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Center for Computational Systems Medicine level3
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Potential Active Site Information

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Potentially Interacting Small Molecules through Virtual Screening

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Biochemical Features of Small Molecules with ADME

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Drug Toxicity Information

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:JAZF1-SUZ12

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: JAZF1-SUZ12
FusionPDB ID: 40918
FusionGDB2.0 ID: 40918
HgeneTgene
Gene symbol

JAZF1

SUZ12

Gene ID

221895

23512

Gene nameJAZF zinc finger 1SUZ12 polycomb repressive complex 2 subunit
SynonymsTIP27|ZNF802CHET9|IMMAS|JJAZ1
Cytomap

7p15.2-p15.1

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionjuxtaposed with another zinc finger protein 1TAK1-interacting protein 27juxtaposed with another zinc finger gene 1zinc finger protein 802polycomb protein SUZ12chET 9 proteinchromatin precipitated E2F target 9 proteinjoined to JAZF1 proteinsuppressor of zeste 12 protein homolog
Modification date2020031320200313
UniProtAcc

Q86VZ6

Q15022

Ensembl transtripts involved in fusion geneENST idsENST00000283928, ENST00000466516, 
ENST00000322652, ENST00000580398, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score21 X 19 X 11=438910 X 8 X 5=400
# samples 268
** MAII scorelog2(26/4389*10)=-4.07730874183119
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/400*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: JAZF1 [Title/Abstract] AND SUZ12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)
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
HgeneJAZF1

GO:0000122

negative regulation of transcription by RNA polymerase II

15302918


check buttonFusion gene breakpoints across JAZF1 (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 SUZ12 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerKB3..JAZF1chr7

27934838

-SUZ12chr17

30267304

+
ChimerKB3..JAZF1chr7

28225371

-SUZ12chr17

30267304

+
ChimerKB3..JAZF1chr7

28256968

-SUZ12chr17

30267304

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000283928JAZF1chr727934838-ENST00000322652SUZ12chr1730267304+45395511662496776
ENST00000283928JAZF1chr727934838-ENST00000580398SUZ12chr1730267304+40745511662427753

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 Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>40918_40918_1_JAZF1-SUZ12_JAZF1_chr7_27934838_ENST00000283928_SUZ12_chr17_30267304_ENST00000322652_length(amino acids)=776AA_BP=128
MTGIAAASFFSNTCRFGGCGLHFPTLADLIEHIEDNHIDTDPRVLEKQELQQPTYVALSYINRFMTDAARREQESLKKKIQPKLSLTLSS
SVSRGNVSTPPRHSSGSLTPPVTPPITPSSSFRSSTPTEPTQIYRFLRTRNLIAPIFLHRTLTYMSHRNSRTNIKRKTFKVDDMLSKVEK
MKGEQESHSLSAHLQLTFTGFFHKNDKPSPNSENEQNSVTLEVLLVKVCHKKRKDVSCPIRQVPTGKKQVPLNPDLNQTKPGNFPSLAVS
SNEFEPSNSHMVKSYSLLFRVTRPGRREFNGMINGETNENIDVNEELPARRKRNREDGEKTFVAQMTVFDKNRRLQLLDGEYEVAMQEME
ECPISKKRATWETILDGKRLPPFETFSQGPTLQFTLRWTGETNDKSTAPIAKPLATRNSESLHQENKPGSVKPTQTIAVKESLTTDLQTR
KEKDTPNENRQKLRIFYQFLYNNNTRQQTEARDDLHCPWCTLNCRKLYSLLKHLKLCHSRFIFNYVYHPKGARIDVSINECYDGSYAGNP
QDIHRQPGFAFSRNGPVKRTPITHILVCRPKRTKASMSEFLESEDGEVEQQRTYSSGHNRLYFHSDTCLPLRPQEMEVDSEDEKDPEWLR
EKTITQIEEFSDVNEGEKEVMKLWNLHVMKHGFIADNQMNHACMLFVENYGQKIIKKNLCRNFMLHLVSMHDFNLISIMSIDKAVTKLRE

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

>40918_40918_2_JAZF1-SUZ12_JAZF1_chr7_27934838_ENST00000283928_SUZ12_chr17_30267304_ENST00000580398_length(amino acids)=753AA_BP=128
MTGIAAASFFSNTCRFGGCGLHFPTLADLIEHIEDNHIDTDPRVLEKQELQQPTYVALSYINRFMTDAARREQESLKKKIQPKLSLTLSS
SVSRGNVSTPPRHSSGSLTPPVTPPITPSSSFRSSTPTEPTQIYRFLRTRNLIAPIFLHRTLTYMSHRNSRTNIKSLSAHLQLTFTGFFH
KNDKPSPNSENEQNSVTLEVLLVKVCHKKRKDVSCPIRQVPTGKKQVPLNPDLNQTKPGNFPSLAVSSNEFEPSNSHMVKSYSLLFRVTR
PGRREFNGMINGETNENIDVNEELPARRKRNREDGEKTFVAQMTVFDKNRRLQLLDGEYEVAMQEMEECPISKKRATWETILDGKRLPPF
ETFSQGPTLQFTLRWTGETNDKSTAPIAKPLATRNSESLHQENKPGSVKPTQTIAVKESLTTDLQTRKEKDTPNENRQKLRIFYQFLYNN
NTRQQTEARDDLHCPWCTLNCRKLYSLLKHLKLCHSRFIFNYVYHPKGARIDVSINECYDGSYAGNPQDIHRQPGFAFSRNGPVKRTPIT
HILVCRPKRTKASMSEFLESEDGEVEQQRTYSSGHNRLYFHSDTCLPLRPQEMEVDSEDEKDPEWLREKTITQIEEFSDVNEGEKEVMKL
WNLHVMKHGFIADNQMNHACMLFVENYGQKIIKKNLCRNFMLHLVSMHDFNLISIMSIDKAVTKLREMQQKLEKGESASPANEEITEEQN

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Fusion Protein Functional Features


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/chr7:/chr17:)
- 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
JAZF1

Q86VZ6

SUZ12

Q15022

FUNCTION: Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2 (PubMed:15302918). Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity (By similarity). Also involved in transcriptional activation of NAMPT by promoting expression of PPARA and PPARD (By similarity). Plays a role in lipid metabolism by suppressing lipogenesis, increasing lipolysis and decreasing lipid accumulation in adipose tissue (By similarity). Plays a role in glucose homeostasis by improving glucose metabolism and insulin sensitivity (By similarity). {ECO:0000250|UniProtKB:Q80ZQ5, ECO:0000269|PubMed:15302918}.FUNCTION: Polycomb group (PcG) protein. Component of the PRC2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene (PubMed:15225548, PubMed:15231737, PubMed:15385962, PubMed:16618801, PubMed:17344414, PubMed:18285464, PubMed:28229514, PubMed:29499137, PubMed:31959557). The PRC2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems (PubMed:12435631, PubMed:12351676, PubMed:15385962, PubMed:15099518, PubMed:15225548, PubMed:15684044, PubMed:16431907, PubMed:18086877, PubMed:18285464). Genes repressed by the PRC2 complex include HOXC8, HOXA9, MYT1 and CDKN2A (PubMed:15231737, PubMed:16618801, PubMed:17200670, PubMed:31959557). {ECO:0000269|PubMed:12351676, ECO:0000269|PubMed:12435631, ECO:0000269|PubMed:15099518, ECO:0000269|PubMed:15225548, ECO:0000269|PubMed:15231737, ECO:0000269|PubMed:15385962, ECO:0000269|PubMed:15684044, ECO:0000269|PubMed:16431907, ECO:0000269|PubMed:16618801, ECO:0000269|PubMed:17200670, ECO:0000269|PubMed:17344414, ECO:0000269|PubMed:18086877, ECO:0000269|PubMed:18285464, ECO:0000269|PubMed:28229514, ECO:0000269|PubMed:29499137, ECO:0000269|PubMed:31959557}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file (618) >>>618.pdbFusion protein BP residue: 128
CIF file (618) >>>618.cif
JAZF1chr727934838-SUZ12chr1730267304+
MTGIAAASFFSNTCRFGGCGLHFPTLADLIEHIEDNHIDTDPRVLEKQEL
QQPTYVALSYINRFMTDAARREQESLKKKIQPKLSLTLSSSVSRGNVSTP
PRHSSGSLTPPVTPPITPSSSFRSSTPTEPTQIYRFLRTRNLIAPIFLHR
TLTYMSHRNSRTNIKSLSAHLQLTFTGFFHKNDKPSPNSENEQNSVTLEV
LLVKVCHKKRKDVSCPIRQVPTGKKQVPLNPDLNQTKPGNFPSLAVSSNE
FEPSNSHMVKSYSLLFRVTRPGRREFNGMINGETNENIDVNEELPARRKR
NREDGEKTFVAQMTVFDKNRRLQLLDGEYEVAMQEMEECPISKKRATWET
ILDGKRLPPFETFSQGPTLQFTLRWTGETNDKSTAPIAKPLATRNSESLH
QENKPGSVKPTQTIAVKESLTTDLQTRKEKDTPNENRQKLRIFYQFLYNN
NTRQQTEARDDLHCPWCTLNCRKLYSLLKHLKLCHSRFIFNYVYHPKGAR
IDVSINECYDGSYAGNPQDIHRQPGFAFSRNGPVKRTPITHILVCRPKRT
KASMSEFLESEDGEVEQQRTYSSGHNRLYFHSDTCLPLRPQEMEVDSEDE
KDPEWLREKTITQIEEFSDVNEGEKEVMKLWNLHVMKHGFIADNQMNHAC
MLFVENYGQKIIKKNLCRNFMLHLVSMHDFNLISIMSIDKAVTKLREMQQ
KLEKGESASPANEEITEEQNGTANGFSEINSKEKALETDSVSGVSKQSKK
753
3D view using mol* of 618 (AA BP:128)
PDB file (634) >>>634.pdbFusion protein BP residue: 128
CIF file (634) >>>634.cif
JAZF1chr727934838-SUZ12chr1730267304+
MTGIAAASFFSNTCRFGGCGLHFPTLADLIEHIEDNHIDTDPRVLEKQEL
QQPTYVALSYINRFMTDAARREQESLKKKIQPKLSLTLSSSVSRGNVSTP
PRHSSGSLTPPVTPPITPSSSFRSSTPTEPTQIYRFLRTRNLIAPIFLHR
TLTYMSHRNSRTNIKRKTFKVDDMLSKVEKMKGEQESHSLSAHLQLTFTG
FFHKNDKPSPNSENEQNSVTLEVLLVKVCHKKRKDVSCPIRQVPTGKKQV
PLNPDLNQTKPGNFPSLAVSSNEFEPSNSHMVKSYSLLFRVTRPGRREFN
GMINGETNENIDVNEELPARRKRNREDGEKTFVAQMTVFDKNRRLQLLDG
EYEVAMQEMEECPISKKRATWETILDGKRLPPFETFSQGPTLQFTLRWTG
ETNDKSTAPIAKPLATRNSESLHQENKPGSVKPTQTIAVKESLTTDLQTR
KEKDTPNENRQKLRIFYQFLYNNNTRQQTEARDDLHCPWCTLNCRKLYSL
LKHLKLCHSRFIFNYVYHPKGARIDVSINECYDGSYAGNPQDIHRQPGFA
FSRNGPVKRTPITHILVCRPKRTKASMSEFLESEDGEVEQQRTYSSGHNR
LYFHSDTCLPLRPQEMEVDSEDEKDPEWLREKTITQIEEFSDVNEGEKEV
MKLWNLHVMKHGFIADNQMNHACMLFVENYGQKIIKKNLCRNFMLHLVSM
HDFNLISIMSIDKAVTKLREMQQKLEKGESASPANEEITEEQNGTANGFS
776
3D view using mol* of 634 (AA BP:128)


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
JAZF1_pLDDT.png
all structure
all structure
SUZ12_pLDDT.png
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
JAZF1_SUZ12_618_pLDDT.png (AA BP:128)
all structure
JAZF1_SUZ12_618_pLDDT_and_active_sites.png (AA BP:128)
all structure
JAZF1_SUZ12_618_violinplot.png (AA BP:128)
all structure
JAZF1_SUZ12_634_pLDDT.png (AA BP:128)
all structure
JAZF1_SUZ12_634_pLDDT_and_active_sites.png (AA BP:128)
all structure
JAZF1_SUZ12_634_violinplot.png (AA BP:128)
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots
JAZF1_SUZ12_618.png
all structure
JAZF1_SUZ12_634.png
all structure

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Potential Active Site Information


check button The potential binding sites of these fusion proteins were identified using SiteMap, a module of the Schrodinger suite.
Fusion AA seq ID in FusionPDBSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
6181.0031321.065342.3140.6770.6230.8240.7830.7641.0240.537Chain A: 510,512,513,517,518,519,520,521,522,523,5
24,525,526,528,529,534,535,536,537,538,539,540,541
,572,576,581,586,587,589,590,591,592
6341.0631721.118518.6160.5390.7130.9491.1720.7661.5290.921Chain A: 58,59,61,62,63,64,65,118,122,123,124,125,
126,127,128,131,135,467,469,470,471,476,477,479,48
0,482,486,487,488,489,491,511

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Potentially Interacting Small Molecules through Virtual Screening


check button The FDA-approved small molecule library molecules were subjected to virtual screening using the Glide.
Fusion AA seq ID in FusionPDBZINC IDDrugBank IDDrug nameDocking scoreGlide gscore

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check button Drug information from DrugBank of the top 20 interacting small molecules.
ZINC IDDrugBank IDDrug nameDrug typeSMILESDrug group

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Biochemical Features of Small Molecules


check button ADME (Absorption, Distribution, Metabolism, and Excretion) of drugs using QikProp(v3.9)
ZINC IDmol_MWdipoleSASAFOSAFISAPISAWPSAvolumedonorHBaccptHBIPHuman Oral AbsorptionPercent Human Oral AbsorptionRule Of FiveRule Of Three


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Drug Toxicity Information


check button Toxicity information of individual drugs using eToxPred
ZINC IDSmileSurface AccessibilityToxicity


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
JAZF1NR2C2, PPARG, RXRA, YEATS4, TRRAP, Ruvbl1, MEAF6, RUVBL1, MYCL, HIST1H2BA, MORF4L2, HIST1H4A, FAM9B, BRD8, SUZ12, KAT5, EP400, DMAP1, EPC1, EPC2, MBTD1, MRGBP, DDX39A, NR2C1, METAP2, CLTCL1, H2AFZ, VPS72, ACAD11, ING3, ING5,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
JAZF1all structure
SUZ12all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to JAZF1-SUZ12


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to JAZF1-SUZ12


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID
JAZF1SUZ12Low-Grade Endometrial Stromal SarcomaMyCancerGenome
JAZF1SUZ12Acute Myeloid LeukemiaMyCancerGenome
JAZF1SUZ12Adenocarcinoma Of Unknown PrimaryMyCancerGenome
JAZF1SUZ12Breast Invasive Ductal CarcinomaMyCancerGenome
JAZF1SUZ12Conventional Glioblastoma MultiformeMyCancerGenome

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneJAZF1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneJAZF1C0014170Endometrial Neoplasms1CTD_human
HgeneJAZF1C0024141Lupus Erythematosus, Systemic1CTD_human;ORPHANET
HgeneJAZF1C0033578Prostatic Neoplasms1CTD_human
HgeneJAZF1C0206630Endometrial Stromal Sarcoma1ORPHANET
HgeneJAZF1C0242380Libman-Sacks Disease1CTD_human
HgeneJAZF1C0376358Malignant neoplasm of prostate1CTD_human
HgeneJAZF1C0476089Endometrial Carcinoma1CTD_human
TgeneSUZ12C0206727Nerve Sheath Tumors2CTD_human
TgeneSUZ12C0751689Peripheral Nerve Sheath Neoplasm2CTD_human
TgeneSUZ12C0751691Perineurioma2CTD_human
TgeneSUZ12C0001430Adenoma1CTD_human
TgeneSUZ12C0014170Endometrial Neoplasms1CTD_human
TgeneSUZ12C0017636Glioblastoma1CTD_human
TgeneSUZ12C0017638Glioma1CTD_human
TgeneSUZ12C0025202melanoma1CTD_human
TgeneSUZ12C0027809Neurilemmoma1CTD_human
TgeneSUZ12C0027830neurofibroma1CTD_human
TgeneSUZ12C0027962Melanocytic nevus1CTD_human
TgeneSUZ12C0042063Urogenital Abnormalities1GENOMICS_ENGLAND
TgeneSUZ12C0205646Adenoma, Basal Cell1CTD_human
TgeneSUZ12C0205647Follicular adenoma1CTD_human
TgeneSUZ12C0205648Adenoma, Microcystic1CTD_human
TgeneSUZ12C0205649Adenoma, Monomorphic1CTD_human
TgeneSUZ12C0205650Papillary adenoma1CTD_human
TgeneSUZ12C0205651Adenoma, Trabecular1CTD_human
TgeneSUZ12C0206630Endometrial Stromal Sarcoma1ORPHANET
TgeneSUZ12C0259783mixed gliomas1CTD_human
TgeneSUZ12C0265210Weaver syndrome1ORPHANET
TgeneSUZ12C0334588Giant Cell Glioblastoma1CTD_human
TgeneSUZ12C0476089Endometrial Carcinoma1CTD_human
TgeneSUZ12C0545053Advanced bone age1GENOMICS_ENGLAND
TgeneSUZ12C0555198Malignant Glioma1CTD_human
TgeneSUZ12C0557874Global developmental delay1GENOMICS_ENGLAND
TgeneSUZ12C0751374Schwannomatosis, Plexiform1CTD_human
TgeneSUZ12C1621958Glioblastoma Multiforme1CTD_human
TgeneSUZ12C1842581Abnormal corpus callosum morphology1GENOMICS_ENGLAND
TgeneSUZ12C1849265Overgrowth1GENOMICS_ENGLAND
TgeneSUZ12C3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneSUZ12C4018871Abnormality of the respiratory system1GENOMICS_ENGLAND
TgeneSUZ12C4021664Abnormality of the abdominal wall1GENOMICS_ENGLAND
TgeneSUZ12C4021790Abnormality of the skeletal system1GENOMICS_ENGLAND