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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: 12421

FusionGeneSummary for FADS2_EIF3F

check button Fusion gene summary
Fusion gene informationFusion gene name: FADS2_EIF3F
Fusion gene ID: 12421
HgeneTgene
Gene symbol

FADS2

EIF3F

Gene ID

9415

8665

Gene namefatty acid desaturase 2eukaryotic translation initiation factor 3 subunit F
SynonymsD6D|DES6|FADSD6|LLCDL2|SLL0262|TU13EIF3S5|eIF3-p47
Cytomap

11q12.2

11p15.4

Type of geneprotein-codingprotein-coding
Descriptionfatty acid desaturase 2acyl-CoA 6-desaturasedelta-6 fatty acid desaturasedelta-6-desaturaselinoleoyl-CoA desaturase (delta-6-desaturase)-like 2eukaryotic translation initiation factor 3 subunit Fdeubiquitinating enzyme eIF3feIF-3-epsiloneIF3-epsiloneukaryotic translation initiation factor 3, subunit 5 (epsilon, 47kD)eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa
Modification date2018051920180523
UniProtAcc

O95864

O00303

Ensembl transtripts involved in fusion geneENST00000257261, ENST00000522056, 
ENST00000278840, ENST00000521849, 
ENST00000574708, ENST00000522639, 
ENST00000517839, 
ENST00000533626, 
ENST00000537635, ENST00000309828, 
ENST00000449102, 
Fusion gene scores* DoF score3 X 3 X 3=271 X 1 X 1=1
# samples 31
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: FADS2 [Title/Abstract] AND EIF3F [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
TgeneEIF3F

GO:0006413

translational initiation

17581632

TgeneEIF3F

GO:0016579

protein deubiquitination

21124883

TgeneEIF3F

GO:0075522

IRES-dependent viral translational initiation

9573242


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-D8-A147-01AFADS2chr11

61583898

+EIF3Fchr11

8014434

+
* 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
Frame-shitENST00000257261ENST00000533626FADS2chr11

61583898

+EIF3Fchr11

8014434

+
Frame-shitENST00000257261ENST00000537635FADS2chr11

61583898

+EIF3Fchr11

8014434

+
Frame-shitENST00000257261ENST00000309828FADS2chr11

61583898

+EIF3Fchr11

8014434

+
Frame-shitENST00000257261ENST00000449102FADS2chr11

61583898

+EIF3Fchr11

8014434

+
5UTR-3CDSENST00000522056ENST00000533626FADS2chr11

61583898

+EIF3Fchr11

8014434

+
5UTR-3CDSENST00000522056ENST00000537635FADS2chr11

61583898

+EIF3Fchr11

8014434

+
5UTR-3CDSENST00000522056ENST00000309828FADS2chr11

61583898

+EIF3Fchr11

8014434

+
5UTR-3CDSENST00000522056ENST00000449102FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000278840ENST00000533626FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000278840ENST00000537635FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000278840ENST00000309828FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000278840ENST00000449102FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000521849ENST00000533626FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000521849ENST00000537635FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000521849ENST00000309828FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000521849ENST00000449102FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000574708ENST00000533626FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000574708ENST00000537635FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000574708ENST00000309828FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000574708ENST00000449102FADS2chr11

61583898

+EIF3Fchr11

8014434

+
5UTR-3CDSENST00000522639ENST00000533626FADS2chr11

61583898

+EIF3Fchr11

8014434

+
5UTR-3CDSENST00000522639ENST00000537635FADS2chr11

61583898

+EIF3Fchr11

8014434

+
5UTR-3CDSENST00000522639ENST00000309828FADS2chr11

61583898

+EIF3Fchr11

8014434

+
5UTR-3CDSENST00000522639ENST00000449102FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000517839ENST00000533626FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000517839ENST00000537635FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000517839ENST00000309828FADS2chr11

61583898

+EIF3Fchr11

8014434

+
intron-3CDSENST00000517839ENST00000449102FADS2chr11

61583898

+EIF3Fchr11

8014434

+

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FusionProtFeatures for FADS2_EIF3F


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FADS2

O95864

EIF3F

O00303

Component of a lipid metabolic pathway that catalyzesbiosynthesis of highly unsaturated fatty acids (HUFA) fromprecursor essential polyunsaturated fatty acids (PUFA) linoleicacid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3).Catalyzes the first and rate limiting step in this pathway whichis the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3)respectively and other desaturation steps. Highly unsaturatedfatty acids (HUFA) play pivotal roles in many biologicalfunctions. It catalizes as well the introduction of a cis doublebond in palmitate to produce the mono-unsaturated fatty acidsapienate, the most abundant fatty acid in sebum.{ECO:0000269|PubMed:12713571, ECO:0000269|PubMed:9867867}. Component of the eukaryotic translation initiationfactor 3 (eIF-3) complex, which is required for several steps inthe initiation of protein synthesis (PubMed:17581632,PubMed:25849773, PubMed:27462815). The eIF-3 complex associateswith the 40S ribosome and facilitates the recruitment of eIF-1,eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNArecruitment to the 43S PIC and scanning of the mRNA for AUGrecognition. The eIF-3 complex is also required for disassemblyand recycling of post-termination ribosomal complexes andsubsequently prevents premature joining of the 40S and 60Sribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of asubset of mRNAs involved in cell proliferation, including cellcycling, differentiation and apoptosis, and uses different modesof RNA stem-loop binding to exert either translational activationor repression (PubMed:25849773). {ECO:0000255|HAMAP-Rule:MF_03005,ECO:0000269|PubMed:17581632, ECO:0000269|PubMed:25849773,ECO:0000269|PubMed:27462815}. Deubiquitinates activated NOTCH1, promoting its nuclearimport, thereby acting as a positive regulator of Notch signaling.{ECO:0000269|PubMed:21124883}.

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 FADS2_EIF3F


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 FADS2_EIF3F


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
FADS2ATXN1L, CLN3, EGFR, ATP1B3, VSIG4, NTRK1, TCTN2, TCTN3, TRIM25EIF3FHAX1, EIF1B, EIF3A, CDK11A, DKC1, EIF3M, PTN, EEF1A1, MTOR, RPS6KB1, GLE1, CSNK2A1, CSNK2A2, CSNK2B, EIF4A2, EIF4B, EIF4E, EIF4G1, EIF4G2, EIF3E, ABCE1, PRRC2A, EIF3B, EIF3C, EIF3D, EIF3H, USP3, WDR48, EIF3G, EIF3I, EIF3J, EIF4G3, EIF4E2, ASCC3, IMMT, EIF3K, EIF3L, PRRC2B, EIF3FP3, SRRM2, UBC, HDAC5, FBXO32, RAD21, DTX1, NOTCH1, HNRNPK, CDK11B, APP, MSMO1, ATP6V1A, MRPL46, ATXN1, DDX3X, FN1, SMAD9, CD81, IGSF8, ICAM1, FBXO6, HUWE1, RNF2, EGFR, EIF3CL, TUBB3, NDE1, UQCRQ, JOSD1, C11orf49, C19orf52, TPGS1, LRRC49, SLC25A17, MSH4, MAEL, COPS5, NTRK1, KIF2A, RPL10, XRCC3, ADRA1B, MCM2, CYLD, DLD, DNM1L, G3BP1, CCND2, MCPH1, UBE2A, CLU


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 FADS2_EIF3F


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 FADS2_EIF3F


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFADS2C0005586Bipolar Disorder1PSYGENET
HgeneFADS2C0009404Colorectal Neoplasms1CTD_human
HgeneFADS2C0023794Lipoidosis1CTD_human
HgeneFADS2C0036341Schizophrenia1PSYGENET
HgeneFADS2C4277682Chemical and Drug Induced Liver Injury1CTD_human