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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: 11481

FusionGeneSummary for ELN_TXNDC5

check button Fusion gene summary
Fusion gene informationFusion gene name: ELN_TXNDC5
Fusion gene ID: 11481
HgeneTgene
Gene symbol

ELN

TXNDC5

Gene ID

100130933

81567

Gene namesmall integral membrane protein 6thioredoxin domain containing 5
SynonymsC17orf110|ELNENDOPDI|ERP46|HCC-2|HCC2|PDIA15|STRF8|UNQ364
Cytomap

17q25.1

6p24.3

Type of geneprotein-codingprotein-coding
Descriptionsmall integral membrane protein 6endoregulinthioredoxin domain-containing protein 5ER protein 46endoplasmic reticulum protein ERp46endoplasmic reticulum resident protein 46endothelial protein disulphide isomeraseprotein disulfide isomerase family A, member 15thioredoxin domain containing 5 (e
Modification date2018040220180523
UniProtAcc

P15502

Q8NBS9

Ensembl transtripts involved in fusion geneENST00000445912, ENST00000252034, 
ENST00000358929, ENST00000320492, 
ENST00000414324, ENST00000380562, 
ENST00000380575, ENST00000380584, 
ENST00000458204, ENST00000357036, 
ENST00000429192, ENST00000380553, 
ENST00000380576, ENST00000320399, 
ENST00000466878, 		ENST00000539054, 
ENST00000379757, ENST00000473453, 
Fusion gene scores* DoF score8 X 6 X 3=1447 X 7 X 2=98
# samples 77
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/98*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ELN [Title/Abstract] AND TXNDC5 [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
ChiTaRS3.1DA537387ELNchr7

73457034

+TXNDC5chr6

7910891

-
* 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
5CDS-intronENST00000445912ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000445912ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000445912ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000252034ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000252034ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000252034ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000358929ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000358929ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000358929ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000320492ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000320492ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000320492ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000414324ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000414324ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000414324ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000380562ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000380562ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000380562ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000380575ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000380575ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000380575ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000380584ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000380584ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000380584ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000458204ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000458204ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000458204ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000357036ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000357036ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000357036ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000429192ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000429192ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000429192ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
intron-intronENST00000380553ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
intron-intronENST00000380553ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
intron-intronENST00000380553ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000380576ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000380576ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000380576ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000320399ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000320399ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
5CDS-intronENST00000320399ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-
intron-intronENST00000466878ENST00000539054ELNchr7

73457034

+TXNDC5chr6

7910891

-
intron-intronENST00000466878ENST00000379757ELNchr7

73457034

+TXNDC5chr6

7910891

-
intron-intronENST00000466878ENST00000473453ELNchr7

73457034

+TXNDC5chr6

7910891

-

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FusionProtFeatures for ELN_TXNDC5


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

P15502

TXNDC5

Q8NBS9

Possesses thioredoxin activity. Has been shown to reduceinsulin disulfide bonds. Also complements protein disulfide-isomerase deficiency in yeast (By similarity). {ECO:0000250}.

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 ELN_TXNDC5


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_TXNDC5


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


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_TXNDC5


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

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RelatedDiseases for ELN_TXNDC5


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
TgeneTXNDC5C0003873Rheumatoid Arthritis1CTD_human
TgeneTXNDC5C0027627Neoplasm Metastasis1CTD_human
TgeneTXNDC5C0033578Prostatic Neoplasms1CTD_human
TgeneTXNDC5C0036341Schizophrenia1PSYGENET
TgeneTXNDC5C0993582Arthritis, Experimental1CTD_human