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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: 11476

FusionGeneSummary for ELN_FADS2

check button Fusion gene summary
Fusion gene informationFusion gene name: ELN_FADS2
Fusion gene ID: 11476
HgeneTgene
Gene symbol

ELN

FADS2

Gene ID

100130933

9415

Gene namesmall integral membrane protein 6fatty acid desaturase 2
SynonymsC17orf110|ELND6D|DES6|FADSD6|LLCDL2|SLL0262|TU13
Cytomap

17q25.1

11q12.2

Type of geneprotein-codingprotein-coding
Descriptionsmall integral membrane protein 6endoregulinfatty acid desaturase 2acyl-CoA 6-desaturasedelta-6 fatty acid desaturasedelta-6-desaturaselinoleoyl-CoA desaturase (delta-6-desaturase)-like 2
Modification date2018040220180519
UniProtAcc

P15502

O95864

Ensembl transtripts involved in fusion geneENST00000445912, ENST00000252034, 
ENST00000358929, ENST00000320492, 
ENST00000414324, ENST00000380562, 
ENST00000380575, ENST00000380584, 
ENST00000458204, ENST00000357036, 
ENST00000429192, ENST00000380553, 
ENST00000380576, ENST00000320399, 
ENST00000466878, 
ENST00000257261, 
ENST00000522056, ENST00000278840, 
ENST00000521849, ENST00000574708, 
ENST00000522639, ENST00000517839, 
Fusion gene scores* DoF score8 X 6 X 3=14416 X 7 X 7=784
# samples 717
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/784*10)=-2.20531890797751
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ELN [Title/Abstract] AND FADS2 [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

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
TCGARVBRCATCGA-D8-A1XQ-01AELNchr7

73484007

+FADS2chr11

61588853

+
* 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
intron-intronENST00000445912ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000445912ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000445912ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000445912ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000445912ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000445912ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000445912ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000252034ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000252034ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000252034ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000252034ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000252034ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000252034ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000252034ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000358929ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000358929ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000358929ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000358929ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000358929ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000358929ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000358929ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000320492ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000320492ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000320492ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000320492ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000320492ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000320492ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000320492ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000414324ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000414324ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000414324ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000414324ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000414324ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000414324ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000414324ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000380562ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000380562ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000380562ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000380562ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000380562ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000380562ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000380562ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380575ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380575ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380575ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380575ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380575ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380575ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380575ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000380584ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000380584ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000380584ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000380584ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000380584ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000380584ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000380584ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000458204ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000458204ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000458204ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000458204ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000458204ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000458204ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000458204ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000357036ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000357036ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000357036ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000357036ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000357036ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000357036ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000357036ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000429192ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000429192ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000429192ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000429192ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000429192ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000429192ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
3UTR-intronENST00000429192ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380553ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380553ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380553ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380553ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380553ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380553ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380553ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380576ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380576ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380576ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380576ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380576ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380576ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
5CDS-intronENST00000380576ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000320399ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000320399ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000320399ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000320399ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000320399ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000320399ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000320399ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000466878ENST00000257261ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000466878ENST00000522056ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000466878ENST00000278840ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000466878ENST00000521849ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000466878ENST00000574708ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000466878ENST00000522639ELNchr7

73484007

+FADS2chr11

61588853

+
intron-intronENST00000466878ENST00000517839ELNchr7

73484007

+FADS2chr11

61588853

+

Top

FusionProtFeatures for ELN_FADS2


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

P15502

FADS2

O95864

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}.

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


Top

FusionGeneSequence for ELN_FADS2


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 ELN_FADS2


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
ELNBGN, DCN, FBN1, FBN2, FBLN1, FBLN2, NID2, PRTN3, LGALS3, FCN1, CLU, LOX, CKMT2, MAGEH1FADS2ATXN1L, CLN3, EGFR, ATP1B3, VSIG4, NTRK1, TCTN2, TCTN3, TRIM25


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 ELN_FADS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneELNP15502DB00533RofecoxibElastinsmall moleculeapproved|investigational|withdrawn

Top

RelatedDiseases for ELN_FADS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneELNC0003499Supravalvular aortic stenosis2CTD_human;HPO;ORPHANET
HgeneELNC0034069Pulmonary Fibrosis2CTD_human
HgeneELNC0010495Cutis Laxa1CTD_human;HPO
HgeneELNC0019284Diaphragmatic Hernia1CTD_human
HgeneELNC0020538Hypertensive disease1CTD_human
HgeneELNC0024117Chronic Obstructive Airway Disease1CTD_human
HgeneELNC0034067Pulmonary Emphysema1CTD_human;HPO
HgeneELNC0151744Myocardial Ischemia1CTD_human
HgeneELNC0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
TgeneFADS2C0005586Bipolar Disorder1PSYGENET
TgeneFADS2C0009404Colorectal Neoplasms1CTD_human
TgeneFADS2C0023794Lipoidosis1CTD_human
TgeneFADS2C0036341Schizophrenia1PSYGENET
TgeneFADS2C4277682Chemical and Drug Induced Liver Injury1CTD_human