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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: 7649

FusionGeneSummary for CNDP2_NPC1

check button Fusion gene summary
Fusion gene informationFusion gene name: CNDP2_NPC1
Fusion gene ID: 7649
HgeneTgene
Gene symbol

CNDP2

NPC1

Gene ID

55748

4864

Gene namecarnosine dipeptidase 2NPC intracellular cholesterol transporter 1
SynonymsCN2|CPGL|HEL-S-13|HsT2298|PEPANPC|POGZ|SLC65A1
Cytomap

18q22.3

18q11.2

Type of geneprotein-codingprotein-coding
Descriptioncytosolic non-specific dipeptidaseCNDP dipeptidase 2 (metallopeptidase M20 family)carnosinase-2carnosine dipeptidase IIcytosolic nonspecific dipeptidaseepididymis secretory protein Li 13glutamate carboxypeptidase-like protein 1peptidase ANPC intracellular cholesterol transporter 1Niemann-Pick C1 proteintruncated Niemann-Pick C1
Modification date2018051920180519
UniProtAcc

Q96KP4

O15118

Ensembl transtripts involved in fusion geneENST00000324262, ENST00000579847, 
ENST00000580229, ENST00000324301, 
ENST00000269228, ENST00000412552, 
ENST00000540608, 
Fusion gene scores* DoF score6 X 6 X 2=726 X 5 X 4=120
# samples 76
** MAII scorelog2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CNDP2 [Title/Abstract] AND NPC1 [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
TgeneNPC1

GO:0006486

protein glycosylation

10821832

TgeneNPC1

GO:0030301

cholesterol transport

18772377

TgeneNPC1

GO:0033344

cholesterol efflux

16141411

TgeneNPC1

GO:0042632

cholesterol homeostasis

12719428

TgeneNPC1

GO:0090150

establishment of protein localization to membrane

23360953


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
TCGALDCOADTCGA-CA-5256-01ACNDP2chr18

72173246

+NPC1chr18

21086606

-
* 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-intronENST00000324262ENST00000269228CNDP2chr18

72173246

+NPC1chr18

21086606

-
5CDS-intronENST00000324262ENST00000412552CNDP2chr18

72173246

+NPC1chr18

21086606

-
5CDS-intronENST00000324262ENST00000540608CNDP2chr18

72173246

+NPC1chr18

21086606

-
5CDS-intronENST00000579847ENST00000269228CNDP2chr18

72173246

+NPC1chr18

21086606

-
5CDS-intronENST00000579847ENST00000412552CNDP2chr18

72173246

+NPC1chr18

21086606

-
5CDS-intronENST00000579847ENST00000540608CNDP2chr18

72173246

+NPC1chr18

21086606

-
intron-intronENST00000580229ENST00000269228CNDP2chr18

72173246

+NPC1chr18

21086606

-
intron-intronENST00000580229ENST00000412552CNDP2chr18

72173246

+NPC1chr18

21086606

-
intron-intronENST00000580229ENST00000540608CNDP2chr18

72173246

+NPC1chr18

21086606

-
intron-intronENST00000324301ENST00000269228CNDP2chr18

72173246

+NPC1chr18

21086606

-
intron-intronENST00000324301ENST00000412552CNDP2chr18

72173246

+NPC1chr18

21086606

-
intron-intronENST00000324301ENST00000540608CNDP2chr18

72173246

+NPC1chr18

21086606

-

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FusionProtFeatures for CNDP2_NPC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CNDP2

Q96KP4

NPC1

O15118

Hydrolyzes a variety of dipeptides including L-carnosinebut has a strong preference for Cys-Gly (PubMed:19346245). Acts asa functional tumor suppressor in gastric cancer via activation ofthe mitogen-activated protein kinase (MAPK) pathway. An elevatedlevel of CNDP2 activates the p38 and JNK MAPK pathways to inducecell apoptosis, and a lower level of CNDP2 activates the ERK MAPKpathway to promote cell proliferation (PubMed:24395568). Isoform 2may play a role as tumor suppressor in hepatocellular carcinoma(HCC) cells (PubMed:17121880). Catalyzes the production of N-lactoyl-amino acids from lactate and amino acids by reverseproteolysis (PubMed:25964343). {ECO:0000269|PubMed:17121880,ECO:0000269|PubMed:19346245, ECO:0000269|PubMed:24395568,ECO:0000269|PubMed:25964343}. Intracellular cholesterol transporter which acts inconcert with NPC2 and plays an important role in the egress ofcholesterol from the endosomal/lysosomal compartment. Both NPC1and NPC2 function as the cellular 'tag team duo' (TTD) to catalyzethe mobilization of cholesterol within the multivesicularenvironment of the late endosome (LE) to effect egress through thelimiting bilayer of the LE. NPC2 binds unesterified cholesterolthat has been released from LDLs in the lumen of the lateendosomes/lysosomes and transfers it to the cholesterol-bindingpocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1with the hydroxyl group buried in the binding pocket and isexported from the limiting membrane of late endosomes/ lysosomesto the ER and plasma membrane by an unknown mechanism. Bindsoxysterol with higher affinity than cholesterol. May play a rolein vesicular trafficking in glia, a process that may be crucialfor maintaining the structural and functional integrity of nerveterminals. {ECO:0000269|PubMed:12554680,ECO:0000269|PubMed:18772377, ECO:0000269|PubMed:19563754}. (Microbial infection) Acts as an endosomal entryreceptor for ebolavirus. {ECO:0000269|PubMed:21866103,ECO:0000269|PubMed:25855742}.

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 CNDP2_NPC1


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 CNDP2_NPC1


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
CNDP2NDRG1, ARPC1A, ASS1, CAPN1, CASP7, CKB, CSE1L, ECHS1, FTO, GNS, GSR, KYNU, LDHA, LDHB, NPEPPS, PDIA3, RPLP2, SMEK2, DLD, G6PD, GBP2, GINS2, GLA, MVD, NANS, PEPD, RPL23, RPS6KA1, SCLY, SLC9A3R1, TGM2, UBFD1, USP14, MOV10, ZDHHC17, CNDP1, GSTO2, HDHD1, LCP1, GDPGP1, NMRAL1, CRK, DAPP1, STAT3, LRRC36, C8orf34, NSUN2NPC1VPS4A, OSBPL5, LRP6, TMEM173, UNC93B1, FBXO6, MRPS28, TMOD3, LGR4, LGALS8, PTPRK, IL17RC, TPRA1


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 CNDP2_NPC1


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 CNDP2_NPC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCNDP2C0011881Diabetic Nephropathy1CTD_human
HgeneCNDP2C0015695Fatty Liver1CTD_human
TgeneNPC1C3179455Niemann-Pick Disease, Type C116UNIPROT
TgeneNPC1C0220756Niemann-Pick Disease, Type C2CTD_human
TgeneNPC1C0004134Ataxia1CTD_human
TgeneNPC1C0004153Atherosclerosis1CTD_human
TgeneNPC1C0006309Brucellosis1CTD_human
TgeneNPC1C0013362Dysarthria1CTD_human;HPO
TgeneNPC1C0023890Liver Cirrhosis1CTD_human
TgeneNPC1C0023895Liver diseases1CTD_human
TgeneNPC1C0028754Obesity1CTD_human
TgeneNPC1C0029089Ophthalmoplegia1CTD_human