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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:PTEN-EMX2 (FusionGDB2 ID:69476)

Fusion Gene Summary for PTEN-EMX2

check button Fusion gene summary
Fusion gene informationFusion gene name: PTEN-EMX2
Fusion gene ID: 69476
HgeneTgene
Gene symbol

PTEN

EMX2

Gene ID

5728

2018

Gene namephosphatase and tensin homologempty spiracles homeobox 2
Synonyms10q23del|BZS|CWS1|DEC|GLM2|MHAM|MMAC1|PTEN1|PTENbeta|TEP1-
Cytomap

10q23.31

10q26.11

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol 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 alphamutathomeobox protein EMX2empty spiracles homolog 2empty spiracles-like protein 2
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000371953, ENST00000472832, 
ENST00000553456, ENST00000442245, 
ENST00000546446, 
Fusion gene scores* DoF score32 X 22 X 15=105602 X 4 X 2=16
# samples 422
** MAII scorelog2(42/10560*10)=-4.65207669657969
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/16*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PTEN [Title/Abstract] AND EMX2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPTEN(89653866)-EMX2(119305142), # samples:1
PTEN(89653866)-EMX2(119305143), # samples:1
PTEN(89653866)-EMX2(119307576), # samples:1
Anticipated loss of major functional domain due to fusion event.PTEN-EMX2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
PTEN-EMX2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
PTEN-EMX2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
PTEN-EMX2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PTEN-EMX2 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
* 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
HgenePTEN

GO:0001933

negative regulation of protein phosphorylation

20123964

HgenePTEN

GO:0006470

protein dephosphorylation

9256433

HgenePTEN

GO:0008285

negative regulation of cell proliferation

19057511

HgenePTEN

GO:0045736

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

21241890

HgenePTEN

GO:0046855

inositol phosphate dephosphorylation

9593664

HgenePTEN

GO:0046856

phosphatidylinositol dephosphorylation

9593664|9811831

HgenePTEN

GO:0050821

protein stabilization

20123964

HgenePTEN

GO:0060070

canonical Wnt signaling pathway

20123964

HgenePTEN

GO:1902807

negative regulation of cell cycle G1/S phase transition

10918569

HgenePTEN

GO:1904668

positive regulation of ubiquitin protein ligase activity

21241890

HgenePTEN

GO:2000060

positive regulation of ubiquitin-dependent protein catabolic process

21241890

HgenePTEN

GO:2000134

negative regulation of G1/S transition of mitotic cell cycle

21241890


check buttonFusion gene breakpoints across PTEN (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 EMX2 (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
ChimerDB4LUSCTCGA-94-7557PTENchr10

89653866

+EMX2chr10

119305142

+
ChimerDB4LUSCTCGA-94-7557PTENchr10

89653866

+EMX2chr10

119305143

+
ChimerDB4LUSCTCGA-94-7557PTENchr10

89653866

+EMX2chr10

119307576

+


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Fusion Gene ORF analysis for PTEN-EMX2

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
Frame-shiftENST00000371953ENST00000553456PTENchr10

89653866

+EMX2chr10

119305142

+
5CDS-intronENST00000371953ENST00000442245PTENchr10

89653866

+EMX2chr10

119305142

+
5CDS-3UTRENST00000371953ENST00000546446PTENchr10

89653866

+EMX2chr10

119305142

+
intron-3CDSENST00000472832ENST00000553456PTENchr10

89653866

+EMX2chr10

119305142

+
intron-intronENST00000472832ENST00000442245PTENchr10

89653866

+EMX2chr10

119305142

+
intron-3UTRENST00000472832ENST00000546446PTENchr10

89653866

+EMX2chr10

119305142

+
Frame-shiftENST00000371953ENST00000553456PTENchr10

89653866

+EMX2chr10

119305143

+
5CDS-intronENST00000371953ENST00000442245PTENchr10

89653866

+EMX2chr10

119305143

+
5CDS-3UTRENST00000371953ENST00000546446PTENchr10

89653866

+EMX2chr10

119305143

+
intron-3CDSENST00000472832ENST00000553456PTENchr10

89653866

+EMX2chr10

119305143

+
intron-intronENST00000472832ENST00000442245PTENchr10

89653866

+EMX2chr10

119305143

+
intron-3UTRENST00000472832ENST00000546446PTENchr10

89653866

+EMX2chr10

119305143

+
Frame-shiftENST00000371953ENST00000553456PTENchr10

89653866

+EMX2chr10

119307576

+
In-frameENST00000371953ENST00000442245PTENchr10

89653866

+EMX2chr10

119307576

+
5CDS-3UTRENST00000371953ENST00000546446PTENchr10

89653866

+EMX2chr10

119307576

+
intron-3CDSENST00000472832ENST00000553456PTENchr10

89653866

+EMX2chr10

119307576

+
intron-3CDSENST00000472832ENST00000442245PTENchr10

89653866

+EMX2chr10

119307576

+
intron-3UTRENST00000472832ENST00000546446PTENchr10

89653866

+EMX2chr10

119307576

+

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)
ENST00000371953PTENchr1089653866+ENST00000442245EMX2chr10119307576+235815215561524322

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
ENST00000371953ENST00000442245PTENchr1089653866+EMX2chr10119307576+0.63635750.36364257

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Fusion Genomic Features for PTEN-EMX2


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)
PTENchr1089653866+EMX2chr10119307575+0.0006995420.9993005
PTENchr1089653866+EMX2chr10119305142+2.93E-050.9999707
PTENchr1089653866+EMX2chr10119307575+0.0006995420.9993005
PTENchr1089653866+EMX2chr10119305142+2.93E-050.9999707

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 PTEN-EMX2


check button Go to

FGviewer for the breakpoints of chr10:89653866-chr10:119307576

.
- 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
TgeneEMX2chr10:89653866chr10:119307576ENST0000044224502154_213135.33333333333334170.0DNA bindingHomeobox

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePTENchr10:89653866chr10:119307576ENST00000371953+2914_18554.666666666666664404.0DomainPhosphatase tensin-type
HgenePTENchr10:89653866chr10:119307576ENST00000371953+29190_35054.666666666666664404.0DomainC2 tensin-type
HgenePTENchr10:89653866chr10:119307576ENST00000371953+29401_40354.666666666666664404.0RegionNote=PDZ domain-binding
TgeneEMX2chr10:89653866chr10:119307576ENST000004422450254_59135.33333333333334170.0Compositional biasNote=Poly-Ala
TgeneEMX2chr10:89653866chr10:119307576ENST000005534561354_59197.0253.0Compositional biasNote=Poly-Ala
TgeneEMX2chr10:89653866chr10:119307576ENST0000055345613154_213197.0253.0DNA bindingHomeobox


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Fusion Gene Sequence for PTEN-EMX2


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.
>In-frame_ENST00000371953_ENST00000442245_TCGA-94-7557_PTEN_chr10_89653866_+_EMX2_chr10_119307576_length(transcript)=2358nt_BP=1521nt
GGTAACCTCAGACTCGAGTCAGTGACACTGCTCAACGCACCCATCTCAGCTTTCATCATCAGTCCTCCACCCCCGCCCCACAACAGCCTA
CCCTGCCTCCGGCTGGGTTTCTGGGCAGAGGCCGAGGCTTAGCTCGTTATCCTCGCCTCGCGTTGCTGCAAAAGCCGCAGCAAGTGCAGC
TGCAGGCTGGCGGCTGGGAACCGGCCCGAGCAAGCCCCAGGCAGCTACACTGGGCATGCTCAGTAGAGCCTGCGGCTTGGGGACTCTGCG
CTCGCACCCAGAGCTACCGCTCTGCCCCCTCCTACCGCCCCCTGCCCTGCCCTGCCCTCCCCTCGCCCGGCGCGGTCCCGTCCGCCTCTC
GCTCGCCTCCCGCCTCCCCTCGGTCTTCCGAGGCGCCCGGGCTCCCGGCGCGGCGGCGGAGGGGGCGGGCAGGCCGGCGGGCGGTGATGT
GGCGGGACTCTTTATGCGCTGCGGCAGGATACGCGCTCGGCGCTGGGACGCGACTGCGCTCAGTTCTCTCCTCTCGGAAGCTGCAGCCAT
GATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCC
TCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTC
TTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCG
CGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGG
TCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGG
CTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGG
AGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTC
GCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGC
CAAGTCCAGAGCCATTTCCATCCTGCAGAAGAAGCCCCGCCACCAGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCT
CCCAGACATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCTATAT
TTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAGGTAAAAGTA
TGGTTTCAGAACCGAAGAACAAAGTTCAAAAGGCAGAAGCTGGAGGAAGAAGGCTCAGATTCGCAACAAAAGAAAAAAGGGACGCACCAT
ATTAACCGGTGGAGAATCGCCACCAAGCAGGCGAGTCCGGAGGAAATAGACGTGACCTCAGATGATTAAAAACATAAACCTAACCCCACA
GAAACGGACAACATGGAGCAAAAGAGACAGGGAGAGGTGGAGAAGGAAAAAACCCTACAAAACAAAAACAAACCGCATACACGTTCACCG
AGAAAGGGAGAGGGAATCGGAGGGAGCAGCGGAATGCGGCGAAGACTCTGGACAGCGAGGGCACAGGGTCCCAAACCGAGGCCGCGCCAA
GATGGCAGAGGATGGAGGCTCCTTCATCAACAAGCGACCCTCGTCTAAAGAGGCAGCTGAGTGAGAGACACAGAGAGAAGGAGAAAGAGG
GAGGGAGAGAGAGAAAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAAAGCTGAACGTGCACTCTGACAAGGGGAGCTGTCAATCAA
ACACCAAACCGGGGAGACAAGATGATTGGCAGGTATTCCGTTTATCACAGTCCACTTAAAAAATGATGATGATGATAAAAACCACGACCC
AACCAGGCACAGGACTTTTTTGTTTTTTGCACTTCGCTGTGTTTCCCCCCCATCTTTAAAAATAATTAGTAATAAAAAACAAAAATTCCA
TATCTAGCCCCATCCCACACCTGTTTCAAATCCTTGAAATGCATGTAGCAGTTGTTGGGCGAATGGTGTTTAAAGACCGAAAATGAATTG

>In-frame_ENST00000371953_ENST00000442245_TCGA-94-7557_PTEN_chr10_89653866_+_EMX2_chr10_119307576_length(amino acids)=322AA_start in transcript=556_stop in transcript=1524
MSRCEARPGSGEGDERRRRPRPGAPLSACEQPRGQRPRGAGRPAAAAAAAFLASSSSFLTVQPLPRLLLKGKVEAVGSGGSRLRRGGGGG
TSRSWSGGEKRRRRRPRRLQLQGGGLSRLSPFPGLGTPESWSLPFYCLQHGGGGGWHIQGPGPVLNLPCAAAAPPVARAPEAAGGGSRSE
DYSSSPHSAAAAARPLAAEEKQAQSLQPSSSRRSSHYPAAVQSQAAAERGASATAKSRAISILQKKPRHQQLLPSLSSFFFSHRLPDMTA

--------------------------------------------------------------

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Fusion Gene PPI Analysis for PTEN-EMX2


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 PTEN-EMX2


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 PTEN-EMX2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTENC0018553Hamartoma Syndrome, Multiple36CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgenePTENC1959582PTEN Hamartoma Tumor Syndrome23CLINGEN;CTD_human;GENOMICS_ENGLAND
HgenePTENC0376358Malignant neoplasm of prostate18CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePTENC0265326Bannayan-Riley-Ruvalcaba Syndrome16CTD_human;GENOMICS_ENGLAND
HgenePTENC0033578Prostatic Neoplasms15CTD_human
HgenePTENC0391826Lhermitte-Duclos disease15CTD_human;GENOMICS_ENGLAND;ORPHANET
HgenePTENC0085261Proteus Syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET
HgenePTENC0376634Craniofacial Abnormalities6CTD_human
HgenePTENC1854416MACROCEPHALY/AUTISM SYNDROME6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgenePTENC0020796Profound Mental Retardation5CTD_human
HgenePTENC0025202melanoma5CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePTENC0025363Mental Retardation, Psychosocial5CTD_human
HgenePTENC0476089Endometrial Carcinoma5CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePTENC0917816Mental deficiency5CTD_human
HgenePTENC3714756Intellectual Disability5CTD_human
HgenePTENC0004352Autistic Disorder4CTD_human
HgenePTENC0006142Malignant neoplasm of breast4CGI;CTD_human;UNIPROT
HgenePTENC0014170Endometrial Neoplasms4CTD_human
HgenePTENC0678222Breast Carcinoma4CGI;CTD_human
HgenePTENC1257931Mammary Neoplasms, Human4CTD_human
HgenePTENC1458155Mammary Neoplasms4CTD_human
HgenePTENC1866398Proteus-Like Syndrome (disorder)4CTD_human;GENOMICS_ENGLAND;ORPHANET
HgenePTENC4704874Mammary Carcinoma, Human4CTD_human
HgenePTENC0008073Developmental Disabilities3CTD_human
HgenePTENC0085996Child Development Deviations3CTD_human
HgenePTENC0085997Child Development Disorders, Specific3CTD_human
HgenePTENC0345893Juvenile polyposis syndrome3ORPHANET
HgenePTENC1168401Squamous cell carcinoma of the head and neck3CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePTENC1848599VACTERL Association With Hydrocephalus3CTD_human;GENOMICS_ENGLAND
HgenePTENC0024121Lung Neoplasms2CGI;CTD_human
HgenePTENC0242379Malignant neoplasm of lung2CGI;CTD_human
HgenePTENC0282612Prostatic Intraepithelial Neoplasias2CTD_human
HgenePTENC2751642GLIOMA SUSCEPTIBILITY 22GENOMICS_ENGLAND;UNIPROT
HgenePTENC0000772Multiple congenital anomalies1CTD_human
HgenePTENC0001418Adenocarcinoma1CTD_human
HgenePTENC0003081Anisometropia1CTD_human
HgenePTENC0004096Asthma1CTD_human
HgenePTENC0004565Melanoma, B161CTD_human
HgenePTENC0007097Carcinoma1CTD_human
HgenePTENC0007134Renal Cell Carcinoma1CTD_human
HgenePTENC0007621Neoplastic Cell Transformation1CTD_human
HgenePTENC0009075Melanoma, Cloudman S911CTD_human
HgenePTENC0010606Adenoid Cystic Carcinoma1CTD_human
HgenePTENC0011757Developmental Coordination Disorder1CTD_human
HgenePTENC0014173Endometrial Hyperplasia1CTD_human
HgenePTENC0015695Fatty Liver1CTD_human
HgenePTENC0017638Glioma1CGI;CTD_human;UNIPROT
HgenePTENC0018598Melanoma, Harding-Passey1CTD_human
HgenePTENC0018916Hemangioma1CTD_human
HgenePTENC0020538Hypertensive disease1CTD_human
HgenePTENC0020564Hypertrophy1CTD_human
HgenePTENC0021655Insulin Resistance1CTD_human
HgenePTENC0023012Language Delay1CTD_human
HgenePTENC0023014Language Development Disorders1CTD_human
HgenePTENC0023418leukemia1CTD_human
HgenePTENC0023798Lipoma1CTD_human
HgenePTENC0023801Lipomatosis1CTD_human
HgenePTENC0023890Liver Cirrhosis1CTD_human
HgenePTENC0023976Long QT Syndrome1CTD_human
HgenePTENC0024299Lymphoma1CTD_human
HgenePTENC0025205Melanoma, Experimental1CTD_human
HgenePTENC0025286Meningioma1CTD_human
HgenePTENC0026613Motor Skills Disorders1CTD_human
HgenePTENC0027055Myocardial Reperfusion Injury1CTD_human
HgenePTENC0027626Neoplasm Invasiveness1CTD_human
HgenePTENC0027627Neoplasm Metastasis1CTD_human
HgenePTENC0030297Pancreatic Neoplasm1CTD_human
HgenePTENC0035126Reperfusion Injury1CTD_human
HgenePTENC0036920Sezary Syndrome1CTD_human
HgenePTENC0037116Silicosis1CTD_human
HgenePTENC0037274Dermatologic disorders1CTD_human
HgenePTENC0149925Small cell carcinoma of lung1CTD_human
HgenePTENC0152427Polydactyly1CTD_human
HgenePTENC0175704LEOPARD Syndrome1CTD_human
HgenePTENC0205641Adenocarcinoma, Basal Cell1CTD_human
HgenePTENC0205642Adenocarcinoma, Oxyphilic1CTD_human
HgenePTENC0205643Carcinoma, Cribriform1CTD_human
HgenePTENC0205644Carcinoma, Granular Cell1CTD_human
HgenePTENC0205645Adenocarcinoma, Tubular1CTD_human
HgenePTENC0205696Anaplastic carcinoma1CTD_human
HgenePTENC0205697Carcinoma, Spindle-Cell1CTD_human
HgenePTENC0205698Undifferentiated carcinoma1CTD_human
HgenePTENC0205699Carcinomatosis1CTD_human
HgenePTENC0205788Histiocytoid hemangioma1CTD_human
HgenePTENC0205789Hemangioma, Intramuscular1CTD_human
HgenePTENC0205822Hibernoma1CTD_human
HgenePTENC0205823Pleomorphic Lipoma1CTD_human
HgenePTENC0205834Meningiomas, Multiple1CTD_human
HgenePTENC0206669Hepatocellular Adenoma1CTD_human
HgenePTENC0206698Cholangiocarcinoma1CTD_human
HgenePTENC0235874Disease Exacerbation1CTD_human
HgenePTENC0239946Fibrosis, Liver1CTD_human
HgenePTENC0241210Speech Delay1CTD_human
HgenePTENC0259783mixed gliomas1CTD_human
HgenePTENC0259785Malignant Meningioma1CTD_human
HgenePTENC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgenePTENC0280302Squamous cell carcinoma of lip1ORPHANET
HgenePTENC0280313Squamous cell carcinoma of oropharynx1ORPHANET
HgenePTENC0280321Squamous cell carcinoma of the hypopharynx1ORPHANET
HgenePTENC0280324Laryngeal Squamous Cell Carcinoma1ORPHANET
HgenePTENC0281784Benign Meningioma1CTD_human
HgenePTENC0334605Meningothelial meningioma1CTD_human
HgenePTENC0334606Fibrous Meningioma1CTD_human
HgenePTENC0334607Psammomatous Meningioma1CTD_human
HgenePTENC0334608Angiomatous Meningioma1CTD_human
HgenePTENC0334609Hemangioblastic Meningioma1CTD_human
HgenePTENC0334610Hemangiopericytic Meningioma1CTD_human
HgenePTENC0334611Transitional Meningioma1CTD_human
HgenePTENC0345905Intrahepatic Cholangiocarcinoma1CTD_human
HgenePTENC0346647Malignant neoplasm of pancreas1CTD_human
HgenePTENC0347515Spinal Meningioma1CTD_human
HgenePTENC0349578Complex Endometrial Hyperplasia1CTD_human
HgenePTENC0349579Atypical Endometrial Hyperplasia1CTD_human
HgenePTENC0349604Intracranial Meningioma1CTD_human
HgenePTENC0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgenePTENC0431121Clear Cell Meningioma1CTD_human
HgenePTENC0454655Semantic-Pragmatic Disorder1CTD_human
HgenePTENC0456483Simple Endometrial Hyperplasia1CTD_human
HgenePTENC0457190Xanthomatous Meningioma1CTD_human
HgenePTENC0555198Malignant Glioma1CTD_human
HgenePTENC0585362Squamous cell carcinoma of mouth1CGI;ORPHANET
HgenePTENC0677608Chorioangioma1CTD_human
HgenePTENC0677776Hereditary Breast and Ovarian Cancer Syndrome1ORPHANET
HgenePTENC0751257Auditory Processing Disorder, Central1CTD_human
HgenePTENC0751303Cerebral Convexity Meningioma1CTD_human
HgenePTENC0751304Parasagittal Meningioma1CTD_human
HgenePTENC0919267ovarian neoplasm1CGI;CTD_human
HgenePTENC0920563Insulin Sensitivity1CTD_human
HgenePTENC1140680Malignant neoplasm of ovary1CGI;CTD_human
HgenePTENC1176475Ductal Carcinoma1CTD_human
HgenePTENC1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgenePTENC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgenePTENC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgenePTENC1266181Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos)1ORPHANET
HgenePTENC1306837Papillary Renal Cell Carcinoma1CTD_human
HgenePTENC1334261Intraorbital Meningioma1CTD_human
HgenePTENC1334271Intraventricular Meningioma1CTD_human
HgenePTENC1335107Olfactory Groove Meningioma1CTD_human
HgenePTENC1384406Secretory meningioma1CTD_human
HgenePTENC1384408Microcystic meningioma1CTD_human
HgenePTENC1527197Angioblastic Meningioma1CTD_human
HgenePTENC1535926Neurodevelopmental Disorders1CTD_human
HgenePTENC1565950Posterior Fossa Meningioma1CTD_human
HgenePTENC1565951Sphenoid Wing Meningioma1CTD_human
HgenePTENC1835047MELANOMA, CUTANEOUS MALIGNANT, 11GENOMICS_ENGLAND
HgenePTENC1959588Angioma1CTD_human
HgenePTENC2239176Liver carcinoma1CTD_human
HgenePTENC2711227Steatohepatitis1CTD_human
HgenePTENC2931822Nasopharyngeal carcinoma1CTD_human
HgenePTENC3163622Papillary Meningioma1CTD_human
HgenePTENC3241937Nonalcoholic Steatohepatitis1CTD_human
HgenePTENC3489413Lipomatosis, Multiple1CTD_human
HgenePTENC3551915MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO1GENOMICS_ENGLAND
HgenePTENC3714976ACTIVATED PI3K-DELTA SYNDROME1ORPHANET
HgenePTENC3805278Extrahepatic Cholangiocarcinoma1CTD_human
HgenePTENC4225426THYROID CANCER, NONMEDULLARY, 21GENOMICS_ENGLAND
HgenePTENC4551484Leopard Syndrome 11CTD_human
TgeneEMX2C0266484Schizencephaly2GENOMICS_ENGLAND
TgeneEMX2C0024121Lung Neoplasms1CTD_human
TgeneEMX2C0036341Schizophrenia1PSYGENET
TgeneEMX2C0242379Malignant neoplasm of lung1CTD_human
TgeneEMX2C1720887Female Urogenital Diseases1CTD_human