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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: 31150

FusionGeneSummary for RHBDL2_NXN

check button Fusion gene summary
Fusion gene informationFusion gene name: RHBDL2_NXN
Fusion gene ID: 31150
HgeneTgene
Gene symbol

RHBDL2

NXN

Gene ID

54933

64359

Gene namerhomboid like 2nucleoredoxin
SynonymsRRP2NRX|TRG-4
Cytomap

1p34.3

17p13.3

Type of geneprotein-codingprotein-coding
Descriptionrhomboid-related protein 2rhomboid (veinlet, Drosophila)-like 2rhomboid protease 2rhomboid, veinlet-like 2rhomboid-like protein 2nucleoredoxinnucleoredoxin 1
Modification date2018052220180519
UniProtAcc

Q9NX52

Q6DKJ4

Ensembl transtripts involved in fusion geneENST00000372990, ENST00000289248, 
ENST00000538156, ENST00000372985, 
ENST00000540558, 		ENST00000336868, 
ENST00000577098, ENST00000575801, 
ENST00000538650, ENST00000537628, 
Fusion gene scores* DoF score3 X 2 X 3=188 X 7 X 3=168
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RHBDL2 [Title/Abstract] AND NXN [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
ChiTaRS3.1AK000442RHBDL2chr1

39351968

-NXNchr17

703054

-
* 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-3UTRENST00000372990ENST00000336868RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-intronENST00000372990ENST00000577098RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-3UTRENST00000372990ENST00000575801RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-intronENST00000372990ENST00000538650RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-intronENST00000372990ENST00000537628RHBDL2chr1

39351968

-NXNchr17

703054

-
5CDS-3UTRENST00000289248ENST00000336868RHBDL2chr1

39351968

-NXNchr17

703054

-
5CDS-intronENST00000289248ENST00000577098RHBDL2chr1

39351968

-NXNchr17

703054

-
5CDS-3UTRENST00000289248ENST00000575801RHBDL2chr1

39351968

-NXNchr17

703054

-
5CDS-intronENST00000289248ENST00000538650RHBDL2chr1

39351968

-NXNchr17

703054

-
5CDS-intronENST00000289248ENST00000537628RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-3UTRENST00000538156ENST00000336868RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-intronENST00000538156ENST00000577098RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-3UTRENST00000538156ENST00000575801RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-intronENST00000538156ENST00000538650RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-intronENST00000538156ENST00000537628RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-3UTRENST00000372985ENST00000336868RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-intronENST00000372985ENST00000577098RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-3UTRENST00000372985ENST00000575801RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-intronENST00000372985ENST00000538650RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-intronENST00000372985ENST00000537628RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-3UTRENST00000540558ENST00000336868RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-intronENST00000540558ENST00000577098RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-3UTRENST00000540558ENST00000575801RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-intronENST00000540558ENST00000538650RHBDL2chr1

39351968

-NXNchr17

703054

-
intron-intronENST00000540558ENST00000537628RHBDL2chr1

39351968

-NXNchr17

703054

-

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FusionProtFeatures for RHBDL2_NXN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RHBDL2

Q9NX52

NXN

Q6DKJ4

Involved in regulated intramembrane proteolysis and thesubsequent release of functional polypeptides from their membraneanchors. Known substrate: EFNB3. {ECO:0000269|PubMed:11672525,ECO:0000269|PubMed:15047175}. Functions as a redox-dependent negative regulator of theWnt signaling pathway, possibly by preventing ubiquitination ofDVL3 by the BCR(KLHL12) complex. May also function as atranscriptional regulator act as a regulator of proteinphosphatase 2A (PP2A) (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 RHBDL2_NXN


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 RHBDL2_NXN


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 RHBDL2_NXN


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 RHBDL2_NXN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNXNC0009404Colorectal Neoplasms1CTD_human