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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:RASSF8-PTEN (FusionGDB2 ID:72075)

Fusion Gene Summary for RASSF8-PTEN

check button Fusion gene summary
Fusion gene informationFusion gene name: RASSF8-PTEN
Fusion gene ID: 72075
HgeneTgene
Gene symbol

RASSF8

PTEN

Gene ID

11228

5728

Gene nameRas association domain family member 8phosphatase and tensin homolog
SynonymsC12orf2|HOJ110q23del|BZS|CWS1|DEC|GLM2|MHAM|MMAC1|PTEN1|PTENbeta|TEP1
Cytomap

12p12.1

10q23.31

Type of geneprotein-codingprotein-coding
Descriptionras association domain-containing protein 8Ras association (RalGDS/AF-6) domain family (N-terminal) member 8carcinoma-associated protein HOJ-1phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENMMAC1 phosphatase and tensin homolog deleted on chromosome 10PTENepsilonmitochondrial PTENalphamitochondrial phosphatase and tensin protein alphamutat
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000381352, ENST00000405154, 
ENST00000542865, ENST00000541490, 
ENST00000282884, ENST00000538081, 
ENST00000371953, ENST00000472832, 
Fusion gene scores* DoF score14 X 5 X 10=70030 X 21 X 10=6300
# samples 1536
** MAII scorelog2(15/700*10)=-2.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(36/6300*10)=-4.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RASSF8 [Title/Abstract] AND PTEN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRASSF8(26148063)-PTEN(89711874), # 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
TgenePTEN

GO:0001933

negative regulation of protein phosphorylation

20123964

TgenePTEN

GO:0006470

protein dephosphorylation

9256433

TgenePTEN

GO:0008285

negative regulation of cell proliferation

19057511

TgenePTEN

GO:0045736

negative regulation of cyclin-dependent protein serine/threonine kinase activity

21241890

TgenePTEN

GO:0046855

inositol phosphate dephosphorylation

9593664

TgenePTEN

GO:0046856

phosphatidylinositol dephosphorylation

9593664|9811831

TgenePTEN

GO:0050821

protein stabilization

20123964

TgenePTEN

GO:0060070

canonical Wnt signaling pathway

20123964

TgenePTEN

GO:1902807

negative regulation of cell cycle G1/S phase transition

10918569

TgenePTEN

GO:1904668

positive regulation of ubiquitin protein ligase activity

21241890

TgenePTEN

GO:2000060

positive regulation of ubiquitin-dependent protein catabolic process

21241890

TgenePTEN

GO:2000134

negative regulation of G1/S transition of mitotic cell cycle

21241890


check buttonFusion gene breakpoints across RASSF8 (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 PTEN (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
ChimerDB4OVTCGA-29-1761RASSF8chr12

26148063

+PTENchr10

89711874

+


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Fusion Gene ORF analysis for RASSF8-PTEN

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-3CDSENST00000381352ENST00000371953RASSF8chr12

26148063

+PTENchr10

89711874

+
5UTR-intronENST00000381352ENST00000472832RASSF8chr12

26148063

+PTENchr10

89711874

+
intron-3CDSENST00000405154ENST00000371953RASSF8chr12

26148063

+PTENchr10

89711874

+
intron-intronENST00000405154ENST00000472832RASSF8chr12

26148063

+PTENchr10

89711874

+
5UTR-3CDSENST00000542865ENST00000371953RASSF8chr12

26148063

+PTENchr10

89711874

+
5UTR-intronENST00000542865ENST00000472832RASSF8chr12

26148063

+PTENchr10

89711874

+
5UTR-3CDSENST00000541490ENST00000371953RASSF8chr12

26148063

+PTENchr10

89711874

+
5UTR-intronENST00000541490ENST00000472832RASSF8chr12

26148063

+PTENchr10

89711874

+
intron-3CDSENST00000282884ENST00000371953RASSF8chr12

26148063

+PTENchr10

89711874

+
intron-intronENST00000282884ENST00000472832RASSF8chr12

26148063

+PTENchr10

89711874

+
3UTR-3CDSENST00000538081ENST00000371953RASSF8chr12

26148063

+PTENchr10

89711874

+
3UTR-intronENST00000538081ENST00000472832RASSF8chr12

26148063

+PTENchr10

89711874

+

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 RASSF8-PTEN


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)
RASSF8chr1226148063+PTENchr1089711874+7.71E-070.9999993
RASSF8chr1226148063+PTENchr1089711874+7.71E-070.9999993

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 RASSF8-PTEN


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 RASSF8-PTEN


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 RASSF8-PTEN


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 RASSF8-PTEN


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 RASSF8-PTEN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRASSF8C0149925Small cell carcinoma of lung1CTD_human
TgenePTENC0018553Hamartoma Syndrome, Multiple36CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgenePTENC1959582PTEN Hamartoma Tumor Syndrome23CLINGEN;CTD_human;GENOMICS_ENGLAND
TgenePTENC0376358Malignant neoplasm of prostate18CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePTENC0265326Bannayan-Riley-Ruvalcaba Syndrome16CTD_human;GENOMICS_ENGLAND
TgenePTENC0033578Prostatic Neoplasms15CTD_human
TgenePTENC0391826Lhermitte-Duclos disease15CTD_human;GENOMICS_ENGLAND;ORPHANET
TgenePTENC0085261Proteus Syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET
TgenePTENC0376634Craniofacial Abnormalities6CTD_human
TgenePTENC1854416MACROCEPHALY/AUTISM SYNDROME6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgenePTENC0020796Profound Mental Retardation5CTD_human
TgenePTENC0025202melanoma5CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePTENC0025363Mental Retardation, Psychosocial5CTD_human
TgenePTENC0476089Endometrial Carcinoma5CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePTENC0917816Mental deficiency5CTD_human
TgenePTENC3714756Intellectual Disability5CTD_human
TgenePTENC0004352Autistic Disorder4CTD_human
TgenePTENC0006142Malignant neoplasm of breast4CGI;CTD_human;UNIPROT
TgenePTENC0014170Endometrial Neoplasms4CTD_human
TgenePTENC0678222Breast Carcinoma4CGI;CTD_human
TgenePTENC1257931Mammary Neoplasms, Human4CTD_human
TgenePTENC1458155Mammary Neoplasms4CTD_human
TgenePTENC1866398Proteus-Like Syndrome (disorder)4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgenePTENC4704874Mammary Carcinoma, Human4CTD_human
TgenePTENC0008073Developmental Disabilities3CTD_human
TgenePTENC0085996Child Development Deviations3CTD_human
TgenePTENC0085997Child Development Disorders, Specific3CTD_human
TgenePTENC0345893Juvenile polyposis syndrome3ORPHANET
TgenePTENC1168401Squamous cell carcinoma of the head and neck3CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePTENC1848599VACTERL Association With Hydrocephalus3CTD_human;GENOMICS_ENGLAND
TgenePTENC0024121Lung Neoplasms2CGI;CTD_human
TgenePTENC0242379Malignant neoplasm of lung2CGI;CTD_human
TgenePTENC0282612Prostatic Intraepithelial Neoplasias2CTD_human
TgenePTENC2751642GLIOMA SUSCEPTIBILITY 22GENOMICS_ENGLAND;UNIPROT
TgenePTENC0000772Multiple congenital anomalies1CTD_human
TgenePTENC0001418Adenocarcinoma1CTD_human
TgenePTENC0003081Anisometropia1CTD_human
TgenePTENC0004096Asthma1CTD_human
TgenePTENC0004565Melanoma, B161CTD_human
TgenePTENC0007097Carcinoma1CTD_human
TgenePTENC0007134Renal Cell Carcinoma1CTD_human
TgenePTENC0007621Neoplastic Cell Transformation1CTD_human
TgenePTENC0009075Melanoma, Cloudman S911CTD_human
TgenePTENC0010606Adenoid Cystic Carcinoma1CTD_human
TgenePTENC0011757Developmental Coordination Disorder1CTD_human
TgenePTENC0014173Endometrial Hyperplasia1CTD_human
TgenePTENC0015695Fatty Liver1CTD_human
TgenePTENC0017638Glioma1CGI;CTD_human;UNIPROT
TgenePTENC0018598Melanoma, Harding-Passey1CTD_human
TgenePTENC0018916Hemangioma1CTD_human
TgenePTENC0020538Hypertensive disease1CTD_human
TgenePTENC0020564Hypertrophy1CTD_human
TgenePTENC0021655Insulin Resistance1CTD_human
TgenePTENC0023012Language Delay1CTD_human
TgenePTENC0023014Language Development Disorders1CTD_human
TgenePTENC0023418leukemia1CTD_human
TgenePTENC0023798Lipoma1CTD_human
TgenePTENC0023801Lipomatosis1CTD_human
TgenePTENC0023890Liver Cirrhosis1CTD_human
TgenePTENC0023976Long QT Syndrome1CTD_human
TgenePTENC0024299Lymphoma1CTD_human
TgenePTENC0025205Melanoma, Experimental1CTD_human
TgenePTENC0025286Meningioma1CTD_human
TgenePTENC0026613Motor Skills Disorders1CTD_human
TgenePTENC0027055Myocardial Reperfusion Injury1CTD_human
TgenePTENC0027626Neoplasm Invasiveness1CTD_human
TgenePTENC0027627Neoplasm Metastasis1CTD_human
TgenePTENC0030297Pancreatic Neoplasm1CTD_human
TgenePTENC0035126Reperfusion Injury1CTD_human
TgenePTENC0036920Sezary Syndrome1CTD_human
TgenePTENC0037116Silicosis1CTD_human
TgenePTENC0037274Dermatologic disorders1CTD_human
TgenePTENC0149925Small cell carcinoma of lung1CTD_human
TgenePTENC0152427Polydactyly1CTD_human
TgenePTENC0175704LEOPARD Syndrome1CTD_human
TgenePTENC0205641Adenocarcinoma, Basal Cell1CTD_human
TgenePTENC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgenePTENC0205643Carcinoma, Cribriform1CTD_human
TgenePTENC0205644Carcinoma, Granular Cell1CTD_human
TgenePTENC0205645Adenocarcinoma, Tubular1CTD_human
TgenePTENC0205696Anaplastic carcinoma1CTD_human
TgenePTENC0205697Carcinoma, Spindle-Cell1CTD_human
TgenePTENC0205698Undifferentiated carcinoma1CTD_human
TgenePTENC0205699Carcinomatosis1CTD_human
TgenePTENC0205788Histiocytoid hemangioma1CTD_human
TgenePTENC0205789Hemangioma, Intramuscular1CTD_human
TgenePTENC0205822Hibernoma1CTD_human
TgenePTENC0205823Pleomorphic Lipoma1CTD_human
TgenePTENC0205834Meningiomas, Multiple1CTD_human
TgenePTENC0206669Hepatocellular Adenoma1CTD_human
TgenePTENC0206698Cholangiocarcinoma1CTD_human
TgenePTENC0235874Disease Exacerbation1CTD_human
TgenePTENC0239946Fibrosis, Liver1CTD_human
TgenePTENC0241210Speech Delay1CTD_human
TgenePTENC0259783mixed gliomas1CTD_human
TgenePTENC0259785Malignant Meningioma1CTD_human
TgenePTENC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgenePTENC0280302Squamous cell carcinoma of lip1ORPHANET
TgenePTENC0280313Squamous cell carcinoma of oropharynx1ORPHANET
TgenePTENC0280321Squamous cell carcinoma of the hypopharynx1ORPHANET
TgenePTENC0280324Laryngeal Squamous Cell Carcinoma1ORPHANET
TgenePTENC0281784Benign Meningioma1CTD_human
TgenePTENC0334605Meningothelial meningioma1CTD_human
TgenePTENC0334606Fibrous Meningioma1CTD_human
TgenePTENC0334607Psammomatous Meningioma1CTD_human
TgenePTENC0334608Angiomatous Meningioma1CTD_human
TgenePTENC0334609Hemangioblastic Meningioma1CTD_human
TgenePTENC0334610Hemangiopericytic Meningioma1CTD_human
TgenePTENC0334611Transitional Meningioma1CTD_human
TgenePTENC0345905Intrahepatic Cholangiocarcinoma1CTD_human
TgenePTENC0346647Malignant neoplasm of pancreas1CTD_human
TgenePTENC0347515Spinal Meningioma1CTD_human
TgenePTENC0349578Complex Endometrial Hyperplasia1CTD_human
TgenePTENC0349579Atypical Endometrial Hyperplasia1CTD_human
TgenePTENC0349604Intracranial Meningioma1CTD_human
TgenePTENC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgenePTENC0431121Clear Cell Meningioma1CTD_human
TgenePTENC0454655Semantic-Pragmatic Disorder1CTD_human
TgenePTENC0456483Simple Endometrial Hyperplasia1CTD_human
TgenePTENC0457190Xanthomatous Meningioma1CTD_human
TgenePTENC0555198Malignant Glioma1CTD_human
TgenePTENC0585362Squamous cell carcinoma of mouth1CGI;ORPHANET
TgenePTENC0677608Chorioangioma1CTD_human
TgenePTENC0677776Hereditary Breast and Ovarian Cancer Syndrome1ORPHANET
TgenePTENC0751257Auditory Processing Disorder, Central1CTD_human
TgenePTENC0751303Cerebral Convexity Meningioma1CTD_human
TgenePTENC0751304Parasagittal Meningioma1CTD_human
TgenePTENC0919267ovarian neoplasm1CGI;CTD_human
TgenePTENC0920563Insulin Sensitivity1CTD_human
TgenePTENC1140680Malignant neoplasm of ovary1CGI;CTD_human
TgenePTENC1176475Ductal Carcinoma1CTD_human
TgenePTENC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgenePTENC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgenePTENC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgenePTENC1266181Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos)1ORPHANET
TgenePTENC1306837Papillary Renal Cell Carcinoma1CTD_human
TgenePTENC1334261Intraorbital Meningioma1CTD_human
TgenePTENC1334271Intraventricular Meningioma1CTD_human
TgenePTENC1335107Olfactory Groove Meningioma1CTD_human
TgenePTENC1384406Secretory meningioma1CTD_human
TgenePTENC1384408Microcystic meningioma1CTD_human
TgenePTENC1527197Angioblastic Meningioma1CTD_human
TgenePTENC1535926Neurodevelopmental Disorders1CTD_human
TgenePTENC1565950Posterior Fossa Meningioma1CTD_human
TgenePTENC1565951Sphenoid Wing Meningioma1CTD_human
TgenePTENC1835047MELANOMA, CUTANEOUS MALIGNANT, 11GENOMICS_ENGLAND
TgenePTENC1959588Angioma1CTD_human
TgenePTENC2239176Liver carcinoma1CTD_human
TgenePTENC2711227Steatohepatitis1CTD_human
TgenePTENC2931822Nasopharyngeal carcinoma1CTD_human
TgenePTENC3163622Papillary Meningioma1CTD_human
TgenePTENC3241937Nonalcoholic Steatohepatitis1CTD_human
TgenePTENC3489413Lipomatosis, Multiple1CTD_human
TgenePTENC3551915MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO1GENOMICS_ENGLAND
TgenePTENC3714976ACTIVATED PI3K-DELTA SYNDROME1ORPHANET
TgenePTENC3805278Extrahepatic Cholangiocarcinoma1CTD_human
TgenePTENC4225426THYROID CANCER, NONMEDULLARY, 21GENOMICS_ENGLAND
TgenePTENC4551484Leopard Syndrome 11CTD_human