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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 23778

FusionGeneSummary for NDFIP1_NDUFAF2

check button Fusion gene summary
Fusion gene informationFusion gene name: NDFIP1_NDUFAF2
Fusion gene ID: 23778
HgeneTgene
Gene symbol

NDFIP1

NDUFAF2

Gene ID

80762

91942

Gene nameNedd4 family interacting protein 1NADH:ubiquinone oxidoreductase complex assembly factor 2
SynonymsN4WBP5B17.2L|MMTN|NDUFA12L|mimitin
Cytomap

5q31.3

5q12.1

Type of geneprotein-codingprotein-coding
DescriptionNEDD4 family-interacting protein 1Nedd4 WW domain-binding protein 5breast cancer-associated protein SGA-1Mputative MAPK-activating protein PM13putative NF-kappa-B-activating protein 164putative NFKB and MAPK-activating proteinNADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2Myc-induced mitochondrial proteinNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2NADH dehydrogenase (ubiquinone) complex I, assembly factor 2NADH dehydrogenase 1
Modification date2018052220180523
UniProtAcc

Q9BT67

Q8N183

Ensembl transtripts involved in fusion geneENST00000253814, ENST00000509436, 
ENST00000296597, ENST00000511107, 
ENST00000512623, 
Fusion gene scores* DoF score3 X 3 X 2=186 X 4 X 3=72
# samples 36
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NDFIP1 [Title/Abstract] AND NDUFAF2 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneNDFIP1

GO:0031398

positive regulation of protein ubiquitination

25631046


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-A7-A56D-01ANDFIP1chr5

141524241

+NDUFAF2chr5

60448531

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

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
3UTR-3CDSENST00000253814ENST00000296597NDFIP1chr5

141524241

+NDUFAF2chr5

60448531

+
3UTR-3UTRENST00000253814ENST00000511107NDFIP1chr5

141524241

+NDUFAF2chr5

60448531

+
3UTR-3UTRENST00000253814ENST00000512623NDFIP1chr5

141524241

+NDUFAF2chr5

60448531

+
intron-3CDSENST00000509436ENST00000296597NDFIP1chr5

141524241

+NDUFAF2chr5

60448531

+
intron-3UTRENST00000509436ENST00000511107NDFIP1chr5

141524241

+NDUFAF2chr5

60448531

+
intron-3UTRENST00000509436ENST00000512623NDFIP1chr5

141524241

+NDUFAF2chr5

60448531

+

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FusionProtFeatures for NDFIP1_NDUFAF2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NDFIP1

Q9BT67

NDUFAF2

Q8N183

Activates HECT domain-containing E3 ubiquitin-proteinligases, including NEDD4 and ITCH, and consequently modulates thestability of their targets. As a result, controls many cellularprocesses. Prevents chronic T-helper cell-mediated inflammation byactivating ITCH and thus controlling JUNB degradation (Bysimilarity). Promotes pancreatic beta cell death throughdegradation of JUNB and inhibition of the unfolded proteinresponse, leading to reduction of insulin secretion(PubMed:26319551). Restricts the production of proinflammatorycytokines in effector Th17 T-cells by promoting ITCH-mediatedubiquitination and degradation of RORC (By similarity). Togetherwith NDFIP2, limits the cytokine signaling and expansion ofeffector Th2 T-cells by promoting degradation of JAK1, probably byITCH- and NEDD4L-mediated ubiquitination (By similarity).Regulates peripheral T-cell tolerance to self and foreignantigens, forcing the exit of naive CD4+ T-cells from the cellcycle before they become effector T-cells (By similarity).Negatively regulates RLR-mediated antiviral response by promotingSMURF1-mediated ubiquitination and subsequent degradation of MAVS(PubMed:23087404). Negatively regulates KCNH2 potassium channelactivity by decreasing its cell-surface expression and interferingwith channel maturation through recruitment of NEDD4L to the Golgiapparatus where it mediates KCNH2 degradation (PubMed:26363003).In cortical neurons, mediates the ubiquitination of the divalentmetal transporter SLC11A2/DMT1 by NEDD4L, leading to its down-regulation and protection of the cells from cobalt and irontoxicity (PubMed:19706893). Important for normal development ofdendrites and dendritic spines in cortex (By similarity). Enhancesthe ubiquitination of BRAT1 mediated by: NEDD4, NEDD4L and ITCHand is required for the nuclear localization of ubiquitinatedBRAT1 (PubMed:25631046). Enhances the ITCH-mediated ubiquitinationof MAP3K7 by recruiting E2 ubiquitin-conjugating enzyme UBE2L3 toITCH (By similarity). Modulates EGFR signaling through multiplepathways. In particular, may regulate the ratio of AKT1-to-MAPK8signaling in response to EGF, acting on AKT1 probably through PTENdestabilization and on MAPK8 through ITCH-dependent MAP2K4inactivation. As a result, may control cell growth rate(PubMed:20534535). Inhibits cell proliferation by promoting PTENnuclear localization and changing its signaling specificity(PubMed:25801959). {ECO:0000250|UniProtKB:Q8R0W6,ECO:0000269|PubMed:19343052, ECO:0000269|PubMed:19706893,ECO:0000269|PubMed:20534535, ECO:0000269|PubMed:23087404,ECO:0000269|PubMed:25631046, ECO:0000269|PubMed:25801959,ECO:0000269|PubMed:26319551, ECO:0000269|PubMed:26363003}. Acts as a molecular chaperone for mitochondrial complexI assembly (PubMed:16200211). Complex I functions in the transferof electrons from NADH to the respiratory chain. The immediateelectron acceptor for the enzyme is believed to be ubiquinone(PubMed:16200211, PubMed:27626371). {ECO:0000269|PubMed:16200211,ECO:0000269|PubMed:27626371}.

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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FusionGeneSequence for NDFIP1_NDUFAF2


check button 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 NDFIP1_NDUFAF2


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
NDFIP1SLC11A2, PTEN, EGFR, NEDD4L, MAVS, SMURF1, PRRG3, TSPAN3, TMEM231, TGFBR2, TEX29, GINM1, WWP2, PTGFR, ZDHHC7, TNFRSF10B, HEPACAM2, OPN4, IQCF3, TMEM92, UNK, MAP3K7, ITCH, UBE2L3, NEDD4, SNCA, SLC1A1, MANSC1, LRRIQ1, MRAP2, C16orf58, IFNGR1, SLC20A1, ENTPD7, C14orf37, TPCN2, DRD2, CD83, IZUMO1, FAM8A1NDUFAF2ACOT13, CDV3, RPS24, RPS26, PPIF, SUGP2, SON, ATXN3, CHST15, COQ9, C15orf48, NDUFA4, PTPMT1, COQ2, CBLN4


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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RelatedDrugs for NDFIP1_NDUFAF2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NDFIP1_NDUFAF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNDUFAF2C0752109Brain Diseases, Metabolic, Inborn1CTD_human