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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:NF1-CCDC47

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NF1-CCDC47
FusionPDB ID: 58675
FusionGDB2.0 ID: 58675
HgeneTgene
Gene symbol

NF1

CCDC47

Gene ID

4763

57003

Gene nameneurofibromin 1coiled-coil domain containing 47
SynonymsNFNS|VRNF|WSSGK001|MSTP041|THNS
Cytomap

17q11.2

17q23.3

Type of geneprotein-codingprotein-coding
Descriptionneurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1coiled-coil domain-containing protein 47Calumin
Modification date2020032220200313
UniProtAcc

P21359

Q96A33

Ensembl transtripts involved in fusion geneENST idsENST00000358273, ENST00000356175, 
ENST00000417592, ENST00000431387, 
ENST00000444181, ENST00000581113, 
ENST00000582252, ENST00000403162, 
ENST00000225726, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score47 X 26 X 21=256628 X 7 X 5=280
# samples 698
** MAII scorelog2(69/25662*10)=-5.21689344093196
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NF1 [Title/Abstract] AND CCDC47 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NF1(29580018)-CCDC47(61824321), # samples:2
Anticipated loss of major functional domain due to fusion event.NF1-CCDC47 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NF1-CCDC47 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NF1-CCDC47 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
NF1-CCDC47 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
NF1-CCDC47 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
NF1-CCDC47 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
NF1-CCDC47 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneNF1

GO:0043547

positive regulation of GTPase activity

2121371


check buttonFusion gene breakpoints across NF1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CCDC47 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4HNSCTCGA-CQ-7069NF1chr17

29580018

+CCDC47chr17

61824321

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000358273NF1chr1729580018+ENST00000225726CCDC47chr1761824321-6268455625446361460

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
ENST00000358273ENST00000225726NF1chr1729580018+CCDC47chr1761824321-0.0002780030.99972194

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>58675_58675_1_NF1-CCDC47_NF1_chr17_29580018_ENST00000358273_CCDC47_chr17_61824321_ENST00000225726_length(amino acids)=1460AA_BP=1434
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENY
PDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLT
ESAAIACVKLCKASTYINWEDNSVIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFH
YVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMV
KLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTS
HQMLSSTEILKWLREILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRKGKGNSSMDSAAGCSGTP
PICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIE
HPTAGNTEAWEDTHAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINMTGFLCALGGVCLQQRSN
SGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLSLMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDS
QGQVLLTDTNTQFVEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVEVMMARRDDLSFCQEMKF
RNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQT
GGRKRGMSRRLASLRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETVLADRFERLVELVTMMGD
QGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNMFSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRI
VITSSDWQHVSFEVDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQATCHSLLNKATVKEKKENKKSEAALRR

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:29580018/chr17:61824321)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NF1

P21359

CCDC47

Q96A33

FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269|PubMed:2121371, ECO:0000269|PubMed:8417346}.FUNCTION: Component of the PAT complex, an endoplasmic reticulum (ER)-resident membrane multiprotein complex that facilitates multi-pass membrane proteins insertion into membranes (PubMed:32814900). The PAT complex acts as an intramembrane chaperone by directly interacting with nascent transmembrane domains (TMDs), releasing its substrates upon correct folding, and is needed for optimal biogenesis of multi-pass membrane proteins (PubMed:32814900). WDR83OS/Asterix is the substrate-interacting subunit of the PAT complex, whereas CCDC47 is required to maintain the stability of WDR83OS/Asterix (PubMed:32814900). The PAT complex favors the binding to TMDs with exposed hydrophilic amino acids within the lipid bilayer and provides a membrane-embedded partially hydrophilic environment in which the first transmembrane domain binds (PubMed:32814900). Component of a ribosome-associated ER translocon complex involved in multi-pass membrane protein transport into the ER membrane and biogenesis (PubMed:32820719). Involved in the regulation of calcium ion homeostasis in the ER (PubMed:30401460). Required for proper protein degradation via the ERAD (ER-associated degradation) pathway (PubMed:25009997). Has an essential role in the maintenance of ER organization during embryogenesis (By similarity). {ECO:0000250|UniProtKB:Q9D024, ECO:0000269|PubMed:25009997, ECO:0000269|PubMed:30401460, ECO:0000269|PubMed:32814900, ECO:0000269|PubMed:32820719}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNF1chr17:29580018chr17:61824321ENST00000358273+31581352_13551391.02840.0Compositional biasNote=Poly-Ser
TgeneCCDC47chr17:29580018chr17:61824321ENST00000582252012450_4830481.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC47chr17:29580018chr17:61824321ENST00000582252012136_1550481.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNF1chr17:29580018chr17:61824321ENST00000356175+1571352_135502819.0Compositional biasNote=Poly-Ser
HgeneNF1chr17:29580018chr17:61824321ENST00000431387+1151352_13550594.0Compositional biasNote=Poly-Ser
HgeneNF1chr17:29580018chr17:61824321ENST00000356175+1571235_145102819.0DomainRas-GAP
HgeneNF1chr17:29580018chr17:61824321ENST00000356175+1571580_173802819.0DomainCRAL-TRIO
HgeneNF1chr17:29580018chr17:61824321ENST00000358273+31581235_14511391.02840.0DomainRas-GAP
HgeneNF1chr17:29580018chr17:61824321ENST00000358273+31581580_17381391.02840.0DomainCRAL-TRIO
HgeneNF1chr17:29580018chr17:61824321ENST00000431387+1151235_14510594.0DomainRas-GAP
HgeneNF1chr17:29580018chr17:61824321ENST00000431387+1151580_17380594.0DomainCRAL-TRIO
HgeneNF1chr17:29580018chr17:61824321ENST00000356175+1572555_257102819.0MotifNote=Bipartite nuclear localization signal
HgeneNF1chr17:29580018chr17:61824321ENST00000358273+31582555_25711391.02840.0MotifNote=Bipartite nuclear localization signal
HgeneNF1chr17:29580018chr17:61824321ENST00000431387+1152555_25710594.0MotifNote=Bipartite nuclear localization signal
HgeneNF1chr17:29580018chr17:61824321ENST00000356175+1571580_183702819.0RegionNote=Lipid binding
HgeneNF1chr17:29580018chr17:61824321ENST00000358273+31581580_18371391.02840.0RegionNote=Lipid binding
HgeneNF1chr17:29580018chr17:61824321ENST00000431387+1151580_18370594.0RegionNote=Lipid binding
TgeneCCDC47chr17:29580018chr17:61824321ENST000002257261113450_483457.0484.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC47chr17:29580018chr17:61824321ENST000004031621214450_483457.0484.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC47chr17:29580018chr17:61824321ENST000002257261113136_155457.0484.0TransmembraneHelical
TgeneCCDC47chr17:29580018chr17:61824321ENST000004031621214136_155457.0484.0TransmembraneHelical


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
NF1HRAS, SMARCA4, POLR2A, TIRAP, SIRT7, VCP, NSFL1C, CAV1, YWHAB, FAF2, NXF1, CCDC8, HLA-DPA1, EFNB2, CD274, TNFSF13B, CA14, SLAMF1, VSIG4, TGOLN2, HTR6, NOSIP, KRAS, CLK1, CDC5L, APP, YWHAH, PML, TRAF6, PTEN, SDC2, EGFR, CD79B, P4HA3, SCN3B, VSIG1, SIGLECL1, EPHA1, FAM174A, KCTD3, KIF13B, ZBTB21, KSR1, CGN, GIGYF1, LRFN1, RTKN, MAST3, DENND1A, SH3PXD2A, SRGAP2, DENND4C, PPM1H, EIF4E2, SIPA1L1, LIMA1, RALGPS2, MAGI1, CBY1, TESK2, CDC25C, DCLK1, GIGYF2, HDAC4, LPIN3, ZNF638, CAMSAP2, NADK, MAPKAP1, SRSF12, RASAL2, SYDE1, KIAA1804, TIAM1, AGAP1, CDC25B, CDK16, SH3RF3, PHLDB2, PLEKHA7, KIF1C, OSBPL6, FAM110B, USP21, NAV1, TANC2, PTPN13, FAM53C, ANKRD34A, STARD13, PTPN14, GAB2, DENND4A, INPP5E, TOP1, TOP2A, TOP3A, NRAS, ZUFSP, ESR2, LZTR1, SPRED1, MYC, LIMK2, KIAA1429, CTDP1, DYRK1A, F12, AKT1, EPHA2, MAP2K3, RAF1, SOX4, BIRC3, ORF7a, LCK, NOLC1, N, nsp7, KIF14, PRC1, MKI67, FASN, NR3C1, DDRGK1, FLOT1, LYN, PFN1, RHOB, ATG7, EFS, C19orf38, CDHR2, ITFG3, CD80, SEMA4C, DGCR2, EFNA4, PTGES2, LRRC25, EVI2A, EFNB1, TPST2, C3orf18, GYPA, HCST, TACSTD2, OPALIN, IL2RA, CD226, SIRT6,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
NF1all structure
CCDC47


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to NF1-CCDC47


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to NF1-CCDC47


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNF1C0027831Neurofibromatosis 144CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneNF1C1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome10CLINGEN
HgeneNF1C0349639Juvenile Myelomonocytic Leukemia7CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneNF1C2931482Neurofibromatosis-Noonan syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneNF1C0553586Cafe-au-lait macules with pulmonary stenosis5CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneNF1C0162678Neurofibromatoses3CGI;CTD_human;GENOMICS_ENGLAND
HgeneNF1C0004114Astrocytoma2CTD_human
HgeneNF1C0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneNF1C0025202melanoma2CGI;CTD_human
HgeneNF1C0026998Acute Myeloid Leukemia, M12CTD_human
HgeneNF1C0205768Subependymal Giant Cell Astrocytoma2CTD_human
HgeneNF1C0206727Nerve Sheath Tumors2CTD_human
HgeneNF1C0280783Juvenile Pilocytic Astrocytoma2CTD_human
HgeneNF1C0280785Diffuse Astrocytoma2CTD_human
HgeneNF1C0334579Anaplastic astrocytoma2CTD_human
HgeneNF1C0334580Protoplasmic astrocytoma2CTD_human
HgeneNF1C0334581Gemistocytic astrocytoma2CTD_human
HgeneNF1C0334582Fibrillary Astrocytoma2CTD_human
HgeneNF1C0334583Pilocytic Astrocytoma2CTD_human
HgeneNF1C0338070Childhood Cerebral Astrocytoma2CTD_human
HgeneNF1C0547065Mixed oligoastrocytoma2CTD_human
HgeneNF1C0750935Cerebral Astrocytoma2CTD_human
HgeneNF1C0750936Intracranial Astrocytoma2CTD_human
HgeneNF1C0751689Peripheral Nerve Sheath Neoplasm2CTD_human
HgeneNF1C0751691Perineurioma2CTD_human
HgeneNF1C1704230Grade I Astrocytoma2CTD_human
HgeneNF1C1834235NEUROFIBROMATOSIS, FAMILIAL SPINAL2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneNF1C1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
HgeneNF1C0001430Adenoma1CTD_human
HgeneNF1C0004352Autistic Disorder1CTD_human
HgeneNF1C0016057Fibrosarcoma1CTD_human
HgeneNF1C0017636Glioblastoma1CTD_human
HgeneNF1C0017638Glioma1CGI;CTD_human
HgeneNF1C0020796Profound Mental Retardation1CTD_human
HgeneNF1C0023186Learning Disorders1CTD_human
HgeneNF1C0023827liposarcoma1CTD_human
HgeneNF1C0025363Mental Retardation, Psychosocial1CTD_human
HgeneNF1C0026654Moyamoya Disease1GENOMICS_ENGLAND
HgeneNF1C0027809Neurilemmoma1CTD_human
HgeneNF1C0027830neurofibroma1CTD_human
HgeneNF1C0027962Melanocytic nevus1CTD_human
HgeneNF1C0028326Noonan Syndrome1GENOMICS_ENGLAND
HgeneNF1C0031511Pheochromocytoma1CTD_human
HgeneNF1C0035320Retinal Neovascularization1CTD_human
HgeneNF1C0205646Adenoma, Basal Cell1CTD_human
HgeneNF1C0205647Follicular adenoma1CTD_human
HgeneNF1C0205648Adenoma, Microcystic1CTD_human
HgeneNF1C0205649Adenoma, Monomorphic1CTD_human
HgeneNF1C0205650Papillary adenoma1CTD_human
HgeneNF1C0205651Adenoma, Trabecular1CTD_human
HgeneNF1C0205824Liposarcoma, Dedifferentiated1CTD_human
HgeneNF1C0205825Liposarcoma, Pleomorphic1CTD_human
HgeneNF1C0205944Sarcoma, Epithelioid1CTD_human
HgeneNF1C0205945Sarcoma, Spindle Cell1CTD_human
HgeneNF1C0259783mixed gliomas1CTD_human
HgeneNF1C0334588Giant Cell Glioblastoma1CTD_human
HgeneNF1C0555198Malignant Glioma1CTD_human
HgeneNF1C0751262Adult Learning Disorders1CTD_human
HgeneNF1C0751263Learning Disturbance1CTD_human
HgeneNF1C0751265Learning Disabilities1CTD_human
HgeneNF1C0751374Schwannomatosis, Plexiform1CTD_human
HgeneNF1C0917816Mental deficiency1CTD_human
HgeneNF1C0917817Neurofibromatosis 31CTD_human
HgeneNF1C1257877Pheochromocytoma, Extra-Adrenal1CTD_human
HgeneNF1C1261473Sarcoma1CTD_human
HgeneNF1C1330966Developmental Academic Disorder1CTD_human
HgeneNF1C1370889Liposarcoma, well differentiated1CTD_human
HgeneNF1C1621958Glioblastoma Multiforme1CTD_human
HgeneNF1C3150928NF1 Microdeletion Syndrome1ORPHANET
HgeneNF1C3714756Intellectual Disability1CTD_human