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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:SLC8A1-RAB6A (FusionGDB2 ID:82944)

Fusion Gene Summary for SLC8A1-RAB6A

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC8A1-RAB6A
Fusion gene ID: 82944
HgeneTgene
Gene symbol

SLC8A1

RAB6A

Gene ID

6546

5870

Gene namesolute carrier family 8 member A1RAB6A, member RAS oncogene family
SynonymsNCX1RAB6
Cytomap

2p22.1

11q13.4

Type of geneprotein-codingprotein-coding
Descriptionsodium/calcium exchanger 1Na(+)/Ca(2+)-exchange protein 1Na+/Ca++ exchangerNa+/Ca2+ exchangersolute carrier family 8 (sodium/calcium exchanger), member 1solute carrier family 8 member 1ras-related protein Rab-6ARAB6, member RAS oncogene familyRab GTPase
Modification date2020031320200313
UniProtAcc.

RGP1

Ensembl transtripts involved in fusion geneENST00000406785, ENST00000542756, 
ENST00000403092, ENST00000405901, 
ENST00000402441, ENST00000405269, 
ENST00000542024, ENST00000332839, 
ENST00000406391, ENST00000408028, 
ENST00000310653, ENST00000336083, 
ENST00000536566, ENST00000541588, 
Fusion gene scores* DoF score5 X 5 X 2=5020 X 15 X 10=3000
# samples 529
** MAII scorelog2(5/50*10)=0log2(29/3000*10)=-3.37083769536831
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC8A1 [Title/Abstract] AND RAB6A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSLC8A1(40739488)-RAB6A(73418560), # 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
HgeneSLC8A1

GO:0006883

cellular sodium ion homeostasis

1374913

HgeneSLC8A1

GO:0070509

calcium ion import

1374913

HgeneSLC8A1

GO:0098719

sodium ion import across plasma membrane

1374913

TgeneRAB6A

GO:0018125

peptidyl-cysteine methylation

11121396

TgeneRAB6A

GO:0034067

protein localization to Golgi apparatus

12447383|18243103


check buttonFusion gene breakpoints across SLC8A1 (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 RAB6A (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
ChiTaRS5.0N/ADB253719SLC8A1chr2

40739488

-RAB6Achr11

73418560

-


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Fusion Gene ORF analysis for SLC8A1-RAB6A

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-3CDSENST00000406785ENST00000310653SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000406785ENST00000336083SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000406785ENST00000536566SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-intronENST00000406785ENST00000541588SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000542756ENST00000310653SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000542756ENST00000336083SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000542756ENST00000536566SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-intronENST00000542756ENST00000541588SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
5UTR-3CDSENST00000403092ENST00000310653SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
5UTR-3CDSENST00000403092ENST00000336083SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
5UTR-3CDSENST00000403092ENST00000536566SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
5UTR-intronENST00000403092ENST00000541588SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000405901ENST00000310653SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000405901ENST00000336083SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000405901ENST00000536566SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-intronENST00000405901ENST00000541588SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
5UTR-3CDSENST00000402441ENST00000310653SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
5UTR-3CDSENST00000402441ENST00000336083SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
5UTR-3CDSENST00000402441ENST00000536566SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
5UTR-intronENST00000402441ENST00000541588SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000405269ENST00000310653SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000405269ENST00000336083SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000405269ENST00000536566SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-intronENST00000405269ENST00000541588SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000542024ENST00000310653SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000542024ENST00000336083SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000542024ENST00000536566SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-intronENST00000542024ENST00000541588SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000332839ENST00000310653SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000332839ENST00000336083SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000332839ENST00000536566SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-intronENST00000332839ENST00000541588SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000406391ENST00000310653SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000406391ENST00000336083SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000406391ENST00000536566SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-intronENST00000406391ENST00000541588SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000408028ENST00000310653SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000408028ENST00000336083SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-3CDSENST00000408028ENST00000536566SLC8A1chr2

40739488

-RAB6Achr11

73418560

-
intron-intronENST00000408028ENST00000541588SLC8A1chr2

40739488

-RAB6Achr11

73418560

-

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 SLC8A1-RAB6A


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 SLC8A1-RAB6A


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
.RAB6A

RGP1

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.1748

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 SLC8A1-RAB6A


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 SLC8A1-RAB6A


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 SLC8A1-RAB6A


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 SLC8A1-RAB6A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC8A1C0025160Megacolon2CTD_human
HgeneSLC8A1C0022333Jacksonian Seizure1CTD_human
HgeneSLC8A1C0027055Myocardial Reperfusion Injury1CTD_human
HgeneSLC8A1C0036572Seizures1CTD_human
HgeneSLC8A1C0038220Status Epilepticus1CTD_human
HgeneSLC8A1C0149958Complex partial seizures1CTD_human
HgeneSLC8A1C0151744Myocardial Ischemia1CTD_human
HgeneSLC8A1C0234533Generalized seizures1CTD_human
HgeneSLC8A1C0234535Clonic Seizures1CTD_human
HgeneSLC8A1C0270823Petit mal status1CTD_human
HgeneSLC8A1C0270824Visual seizure1CTD_human
HgeneSLC8A1C0270844Tonic Seizures1CTD_human
HgeneSLC8A1C0270846Epileptic drop attack1CTD_human
HgeneSLC8A1C0311335Grand Mal Status Epilepticus1CTD_human
HgeneSLC8A1C0393734Complex Partial Status Epilepticus1CTD_human
HgeneSLC8A1C0422850Seizures, Somatosensory1CTD_human
HgeneSLC8A1C0422852Seizures, Auditory1CTD_human
HgeneSLC8A1C0422853Olfactory seizure1CTD_human
HgeneSLC8A1C0422854Gustatory seizure1CTD_human
HgeneSLC8A1C0422855Vertiginous seizure1CTD_human
HgeneSLC8A1C0494475Tonic - clonic seizures1CTD_human
HgeneSLC8A1C0751056Non-epileptic convulsion1CTD_human
HgeneSLC8A1C0751110Single Seizure1CTD_human
HgeneSLC8A1C0751123Atonic Absence Seizures1CTD_human
HgeneSLC8A1C0751494Convulsive Seizures1CTD_human
HgeneSLC8A1C0751495Seizures, Focal1CTD_human
HgeneSLC8A1C0751496Seizures, Sensory1CTD_human
HgeneSLC8A1C0751522Status Epilepticus, Subclinical1CTD_human
HgeneSLC8A1C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneSLC8A1C0751524Simple Partial Status Epilepticus1CTD_human
HgeneSLC8A1C3495874Nonepileptic Seizures1CTD_human
HgeneSLC8A1C4048158Convulsions1CTD_human
HgeneSLC8A1C4316903Absence Seizures1CTD_human
HgeneSLC8A1C4317109Epileptic Seizures1CTD_human
HgeneSLC8A1C4317123Myoclonic Seizures1CTD_human
HgeneSLC8A1C4505436Generalized Absence Seizures1CTD_human