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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:SPTAN1-CADPS2 (FusionGDB2 ID:85508)

Fusion Gene Summary for SPTAN1-CADPS2

check button Fusion gene summary
Fusion gene informationFusion gene name: SPTAN1-CADPS2
Fusion gene ID: 85508
HgeneTgene
Gene symbol

SPTAN1

CADPS2

Gene ID

6709

93664

Gene namespectrin alpha, non-erythrocytic 1calcium dependent secretion activator 2
SynonymsEIEE5|NEAS|SPTA2CAPS2
Cytomap

9q34.11

7q31.32

Type of geneprotein-codingprotein-coding
Descriptionspectrin alpha chain, non-erythrocytic 1alpha-II spectrinalpha-fodrinepididymis secretory sperm binding proteinfodrin alpha chainspectrin, non-erythroid alpha chainspectrin, non-erythroid alpha subunitcalcium-dependent secretion activator 2CAPS-2Ca++-dependent secretion activator 2Ca2+ dependent secretion activator 2Ca2+-dependent activator protein for secretion 2calcium-dependent activator protein for secretion 2
Modification date2020031320200313
UniProtAcc.

Q86UW7

Ensembl transtripts involved in fusion geneENST00000358161, ENST00000372739, 
ENST00000372731, ENST00000475367, 
ENST00000313070, ENST00000334010, 
ENST00000412584, ENST00000449022, 
ENST00000476131, 
Fusion gene scores* DoF score20 X 20 X 10=400011 X 9 X 3=297
# samples 2611
** MAII scorelog2(26/4000*10)=-3.94341647163363
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/297*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPTAN1 [Title/Abstract] AND CADPS2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSPTAN1(131314975)-CADPS2(122377122), # samples:4
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 SPTAN1 (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 CADPS2 (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
ChimerDB4BRCATCGA-D8-A1JI-01ASPTAN1chr9

131314975

+CADPS2chr7

122377122

-
ChimerDB4BRCATCGA-D8-A1JISPTAN1chr9

131314975

+CADPS2chr7

122377122

-
ChimerDB4BRCATCGA-D8-A1JI-01ASPTAN1chr9

131314975

+CADPS2chr7

122377122

-
ChimerDB4BRCATCGA-D8-A1JI-01ASPTAN1chr9

131314975

+CADPS2chr7

122388730

-
ChimerDB4BRCATCGA-D8-A1JI-01ASPTAN1chr9

131314975

-CADPS2chr7

122377122

-


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Fusion Gene ORF analysis for SPTAN1-CADPS2

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-3CDSENST00000358161ENST00000313070SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-3CDSENST00000358161ENST00000334010SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-3CDSENST00000358161ENST00000412584SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-3CDSENST00000358161ENST00000449022SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-intronENST00000358161ENST00000476131SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-3CDSENST00000372739ENST00000313070SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-3CDSENST00000372739ENST00000334010SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-3CDSENST00000372739ENST00000412584SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-3CDSENST00000372739ENST00000449022SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-intronENST00000372739ENST00000476131SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-3CDSENST00000372731ENST00000313070SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-3CDSENST00000372731ENST00000334010SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-3CDSENST00000372731ENST00000412584SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-3CDSENST00000372731ENST00000449022SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-intronENST00000372731ENST00000476131SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
intron-3CDSENST00000475367ENST00000313070SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
intron-3CDSENST00000475367ENST00000334010SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
intron-3CDSENST00000475367ENST00000412584SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
intron-3CDSENST00000475367ENST00000449022SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
intron-intronENST00000475367ENST00000476131SPTAN1chr9

131314975

+CADPS2chr7

122377122

-
5UTR-intronENST00000358161ENST00000313070SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000358161ENST00000334010SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000358161ENST00000412584SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000358161ENST00000449022SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000358161ENST00000476131SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000372739ENST00000313070SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000372739ENST00000334010SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000372739ENST00000412584SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000372739ENST00000449022SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000372739ENST00000476131SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000372731ENST00000313070SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000372731ENST00000334010SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000372731ENST00000412584SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000372731ENST00000449022SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
5UTR-intronENST00000372731ENST00000476131SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
intron-intronENST00000475367ENST00000313070SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
intron-intronENST00000475367ENST00000334010SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
intron-intronENST00000475367ENST00000412584SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
intron-intronENST00000475367ENST00000449022SPTAN1chr9

131314975

+CADPS2chr7

122388730

-
intron-intronENST00000475367ENST00000476131SPTAN1chr9

131314975

+CADPS2chr7

122388730

-

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 SPTAN1-CADPS2


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 SPTAN1-CADPS2


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
.CADPS2

Q86UW7

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: Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during cerebellar development. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles (By similarity). {ECO:0000250}.

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 SPTAN1-CADPS2


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 SPTAN1-CADPS2


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 SPTAN1-CADPS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCADPS2Q86UW7DB11348Calcium PhosphateAgonistSmall moleculeApproved
TgeneCADPS2Q86UW7DB11348Calcium PhosphateAgonistSmall moleculeApproved
TgeneCADPS2Q86UW7DB11348Calcium PhosphateAgonistSmall moleculeApproved
TgeneCADPS2Q86UW7DB14481Calcium phosphate dihydrateSmall moleculeApproved
TgeneCADPS2Q86UW7DB14481Calcium phosphate dihydrateSmall moleculeApproved
TgeneCADPS2Q86UW7DB14481Calcium phosphate dihydrateSmall moleculeApproved
TgeneCADPS2Q86UW7DB11093Calcium citrateAgonistSmall moleculeApproved|Investigational
TgeneCADPS2Q86UW7DB11093Calcium citrateAgonistSmall moleculeApproved|Investigational
TgeneCADPS2Q86UW7DB11093Calcium citrateAgonistSmall moleculeApproved|Investigational

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Related Diseases for SPTAN1-CADPS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPTAN1C0037769West Syndrome2ORPHANET
HgeneSPTAN1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneSPTAN1C0270715Degenerative Diseases, Central Nervous System1CTD_human
HgeneSPTAN1C0524851Neurodegenerative Disorders1CTD_human
HgeneSPTAN1C0751733Degenerative Diseases, Spinal Cord1CTD_human
HgeneSPTAN1C3150731EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51CTD_human;GENOMICS_ENGLAND
TgeneCADPS2C0004352Autistic Disorder1CTD_human
TgeneCADPS2C0008370Cholestasis1CTD_human
TgeneCADPS2C0013146Drug abuse1CTD_human
TgeneCADPS2C0013170Drug habituation1CTD_human
TgeneCADPS2C0013222Drug Use Disorders1CTD_human
TgeneCADPS2C0019193Hepatitis, Toxic1CTD_human
TgeneCADPS2C0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneCADPS2C0036341Schizophrenia1PSYGENET
TgeneCADPS2C0038580Substance Dependence1CTD_human
TgeneCADPS2C0038586Substance Use Disorders1CTD_human
TgeneCADPS2C0236969Substance-Related Disorders1CTD_human
TgeneCADPS2C0740858Substance abuse problem1CTD_human
TgeneCADPS2C0860207Drug-Induced Liver Disease1CTD_human
TgeneCADPS2C1262760Hepatitis, Drug-Induced1CTD_human
TgeneCADPS2C1510472Drug Dependence1CTD_human
TgeneCADPS2C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneCADPS2C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneCADPS2C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneCADPS2C4316881Prescription Drug Abuse1CTD_human