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Center for Computational Systems Medicine level2
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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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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:HMGA2-GNS

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: HMGA2-GNS
FusionPDB ID: 36835
FusionGDB2.0 ID: 36835
HgeneTgene
Gene symbol

HMGA2

GNS

Gene ID

8091

2799

Gene namehigh mobility group AT-hook 2glucosamine (N-acetyl)-6-sulfatase
SynonymsBABL|HMGI-C|HMGIC|LIPO|STQTL9G6S
Cytomap

12q14.3

12q14.3

Type of geneprotein-codingprotein-coding
Descriptionhigh mobility group protein HMGI-CHMGA2/KRT121P fusionhigh-mobility group (nonhistone chromosomal) protein isoform I-CN-acetylglucosamine-6-sulfataseglucosamine -6-sulfatase
Modification date2020032920200313
UniProtAcc

P52926

P15586

Ensembl transtripts involved in fusion geneENST idsENST00000354636, ENST00000393577, 
ENST00000393578, ENST00000403681, 
ENST00000425208, ENST00000536545, 
ENST00000541363, 
ENST00000542058, 
ENST00000258145, ENST00000418919, 
ENST00000543646, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score43 X 25 X 15=161258 X 8 X 4=256
# samples 438
** MAII scorelog2(43/16125*10)=-5.22881869049588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: HMGA2 [Title/Abstract] AND GNS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)HMGA2(66232349)-GNS(65146537), # samples:3
Anticipated loss of major functional domain due to fusion event.HMGA2-GNS 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.
HMGA2-GNS 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.
* 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
HgeneHMGA2

GO:0000122

negative regulation of transcription by RNA polymerase II

14627817

HgeneHMGA2

GO:0002062

chondrocyte differentiation

21484705

HgeneHMGA2

GO:0006284

base-excision repair

19465398

HgeneHMGA2

GO:0007095

mitotic G2 DNA damage checkpoint

16061642

HgeneHMGA2

GO:0010564

regulation of cell cycle process

14645522

HgeneHMGA2

GO:0010628

positive regulation of gene expression

18832382

HgeneHMGA2

GO:0031052

chromosome breakage

19549901

HgeneHMGA2

GO:0031507

heterochromatin assembly

16901784

HgeneHMGA2

GO:0035978

histone H2A-S139 phosphorylation

16061642

HgeneHMGA2

GO:0035986

senescence-associated heterochromatin focus assembly

16901784

HgeneHMGA2

GO:0035988

chondrocyte proliferation

21484705

HgeneHMGA2

GO:0042769

DNA damage response, detection of DNA damage

19465398

HgeneHMGA2

GO:0043065

positive regulation of apoptotic process

16061642

HgeneHMGA2

GO:0043066

negative regulation of apoptotic process

19465398

HgeneHMGA2

GO:0043392

negative regulation of DNA binding

14645522

HgeneHMGA2

GO:0043922

negative regulation by host of viral transcription

17005673

HgeneHMGA2

GO:0045869

negative regulation of single stranded viral RNA replication via double stranded DNA intermediate

17005673

HgeneHMGA2

GO:0045892

negative regulation of transcription, DNA-templated

18832382

HgeneHMGA2

GO:0045893

positive regulation of transcription, DNA-templated

15225648|15755872|17005673|17324944|17426251

HgeneHMGA2

GO:0045944

positive regulation of transcription by RNA polymerase II

14645522|18832382

HgeneHMGA2

GO:0071158

positive regulation of cell cycle arrest

16061642

HgeneHMGA2

GO:0071902

positive regulation of protein serine/threonine kinase activity

19549901

HgeneHMGA2

GO:0090402

oncogene-induced cell senescence

16901784

HgeneHMGA2

GO:2000648

positive regulation of stem cell proliferation

21484705

HgeneHMGA2

GO:2000679

positive regulation of transcription regulatory region DNA binding

18832382

HgeneHMGA2

GO:2000685

positive regulation of cellular response to X-ray

16061642

HgeneHMGA2

GO:2001022

positive regulation of response to DNA damage stimulus

16061642|19465398

HgeneHMGA2

GO:2001033

negative regulation of double-strand break repair via nonhomologous end joining

19549901

HgeneHMGA2

GO:2001038

regulation of cellular response to drug

16061642


check buttonFusion gene breakpoints across HMGA2 (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 GNS (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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
ChimerDB4SKCMTCGA-EB-A3HV-01AHMGA2chr12

66232349

+GNSchr12

65146537

-
ChimerDB4SKCMTCGA-EB-A3HVHMGA2chr12

66232349

+GNSchr12

65146537

-


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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)
ENST00000403681HMGA2chr1266232349+ENST00000418919GNSchr1265146537-61521389114992292
ENST00000403681HMGA2chr1266232349+ENST00000258145GNSchr1265146537-6148138911402855571
ENST00000403681HMGA2chr1266232349+ENST00000543646GNSchr1265146537-3135138911402855571
ENST00000541363HMGA2chr1266232349+ENST00000418919GNSchr1265146537-538562247975384196
ENST00000541363HMGA2chr1266232349+ENST00000258145GNSchr1265146537-53816223732088571
ENST00000541363HMGA2chr1266232349+ENST00000543646GNSchr1265146537-23686223732088571
ENST00000393577HMGA2chr1266232349+ENST00000418919GNSchr1265146537-516039745725159196
ENST00000393577HMGA2chr1266232349+ENST00000258145GNSchr1265146537-51563971481863571
ENST00000393577HMGA2chr1266232349+ENST00000543646GNSchr1265146537-21433971481863571
ENST00000393578HMGA2chr1266232349+ENST00000418919GNSchr1265146537-582310601663220
ENST00000393578HMGA2chr1266232349+ENST00000258145GNSchr1265146537-581910608112526571
ENST00000393578HMGA2chr1266232349+ENST00000543646GNSchr1265146537-280610608112526571
ENST00000425208HMGA2chr1266232349+ENST00000418919GNSchr1265146537-582310601663220
ENST00000425208HMGA2chr1266232349+ENST00000258145GNSchr1265146537-581910608112526571
ENST00000425208HMGA2chr1266232349+ENST00000543646GNSchr1265146537-280610608112526571
ENST00000536545HMGA2chr1266232349+ENST00000418919GNSchr1265146537-582310601663220
ENST00000536545HMGA2chr1266232349+ENST00000258145GNSchr1265146537-581910608112526571
ENST00000536545HMGA2chr1266232349+ENST00000543646GNSchr1265146537-280610608112526571
ENST00000354636HMGA2chr1266232349+ENST00000418919GNSchr1265146537-582310601663220
ENST00000354636HMGA2chr1266232349+ENST00000258145GNSchr1265146537-581910608112526571
ENST00000354636HMGA2chr1266232349+ENST00000543646GNSchr1265146537-280610608112526571

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
ENST00000403681ENST00000418919HMGA2chr1266232349+GNSchr1265146537-0.210087050.789913
ENST00000403681ENST00000258145HMGA2chr1266232349+GNSchr1265146537-0.0009411640.9990589
ENST00000403681ENST00000543646HMGA2chr1266232349+GNSchr1265146537-0.0034283720.99657166
ENST00000541363ENST00000418919HMGA2chr1266232349+GNSchr1265146537-0.205072840.7949272
ENST00000541363ENST00000258145HMGA2chr1266232349+GNSchr1265146537-0.0007097650.9992902
ENST00000541363ENST00000543646HMGA2chr1266232349+GNSchr1265146537-0.0033474530.99665254
ENST00000393577ENST00000418919HMGA2chr1266232349+GNSchr1265146537-0.213506620.7864934
ENST00000393577ENST00000258145HMGA2chr1266232349+GNSchr1265146537-0.000534060.999466
ENST00000393577ENST00000543646HMGA2chr1266232349+GNSchr1265146537-0.003097820.9969022
ENST00000393578ENST00000418919HMGA2chr1266232349+GNSchr1265146537-0.204997880.7950021
ENST00000393578ENST00000258145HMGA2chr1266232349+GNSchr1265146537-0.0007833930.99921656
ENST00000393578ENST00000543646HMGA2chr1266232349+GNSchr1265146537-0.0033516550.9966484
ENST00000425208ENST00000418919HMGA2chr1266232349+GNSchr1265146537-0.204997880.7950021
ENST00000425208ENST00000258145HMGA2chr1266232349+GNSchr1265146537-0.0007833930.99921656
ENST00000425208ENST00000543646HMGA2chr1266232349+GNSchr1265146537-0.0033516550.9966484
ENST00000536545ENST00000418919HMGA2chr1266232349+GNSchr1265146537-0.204997880.7950021
ENST00000536545ENST00000258145HMGA2chr1266232349+GNSchr1265146537-0.0007833930.99921656
ENST00000536545ENST00000543646HMGA2chr1266232349+GNSchr1265146537-0.0033516550.9966484
ENST00000354636ENST00000418919HMGA2chr1266232349+GNSchr1265146537-0.204997880.7950021
ENST00000354636ENST00000258145HMGA2chr1266232349+GNSchr1265146537-0.0007833930.99921656
ENST00000354636ENST00000543646HMGA2chr1266232349+GNSchr1265146537-0.0033516550.9966484

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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

>36835_36835_1_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000354636_GNS_chr12_65146537_ENST00000258145_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_2_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000354636_GNS_chr12_65146537_ENST00000418919_length(amino acids)=220AA_BP=
LNLGAGTQKTSSPGSARLVQDSGASSPSPSDSPVPPLPAPATLGGAVPPTTLSSACAPCPTLSRRSLPILLCFPTAQGTFNLNLFSLSLS
LSLSLSLSLSLSLAGWGEEEEEFFPRLTFQGTQFTPSLFPFQAASEVLPVPATPDPNPREEPLRPQSLSSFSLASLLLLLPPPPPPPPPP

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

>36835_36835_3_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000354636_GNS_chr12_65146537_ENST00000543646_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_4_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000393577_GNS_chr12_65146537_ENST00000258145_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_5_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000393577_GNS_chr12_65146537_ENST00000418919_length(amino acids)=196AA_BP=176
MDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNVFAPRNKNFNIHGTEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLYGAPD
AGGLEHVPLGWSYWYALYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNETPLK

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

>36835_36835_6_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000393577_GNS_chr12_65146537_ENST00000543646_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_7_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000393578_GNS_chr12_65146537_ENST00000258145_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_8_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000393578_GNS_chr12_65146537_ENST00000418919_length(amino acids)=220AA_BP=
LNLGAGTQKTSSPGSARLVQDSGASSPSPSDSPVPPLPAPATLGGAVPPTTLSSACAPCPTLSRRSLPILLCFPTAQGTFNLNLFSLSLS
LSLSLSLSLSLSLAGWGEEEEEFFPRLTFQGTQFTPSLFPFQAASEVLPVPATPDPNPREEPLRPQSLSSFSLASLLLLLPPPPPPPPPP

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

>36835_36835_9_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000393578_GNS_chr12_65146537_ENST00000543646_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_10_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000403681_GNS_chr12_65146537_ENST00000258145_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_11_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000403681_GNS_chr12_65146537_ENST00000418919_length(amino acids)=292AA_BP=
MPLASSQAPWLGGPPGLPPPHTFLPAQPPPLYPPTIRGGHSPHHHPLPKRKRVHAHTPHTLTLTHTHTHSSHLNLGAGTQKTSSPGSARL
VQDSGASSPSPSDSPVPPLPAPATLGGAVPPTTLSSACAPCPTLSRRSLPILLCFPTAQGTFNLNLFSLSLSLSLSLSLSLSLSLAGWGE
EEEEFFPRLTFQGTQFTPSLFPFQAASEVLPVPATPDPNPREEPLRPQSLSSFSLASLLLLLPPPPPPPPPPAPTHRRRRHRQRLLLSSS

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

>36835_36835_12_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000403681_GNS_chr12_65146537_ENST00000543646_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_13_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000425208_GNS_chr12_65146537_ENST00000258145_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_14_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000425208_GNS_chr12_65146537_ENST00000418919_length(amino acids)=220AA_BP=
LNLGAGTQKTSSPGSARLVQDSGASSPSPSDSPVPPLPAPATLGGAVPPTTLSSACAPCPTLSRRSLPILLCFPTAQGTFNLNLFSLSLS
LSLSLSLSLSLSLAGWGEEEEEFFPRLTFQGTQFTPSLFPFQAASEVLPVPATPDPNPREEPLRPQSLSSFSLASLLLLLPPPPPPPPPP

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

>36835_36835_15_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000425208_GNS_chr12_65146537_ENST00000543646_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_16_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000536545_GNS_chr12_65146537_ENST00000258145_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_17_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000536545_GNS_chr12_65146537_ENST00000418919_length(amino acids)=220AA_BP=
LNLGAGTQKTSSPGSARLVQDSGASSPSPSDSPVPPLPAPATLGGAVPPTTLSSACAPCPTLSRRSLPILLCFPTAQGTFNLNLFSLSLS
LSLSLSLSLSLSLAGWGEEEEEFFPRLTFQGTQFTPSLFPFQAASEVLPVPATPDPNPREEPLRPQSLSSFSLASLLLLLPPPPPPPPPP

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

>36835_36835_18_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000536545_GNS_chr12_65146537_ENST00000543646_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_19_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000541363_GNS_chr12_65146537_ENST00000258145_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

>36835_36835_20_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000541363_GNS_chr12_65146537_ENST00000418919_length(amino acids)=196AA_BP=176
MDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNVFAPRNKNFNIHGTEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLYGAPD
AGGLEHVPLGWSYWYALYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNETPLK

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

>36835_36835_21_HMGA2-GNS_HMGA2_chr12_66232349_ENST00000541363_GNS_chr12_65146537_ENST00000543646_length(amino acids)=571AA_BP=83
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP

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

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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/chr12:66232349/chr12:65146537)
- 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
HMGA2

P52926

GNS

P15586

FUNCTION: Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Plays a role in postnatal myogenesis, is involved in satellite cell activation (By similarity). Positively regulates IGF2 expression through PLAG1 and in a PLAG1-independent manner (PubMed:28796236). {ECO:0000250|UniProtKB:P52927, ECO:0000269|PubMed:14645522, ECO:0000269|PubMed:28796236}.

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
HgeneHMGA2chr12:66232349chr12:65146537ENST00000354636+3424_3483.0107.0DNA bindingNote=A.T hook 1
HgeneHMGA2chr12:66232349chr12:65146537ENST00000354636+3444_5483.0107.0DNA bindingNote=A.T hook 2
HgeneHMGA2chr12:66232349chr12:65146537ENST00000354636+3471_8283.0107.0DNA bindingNote=A.T hook 3
HgeneHMGA2chr12:66232349chr12:65146537ENST00000393578+3424_3483.091.0DNA bindingNote=A.T hook 1
HgeneHMGA2chr12:66232349chr12:65146537ENST00000393578+3444_5483.091.0DNA bindingNote=A.T hook 2
HgeneHMGA2chr12:66232349chr12:65146537ENST00000393578+3471_8283.091.0DNA bindingNote=A.T hook 3
HgeneHMGA2chr12:66232349chr12:65146537ENST00000403681+3524_3483.0110.0DNA bindingNote=A.T hook 1
HgeneHMGA2chr12:66232349chr12:65146537ENST00000403681+3544_5483.0110.0DNA bindingNote=A.T hook 2
HgeneHMGA2chr12:66232349chr12:65146537ENST00000403681+3571_8283.0110.0DNA bindingNote=A.T hook 3
HgeneHMGA2chr12:66232349chr12:65146537ENST00000425208+3424_3483.093.0DNA bindingNote=A.T hook 1
HgeneHMGA2chr12:66232349chr12:65146537ENST00000425208+3444_5483.093.0DNA bindingNote=A.T hook 2
HgeneHMGA2chr12:66232349chr12:65146537ENST00000425208+3471_8283.093.0DNA bindingNote=A.T hook 3

- 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 >>>1223_HMGA2_66232349_GNS_65146537_1223_HMGA2_66232349_GNS_65146537_ranked_0.pdbHMGA26623234966232349ENST00000543646GNSchr1265146537-
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWTPLKKTK
ALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGG
LEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNV
FAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKR
QLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSL
SPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTP
571


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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.
HMGA2_pLDDT.png
all structure
all structure
GNS_pLDDT.png
all structure
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.
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

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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
HMGA2RELA, NFKB1, PIAS3, RB1, PRMT6, NPM1, SMAD1, SMAD5, SMAD9, PRKCA, HDGF, PTBP1, APEX1, SYNCRIP, XRCC6, PSIP1, PA2G4, PCBP2, E4F1, OBSL1, HIST1H3A, CREB1, NFATC1, PCGF1, POU5F1, DLST, EZH2, SUZ12, MYC, TP53, MDM2, CSK, VRK1, HIST1H1B, PRKAG2, DUX4, DUX4L9, SYDE1, ARHGAP21, ARHGAP39, Plekhg5, ZNF263, MAFB, KAT2B, HIST1H2BG, LMNB1, NDUFAF7, CSNK2A1, LIG3, SUPT16H, VRK3, SP2, C1QBP, PARP2, TOP3A, CSNK2A2, XPC, RANBP17, PARP1, SUPV3L1, HIST2H2AC, HIST2H3PS2, KPNA4, USP7,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
HMGA2all structure
GNS


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 HMGA2-GNS


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 HMGA2-GNS


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
HgeneHMGA2C1519176Salivary Gland Pleomorphic Adenoma2ORPHANET
HgeneHMGA2C0005612Birth Weight1CTD_human
HgeneHMGA2C0006826Malignant Neoplasms1CTD_human
HgeneHMGA2C0027626Neoplasm Invasiveness1CTD_human
HgeneHMGA2C0027651Neoplasms1CTD_human
HgeneHMGA2C0086692Benign Neoplasm1CTD_human
HgeneHMGA2C0175693Russell-Silver syndrome1GENOMICS_ENGLAND
HgeneHMGA2C0473935Radiolabeled somatostatin analog study1GENOMICS_ENGLAND
HgeneHMGA2C0796160MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE1GENOMICS_ENGLAND
HgeneHMGA2C1096309Myolipoma1GENOMICS_ENGLAND
HgeneHMGA2C430514012q14 microdeletion syndrome1ORPHANET