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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:HSD11B2-SLC39A1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: HSD11B2-SLC39A1
FusionPDB ID: 37646
FusionGDB2.0 ID: 37646
HgeneTgene
Gene symbol

HSD11B2

SLC39A1

Gene ID

3291

27173

Gene namehydroxysteroid 11-beta dehydrogenase 2solute carrier family 39 member 1
SynonymsAME|AME1|HSD11K|HSD2|SDR9C3ZIP1|ZIRTL
Cytomap

16q22.1

1q21.3

Type of geneprotein-codingprotein-coding
Descriptioncorticosteroid 11-beta-dehydrogenase isozyme 2-HSD11 type II11-DH211-HSD type II11-beta-HSD type II11-beta-HSD211-beta-hydroxysteroid dehydrogenase type 211-beta-hydroxysteroid dehydrogenase type IINAD-dependent 11-beta-hydroxysteroid dehydrogenaszinc transporter ZIP1solute carrier family 39 (zinc transporter), member 1solute carrier family 39 (zinc transporter), member 3zrt- and Irt-like protein 1
Modification date2020031320200313
UniProtAcc

P80365

.
Ensembl transtripts involved in fusion geneENST idsENST00000326152, ENST00000567684, 
ENST00000461071, ENST00000537590, 
ENST00000368623, ENST00000310483, 
ENST00000356205, ENST00000368621, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 3 X 1=64 X 4 X 2=32
# samples 34
** MAII scorelog2(3/6*10)=2.32192809488736log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: HSD11B2 [Title/Abstract] AND SLC39A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)HSD11B2(67465408)-SLC39A1(153935041), # samples:3
Anticipated loss of major functional domain due to fusion event.HSD11B2-SLC39A1 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.
HSD11B2-SLC39A1 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.
HSD11B2-SLC39A1 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.
HSD11B2-SLC39A1 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.
HSD11B2-SLC39A1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
HSD11B2-SLC39A1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
HSD11B2-SLC39A1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
HSD11B2-SLC39A1 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 HSD11B2 (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 SLC39A1 (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
ChiTaRS5.0N/ACB960424HSD11B2chr16

67465408

+SLC39A1chr1

153935041

-
ChiTaRS5.0N/ACB989158HSD11B2chr16

67465408

+SLC39A1chr1

153935041

-
ChiTaRS5.0N/ACD109953HSD11B2chr16

67465408

+SLC39A1chr1

153935041

-


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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)
ENST00000326152HSD11B2chr1667465408+ENST00000356205SLC39A1chr1153935041-1832820664214
ENST00000326152HSD11B2chr1667465408+ENST00000368621SLC39A1chr1153935041-1820820664214
ENST00000326152HSD11B2chr1667465408+ENST00000310483SLC39A1chr1153935041-1819820664214

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
ENST00000326152ENST00000356205HSD11B2chr1667465408+SLC39A1chr1153935041-0.104255860.89574414
ENST00000326152ENST00000368621HSD11B2chr1667465408+SLC39A1chr1153935041-0.106839440.8931606
ENST00000326152ENST00000310483HSD11B2chr1667465408+SLC39A1chr1153935041-0.10268310.8973169

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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

>37646_37646_1_HSD11B2-SLC39A1_HSD11B2_chr16_67465408_ENST00000326152_SLC39A1_chr1_153935041_ENST00000310483_length(amino acids)=214AA_BP=
MQEFILAMGFFLVLVMEQITLAYKEQSGPSPLEETRALLGTVNGGPQHWHDGPGVPQASGAPATPSALRACVLVFSLALHSVFEGLAVGL
QRDRARAMELCLALLLHKGILAVSLSLRLLQSHLRAQVVAGCGILFSCMTPLGIGLGAALAESAGPLHQLAQSVLEGMAAGTFLYITFLE

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

>37646_37646_2_HSD11B2-SLC39A1_HSD11B2_chr16_67465408_ENST00000326152_SLC39A1_chr1_153935041_ENST00000356205_length(amino acids)=214AA_BP=
MQEFILAMGFFLVLVMEQITLAYKEQSGPSPLEETRALLGTVNGGPQHWHDGPGVPQASGAPATPSALRACVLVFSLALHSVFEGLAVGL
QRDRARAMELCLALLLHKGILAVSLSLRLLQSHLRAQVVAGCGILFSCMTPLGIGLGAALAESAGPLHQLAQSVLEGMAAGTFLYITFLE

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

>37646_37646_3_HSD11B2-SLC39A1_HSD11B2_chr16_67465408_ENST00000326152_SLC39A1_chr1_153935041_ENST00000368621_length(amino acids)=214AA_BP=
MQEFILAMGFFLVLVMEQITLAYKEQSGPSPLEETRALLGTVNGGPQHWHDGPGVPQASGAPATPSALRACVLVFSLALHSVFEGLAVGL
QRDRARAMELCLALLLHKGILAVSLSLRLLQSHLRAQVVAGCGILFSCMTPLGIGLGAALAESAGPLHQLAQSVLEGMAAGTFLYITFLE

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

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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/chr16:67465408/chr1:153935041)
- 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
HSD11B2

P80365

.
FUNCTION: Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids. {ECO:0000269|PubMed:7859916}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000031048305190_1910325.0RegionHeavy metals binding
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000035620504190_1910325.0RegionHeavy metals binding
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862104190_1910325.0RegionHeavy metals binding
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862303190_1910325.0RegionHeavy metals binding
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000031048305126_1790325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST00000310483051_300325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000031048305201_2060325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000031048305228_2370325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000031048305259_2720325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000031048305294_3030325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003104830552_680325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003104830590_1040325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000035620504126_1790325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST00000356205041_300325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000035620504201_2060325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000035620504228_2370325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000035620504259_2720325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000035620504294_3030325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003562050452_680325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003562050490_1040325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862104126_1790325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST00000368621041_300325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862104201_2060325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862104228_2370325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862104259_2720325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862104294_3030325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003686210452_680325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003686210490_1040325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862303126_1790325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST00000368623031_300325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862303201_2060325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862303228_2370325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862303259_2720325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862303294_3030325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003686230352_680325.0Topological domainCytoplasmic
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003686230390_1040325.0Topological domainExtracellular
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000031048305105_1250325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000031048305180_2000325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000031048305207_2270325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000031048305238_2580325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000031048305273_2930325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000031048305304_3240325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003104830531_510325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003104830569_890325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000035620504105_1250325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000035620504180_2000325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000035620504207_2270325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000035620504238_2580325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000035620504273_2930325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000035620504304_3240325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003562050431_510325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003562050469_890325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862104105_1250325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862104180_2000325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862104207_2270325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862104238_2580325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862104273_2930325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862104304_3240325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003686210431_510325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003686210469_890325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862303105_1250325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862303180_2000325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862303207_2270325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862303238_2580325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862303273_2930325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST0000036862303304_3240325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003686230331_510325.0TransmembraneHelical
TgeneSLC39A1chr16:67465408chr1:153935041ENST000003686230369_890325.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHSD11B2chr16:67465408chr1:153935041ENST00000326152+1582_1110406.0Nucleotide bindingNAD
HgeneHSD11B2chr16:67465408chr1:153935041ENST00000326152+15335_3390406.0RegionNote=Essential for protein stability


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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 >>>311_HSD11B2_67465408_SLC39A1_153935041_ranked_0.pdbHSD11B26746540867465408ENST00000310483SLC39A1chr1153935041-
MQEFILAMGFFLVLVMEQITLAYKEQSGPSPLEETRALLGTVNGGPQHWHDGPGVPQASGAPATPSALRACVLVFSLALHSVFEGLAVGL
QRDRARAMELCLALLLHKGILAVSLSLRLLQSHLRAQVVAGCGILFSCMTPLGIGLGAALAESAGPLHQLAQSVLEGMAAGTFLYITFLE
214


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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.
HSD11B2_pLDDT.png
all structure
all structure
SLC39A1_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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
HSD11B2
SLC39A1


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 HSD11B2-SLC39A1


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 HSD11B2-SLC39A1


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