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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: 24831

FusionGeneSummary for NRCAM_PNPLA8

check button Fusion gene summary
Fusion gene informationFusion gene name: NRCAM_PNPLA8
Fusion gene ID: 24831
HgeneTgene
Gene symbol

NRCAM

PNPLA8

Gene ID

4897

50640

Gene nameneuronal cell adhesion moleculepatatin like phospholipase domain containing 8
Synonyms-IPLA2-2|IPLA2G|MMLA|PNPLA-gamma|iPLA2gamma
Cytomap

7q31.1

7q31.1

Type of geneprotein-codingprotein-coding
Descriptionneuronal cell adhesion moleculeNgCAM-related cell adhesion moleculeneuronal surface protein Bravocalcium-independent phospholipase A2-gammaintracellular membrane-associated calcium-independent phospholipase A2 gammamembrane-associated calcium-independent phospholipase A2 gamma
Modification date2018051920180519
UniProtAcc

Q92823

Q9NP80

Ensembl transtripts involved in fusion geneENST00000379028, ENST00000413765, 
ENST00000351718, ENST00000379024, 
ENST00000379022, ENST00000425651, 
ENST00000522550, 
ENST00000426128, 
ENST00000388728, ENST00000257694, 
ENST00000422087, ENST00000453144, 
ENST00000436062, ENST00000483879, 
Fusion gene scores* DoF score7 X 6 X 5=2102 X 2 X 2=8
# samples 93
** MAII scorelog2(9/210*10)=-1.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/8*10)=1.90689059560852
Context

PubMed: NRCAM [Title/Abstract] AND PNPLA8 [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
HgeneNRCAM

GO:0045162

clustering of voltage-gated sodium channels

14602817

TgenePNPLA8

GO:0001516

prostaglandin biosynthetic process

15695510

TgenePNPLA8

GO:0006631

fatty acid metabolic process

10744668

TgenePNPLA8

GO:0008219

cell death

15695510

TgenePNPLA8

GO:0019369

arachidonic acid metabolic process

10833412|15695510

TgenePNPLA8

GO:0034638

phosphatidylcholine catabolic process

15695510

TgenePNPLA8

GO:0043651

linoleic acid metabolic process

15695510

TgenePNPLA8

GO:0046338

phosphatidylethanolamine catabolic process

15695510

TgenePNPLA8

GO:0050482

arachidonic acid secretion

10833412|15695510


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
ChiTaRS3.1DB477711NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
ChiTaRS3.1DB472533NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
* 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
5UTR-3CDSENST00000379028ENST00000426128NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379028ENST00000388728NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379028ENST00000257694NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379028ENST00000422087NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379028ENST00000453144NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379028ENST00000436062NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-5UTRENST00000379028ENST00000483879NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000413765ENST00000426128NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000413765ENST00000388728NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000413765ENST00000257694NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000413765ENST00000422087NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000413765ENST00000453144NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000413765ENST00000436062NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-5UTRENST00000413765ENST00000483879NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000351718ENST00000426128NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000351718ENST00000388728NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000351718ENST00000257694NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000351718ENST00000422087NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000351718ENST00000453144NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000351718ENST00000436062NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-5UTRENST00000351718ENST00000483879NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379024ENST00000426128NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379024ENST00000388728NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379024ENST00000257694NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379024ENST00000422087NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379024ENST00000453144NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379024ENST00000436062NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-5UTRENST00000379024ENST00000483879NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379022ENST00000426128NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379022ENST00000388728NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379022ENST00000257694NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379022ENST00000422087NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379022ENST00000453144NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-3CDSENST00000379022ENST00000436062NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
5UTR-5UTRENST00000379022ENST00000483879NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-3CDSENST00000425651ENST00000426128NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-3CDSENST00000425651ENST00000388728NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-3CDSENST00000425651ENST00000257694NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-3CDSENST00000425651ENST00000422087NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-3CDSENST00000425651ENST00000453144NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-3CDSENST00000425651ENST00000436062NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-5UTRENST00000425651ENST00000483879NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-3CDSENST00000522550ENST00000426128NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-3CDSENST00000522550ENST00000388728NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-3CDSENST00000522550ENST00000257694NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-3CDSENST00000522550ENST00000422087NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-3CDSENST00000522550ENST00000453144NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-3CDSENST00000522550ENST00000436062NRCAMchr7

108039879

-PNPLA8chr7

108143088

-
intron-5UTRENST00000522550ENST00000483879NRCAMchr7

108039879

-PNPLA8chr7

108143088

-

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FusionProtFeatures for NRCAM_PNPLA8


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

Q92823

PNPLA8

Q9NP80

Cell adhesion protein that is required for normalresponses to cell-cell contacts in brain and in the peripheralnervous system. Plays a role in neurite outgrowth in response tocontactin binding. Plays a role in mediating cell-cell contactsbetween Schwann cells and axons. Plays a role in the formation andmaintenance of the nodes of Ranvier on myelinated axons. Nodes ofRanvier contain clustered sodium channels that are crucial for thesaltatory propagation of action potentials along myelinated axons.During development, nodes of Ranvier are formed by the fusion oftwo heminodes. Required for normal clustering of sodium channelsat heminodes; not required for the formation of mature nodes withnormal sodium channel clusters. Required, together with GLDN, formaintaining NFASC and sodium channel clusters at mature nodes ofRanvier. {ECO:0000250|UniProtKB:Q810U4}.

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 NRCAM_PNPLA8


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 NRCAM_PNPLA8


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
NRCAMPTPRB, CNTN2, HSPA12A, MACF1, MAGI3, LNX1, FRMD5, NTRK1PNPLA8HNRNPD, KAT6A, SYNCRIP, PLK4, SIN3B, SGTB, BAG6


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 NRCAM_PNPLA8


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 NRCAM_PNPLA8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNRCAMC0004352Autistic Disorder2CTD_human
HgeneNRCAMC0009404Colorectal Neoplasms2CTD_human
HgeneNRCAMC0236969Substance-Related Disorders1CTD_human
HgeneNRCAMC1458155Mammary Neoplasms1CTD_human