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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:NRCAM-CFTR (FusionGDB2 ID:59858)

Fusion Gene Summary for NRCAM-CFTR

check button Fusion gene summary
Fusion gene informationFusion gene name: NRCAM-CFTR
Fusion gene ID: 59858
HgeneTgene
Gene symbol

NRCAM

CFTR

Gene ID

4897

1080

Gene nameneuronal cell adhesion moleculeCF transmembrane conductance regulator
Synonyms-ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1
Cytomap

7q31.1

7q31.2

Type of geneprotein-codingprotein-coding
Descriptionneuronal cell adhesion moleculeNgCAM-related cell adhesion moleculeneuronal surface protein Bravocystic fibrosis transmembrane conductance regulatorcAMP-dependent chloride channelchannel conductance-controlling ATPasecystic fibrosis transmembrane conductance regulatingcystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-f
Modification date2020031320200329
UniProtAcc

Q92823

P13569

Ensembl transtripts involved in fusion geneENST00000379028, ENST00000413765, 
ENST00000351718, ENST00000379024, 
ENST00000379022, ENST00000425651, 
ENST00000522550, 		ENST00000003084, 
ENST00000454343, ENST00000608965, 
Fusion gene scores* DoF score11 X 8 X 7=61613 X 15 X 10=1950
# samples 1213
** MAII scorelog2(12/616*10)=-2.35989594508638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/1950*10)=-3.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NRCAM [Title/Abstract] AND CFTR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNRCAM(108096687)-CFTR(117305513), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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

TgeneCFTR

GO:0015701

bicarbonate transport

15010471|19019741

TgeneCFTR

GO:0034976

response to endoplasmic reticulum stress

21884936|28067262

TgeneCFTR

GO:1902476

chloride transmembrane transport

11524016|11707463|19019741

TgeneCFTR

GO:1902943

positive regulation of voltage-gated chloride channel activity

22006324

TgeneCFTR

GO:1904322

cellular response to forskolin

15010471|19621064


check buttonFusion gene breakpoints across NRCAM (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CFTR (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LIHCTCGA-RC-A6M6-01ANRCAMchr7

108096687

-CFTRchr7

117305513

+
ChimerDB4LIHCTCGA-RC-A6M6-01ANRCAMchr7

108096687

-CFTRchr7

117305513

+
ChimerDB4LIHCTCGA-RC-A6M6-01ANRCAMchr7

108096687

-CFTRchr7

117305513

+


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Fusion Gene ORF analysis for NRCAM-CFTR

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-3CDSENST00000379028ENST00000003084NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-3CDSENST00000379028ENST00000454343NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-intronENST00000379028ENST00000608965NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-3CDSENST00000413765ENST00000003084NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-3CDSENST00000413765ENST00000454343NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-intronENST00000413765ENST00000608965NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-3CDSENST00000351718ENST00000003084NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-3CDSENST00000351718ENST00000454343NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-intronENST00000351718ENST00000608965NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-3CDSENST00000379024ENST00000003084NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-3CDSENST00000379024ENST00000454343NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-intronENST00000379024ENST00000608965NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-3CDSENST00000379022ENST00000003084NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-3CDSENST00000379022ENST00000454343NRCAMchr7

108096687

-CFTRchr7

117305513

+
5UTR-intronENST00000379022ENST00000608965NRCAMchr7

108096687

-CFTRchr7

117305513

+
intron-3CDSENST00000425651ENST00000003084NRCAMchr7

108096687

-CFTRchr7

117305513

+
intron-3CDSENST00000425651ENST00000454343NRCAMchr7

108096687

-CFTRchr7

117305513

+
intron-intronENST00000425651ENST00000608965NRCAMchr7

108096687

-CFTRchr7

117305513

+
intron-3CDSENST00000522550ENST00000003084NRCAMchr7

108096687

-CFTRchr7

117305513

+
intron-3CDSENST00000522550ENST00000454343NRCAMchr7

108096687

-CFTRchr7

117305513

+
intron-intronENST00000522550ENST00000608965NRCAMchr7

108096687

-CFTRchr7

117305513

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for NRCAM-CFTR


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
NRCAMchr7108096686-CFTRchr7117305512+0.524399160.47560087
NRCAMchr7108096686-CFTRchr7117305512+0.524399160.47560087

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for NRCAM-CFTR


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q92823

CFTR

P13569

FUNCTION: Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts between Schwann cells and axons. Plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with GLDN, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier. {ECO:0000250|UniProtKB:Q810U4}.FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810). {ECO:0000269|PubMed:10792060, ECO:0000269|PubMed:11524016, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:12403779, ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:12588899, ECO:0000269|PubMed:14668433, ECO:0000269|PubMed:15010471, ECO:0000269|PubMed:16645176, ECO:0000269|PubMed:17036051, ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731, ECO:0000269|PubMed:19019741, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:19621064, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26627831, ECO:0000269|PubMed:26823428, ECO:0000269|PubMed:26846474, ECO:0000269|PubMed:27714810, ECO:0000269|PubMed:27941075, ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:8910473, ECO:0000269|PubMed:9804160, ECO:0000305|PubMed:19923167}.

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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Fusion Gene Sequence for NRCAM-CFTR


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for NRCAM-CFTR


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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Related Drugs for NRCAM-CFTR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCFTRP13569DB00887BumetanideAntagonistSmall moleculeApproved
TgeneCFTRP13569DB00887BumetanideAntagonistSmall moleculeApproved
TgeneCFTRP13569DB01016GlyburideAntagonistSmall moleculeApproved
TgeneCFTRP13569DB01016GlyburideAntagonistSmall moleculeApproved
TgeneCFTRP13569DB01050IbuprofenInhibitorSmall moleculeApproved
TgeneCFTRP13569DB01050IbuprofenInhibitorSmall moleculeApproved
TgeneCFTRP13569DB04941CrofelemerAntagonistSmall moleculeApproved
TgeneCFTRP13569DB04941CrofelemerAntagonistSmall moleculeApproved
TgeneCFTRP13569DB08820IvacaftorPotentiatorSmall moleculeApproved
TgeneCFTRP13569DB08820IvacaftorPotentiatorSmall moleculeApproved
TgeneCFTRP13569DB09280LumacaftorModulatorSmall moleculeApproved
TgeneCFTRP13569DB09280LumacaftorModulatorSmall moleculeApproved
TgeneCFTRP13569DB09213DexibuprofenInhibitorSmall moleculeApproved|Investigational
TgeneCFTRP13569DB09213DexibuprofenInhibitorSmall moleculeApproved|Investigational
TgeneCFTRP13569DB11712TezacaftorActivatorSmall moleculeApproved|Investigational
TgeneCFTRP13569DB11712TezacaftorActivatorSmall moleculeApproved|Investigational
TgeneCFTRP13569DB15444ElexacaftorModulatorSmall moleculeApproved|Investigational
TgeneCFTRP13569DB15444ElexacaftorModulatorSmall moleculeApproved|Investigational

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Related Diseases for NRCAM-CFTR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNRCAMC0004352Autistic Disorder2CTD_human
HgeneNRCAMC0009402Colorectal Carcinoma2CTD_human
HgeneNRCAMC0009404Colorectal Neoplasms2CTD_human
HgeneNRCAMC0006142Malignant neoplasm of breast1CTD_human;UNIPROT
HgeneNRCAMC0013146Drug abuse1CTD_human
HgeneNRCAMC0013170Drug habituation1CTD_human
HgeneNRCAMC0013222Drug Use Disorders1CTD_human
HgeneNRCAMC0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneNRCAMC0038580Substance Dependence1CTD_human
HgeneNRCAMC0038586Substance Use Disorders1CTD_human
HgeneNRCAMC0236969Substance-Related Disorders1CTD_human
HgeneNRCAMC0678222Breast Carcinoma1CTD_human
HgeneNRCAMC0740858Substance abuse problem1CTD_human
HgeneNRCAMC1257931Mammary Neoplasms, Human1CTD_human
HgeneNRCAMC1458155Mammary Neoplasms1CTD_human
HgeneNRCAMC1510472Drug Dependence1CTD_human
HgeneNRCAMC4316881Prescription Drug Abuse1CTD_human
HgeneNRCAMC4704874Mammary Carcinoma, Human1CTD_human
TgeneCFTRC0010674Cystic Fibrosis91CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCFTRC0392164Pulmonary Cystic Fibrosis15CTD_human
TgeneCFTRC1527396Fibrocystic Disease of Pancreas15CTD_human
TgeneCFTRC0403814Congenital bilateral aplasia of vas deferens8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCFTRC0238339Hereditary pancreatitis3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneCFTRC0021364Male infertility2CTD_human
TgeneCFTRC0030305Pancreatitis2CTD_human
TgeneCFTRC0267937Acute recurrent pancreatitis2ORPHANET
TgeneCFTRC0339985Idiopathic bronchiectasis2ORPHANET
TgeneCFTRC0848676Subfertility, Male2CTD_human
TgeneCFTRC0917731Male sterility2CTD_human
TgeneCFTRC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneCFTRC0004509Azoospermia1CTD_human
TgeneCFTRC0008340Choledochal Cyst1CTD_human
TgeneCFTRC0008370Cholestasis1GENOMICS_ENGLAND
TgeneCFTRC0009402Colorectal Carcinoma1CTD_human
TgeneCFTRC0009404Colorectal Neoplasms1CTD_human
TgeneCFTRC0009439Choledochal Cyst, Type I1CTD_human
TgeneCFTRC0013146Drug abuse1CTD_human
TgeneCFTRC0013170Drug habituation1CTD_human
TgeneCFTRC0013222Drug Use Disorders1CTD_human
TgeneCFTRC0019284Diaphragmatic Hernia1CTD_human
TgeneCFTRC0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneCFTRC0035455Rhinitis1CTD_human
TgeneCFTRC0037199Sinusitis1CTD_human
TgeneCFTRC0038580Substance Dependence1CTD_human
TgeneCFTRC0038586Substance Use Disorders1CTD_human
TgeneCFTRC0085548Autosomal Recessive Polycystic Kidney Disease1CTD_human
TgeneCFTRC0149521Pancreatitis, Chronic1CTD_human
TgeneCFTRC0236969Substance-Related Disorders1CTD_human
TgeneCFTRC0740858Substance abuse problem1CTD_human
TgeneCFTRC1257796Choledochal Cyst, Type II1CTD_human
TgeneCFTRC1257797Choledochal Cyst, Type III1CTD_human
TgeneCFTRC1257798Choledochal Cyst, Type IV1CTD_human
TgeneCFTRC1257799Choledochal Cyst, Type V1CTD_human
TgeneCFTRC1510472Drug Dependence1CTD_human
TgeneCFTRC4316881Prescription Drug Abuse1CTD_human