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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:SFTPC-CD68 (FusionGDB2 ID:80630)

Fusion Gene Summary for SFTPC-CD68

check button Fusion gene summary
Fusion gene informationFusion gene name: SFTPC-CD68
Fusion gene ID: 80630
HgeneTgene
Gene symbol

SFTPC

CD68

Gene ID

6440

968

Gene namesurfactant protein CCD68 molecule
SynonymsBRICD6|PSP-C|SFTP2|SMDP2|SP-C|SP5GP110|LAMP4|SCARD1
Cytomap

8p21.3

17p13.1

Type of geneprotein-codingprotein-coding
Descriptionpulmonary surfactant-associated protein CBRICHOS domain containing 6pulmonary surfactant apoprotein-2 SP-Cpulmonary surfactant-associated proteolipid SPL(Val)macrosialinCD68 antigenmacrophage antigen CD68scavenger receptor class D, member 1
Modification date2020032920200313
UniProtAcc.

P34810

Ensembl transtripts involved in fusion geneENST00000318561, ENST00000521315, 
ENST00000437090, ENST00000520605, 
ENST00000522109, ENST00000524255, 
ENST00000522880, 		ENST00000250092, 
ENST00000380498, 
Fusion gene scores* DoF score9 X 7 X 4=2527 X 8 X 3=168
# samples 98
** MAII scorelog2(9/252*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SFTPC [Title/Abstract] AND CD68 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSFTPC(22020192)-CD68(7483251), # samples:1
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

check buttonFusion gene breakpoints across SFTPC (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 CD68 (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
ChimerDB4LUSCTCGA-51-4080-11ASFTPCchr8

22020192

-CD68chr17

7483251

+


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Fusion Gene ORF analysis for SFTPC-CD68

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
Frame-shiftENST00000318561ENST00000250092SFTPCchr8

22020192

-CD68chr17

7483251

+
Frame-shiftENST00000318561ENST00000380498SFTPCchr8

22020192

-CD68chr17

7483251

+
Frame-shiftENST00000521315ENST00000250092SFTPCchr8

22020192

-CD68chr17

7483251

+
Frame-shiftENST00000521315ENST00000380498SFTPCchr8

22020192

-CD68chr17

7483251

+
Frame-shiftENST00000437090ENST00000250092SFTPCchr8

22020192

-CD68chr17

7483251

+
Frame-shiftENST00000437090ENST00000380498SFTPCchr8

22020192

-CD68chr17

7483251

+
intron-3CDSENST00000520605ENST00000250092SFTPCchr8

22020192

-CD68chr17

7483251

+
intron-3CDSENST00000520605ENST00000380498SFTPCchr8

22020192

-CD68chr17

7483251

+
Frame-shiftENST00000522109ENST00000250092SFTPCchr8

22020192

-CD68chr17

7483251

+
Frame-shiftENST00000522109ENST00000380498SFTPCchr8

22020192

-CD68chr17

7483251

+
intron-3CDSENST00000524255ENST00000250092SFTPCchr8

22020192

-CD68chr17

7483251

+
intron-3CDSENST00000524255ENST00000380498SFTPCchr8

22020192

-CD68chr17

7483251

+
intron-3CDSENST00000522880ENST00000250092SFTPCchr8

22020192

-CD68chr17

7483251

+
intron-3CDSENST00000522880ENST00000380498SFTPCchr8

22020192

-CD68chr17

7483251

+

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 SFTPC-CD68


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)

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 SFTPC-CD68


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
.CD68

P34810

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. Binds to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. Rapid recirculation of CD68 from endosomes and lysosomes to the plasma membrane may allow macrophages to crawl over selectin-bearing substrates or other cells.

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 SFTPC-CD68


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 SFTPC-CD68


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 SFTPC-CD68


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SFTPC-CD68


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSFTPCC1970470SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)7CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneSFTPCC0019284Diaphragmatic Hernia1CTD_human
HgeneSFTPCC0032460Polycystic Ovary Syndrome1CTD_human
HgeneSFTPCC0034050Pulmonary Alveolar Proteinosis1GENOMICS_ENGLAND
HgeneSFTPCC0085786Hamman-Rich syndrome1ORPHANET
HgeneSFTPCC0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneSFTPCC0206062Lung Diseases, Interstitial1GENOMICS_ENGLAND
HgeneSFTPCC1136382Sclerocystic Ovaries1CTD_human
HgeneSFTPCC1800706Idiopathic Pulmonary Fibrosis1CTD_human;ORPHANET
TgeneCD68C0000786Spontaneous abortion1CTD_human
TgeneCD68C0000822Abortion, Tubal1CTD_human
TgeneCD68C0002152Alloxan Diabetes1CTD_human
TgeneCD68C0003872Arthritis, Psoriatic1CTD_human
TgeneCD68C0005398Cholestasis, Extrahepatic1CTD_human
TgeneCD68C0011853Diabetes Mellitus, Experimental1CTD_human
TgeneCD68C0020459Hyperinsulinism1CTD_human
TgeneCD68C0021655Insulin Resistance1CTD_human
TgeneCD68C0022116Ischemia1CTD_human
TgeneCD68C0022661Kidney Failure, Chronic1CTD_human
TgeneCD68C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCD68C0028754Obesity1CTD_human
TgeneCD68C0038433Streptozotocin Diabetes1CTD_human
TgeneCD68C0920563Insulin Sensitivity1CTD_human
TgeneCD68C1257963Endogenous Hyperinsulinism1CTD_human
TgeneCD68C1257964Exogenous Hyperinsulinism1CTD_human
TgeneCD68C1257965Compensatory Hyperinsulinemia1CTD_human
TgeneCD68C1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
TgeneCD68C1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
TgeneCD68C3830362Early Pregnancy Loss1CTD_human
TgeneCD68C4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human
TgeneCD68C4552766Miscarriage1CTD_human