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Center for Computational Systems Medicine
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Fusion Gene and Fusion Protein Summary

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Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

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Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

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Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

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Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

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Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

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Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

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Potential target of CAR-T therapy development

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Information on the samples that have these potential fusion neoantigens

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Fusion Protein Targeting Drugs - (Manual Curation)

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Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:STAG1-ANKS1B

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: STAG1-ANKS1B
FusionPDB ID: 87072
FusionGDB2.0 ID: 87072
HgeneTgene
Gene symbol

STAG1

ANKS1B

Gene ID

56937

56899

Gene nameprostate transmembrane protein, androgen induced 1ankyrin repeat and sterile alpha motif domain containing 1B
SynonymsSTAG1|TMEPAIAIDA|AIDA-1|ANKS2|EB-1|EB1|cajalin-2
Cytomap

20q13.31

12q23.1

Type of geneprotein-codingprotein-coding
Descriptionprotein TMEPAIsolid tumor-associated 1 proteintransmembrane, prostate androgen induced RNAankyrin repeat and sterile alpha motif domain-containing protein 1BE2a-Pbx1-associated proteinamyloid-beta precursor protein intracellular domain associated protein 1cajalin 2
Modification date2020031320200313
UniProtAcc.

Q7Z6G8

Main function of 5'-partner protein: FUNCTION: Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.; FUNCTION: Isoform 3 can regulate global protein synthesis by altering nucleolar numbers. {ECO:0000250, ECO:0000269|PubMed:15347684, ECO:0000269|PubMed:15862129}.; FUNCTION: Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing.
Ensembl transtripts involved in fusion geneENST idsENST00000236698, ENST00000383202, 
ENST00000434713, ENST00000480733, 
ENST00000536929, 
ENST00000547446, 
ENST00000549025, ENST00000549493, 
ENST00000332712, ENST00000333732, 
ENST00000341752, ENST00000546568, 
ENST00000546960, ENST00000549558, 
ENST00000550693, ENST00000550833, 
ENST00000329257, ENST00000547010, 
ENST00000547776, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score23 X 21 X 12=579627 X 22 X 9=5346
# samples 3328
** MAII scorelog2(33/5796*10)=-4.13451966531111
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(28/5346*10)=-4.25496110529811
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: STAG1 [Title/Abstract] AND ANKS1B [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: STAG1 [Title/Abstract] AND ANKS1B [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)STAG1(136183723)-ANKS1B(99548173), # samples:2
Anticipated loss of major functional domain due to fusion event.STAG1-ANKS1B 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.
STAG1-ANKS1B 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.
STAG1-ANKS1B 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.
STAG1-ANKS1B 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.
STAG1-ANKS1B seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
STAG1-ANKS1B seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
STAG1-ANKS1B seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneSTAG1

GO:0010991

negative regulation of SMAD protein complex assembly

20129061

HgeneSTAG1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

24627487

HgeneSTAG1

GO:0060394

negative regulation of pathway-restricted SMAD protein phosphorylation

24627487



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/chr3:136183723/chr12:99548173)
- 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 buttonRetention analysis results 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, are available here.

check buttonFusion gene breakpoints across STAG1 (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 ANKS1B (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 Amino Acid Sequences


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)
ENST00000383202STAG1chr3136183723-ENST00000547776ANKS1Bchr1299548173-3036157014612897478
ENST00000383202STAG1chr3136183723-ENST00000329257ANKS1Bchr1299548173-2898157014612897478
ENST00000383202STAG1chr3136183723-ENST00000547010ANKS1Bchr1299548173-271815702181651477
ENST00000236698STAG1chr3136183723-ENST00000547776ANKS1Bchr1299548173-3046158014712907478
ENST00000236698STAG1chr3136183723-ENST00000329257ANKS1Bchr1299548173-2908158014712907479
ENST00000236698STAG1chr3136183723-ENST00000547010ANKS1Bchr1299548173-272815802281661477

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
ENST00000383202ENST00000547776STAG1chr3136183723-ANKS1Bchr1299548173-0.0015867340.9984132
ENST00000383202ENST00000329257STAG1chr3136183723-ANKS1Bchr1299548173-0.0016975560.99830246
ENST00000383202ENST00000547010STAG1chr3136183723-ANKS1Bchr1299548173-0.0007997370.9992003
ENST00000236698ENST00000547776STAG1chr3136183723-ANKS1Bchr1299548173-0.0015263340.9984737
ENST00000236698ENST00000329257STAG1chr3136183723-ANKS1Bchr1299548173-0.0016268180.99837315
ENST00000236698ENST00000547010STAG1chr3136183723-ANKS1Bchr1299548173-0.0007710450.99922895

check button Predicted full-length fusion amino acid sequences. For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among all the predicted ones.

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

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Fusion Protein Breakpoint Sequences for STAG1-ANKS1B

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
STAG1chr3136183723ANKS1Bchr1299548173157037LLLWQLESSFTKRPRCPVQTVGQWLE
STAG1chr3136183723ANKS1Bchr12995481731570451PVAVAAGEFLHKKTQMPCPNSGTMVG
STAG1chr3136183723ANKS1Bchr1299548173158037LLLWQLESSFTKRPRCPVQTVGQWLE
STAG1chr3136183723ANKS1Bchr12995481731580451PVAVAAGEFLHKKTQMPCPNSGTMVG

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Potential FusionNeoAntigen Information of STAG1-ANKS1B in HLA I

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
STAG1-ANKS1B_136183723_99548173.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)
Fusion geneHchrHbpTgeneTchrTbpHLA IFusionNeoAntigen peptideBinding scoreImmunogenic scoreNeoantigen start (at BP 13)Neoantigen end (at BP 13)
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B08:09FLHKKTQM0.99880.6291816
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B07:10RPRCPVQTV0.99960.57481221
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B07:02RPRCPVQTV0.99960.54941221
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B45:01LESSFTKRP0.98660.7823514
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B08:01EFLHKKTQM0.97060.7723716
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B08:09FLHKKTQMP0.9690.7437817
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B39:06LHKKTQMPC0.84590.759918
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B08:09RPRCPVQTV0.78020.57231221
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B41:01LESSFTKRP0.37860.7769514
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B50:01LESSFTKRP0.18380.5799514
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B47:01GEFLHKKTQM0.92730.7061616
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B07:05KRPRCPVQTV0.47010.50881121
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B07:02KRPRCPVQTV0.40640.57131121
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B07:12RPRCPVQTV0.99890.61251221
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B54:01RPRCPVQTV0.88530.58251221
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B51:07RPRCPVQTV0.61920.72331221
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B39:10RPRCPVQTV0.26620.73261221
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B40:03GEFLHKKTQM0.98050.5047616
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B44:09GEFLHKKTQM0.95640.6117616
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B07:04KRPRCPVQTV0.6640.51291121
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-C03:67FLHKKTQM0.91680.9887816
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B08:12FLHKKTQM0.81850.6336816
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B07:22RPRCPVQTV0.99960.54941221
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B07:09RPRCPVQTV0.99950.54981221
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B08:18EFLHKKTQM0.97060.7723716
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B08:12EFLHKKTQM0.77990.9034716
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B78:02RPRCPVQTV0.67750.58781221
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B67:01RPRCPVQTV0.35480.71851221
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B50:05LESSFTKRP0.18380.5799514
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B50:04LESSFTKRP0.18380.5799514
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-C14:02EFLHKKTQM0.10090.9615716
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-C14:03EFLHKKTQM0.10090.9615716
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B40:04GEFLHKKTQM0.9760.758616
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B41:03GEFLHKKTQM0.56050.7092616
STAG1-ANKS1Bchr3136183723chr12995481731580HLA-B07:22KRPRCPVQTV0.40640.57131121

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Potential FusionNeoAntigen Information of STAG1-ANKS1B in HLA II

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.

check button Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).
Fusion geneHchrHbpTgeneTchrTbpHLA IIFusionNeoAntigen peptideNeoantigen start (at BP 13)Neoantigen end (at BP 13)

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Fusion breakpoint peptide structures of STAG1-ANKS1B

check button3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
2147ESSFTKRPRCPVQTSTAG1ANKS1Bchr3136183723chr12995481731580
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
2744GEFLHKKTQMPCPNSTAG1ANKS1Bchr3136183723chr12995481731580

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of STAG1-ANKS1B

check buttonVirtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.
HLA allelePDB IDFile nameBPseqDocking scoreGlide score
HLA-B14:023BVN2147ESSFTKRPRCPVQT-7.15543-7.26883
HLA-B14:023BVN2147ESSFTKRPRCPVQT-4.77435-5.80965
HLA-B52:013W392147ESSFTKRPRCPVQT-6.80875-6.92215
HLA-B52:013W392147ESSFTKRPRCPVQT-4.20386-5.23916
HLA-A11:014UQ22147ESSFTKRPRCPVQT-7.5194-8.5547
HLA-A11:014UQ22147ESSFTKRPRCPVQT-6.9601-7.0735
HLA-A24:025HGA2147ESSFTKRPRCPVQT-7.52403-7.63743
HLA-A24:025HGA2147ESSFTKRPRCPVQT-5.82433-6.85963
HLA-B27:056PYJ2147ESSFTKRPRCPVQT-3.28285-4.31815
HLA-B44:053DX82147ESSFTKRPRCPVQT-5.91172-6.94702
HLA-B44:053DX82147ESSFTKRPRCPVQT-4.24346-4.35686
HLA-B14:023BVN2744GEFLHKKTQMPCPN-7.10743-7.22083
HLA-B14:023BVN2744GEFLHKKTQMPCPN-3.79488-4.83018
HLA-B52:013W392744GEFLHKKTQMPCPN-6.78681-6.90021
HLA-B52:013W392744GEFLHKKTQMPCPN-3.75119-4.78649
HLA-A11:014UQ22744GEFLHKKTQMPCPN-10.1888-11.2241
HLA-A11:014UQ22744GEFLHKKTQMPCPN-6.59241-6.70581
HLA-A24:025HGA2744GEFLHKKTQMPCPN-8.29771-9.33301
HLA-A24:025HGA2744GEFLHKKTQMPCPN-8.23185-8.34525
HLA-B44:053DX82744GEFLHKKTQMPCPN-7.25218-7.36558
HLA-B44:053DX82744GEFLHKKTQMPCPN-3.76181-4.79711
HLA-A02:016TDR2744GEFLHKKTQMPCPN-2.73959-3.77489

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Vaccine Design for the FusionNeoAntigens of STAG1-ANKS1B

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptide sequenceFusionNeoAntigen RNA sequence
STAG1-ANKS1Bchr3136183723chr12995481731121KRPRCPVQTVCAAAAAGACCCAGATGCCCTGTCCAAACAG
STAG1-ANKS1Bchr3136183723chr12995481731221RPRCPVQTVAAAGACCCAGATGCCCTGTCCAAACAG
STAG1-ANKS1Bchr3136183723chr1299548173514LESSFTKRPAGCTGGAGAGTTCCTTCACAAAAAGAC
STAG1-ANKS1Bchr3136183723chr1299548173616GEFLHKKTQMTGGAGAGTTCCTTCACAAAAAGACCCAGAT
STAG1-ANKS1Bchr3136183723chr1299548173716EFLHKKTQMAGAGTTCCTTCACAAAAAGACCCAGAT
STAG1-ANKS1Bchr3136183723chr1299548173816FLHKKTQMGTTCCTTCACAAAAAGACCCAGAT
STAG1-ANKS1Bchr3136183723chr1299548173817FLHKKTQMPGTTCCTTCACAAAAAGACCCAGATGCC
STAG1-ANKS1Bchr3136183723chr1299548173918LHKKTQMPCCCTTCACAAAAAGACCCAGATGCCCTG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence

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Information of the samples that have these potential fusion neoantigens of STAG1-ANKS1B

check button These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.
Cancer typeFusion geneHchrHbpHenstTchrTbpTenstSample
SARCSTAG1-ANKS1Bchr3136183723ENST00000236698chr1299548173ENST00000329257TCGA-DX-A23Y-01A
SARCSTAG1-ANKS1Bchr3136183723ENST00000236698chr1299548173ENST00000547010TCGA-DX-A23Y-01A

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Potential target of CAR-T therapy development for STAG1-ANKS1B

check button Predicted 3D structure. We used RoseTTAFold.

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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features


* Minus value of BPloci means that the break point is located before the CDS.
- In-frame and retained 'Transmembrane'.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

check button Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.
HgeneHchrHbpHenstTgeneTchrTbpTenstDeepLoc result

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Related Drugs to STAG1-ANKS1B

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 STAG1-ANKS1B

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