UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:IFT20-SUZ12

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: IFT20-SUZ12
FusionPDB ID: 38417
FusionGDB2.0 ID: 38417
HgeneTgene
Gene symbol

IFT20

SUZ12

Gene ID

90410

23512

Gene nameintraflagellar transport 20SUZ12 polycomb repressive complex 2 subunit
Synonyms-CHET9|IMMAS|JJAZ1
Cytomap

17q11.2

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionintraflagellar transport protein 20 homologintraflagellar transport 20 homologintraflagellar transport protein IFT20polycomb protein SUZ12chET 9 proteinchromatin precipitated E2F target 9 proteinjoined to JAZF1 proteinsuppressor of zeste 12 protein homolog
Modification date2020032720200313
UniProtAcc

Q8IY31

Q15022

Ensembl transtripts involved in fusion geneENST idsENST00000357896, ENST00000578122, 
ENST00000585089, ENST00000395418, 
ENST00000579419, ENST00000585313, 
ENST00000578985, 
ENST00000322652, 
ENST00000580398, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 3 X 3=2710 X 8 X 5=400
# samples 38
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: IFT20 [Title/Abstract] AND SUZ12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)IFT20(26656199)-SUZ12(30267305), # samples:2
Anticipated loss of major functional domain due to fusion event.IFT20-SUZ12 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
IFT20-SUZ12 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
IFT20-SUZ12 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
IFT20-SUZ12 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
IFT20-SUZ12 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
IFT20-SUZ12 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
IFT20-SUZ12 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
IFT20-SUZ12 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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

check buttonFusion gene breakpoints across IFT20 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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.
all structure


Top

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
ChimerDB4BRCATCGA-A8-A08F-01AIFT20chr17

26656199

-SUZ12chr17

30267305

+


Top

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)
ENST00000579419IFT20chr1726656199-ENST00000322652SUZ12chr1730267305+44434555112400629
ENST00000579419IFT20chr1726656199-ENST00000580398SUZ12chr1730267305+39784555112331606
ENST00000395418IFT20chr1726656199-ENST00000322652SUZ12chr1730267305+44084204762365629
ENST00000395418IFT20chr1726656199-ENST00000580398SUZ12chr1730267305+39434204762296606
ENST00000585313IFT20chr1726656199-ENST00000322652SUZ12chr1730267305+44434555112400629
ENST00000585313IFT20chr1726656199-ENST00000580398SUZ12chr1730267305+39784555112331606

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
ENST00000579419ENST00000322652IFT20chr1726656199-SUZ12chr1730267305+0.0002606790.99973935
ENST00000579419ENST00000580398IFT20chr1726656199-SUZ12chr1730267305+0.0001931890.9998068
ENST00000395418ENST00000322652IFT20chr1726656199-SUZ12chr1730267305+0.000245510.9997545
ENST00000395418ENST00000580398IFT20chr1726656199-SUZ12chr1730267305+0.0001804480.9998196
ENST00000585313ENST00000322652IFT20chr1726656199-SUZ12chr1730267305+0.0002606790.99973935
ENST00000585313ENST00000580398IFT20chr1726656199-SUZ12chr1730267305+0.0001931890.9998068

Top

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

>38417_38417_1_IFT20-SUZ12_IFT20_chr17_26656199_ENST00000395418_SUZ12_chr17_30267305_ENST00000322652_length(amino acids)=629AA_BP=
MHRTLTYMSHRNSRTNIKRKTFKVDDMLSKVEKMKGEQESHSLSAHLQLTFTGFFHKNDKPSPNSENEQNSVTLEVLLVKVCHKKRKDVS
CPIRQVPTGKKQVPLNPDLNQTKPGNFPSLAVSSNEFEPSNSHMVKSYSLLFRVTRPGRREFNGMINGETNENIDVNEELPARRKRNRED
GEKTFVAQMTVFDKNRRLQLLDGEYEVAMQEMEECPISKKRATWETILDGKRLPPFETFSQGPTLQFTLRWTGETNDKSTAPIAKPLATR
NSESLHQENKPGSVKPTQTIAVKESLTTDLQTRKEKDTPNENRQKLRIFYQFLYNNNTRQQTEARDDLHCPWCTLNCRKLYSLLKHLKLC
HSRFIFNYVYHPKGARIDVSINECYDGSYAGNPQDIHRQPGFAFSRNGPVKRTPITHILVCRPKRTKASMSEFLESEDGEVEQQRTYSSG
HNRLYFHSDTCLPLRPQEMEVDSEDEKDPEWLREKTITQIEEFSDVNEGEKEVMKLWNLHVMKHGFIADNQMNHACMLFVENYGQKIIKK

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

>38417_38417_2_IFT20-SUZ12_IFT20_chr17_26656199_ENST00000395418_SUZ12_chr17_30267305_ENST00000580398_length(amino acids)=606AA_BP=
MHRTLTYMSHRNSRTNIKSLSAHLQLTFTGFFHKNDKPSPNSENEQNSVTLEVLLVKVCHKKRKDVSCPIRQVPTGKKQVPLNPDLNQTK
PGNFPSLAVSSNEFEPSNSHMVKSYSLLFRVTRPGRREFNGMINGETNENIDVNEELPARRKRNREDGEKTFVAQMTVFDKNRRLQLLDG
EYEVAMQEMEECPISKKRATWETILDGKRLPPFETFSQGPTLQFTLRWTGETNDKSTAPIAKPLATRNSESLHQENKPGSVKPTQTIAVK
ESLTTDLQTRKEKDTPNENRQKLRIFYQFLYNNNTRQQTEARDDLHCPWCTLNCRKLYSLLKHLKLCHSRFIFNYVYHPKGARIDVSINE
CYDGSYAGNPQDIHRQPGFAFSRNGPVKRTPITHILVCRPKRTKASMSEFLESEDGEVEQQRTYSSGHNRLYFHSDTCLPLRPQEMEVDS
EDEKDPEWLREKTITQIEEFSDVNEGEKEVMKLWNLHVMKHGFIADNQMNHACMLFVENYGQKIIKKNLCRNFMLHLVSMHDFNLISIMS

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

>38417_38417_3_IFT20-SUZ12_IFT20_chr17_26656199_ENST00000579419_SUZ12_chr17_30267305_ENST00000322652_length(amino acids)=629AA_BP=
MHRTLTYMSHRNSRTNIKRKTFKVDDMLSKVEKMKGEQESHSLSAHLQLTFTGFFHKNDKPSPNSENEQNSVTLEVLLVKVCHKKRKDVS
CPIRQVPTGKKQVPLNPDLNQTKPGNFPSLAVSSNEFEPSNSHMVKSYSLLFRVTRPGRREFNGMINGETNENIDVNEELPARRKRNRED
GEKTFVAQMTVFDKNRRLQLLDGEYEVAMQEMEECPISKKRATWETILDGKRLPPFETFSQGPTLQFTLRWTGETNDKSTAPIAKPLATR
NSESLHQENKPGSVKPTQTIAVKESLTTDLQTRKEKDTPNENRQKLRIFYQFLYNNNTRQQTEARDDLHCPWCTLNCRKLYSLLKHLKLC
HSRFIFNYVYHPKGARIDVSINECYDGSYAGNPQDIHRQPGFAFSRNGPVKRTPITHILVCRPKRTKASMSEFLESEDGEVEQQRTYSSG
HNRLYFHSDTCLPLRPQEMEVDSEDEKDPEWLREKTITQIEEFSDVNEGEKEVMKLWNLHVMKHGFIADNQMNHACMLFVENYGQKIIKK

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

>38417_38417_4_IFT20-SUZ12_IFT20_chr17_26656199_ENST00000579419_SUZ12_chr17_30267305_ENST00000580398_length(amino acids)=606AA_BP=
MHRTLTYMSHRNSRTNIKSLSAHLQLTFTGFFHKNDKPSPNSENEQNSVTLEVLLVKVCHKKRKDVSCPIRQVPTGKKQVPLNPDLNQTK
PGNFPSLAVSSNEFEPSNSHMVKSYSLLFRVTRPGRREFNGMINGETNENIDVNEELPARRKRNREDGEKTFVAQMTVFDKNRRLQLLDG
EYEVAMQEMEECPISKKRATWETILDGKRLPPFETFSQGPTLQFTLRWTGETNDKSTAPIAKPLATRNSESLHQENKPGSVKPTQTIAVK
ESLTTDLQTRKEKDTPNENRQKLRIFYQFLYNNNTRQQTEARDDLHCPWCTLNCRKLYSLLKHLKLCHSRFIFNYVYHPKGARIDVSINE
CYDGSYAGNPQDIHRQPGFAFSRNGPVKRTPITHILVCRPKRTKASMSEFLESEDGEVEQQRTYSSGHNRLYFHSDTCLPLRPQEMEVDS
EDEKDPEWLREKTITQIEEFSDVNEGEKEVMKLWNLHVMKHGFIADNQMNHACMLFVENYGQKIIKKNLCRNFMLHLVSMHDFNLISIMS

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

>38417_38417_5_IFT20-SUZ12_IFT20_chr17_26656199_ENST00000585313_SUZ12_chr17_30267305_ENST00000322652_length(amino acids)=629AA_BP=
MHRTLTYMSHRNSRTNIKRKTFKVDDMLSKVEKMKGEQESHSLSAHLQLTFTGFFHKNDKPSPNSENEQNSVTLEVLLVKVCHKKRKDVS
CPIRQVPTGKKQVPLNPDLNQTKPGNFPSLAVSSNEFEPSNSHMVKSYSLLFRVTRPGRREFNGMINGETNENIDVNEELPARRKRNRED
GEKTFVAQMTVFDKNRRLQLLDGEYEVAMQEMEECPISKKRATWETILDGKRLPPFETFSQGPTLQFTLRWTGETNDKSTAPIAKPLATR
NSESLHQENKPGSVKPTQTIAVKESLTTDLQTRKEKDTPNENRQKLRIFYQFLYNNNTRQQTEARDDLHCPWCTLNCRKLYSLLKHLKLC
HSRFIFNYVYHPKGARIDVSINECYDGSYAGNPQDIHRQPGFAFSRNGPVKRTPITHILVCRPKRTKASMSEFLESEDGEVEQQRTYSSG
HNRLYFHSDTCLPLRPQEMEVDSEDEKDPEWLREKTITQIEEFSDVNEGEKEVMKLWNLHVMKHGFIADNQMNHACMLFVENYGQKIIKK

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

>38417_38417_6_IFT20-SUZ12_IFT20_chr17_26656199_ENST00000585313_SUZ12_chr17_30267305_ENST00000580398_length(amino acids)=606AA_BP=
MHRTLTYMSHRNSRTNIKSLSAHLQLTFTGFFHKNDKPSPNSENEQNSVTLEVLLVKVCHKKRKDVSCPIRQVPTGKKQVPLNPDLNQTK
PGNFPSLAVSSNEFEPSNSHMVKSYSLLFRVTRPGRREFNGMINGETNENIDVNEELPARRKRNREDGEKTFVAQMTVFDKNRRLQLLDG
EYEVAMQEMEECPISKKRATWETILDGKRLPPFETFSQGPTLQFTLRWTGETNDKSTAPIAKPLATRNSESLHQENKPGSVKPTQTIAVK
ESLTTDLQTRKEKDTPNENRQKLRIFYQFLYNNNTRQQTEARDDLHCPWCTLNCRKLYSLLKHLKLCHSRFIFNYVYHPKGARIDVSINE
CYDGSYAGNPQDIHRQPGFAFSRNGPVKRTPITHILVCRPKRTKASMSEFLESEDGEVEQQRTYSSGHNRLYFHSDTCLPLRPQEMEVDS
EDEKDPEWLREKTITQIEEFSDVNEGEKEVMKLWNLHVMKHGFIADNQMNHACMLFVENYGQKIIKKNLCRNFMLHLVSMHDFNLISIMS

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

Top

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/chr17:26656199/chr17:30267305)
- 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
IFT20

Q8IY31

SUZ12

Q15022

FUNCTION: Part of intraflagellar transport (IFT) particles involved in ciliary process assembly. May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium (PubMed:16775004). Regulates the platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway. Required for protein stability of E3 ubiquitin ligases CBL and CBLB that mediate ubiquitination and internalization of PDGFRA for proper feedback inhibition of PDGFRA signaling (PubMed:29237719). Essential for male fertility. Plays an important role in spermatogenesis, particularly spermiogenesis, when germ cells form flagella. May play a role in the transport of flagellar proteins ODF2 and SPAG16 to build sperm flagella and in the removal of redundant sperm cytoplasm (By similarity). Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment (By similarity). {ECO:0000250|UniProtKB:Q61025, ECO:0000269|PubMed:16775004, ECO:0000269|PubMed:29237719}.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
HgeneIFT20chr17:26656199chr17:30267305ENST00000357896-5674_114145.0149.0Coiled coilOntology_term=ECO:0000255
HgeneIFT20chr17:26656199chr17:30267305ENST00000585089-5674_114131.66666666666666159.0Coiled coilOntology_term=ECO:0000255
HgeneIFT20chr17:26656199chr17:30267305ENST00000357896-5670_132145.0149.0RegionIFT57-binding
HgeneIFT20chr17:26656199chr17:30267305ENST00000585089-5670_132131.66666666666666159.0RegionIFT57-binding
TgeneSUZ12chr17:26656199chr17:30267305ENST00000322652016563_63991.33333333333333740.0RegionNote=VEFS-box
TgeneSUZ12chr17:26656199chr17:30267305ENST00000322652016448_47191.33333333333333740.0Zinc fingerNote=C2H2-type

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneIFT20chr17:26656199chr17:30267305ENST00000395418-4574_114105.66666666666667133.0Coiled coilOntology_term=ECO:0000255
HgeneIFT20chr17:26656199chr17:30267305ENST00000579419-5674_114105.66666666666667115.0Coiled coilOntology_term=ECO:0000255
HgeneIFT20chr17:26656199chr17:30267305ENST00000585313-5674_114105.66666666666667133.0Coiled coilOntology_term=ECO:0000255
HgeneIFT20chr17:26656199chr17:30267305ENST00000395418-4570_132105.66666666666667133.0RegionIFT57-binding
HgeneIFT20chr17:26656199chr17:30267305ENST00000579419-5670_132105.66666666666667115.0RegionIFT57-binding
HgeneIFT20chr17:26656199chr17:30267305ENST00000585313-5670_132105.66666666666667133.0RegionIFT57-binding
TgeneSUZ12chr17:26656199chr17:30267305ENST0000032265201651_5991.33333333333333740.0Compositional biasNote=Poly-Ser
TgeneSUZ12chr17:26656199chr17:30267305ENST0000032265201660_6791.33333333333333740.0Compositional biasNote=Poly-Ala
TgeneSUZ12chr17:26656199chr17:30267305ENST000003226520167_5091.33333333333333740.0Compositional biasNote=Gly-rich


Top

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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
IFT20
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
TgeneSUZ12chr17:26656199chr17:30267305ENST0000032265201679_10691.33333333333333740.0JARID2 and EPOP


Top

Related Drugs to IFT20-SUZ12


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

Top

Related Diseases to IFT20-SUZ12


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
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