10)=-2.99021897920741 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CFB [Title/Abstract] AND NDUFV1 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	RV	CHOL	TCGA-W5-AA36-01A	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-intron	ENST00000556679	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000556679	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000556679	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000556679	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000556679	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000456570	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000456570	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000456570	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000456570	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000456570	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000477310	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000477310	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000477310	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000477310	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000477310	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
5CDS-intron	ENST00000425368	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
5CDS-intron	ENST00000425368	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
5CDS-intron	ENST00000425368	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
5CDS-intron	ENST00000425368	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
5CDS-intron	ENST00000425368	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000497841	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000497841	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000497841	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000497841	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000497841	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000417261	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000417261	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000417261	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000417261	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000417261	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000427888	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000427888	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000427888	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000427888	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000427888	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000459734	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000459734	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000459734	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000459734	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000459734	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000455591	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000455591	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000455591	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000455591	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000455591	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000433503	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000433503	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000433503	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000433503	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000433503	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000474621	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000474621	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000474621	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000474621	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000474621	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000424727	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000424727	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000424727	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000424727	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000424727	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000436692	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000436692	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000436692	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000436692	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000436692	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000473139	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000473139	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000473139	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000473139	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000473139	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000399981	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000399981	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000399981	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000399981	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000399981	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000419920	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000419920	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000419920	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000419920	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000419920	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000465211	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000465211	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000465211	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000465211	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000465211	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000375455	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000375455	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000375455	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000375455	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000375455	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000489605	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000489605	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000489605	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000489605	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000489605	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000426239	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000426239	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000426239	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000426239	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000426239	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000419411	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000419411	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000419411	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000419411	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000419411	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000460958	ENST00000322776	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000460958	ENST00000532303	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000460958	ENST00000529927	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000460958	ENST00000415352	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+
intron-intron	ENST00000460958	ENST00000526169	CFB	chr6	31919861	+	NDUFV1	chr11	67375697	+

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FusionProtFeatures for CFB_NDUFV1

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
CFB P00751	NDUFV1 P49821
	Core subunit of the mitochondrial membrane respiratorychain NADH dehydrogenase (Complex I) that is believed to belong tothe minimal assembly required for catalysis. Complex I functionsin the transfer of electrons from NADH to the respiratory chain.The immediate electron acceptor for the enzyme is believed to beubiquinone (By similarity). {ECO:0000250}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for CFB_NDUFV1

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 CFB_NDUFV1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
CFB	CFP, C3, ALB, FN1, RPA2, LAMC3, LAMTOR5, GDPD1, DDX19B, PTEN, NPC2, NME2, OAF, RSPRY1	NDUFV1	EWSR1, ICT1, COPS5, NDUFS8, NDUFS3, NDUFS7, NDUFS2, NDUFV2, NDUFS1, NDUFA9, NDUFB6, NDUFB10, TCOF1, VPS29, TMEM189, RRM1, NOTCH2, STMN1, TIMM9, HNRNPR, PNP, ABCD3, MPST, TOR1AIP1, ILF3, ERGIC1, DNAJB11, CPT1A, HTRA2, PAICS, HSPA1L, PALLD, SDHA, RNASET2, ADRB2, NDUFA8, COX5A, EEF2, MRPL45, ANXA11, ATP1A1, ATP1B1, ATP5F1, ATP6V0D1, FH, MTCH1, NDUFA10, NDUFA2, NDUFB8, NDUFS4, POR, SLC9A3R2, TOMM40, TPI1, UQCRB, VDAC2, PDHA1, PHB2, PSMD7, SDHB, STXBP1, UQCRFS1, NPHP1, NDUFA12, NDUFS5, NDUFA11, NDUFA13, NDUFS6, OXCT1, NDUFV3, ND1, ND5, NDUFB4, TIMMDC1, VAPA, GOLT1B, FOXQ1, NDUFA4, C15orf48, OCIAD1, COQ2, PAK7, COX6B1, C7orf55, C6orf203, COA3, NDUFB11, TRIM25

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for CFB_NDUFV1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner	Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Hgene	CFB	P00751	DB01593	Zinc	Complement factor B	small molecule	approved\|investigational

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RelatedDiseases for CFB_NDUFV1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	CFB	C2752038	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	2	ORPHANET;UNIPROT
Hgene	CFB	C0024141	Lupus Erythematosus, Systemic	1	CTD_human
Hgene	CFB	C0026896	Myasthenia Gravis	1	CTD_human
Hgene	CFB	C0242383	Age related macular degeneration	1	CTD_human
Hgene	CFB	C2931788	Atypical Hemolytic Uremic Syndrome	1	CTD_human
Tgene	NDUFV1	C1838979	MITOCHONDRIAL COMPLEX I DEFICIENCY	2	CTD_human;UNIPROT
Tgene	NDUFV1	C0005586	Bipolar Disorder	1	PSYGENET
Tgene	NDUFV1	C0023264	Leigh Disease	1	CTD_human;ORPHANET;UNIPROT
Tgene	NDUFV1	C0029408	Degenerative polyarthritis	1	CTD_human
Tgene	NDUFV1	C0036341	Schizophrenia	1	PSYGENET
Tgene	NDUFV1	C0038356	Stomach Neoplasms	1	CTD_human
Tgene	NDUFV1	C0041696	Unipolar Depression	1	PSYGENET
Tgene	NDUFV1	C1269683	Major Depressive Disorder	1	PSYGENET

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Fusion gene ID: 6886

FusionGeneSummary for CFB_NDUFV1

FusionProtFeatures for CFB_NDUFV1

FusionGeneSequence for CFB_NDUFV1

FusionGenePPI for CFB_NDUFV1

RelatedDrugs for CFB_NDUFV1

RelatedDiseases for CFB_NDUFV1