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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:GFAP-SCD5 (FusionGDB2 ID:32821)

Fusion Gene Summary for GFAP-SCD5

check button Fusion gene summary
Fusion gene informationFusion gene name: GFAP-SCD5
Fusion gene ID: 32821
HgeneTgene
Gene symbol

GFAP

SCD5

Gene ID

2670

79966

Gene nameglial fibrillary acidic proteinstearoyl-CoA desaturase 5
SynonymsALXDRDACOD4|FADS4|HSCD5|SCD2|SCD4
Cytomap

17q21.31

4q21.22

Type of geneprotein-codingprotein-coding
Descriptionglial fibrillary acidic proteinstearoyl-CoA desaturase 5acyl-CoA-desaturase 4stearoyl-CoA 9-desaturasestearoyl-CoA desaturase 2stearoyl-CoA desaturase 4
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000253408, ENST00000588735, 
ENST00000435360, ENST00000586793, 
ENST00000591327, 		ENST00000319540, 
ENST00000273908, ENST00000282709, 
Fusion gene scores* DoF score28 X 17 X 2=9528 X 5 X 7=280
# samples 2911
** MAII scorelog2(29/952*10)=-1.71490867329301
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/280*10)=-1.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GFAP [Title/Abstract] AND SCD5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGFAP(42988711)-SCD5(83552505), # 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
HgeneGFAP

GO:0045109

intermediate filament organization

15732097

TgeneSCD5

GO:0006636

unsaturated fatty acid biosynthetic process

15907797


check buttonFusion gene breakpoints across GFAP (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 SCD5 (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
ChimerDB4LGGTCGA-DB-5273GFAPchr17

42988711

-SCD5chr4

83552505

-


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Fusion Gene ORF analysis for GFAP-SCD5

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
intron-3CDSENST00000253408ENST00000319540GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-intronENST00000253408ENST00000273908GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-intronENST00000253408ENST00000282709GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-3CDSENST00000588735ENST00000319540GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-intronENST00000588735ENST00000273908GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-intronENST00000588735ENST00000282709GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-3CDSENST00000435360ENST00000319540GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-intronENST00000435360ENST00000273908GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-intronENST00000435360ENST00000282709GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-3CDSENST00000586793ENST00000319540GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-intronENST00000586793ENST00000273908GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-intronENST00000586793ENST00000282709GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-3CDSENST00000591327ENST00000319540GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-intronENST00000591327ENST00000273908GFAPchr17

42988711

-SCD5chr4

83552505

-
intron-intronENST00000591327ENST00000282709GFAPchr17

42988711

-SCD5chr4

83552505

-

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 GFAP-SCD5


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 GFAP-SCD5


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
..
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: 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.

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 GFAP-SCD5


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 GFAP-SCD5


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 GFAP-SCD5


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 GFAP-SCD5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGFAPC0270726Alexander Disease30CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneGFAPC0011570Mental Depression3PSYGENET
HgeneGFAPC0011581Depressive disorder3PSYGENET
HgeneGFAPC0027765nervous system disorder3CTD_human
HgeneGFAPC0005586Bipolar Disorder2PSYGENET
HgeneGFAPC0036341Schizophrenia2PSYGENET
HgeneGFAPC0041696Unipolar Depression2PSYGENET
HgeneGFAPC1269683Major Depressive Disorder2PSYGENET
HgeneGFAPC0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneGFAPC0002736Amyotrophic Lateral Sclerosis1CTD_human
HgeneGFAPC0014544Epilepsy1CTD_human
HgeneGFAPC0017639Gliosis1CTD_human
HgeneGFAPC0020429Hyperalgesia1CTD_human
HgeneGFAPC0027873Neuromyelitis Optica1CTD_human
HgeneGFAPC0030567Parkinson Disease1CTD_human
HgeneGFAPC0036572Seizures1GENOMICS_ENGLAND
HgeneGFAPC0037917Spina Bifida Cystica1CTD_human
HgeneGFAPC0040997Trigeminal Neuralgia1CTD_human
HgeneGFAPC0086237Epilepsy, Cryptogenic1CTD_human
HgeneGFAPC0236018Aura1CTD_human
HgeneGFAPC0393554Amyotrophic Lateral Sclerosis With Dementia1CTD_human
HgeneGFAPC0393786Trigeminal Neuralgia, Idiopathic1CTD_human
HgeneGFAPC0393787Secondary Trigeminal Neuralgia1CTD_human
HgeneGFAPC0458247Allodynia1CTD_human
HgeneGFAPC0543859Amyotrophic Lateral Sclerosis, Guam Form1CTD_human
HgeneGFAPC0751111Awakening Epilepsy1CTD_human
HgeneGFAPC0751211Hyperalgesia, Primary1CTD_human
HgeneGFAPC0751212Hyperalgesia, Secondary1CTD_human
HgeneGFAPC0751213Tactile Allodynia1CTD_human
HgeneGFAPC0751214Hyperalgesia, Thermal1CTD_human
HgeneGFAPC0752347Lewy Body Disease1CTD_human
HgeneGFAPC0917813Spina Bifida, Open1CTD_human
HgeneGFAPC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
HgeneGFAPC1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
HgeneGFAPC2931673Ceroid lipofuscinosis, neuronal 1, infantile1CTD_human
HgeneGFAPC2936719Mechanical Allodynia1CTD_human
HgeneGFAPC3887640Astrocytosis1CTD_human
HgeneGFAPC4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human
HgeneGFAPC4721453Peripheral Nervous System Diseases1CTD_human