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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 29291

FusionGeneSummary for PTEN_BTRC

check button Fusion gene summary
Fusion gene informationFusion gene name: PTEN_BTRC
Fusion gene ID: 29291
HgeneTgene
Gene symbol

PTEN

BTRC

Gene ID

5728

8945

Gene namephosphatase and tensin homologbeta-transducin repeat containing E3 ubiquitin protein ligase
Synonyms10q23del|BZS|CWS1|DEC|GLM2|MHAM|MMAC1|PTEN1|PTENbeta|TEP1BETA-TRCP|FBW1A|FBXW1|FBXW1A|FWD1|bTrCP|bTrCP1|betaTrCP
Cytomap

10q23.31

10q24.32

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 10mitochondrial PTENalphamitochondrial phosphatase and tensin protein alphamutated in multipF-box/WD repeat-containing protein 1AE3RSIkappaBF-box and WD repeats protein beta-TrCPF-box and WD-repeat protein 1Bbeta-TrCP1epididymis tissue protein Li 2apIkappaBalpha-E3 receptor subunit
Modification date2018052720180523
UniProtAcc

P60484

Q9Y297

Ensembl transtripts involved in fusion geneENST00000371953, ENST00000472832, 
ENST00000370187, ENST00000393441, 
ENST00000408038, ENST00000493877, 
Fusion gene scores* DoF score16 X 8 X 9=11521 X 1 X 1=1
# samples 151
** MAII scorelog2(15/1152*10)=-2.94110631094643
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

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

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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:0031658

negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle

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: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

TgeneBTRC

GO:0000209

protein polyubiquitination

12820959

TgeneBTRC

GO:0006511

ubiquitin-dependent protein catabolic process

15448698

TgeneBTRC

GO:0016567

protein ubiquitination

16885022

TgeneBTRC

GO:0042752

regulation of circadian rhythm

15917222

TgeneBTRC

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

15917222


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVCESCTCGA-IR-A3LL-01APTENchr10

89693008

+BTRCchr10

103290994

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-shitENST00000371953ENST00000370187PTENchr10

89693008

+BTRCchr10

103290994

+
Frame-shitENST00000371953ENST00000393441PTENchr10

89693008

+BTRCchr10

103290994

+
Frame-shitENST00000371953ENST00000408038PTENchr10

89693008

+BTRCchr10

103290994

+
5CDS-intronENST00000371953ENST00000493877PTENchr10

89693008

+BTRCchr10

103290994

+
intron-3CDSENST00000472832ENST00000370187PTENchr10

89693008

+BTRCchr10

103290994

+
intron-3CDSENST00000472832ENST00000393441PTENchr10

89693008

+BTRCchr10

103290994

+
intron-3CDSENST00000472832ENST00000408038PTENchr10

89693008

+BTRCchr10

103290994

+
intron-intronENST00000472832ENST00000493877PTENchr10

89693008

+BTRCchr10

103290994

+

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FusionProtFeatures for PTEN_BTRC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTEN

P60484

BTRC

Q9Y297

Tumor suppressor. Acts as a dual-specificity proteinphosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase,removing the phosphate in the D3 position of the inositol ringfrom phosphatidylinositol 3,4,5-trisphosphate,phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate with order ofsubstrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 >PtdIns3P > Ins(1,3,4,5)P4 (PubMed:26504226). The lipid phosphataseactivity is critical for its tumor suppressor function.Antagonizes the PI3K-AKT/PKB signaling pathway bydephosphorylating phosphoinositides and thereby modulating cellcycle progression and cell survival. The unphosphorylated formcooperates with AIP1 to suppress AKT1 activation. Dephosphorylatestyrosine-phosphorylated focal adhesion kinase and inhibits cellmigration and integrin-mediated cell spreading and focal adhesionformation. Plays a role as a key modulator of the AKT-mTORsignaling pathway controlling the tempo of the process of newbornneurons integration during adult neurogenesis, including correctneuron positioning, dendritic development and synapse formation.May be a negative regulator of insulin signaling and glucosemetabolism in adipose tissue. The nuclear monoubiquitinated formpossesses greater apoptotic potential, whereas the cytoplasmicnonubiquitinated form induces less tumor suppressive ability. Inmotile cells, suppresses the formation of lateral pseudopods andthereby promotes cell polarization and directed movement.{ECO:0000269|PubMed:26504226}. Isoform alpha: Functional kinase, like isoform 1 itantagonizes the PI3K-AKT/PKB signaling pathway. Plays a role inmitochondrial energetic metabolism by promoting COX activity andATP production, via collaboration with isoform 1 in increasingprotein levels of PINK1. Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediatesthe ubiquitination and subsequent proteasomal degradation oftarget proteins. Recognizes and binds to phosphorylated targetproteins (PubMed:10066435, PubMed:10497169, PubMed:10644755,PubMed:10835356, PubMed:11238952, PubMed:11359933,PubMed:11994270, PubMed:12791267, PubMed:12902344,PubMed:14603323, PubMed:14681206, PubMed:14988407,PubMed:15448698, PubMed:15917222, PubMed:16371461,PubMed:25503564, PubMed:25704143, PubMed:9859996). SCF(BTRC)mediates the ubiquitination of CTNNB1 and participates in Wntsignaling (PubMed:12077367, PubMed:12820959). SCF(BTRC) mediatesthe ubiquitination of phosphorylated NFKB1, ATF4, CDC25A, DLG1,FBXO5, PER1, SMAD3, SMAD4, SNAI1 and probably NFKB2(PubMed:10835356, PubMed:11238952, PubMed:14681206,PubMed:14603323). SCF(BTRC) mediates the ubiquitination of NFKBIA,NFKBIB and NFKBIE; the degradation frees the associated NFKB1 totranslocate into the nucleus and to activate transcription(PubMed:10066435, PubMed:10497169, PubMed:10644755).Ubiquitination of NFKBIA occurs at 'Lys-21' and 'Lys-22'(PubMed:10066435). SCF(BTRC) mediates the ubiquitination of CEP68;this is required for centriole separation during mitosis(PubMed:25704143, PubMed:25503564). SCF(BTRC) mediates theubiquitination and subsequent degradation of nuclear NFE2L1 (Bysimilarity). Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 andPER2 (PubMed:15917222). May be involved in ubiquitination andsubsequent proteasomal degradation through a DBB1-CUL4 E3ubiquitin-protein ligase. Required for activation of NFKB-mediatedtranscription by IL1B, MAP3K14, MAP3K1, IKBKB and TNF. Requiredfor proteolytic processing of GLI3 (PubMed:16371461).{ECO:0000250|UniProtKB:Q3ULA2, ECO:0000269|PubMed:10066435,ECO:0000269|PubMed:10497169, ECO:0000269|PubMed:10644755,ECO:0000269|PubMed:10835356, ECO:0000269|PubMed:11238952,ECO:0000269|PubMed:11359933, ECO:0000269|PubMed:11994270,ECO:0000269|PubMed:12077367, ECO:0000269|PubMed:12791267,ECO:0000269|PubMed:12820959, ECO:0000269|PubMed:12902344,ECO:0000269|PubMed:14603323, ECO:0000269|PubMed:14681206,ECO:0000269|PubMed:14988407, ECO:0000269|PubMed:15448698,ECO:0000269|PubMed:15917222, ECO:0000269|PubMed:16371461,ECO:0000269|PubMed:25503564, ECO:0000269|PubMed:25704143,ECO:0000269|PubMed:9859996}.

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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FusionGeneSequence for PTEN_BTRC


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PTEN_BTRC


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
PTENAR, ESR1, UBE2L3, UBE2I, TP53, CSNK2A1, CSNK2A2, UTP14A, ANG, CHGB, COPS6, HBA1, PTK2, MVP, MAGI3, CAV1, PXN, NEDD4, NDFIP1, NDFIP2, XIAP, CASP8, CCNE2, IRS4, PPP2R4, WNT4, QRFPR, ARHGAP26, G3BP2, CENPC, DBF4B, GPR113, INHBE, GFRA2, SMTN, KRT14, AMHR2, PTK2B, CRKL, MAP2K6, PKN2, PDGFRA, PINK1, P3H4, PTPN14, TCEB3C, BAP1, WWP2, MED12, ZNF787, FBN2, TTBK2, RPL14, EEF1A2, FRK, AKT1, PPP3CA, EGR1, SLC9A3R1, STUB1, ELAVL1, PPP1CA, SHARPIN, BMI1, KAT2B, PARK7, CDC27, ANAPC4, ANAPC5, ANAPC7, FZR1, NCOA3, FBXW7, LATS1, CBL, EPHB1, USP7, USP8, USP10, USP13, USP39, USP4, UBC, CDH1, CTNNB1, WWP1, TNKS, TNKS2, RNF146, TXNDC11, CFB, YME1L1, SUV39H1, HES5, GPER1, MXD1, TTC31, EME2, OPRL1, OSBP2, RFTN1, PBX3, FBXL6, PIGN, POLM, TUBA1A, UBAP2L, TRIM8, CDC42EP5, ST8SIA6, ENO2, BLOC1S1, HES6, IFIH1, CYB5R3, PSMB2, SLC36A1, THBD, CARS2, NOTCH1, PPAP2B, UBE2D1, HEATR6, LLGL2, SLC25A6, KIAA0196, PKMYT1, HAGHL, RASSF2, SOCS1, TRIM24, ACACA, PC, PCCA, PCCB, MCCC2, MCCC1, HSPA8, DBT, HSP90AA1, HSPA1A, TUBA3C, HSPA1L, TUBB2A, AMOT, ETS1, HSPA6, STIP1, TUBB4B, ACACB, HSP90AB1, HSPA2, BCKDHA, TUBA1C, HNRNPU, PPP1R10, TUBB3, BEX1, CXCL1, IL24, OSGIN1, POLDIP2, PELO, RPS2, RPL10A, RPLP0, SSR4, ANXA2, FASN, AKAP12, DBN1, PRDX1, DSP, NME1, HSD17B1, UTRN, SPTAN1, RPS9, RPL38, GNAI1, GNAI2, MPRIP, RPS15A, GSTM2, SKP1, EEF2, GNB4, RPL27, SSFA2, DNAJA1, SPTBN1, LIMA1, RPL22L1, RPLP2, RPL27A, FLNB, MYO1D, TUBB, PLEC, MTHFD2, LDHB, RPS17, SDC1, RPS25, CFL1, RCC2, MYOF, RPS6, GPC1, RPL7, TUBA1B, ATP5C1, JUP, ARF4, PPL, RPL13A, RPL23, NCF1, RPS20, GPC4, RPS27, TUFM, HIST1H2AB, S100A8, MYH10, HSPD1, ATP5A1, KBTBD4, PKM, RPS4X, SLC25A5, DCAF11, S100A9, RPL12, LGALS1, MYO1B, RPS3, SDC4, RPS13, MYL12A, CALM1, SLC25A3, RPL31, SNTB2, MYO1C, SETX, RPL13, RPS26, RPS27A, C16orf13, YES1, DDB1, SDCBP, TXN, PDGFRB, OTUD3, PBK, NGB, BCAR1, SPOP, PLK1, CHEK1, BRD4, VHL, MTOR, NF1, ADA, MET, KDM6A, CDK4, CDKN2A, BRAF, PTEN, PIK3R2, PLEKHA1, PTPN13, DLG1, INS, AATK, ERBB3, PTK7, DLC1, RHOA, EIF2AK2, EGFR, ITPR3, MCRS1BTRCTRIM9, TBK1, SMAD4, SMAD3, DLG1, CUL1, SKP1, IKBKB, NFKB1, NFKBIB, BTRC, FBXW11, NFKBIA, UBE2R2, CDC34, RELA, JUP, NFKB2, UBE2D2, HIPK2, PTTG1, BORA, PDCD4, TP63, EPOR, PHLPP1, AMER1, GHR, APC, CDC25A, HIVEP1, HIVEP2, IGHM, NRD1, PRKACA, SERPINB4, OGT, KEAP1, TUBGCP3, NUDC, TUBGCP2, CLPX, SUN2, COPS4, USP47, GPRASP2, KRT79, CLSPN, CTNNB1, EP300, ATF4, PER1, SNAI1, FBXO5, GLI3, WEE1, TNF, SNRNP70, AXIN1, GSK3B, HEY2, CASP3, MYC, RASA1, CDC25B, CLU, UBC, YAP1, TP53, IKBKG, IFNAR1, BST2, DEPTOR, SP1, PSMD4, UBE2D1, BMI1, MDM2, FBXW8, HNRNPU, MAPK14, CSNK2B, DBN1, RASSF1, ZC3H12A, ICE1, PCDH8, KDR, NEDD8, HRAS, CTTN, FAF1, IL10RA, TAZ, PRLR, EEF2K, RNF7, RBX1, BCL2L11, FGD1, AGO2, DDB1, CUL4A, IGF2BP1, FOXO3, WWTR1, ELF3, REST, CDC20, HSF1, CCNE1, BCL10, RCAN1, CCND1, IRAK1, MCL1, PLK4, CHUK, USP37, BTG1, BTG2, FGD3, SKP2, ELAVL1, UHRF1, DDIT4, HSP90AA1, SMURF1, AURKA, CCDC22, TERF1, CRY1, CRY2, PER2, TRIB2, NCOR2, CHPF, HNRNPK, CP, HNRNPC, PRDX1, PSMA3, FZR1, VCP, MAP2K1, MTSS1, UFD1L, NPLOC4, EZH2, SUZ12, OIP5, TFAP4, NEDD4, KRAS, SMURF2, NUAK1, NUAK2, ASF1A, UBE2D3, TIAM1, CDK1, CCNB1, RASSF5, BHLHE40, RAP1GAP, RAPGEF2, TBC1D4, SKP1P2, NFE2, TACC1, ENO1, MOV10, NXF1, E2F1, NFKBIE, AATF, ARIH1, CAND1, CPVL, DAP3, DOCK1, EGFLAM, ELMO2, GPATCH8, HNRNPA3, HNRNPAB, HNRNPD, HNRNPUL2, MRPL12, MRPL15, MRPL21, MRPL24, MRPL37, MRPL38, MRPL4, MRPL40, MRPL41, MRPL44, MRPL47, MRPL48, MRPL49, MRPS18A, MRPS22, MRPS27, MRPS31, MRPS34, MRPS35, YWHAB, YWHAE, YWHAG, YWHAZ, CSNK1A1, CTNNA1, GBF1, HCFC1, HSPB1, NFE2L1, PPP1R15B, PRKAR1A, RBMXL2, REL, STK3, STK4, DLD, TSC22D4, WBP1, SPANXN3, FAM219A, ZBTB46, NFE2L2, UBE4B, ZNF395, ZNF704, PRRC2A, AEBP2, GGNBP2, ALDH2, CEP44, DACT1, FNIP1, RIPK4, RASSF3, CEP68, WWC1, GLI1, SOX9, ALDH1A2, C11orf49, C1orf226, CCDC138, CEP55, DCP1A, DCP1B, DPCD, DVL1, EMG1, LRRC49, NEDD1, NOL10, NOS1AP, NSFL1C, OFD1, PCM1, PDLIM5, PFDN1, PFDN4, PFDN5, PFDN6, PPM1G, RAB5A, RPS10, RPS18, SMG5, SSX2IP, TCP11L2, TJP1, TPGS1, TXNL1, WWOX, ABCD3, ACBD5, BOP1, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT7, COL10A1, KANK2, LRRC47, MDN1, PFDN2, SIRT2, SMG7, TNRC6A, TWISTNB, USMG5, VBP1, VCPIP1, WDR12, AFG3L2, AKAP2, ALDH3A2, ALMS1, BAG2, BUB1B, CNOT11, CCDC50, CKAP5, CLTCL1, CNOT1, CNOT10, CREBRF, DLG5, ERBB2IP, FAM21A, FLCN, GOPC, MAGED1, MAP1S, MAST2, MAST3, MTR, NME7, RGAG1, RQCD1, SPATA5, TCHP, TNRC6B, USP54, YTHDF3, STIL, COPS6, HINT1, CREB3L3, FOXN2, GADD45A, TWIST1, PAQR3, FANCM, LPCAT1, MAP3K2, USP15, FBXW2, LPIN1, ALPP, MTDH, PRKRA, CTNND1, DYRK1A, COPS7A, COPS7B, CHD1, MLPH, KHDRBS2, MYO10, MPRIP, DHX38, EML5, LSP1, PLEKHG5, SH3BP5L, ACOT7, GPR161, IL17RD, BTG3, TUBGCP5, SPATA20, KIF20A, EED, PRICKLE3, FOXN3, RAI14, APBA2, TUBGCP6, RALGAPB, TUBGCP4, CACHD1, MXI1, TNKS1BP1, CNOT2, INTU, CUL5, TRIM25, CENPW


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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RelatedDrugs for PTEN_BTRC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PTEN_BTRC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTENC0018553Hamartoma Syndrome, Multiple29CTD_human;ORPHANET;UNIPROT
HgenePTENC0033578Prostatic Neoplasms11CTD_human
HgenePTENC0265326Bannayan-Riley-Ruvalcaba Syndrome6ORPHANET;UNIPROT
HgenePTENC0376634Craniofacial Abnormalities6CTD_human
HgenePTENC3714756Intellectual Disability5CTD_human;HPO
HgenePTENC0004352Autistic Disorder4CTD_human;HPO
HgenePTENC0014170Endometrial Neoplasms4CTD_human
HgenePTENC1458155Mammary Neoplasms4CTD_human;HPO
HgenePTENC0008073Developmental Disabilities3CTD_human
HgenePTENC0025202melanoma3CTD_human;HPO
HgenePTENC0085261Proteus Syndrome3CTD_human;ORPHANET
HgenePTENC0376358Malignant neoplasm of prostate3UNIPROT
HgenePTENC0282612Prostatic Intraepithelial Neoplasias2CTD_human
HgenePTENC1168401Squamous cell carcinoma of the head and neck2CTD_human;ORPHANET;UNIPROT
HgenePTENC1854416MACROCEPHALY/AUTISM SYNDROME2CTD_human;ORPHANET;UNIPROT
HgenePTENC0001418Adenocarcinoma1CTD_human
HgenePTENC0003081Anisometropia1CTD_human
HgenePTENC0004096Asthma1CTD_human
HgenePTENC0007134Renal Cell Carcinoma1CTD_human
HgenePTENC0010606Adenoid Cystic Carcinoma1CTD_human
HgenePTENC0014173Endometrial Hyperplasia1CTD_human
HgenePTENC0015695Fatty Liver1CTD_human
HgenePTENC0017638Glioma1CTD_human
HgenePTENC0018916Hemangioma1CTD_human;HPO
HgenePTENC0020538Hypertensive disease1CTD_human
HgenePTENC0020564Hypertrophy1CTD_human
HgenePTENC0021655Insulin Resistance1CTD_human
HgenePTENC0023014Language Development Disorders1CTD_human
HgenePTENC0023418leukemia1CTD_human
HgenePTENC0023798Lipoma1CTD_human;HPO
HgenePTENC0023801Lipomatosis1CTD_human
HgenePTENC0023976Long QT Syndrome1CTD_human
HgenePTENC0024121Lung Neoplasms1CTD_human
HgenePTENC0024299Lymphoma1CTD_human
HgenePTENC0025286Meningioma1CTD_human;HPO
HgenePTENC0026613Motor Skills Disorders1CTD_human
HgenePTENC0027055Myocardial Reperfusion Injury1CTD_human
HgenePTENC0027626Neoplasm Invasiveness1CTD_human
HgenePTENC0027627Neoplasm Metastasis1CTD_human
HgenePTENC0030297Pancreatic Neoplasm1CTD_human
HgenePTENC0035126Reperfusion Injury1CTD_human
HgenePTENC0036920Sezary Syndrome1CTD_human
HgenePTENC0037274Dermatologic disorders1CTD_human
HgenePTENC0149925Small cell carcinoma of lung1CTD_human
HgenePTENC0152427Polydactyly1CTD_human
HgenePTENC0175704LEOPARD Syndrome1CTD_human
HgenePTENC0206669Hepatocellular Adenoma1CTD_human
HgenePTENC0206698Cholangiocarcinoma1CTD_human
HgenePTENC0476089Endometrial Carcinoma1HPO;UNIPROT
HgenePTENC0919267ovarian neoplasm1CTD_human;HPO
HgenePTENC1848599VACTERL Association With Hydrocephalus1CTD_human
HgenePTENC2239176Liver carcinoma1CTD_human
HgenePTENC2751642GLIOMA SUSCEPTIBILITY 21UNIPROT
HgenePTENC2931822Nasopharyngeal carcinoma1CTD_human