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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:ACTR1A-SLC2A1 (FusionGDB2 ID:HG10121TG6513)

Fusion Gene Summary for ACTR1A-SLC2A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTR1A-SLC2A1
Fusion gene ID: hg10121tg6513
HgeneTgene
Gene symbol

ACTR1A

SLC2A1

Gene ID

10121

6513

Gene nameactin related protein 1Asolute carrier family 2 member 1
SynonymsARP1|Arp1A|CTRN1CSE|DYT17|DYT18|DYT9|EIG12|GLUT|GLUT-1|GLUT1|GLUT1DS|HTLVR|PED|SDCHCN
Cytomap('ACTR1A')('SLC2A1')

10q24.32

1p34.2

Type of geneprotein-codingprotein-coding
Descriptionalpha-centractinARP1 actin related protein 1 homolog AARP1 actin-related protein 1 homolog A, centractin alphaactin-RPVcentractincentrosome-associated actin homologepididymis secretory sperm binding proteinsolute carrier family 2, facilitated glucose transporter member 1choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)glucose transporter type 1, erythrocyte/brainhepG2 glucose transporterhuman T-cell leukemia virus (I and II) r
Modification date2020031320200322
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000369905, ENST00000446605, 
ENST00000470322, ENST00000487599, 
ENST00000545684, 
Fusion gene scores* DoF score9 X 6 X 6=3247 X 6 X 4=168
# samples 97
** MAII scorelog2(9/324*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACTR1A [Title/Abstract] AND SLC2A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACTR1A(104240498)-SLC2A1(43396424), # 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
TgeneSLC2A1

GO:0065003

protein-containing complex assembly

18347014

TgeneSLC2A1

GO:1904659

glucose transmembrane transport

2211693|18245775|25982116|27078104



check button Fusion gene information
* 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


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Fusion Gene ORF analysis for ACTR1A-SLC2A1

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

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 ACTR1A-SLC2A1


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)


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Fusion Protein Features for ACTR1A-SLC2A1


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/:104240498/:43396424)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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 ACTR1A-SLC2A1


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 ACTR1A-SLC2A1


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 ACTR1A-SLC2A1


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 ACTR1A-SLC2A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4551966GLUT1 DEFICIENCY SYNDROME 125CLINGEN;GENOMICS_ENGLAND;UNIPROT
TgeneC1842534DYSTONIA 18 (disorder)15CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1847501Glut1 Deficiency Syndrome12CLINGEN;CTD_human;ORPHANET
TgeneC3149117GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE8CLINGEN
TgeneC3553859EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 126GENOMICS_ENGLAND;UNIPROT
TgeneC0036572Seizures4CTD_human;GENOMICS_ENGLAND
TgeneC0008073Developmental Disabilities3CTD_human
TgeneC0013421Dystonia3GENOMICS_ENGLAND
TgeneC0022333Jacksonian Seizure3CTD_human
TgeneC0085996Child Development Deviations3CTD_human
TgeneC0085997Child Development Disorders, Specific3CTD_human
TgeneC0149958Complex partial seizures3CTD_human
TgeneC0234533Generalized seizures3CTD_human
TgeneC0234535Clonic Seizures3CTD_human
TgeneC0270824Visual seizure3CTD_human
TgeneC0270844Tonic Seizures3CTD_human
TgeneC0270846Epileptic drop attack3CTD_human
TgeneC0422850Seizures, Somatosensory3CTD_human
TgeneC0422852Seizures, Auditory3CTD_human
TgeneC0422853Olfactory seizure3CTD_human
TgeneC0422854Gustatory seizure3CTD_human
TgeneC0422855Vertiginous seizure3CTD_human
TgeneC0494475Tonic - clonic seizures3CTD_human
TgeneC0751056Non-epileptic convulsion3CTD_human
TgeneC0751110Single Seizure3CTD_human
TgeneC0751123Atonic Absence Seizures3CTD_human
TgeneC0751494Convulsive Seizures3CTD_human
TgeneC0751495Seizures, Focal3CTD_human
TgeneC0751496Seizures, Sensory3CTD_human
TgeneC1832855CHOREOATHETOSIS/SPASTICITY, EPISODIC3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1837206Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3495874Nonepileptic Seizures3CTD_human
TgeneC4048158Convulsions3CTD_human
TgeneC4316903Absence Seizures3CTD_human
TgeneC4317109Epileptic Seizures3CTD_human
TgeneC4317123Myoclonic Seizures3CTD_human
TgeneC4505436Generalized Absence Seizures3CTD_human
TgeneC0025958Microcephaly2CTD_human
TgeneC0270850Idiopathic generalized epilepsy2GENOMICS_ENGLAND
TgeneC0272048stomatocytic anemia2GENOMICS_ENGLAND
TgeneC0677598Stomatocytosis Result2GENOMICS_ENGLAND
TgeneC1838604EPILEPSY, CHILDHOOD ABSENCE, 12ORPHANET
TgeneC1956147Microlissencephaly2CTD_human
TgeneC3714756Intellectual Disability2CTD_human;GENOMICS_ENGLAND
TgeneC3853041Severe Congenital Microcephaly2CTD_human
TgeneC0004134Ataxia1CTD_human
TgeneC0004138Ataxias, Hereditary1GENOMICS_ENGLAND
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0007124Noninfiltrating Intraductal Carcinoma1CTD_human
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0020796Profound Mental Retardation1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0025363Mental Retardation, Psychosocial1CTD_human
TgeneC0025521Inborn Errors of Metabolism1CTD_human
TgeneC0027125Myotonia1GENOMICS_ENGLAND
TgeneC0027765nervous system disorder1CTD_human
TgeneC0029408Degenerative polyarthritis1CTD_human
TgeneC0031149Peritoneal Neoplasms1CTD_human
TgeneC0037772Spastic Paraplegia1GENOMICS_ENGLAND
TgeneC0086543Cataract1GENOMICS_ENGLAND
TgeneC0086743Osteoarthrosis Deformans1CTD_human
TgeneC0240991Ataxia, Sensory1CTD_human
TgeneC0278161Ataxia, Motor1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC0345967Malignant mesothelioma1CTD_human
TgeneC0346990Carcinomatosis of peritoneal cavity1CTD_human
TgeneC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneC0427190Ataxia, Truncal1CTD_human
TgeneC0520966Abnormal coordination1CTD_human
TgeneC0543888Epileptic encephalopathy1GENOMICS_ENGLAND
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0750937Ataxia, Appendicular1CTD_human
TgeneC0750940Tremor, Rubral1CTD_human
TgeneC0917816Mental deficiency1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human
TgeneC1176475Ductal Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC1332347Atypical Ductal Breast Hyperplasia1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1851936Paroxysmal choreoathetosis1GENOMICS_ENGLAND
TgeneC1869117Paroxysmal nonkinesigenic dyskinesia1GENOMICS_ENGLAND
TgeneC2239176Liver carcinoma1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human