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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: 24725

FusionGeneSummary for NPLOC4_ANTXR2

check button Fusion gene summary
Fusion gene informationFusion gene name: NPLOC4_ANTXR2
Fusion gene ID: 24725
HgeneTgene
Gene symbol

NPLOC4

ANTXR2

Gene ID

55666

118429

Gene nameNPL4 homolog, ubiquitin recognition factorANTXR cell adhesion molecule 2
SynonymsNPL4CMG-2|CMG2|HFS|ISH|JHF
Cytomap

17q25.3

4q21.21

Type of geneprotein-codingprotein-coding
Descriptionnuclear protein localization protein 4 homologNPLOC4 ubiquitin recognition factornuclear protein localization 4 homologanthrax toxin receptor 2capillary morphogenesis gene 2 proteincapillary morphogenesis protein 2
Modification date2018052320180523
UniProtAcc

Q8TAT6

P58335

Ensembl transtripts involved in fusion geneENST00000331134, ENST00000374747, 
ENST00000539314, ENST00000572760, 
ENST00000573876, ENST00000574344, 
ENST00000403729, ENST00000482406, 
ENST00000404191, ENST00000346652, 
ENST00000307333, ENST00000295465, 
Fusion gene scores* DoF score11 X 9 X 7=6936 X 7 X 3=126
# samples 137
** MAII scorelog2(13/693*10)=-2.41434372910876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NPLOC4 [Title/Abstract] AND ANTXR2 [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
ChiTaRS3.1BI020354NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
* 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-intronENST00000331134ENST00000403729NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000331134ENST00000482406NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000331134ENST00000404191NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000331134ENST00000346652NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000331134ENST00000307333NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000331134ENST00000295465NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000374747ENST00000403729NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000374747ENST00000482406NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000374747ENST00000404191NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000374747ENST00000346652NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000374747ENST00000307333NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000374747ENST00000295465NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000539314ENST00000403729NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000539314ENST00000482406NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000539314ENST00000404191NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000539314ENST00000346652NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000539314ENST00000307333NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000539314ENST00000295465NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000572760ENST00000403729NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000572760ENST00000482406NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000572760ENST00000404191NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000572760ENST00000346652NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000572760ENST00000307333NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000572760ENST00000295465NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000573876ENST00000403729NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000573876ENST00000482406NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000573876ENST00000404191NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000573876ENST00000346652NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000573876ENST00000307333NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000573876ENST00000295465NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000574344ENST00000403729NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000574344ENST00000482406NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000574344ENST00000404191NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000574344ENST00000346652NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000574344ENST00000307333NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+
intron-intronENST00000574344ENST00000295465NPLOC4chr17

79563153

-ANTXR2chr4

80885507

+

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FusionProtFeatures for NPLOC4_ANTXR2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NPLOC4

Q8TAT6

ANTXR2

P58335

The ternary complex containing UFD1, VCP and NPLOC4binds ubiquitinated proteins and is necessary for the export ofmisfolded proteins from the ER to the cytoplasm, where they aredegraded by the proteasome. The NPLOC4-UFD1-VCP complex regulatesspindle disassembly at the end of mitosis and is necessary for theformation of a closed nuclear envelope (By similarity). Acts as anegative regulator of type I interferon production via the complexformed with VCP and UFD1, which binds to DDX58/RIG-I and recruitsRNF125 to promote ubiquitination and degradation of DDX58/RIG-I(PubMed:26471729). {ECO:0000250|UniProtKB:Q9ES54,ECO:0000269|PubMed:26471729}. Necessary for cellular interactions with laminin and theextracellular matrix. {ECO:0000269|PubMed:11683410,ECO:0000269|PubMed:12973667}.

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 NPLOC4_ANTXR2


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 NPLOC4_ANTXR2


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 NPLOC4_ANTXR2


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 NPLOC4_ANTXR2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneANTXR2C0009917Contracture2CTD_human
TgeneANTXR2C0016045fibroma2CTD_human
TgeneANTXR2C0017567Gingival Hypertrophy2CTD_human
TgeneANTXR2C0038013Ankylosing spondylitis2CTD_human
TgeneANTXR2C2745948Hyalinosis, Systemic2CTD_human;ORPHANET;UNIPROT
TgeneANTXR2C0029456Osteoporosis1CTD_human
TgeneANTXR2C0221204Lytic lesion1CTD_human