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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:PERP-SLC2A1 (FusionGDB2 ID:63920)

Fusion Gene Summary for PERP-SLC2A1

check button Fusion gene summary
Fusion gene informationFusion gene name: PERP-SLC2A1
Fusion gene ID: 63920
HgeneTgene
Gene symbol

PERP

SLC2A1

Gene ID

64065

6513

Gene namep53 apoptosis effector related to PMP22solute carrier family 2 member 1
SynonymsKCP1|KRTCAP1|PIGPC1|THW|dJ496H19.1CSE|DYT17|DYT18|DYT9|EIG12|GLUT|GLUT-1|GLUT1|GLUT1DS|HTLVR|PED|SDCHCN
Cytomap

6q23.3

1p34.2

Type of geneprotein-codingprotein-coding
Descriptionp53 apoptosis effector related to PMP-221110017A08RikKCP-1PERP, TP53 apoptosis effectorkeratinocyte-associated protein 1keratinocytes associated protein 1p53-induced protein PIGPC1transmembrane protein THWsolute 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 geneENST00000421351, ENST00000426263, 
ENST00000475162, ENST00000415851, 
ENST00000372500, 
Fusion gene scores* DoF score13 X 10 X 6=7807 X 6 X 4=168
# samples 147
** MAII scorelog2(14/780*10)=-2.47804729680464
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: PERP [Title/Abstract] AND SLC2A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPERP(138413330)-SLC2A1(43394674), # 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
HgenePERP

GO:0045862

positive regulation of proteolysis

18387192

HgenePERP

GO:0097202

activation of cysteine-type endopeptidase activity

18387192

TgeneSLC2A1

GO:0065003

protein-containing complex assembly

18347014

TgeneSLC2A1

GO:1904659

glucose transmembrane transport

2211693|18245775|25982116|27078104


check buttonFusion gene breakpoints across PERP (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 SLC2A1 (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/AAW856224PERPchr6

138413330

-SLC2A1chr1

43394674

-


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Fusion Gene ORF analysis for PERP-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
intron-3CDSENST00000421351ENST00000426263PERPchr6

138413330

-SLC2A1chr1

43394674

-
intron-intronENST00000421351ENST00000475162PERPchr6

138413330

-SLC2A1chr1

43394674

-
intron-intronENST00000421351ENST00000415851PERPchr6

138413330

-SLC2A1chr1

43394674

-
intron-intronENST00000421351ENST00000372500PERPchr6

138413330

-SLC2A1chr1

43394674

-

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 PERP-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)

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 PERP-SLC2A1


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 PERP-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 PERP-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 PERP-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 PERP-SLC2A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePERPC2609071Olmsted syndrome1ORPHANET
TgeneSLC2A1C4551966GLUT1 DEFICIENCY SYNDROME 125CLINGEN;GENOMICS_ENGLAND;UNIPROT
TgeneSLC2A1C1842534DYSTONIA 18 (disorder)15CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneSLC2A1C1847501Glut1 Deficiency Syndrome12CLINGEN;CTD_human;ORPHANET
TgeneSLC2A1C3149117GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE8CLINGEN
TgeneSLC2A1C3553859EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 126GENOMICS_ENGLAND;UNIPROT
TgeneSLC2A1C0036572Seizures4CTD_human;GENOMICS_ENGLAND
TgeneSLC2A1C0008073Developmental Disabilities3CTD_human
TgeneSLC2A1C0013421Dystonia3GENOMICS_ENGLAND
TgeneSLC2A1C0022333Jacksonian Seizure3CTD_human
TgeneSLC2A1C0085996Child Development Deviations3CTD_human
TgeneSLC2A1C0085997Child Development Disorders, Specific3CTD_human
TgeneSLC2A1C0149958Complex partial seizures3CTD_human
TgeneSLC2A1C0234533Generalized seizures3CTD_human
TgeneSLC2A1C0234535Clonic Seizures3CTD_human
TgeneSLC2A1C0270824Visual seizure3CTD_human
TgeneSLC2A1C0270844Tonic Seizures3CTD_human
TgeneSLC2A1C0270846Epileptic drop attack3CTD_human
TgeneSLC2A1C0422850Seizures, Somatosensory3CTD_human
TgeneSLC2A1C0422852Seizures, Auditory3CTD_human
TgeneSLC2A1C0422853Olfactory seizure3CTD_human
TgeneSLC2A1C0422854Gustatory seizure3CTD_human
TgeneSLC2A1C0422855Vertiginous seizure3CTD_human
TgeneSLC2A1C0494475Tonic - clonic seizures3CTD_human
TgeneSLC2A1C0751056Non-epileptic convulsion3CTD_human
TgeneSLC2A1C0751110Single Seizure3CTD_human
TgeneSLC2A1C0751123Atonic Absence Seizures3CTD_human
TgeneSLC2A1C0751494Convulsive Seizures3CTD_human
TgeneSLC2A1C0751495Seizures, Focal3CTD_human
TgeneSLC2A1C0751496Seizures, Sensory3CTD_human
TgeneSLC2A1C1832855CHOREOATHETOSIS/SPASTICITY, EPISODIC3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneSLC2A1C1837206Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneSLC2A1C3495874Nonepileptic Seizures3CTD_human
TgeneSLC2A1C4048158Convulsions3CTD_human
TgeneSLC2A1C4316903Absence Seizures3CTD_human
TgeneSLC2A1C4317109Epileptic Seizures3CTD_human
TgeneSLC2A1C4317123Myoclonic Seizures3CTD_human
TgeneSLC2A1C4505436Generalized Absence Seizures3CTD_human
TgeneSLC2A1C0025958Microcephaly2CTD_human
TgeneSLC2A1C0270850Idiopathic generalized epilepsy2GENOMICS_ENGLAND
TgeneSLC2A1C0272048stomatocytic anemia2GENOMICS_ENGLAND
TgeneSLC2A1C0677598Stomatocytosis Result2GENOMICS_ENGLAND
TgeneSLC2A1C1838604EPILEPSY, CHILDHOOD ABSENCE, 12ORPHANET
TgeneSLC2A1C1956147Microlissencephaly2CTD_human
TgeneSLC2A1C3714756Intellectual Disability2CTD_human;GENOMICS_ENGLAND
TgeneSLC2A1C3853041Severe Congenital Microcephaly2CTD_human
TgeneSLC2A1C0004134Ataxia1CTD_human
TgeneSLC2A1C0004138Ataxias, Hereditary1GENOMICS_ENGLAND
TgeneSLC2A1C0006142Malignant neoplasm of breast1CTD_human
TgeneSLC2A1C0007102Malignant tumor of colon1CTD_human
TgeneSLC2A1C0007124Noninfiltrating Intraductal Carcinoma1CTD_human
TgeneSLC2A1C0007134Renal Cell Carcinoma1CTD_human
TgeneSLC2A1C0007621Neoplastic Cell Transformation1CTD_human
TgeneSLC2A1C0009375Colonic Neoplasms1CTD_human
TgeneSLC2A1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneSLC2A1C0020796Profound Mental Retardation1CTD_human
TgeneSLC2A1C0023903Liver neoplasms1CTD_human
TgeneSLC2A1C0025363Mental Retardation, Psychosocial1CTD_human
TgeneSLC2A1C0025521Inborn Errors of Metabolism1CTD_human
TgeneSLC2A1C0027125Myotonia1GENOMICS_ENGLAND
TgeneSLC2A1C0027765nervous system disorder1CTD_human
TgeneSLC2A1C0029408Degenerative polyarthritis1CTD_human
TgeneSLC2A1C0031149Peritoneal Neoplasms1CTD_human
TgeneSLC2A1C0037772Spastic Paraplegia1GENOMICS_ENGLAND
TgeneSLC2A1C0086543Cataract1GENOMICS_ENGLAND
TgeneSLC2A1C0086743Osteoarthrosis Deformans1CTD_human
TgeneSLC2A1C0240991Ataxia, Sensory1CTD_human
TgeneSLC2A1C0278161Ataxia, Motor1CTD_human
TgeneSLC2A1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneSLC2A1C0345904Malignant neoplasm of liver1CTD_human
TgeneSLC2A1C0345967Malignant mesothelioma1CTD_human
TgeneSLC2A1C0346990Carcinomatosis of peritoneal cavity1CTD_human
TgeneSLC2A1C0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneSLC2A1C0427190Ataxia, Truncal1CTD_human
TgeneSLC2A1C0520966Abnormal coordination1CTD_human
TgeneSLC2A1C0543888Epileptic encephalopathy1GENOMICS_ENGLAND
TgeneSLC2A1C0557874Global developmental delay1GENOMICS_ENGLAND
TgeneSLC2A1C0678222Breast Carcinoma1CTD_human
TgeneSLC2A1C0750937Ataxia, Appendicular1CTD_human
TgeneSLC2A1C0750940Tremor, Rubral1CTD_human
TgeneSLC2A1C0917816Mental deficiency1CTD_human
TgeneSLC2A1C0919267ovarian neoplasm1CTD_human
TgeneSLC2A1C1140680Malignant neoplasm of ovary1CTD_human
TgeneSLC2A1C1176475Ductal Carcinoma1CTD_human
TgeneSLC2A1C1257931Mammary Neoplasms, Human1CTD_human
TgeneSLC2A1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneSLC2A1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneSLC2A1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneSLC2A1C1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneSLC2A1C1332347Atypical Ductal Breast Hyperplasia1CTD_human
TgeneSLC2A1C1458155Mammary Neoplasms1CTD_human
TgeneSLC2A1C1851936Paroxysmal choreoathetosis1GENOMICS_ENGLAND
TgeneSLC2A1C1869117Paroxysmal nonkinesigenic dyskinesia1GENOMICS_ENGLAND
TgeneSLC2A1C2239176Liver carcinoma1CTD_human
TgeneSLC2A1C4704874Mammary Carcinoma, Human1CTD_human