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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:ANKS1B-ERP29

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ANKS1B-ERP29
FusionPDB ID: 4806
FusionGDB2.0 ID: 4806
HgeneTgene
Gene symbol

ANKS1B

ERP29

Gene ID

56899

10961

Gene nameankyrin repeat and sterile alpha motif domain containing 1Bendoplasmic reticulum protein 29
SynonymsAIDA|AIDA-1|ANKS2|EB-1|EB1|cajalin-2C12orf8|ERp28|ERp31|HEL-S-107|PDI-DB|PDIA9
Cytomap

12q23.1

12q24.13

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat and sterile alpha motif domain-containing protein 1BE2a-Pbx1-associated proteinamyloid-beta precursor protein intracellular domain associated protein 1cajalin 2endoplasmic reticulum resident protein 29endoplasmic reticulum lumenal protein ERp28endoplasmic reticulum resident protein 28endoplasmic reticulum resident protein 31epididymis secretory protein Li 107protein disulfide isomerase family A, member 9
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.

P30040

Main function of 5'-partner protein: FUNCTION: Does not seem to be a disulfide isomerase. Plays an important role in the processing of secretory proteins within the endoplasmic reticulum (ER), possibly by participating in the folding of proteins in the ER.
Ensembl transtripts involved in fusion geneENST idsENST00000329257, ENST00000332712, 
ENST00000333732, ENST00000341752, 
ENST00000546568, ENST00000546960, 
ENST00000547010, ENST00000547446, 
ENST00000547776, ENST00000549025, 
ENST00000549493, ENST00000549558, 
ENST00000550693, ENST00000550833, 
ENST00000546477, ENST00000455836, 
ENST00000261735, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score19 X 19 X 6=21668 X 8 X 4=256
# samples 218
** MAII scorelog2(21/2166*10)=-3.3665720099422
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
Fusion gene context

PubMed: ANKS1B [Title/Abstract] AND ERP29 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ANKS1B [Title/Abstract] AND ERP29 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ANKS1B(99166820)-ERP29(112457560), # samples:2
Anticipated loss of major functional domain due to fusion event.ANKS1B-ERP29 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.
ANKS1B-ERP29 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.
ANKS1B-ERP29 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.
ANKS1B-ERP29 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.
ANKS1B-ERP29 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ANKS1B-ERP29 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
TgeneERP29

GO:0000187

activation of MAPK activity

22064321

TgeneERP29

GO:0001934

positive regulation of protein phosphorylation

22064321

TgeneERP29

GO:0010628

positive regulation of gene expression

22064321

TgeneERP29

GO:0010629

negative regulation of gene expression

22064321

TgeneERP29

GO:0050709

negative regulation of protein secretion

22064321



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/chr12:99166820/chr12:112457560)
- 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 ANKS1B (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 ERP29 (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)
ENST00000547776ANKS1Bchr1299166820-ENST00000261735ERP29chr12112457560+49453504041451381
ENST00000329257ANKS1Bchr1299166820-ENST00000261735ERP29chr12112457560+49453504041451381
ENST00000547010ANKS1Bchr1299166820-ENST00000261735ERP29chr12112457560+379323521892993934
ENST00000549558ANKS1Bchr1299166820-ENST00000261735ERP29chr12112457560+269712562181897559
ENST00000550693ANKS1Bchr1299166820-ENST00000261735ERP29chr12112457560+276913282181969583
ENST00000549493ANKS1Bchr1299166820-ENST00000261735ERP29chr12112457560+296715262362167643
ENST00000547446ANKS1Bchr1299166820-ENST00000261735ERP29chr12112457560+24671026871667526
ENST00000546568ANKS1Bchr1299166820-ENST00000261735ERP29chr12112457560+2443100201643547
ENST00000332712ANKS1Bchr1299166820-ENST00000261735ERP29chr12112457560+2515107401715571
ENST00000546960ANKS1Bchr1299166820-ENST00000261735ERP29chr12112457560+2623118201823607

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
ENST00000547776ENST00000261735ANKS1Bchr1299166820-ERP29chr12112457560+0.0005575880.9994424
ENST00000329257ENST00000261735ANKS1Bchr1299166820-ERP29chr12112457560+0.0005391280.9994609
ENST00000547010ENST00000261735ANKS1Bchr1299166820-ERP29chr12112457560+0.0004432780.9995567
ENST00000549558ENST00000261735ANKS1Bchr1299166820-ERP29chr12112457560+0.0006468020.99935323
ENST00000550693ENST00000261735ANKS1Bchr1299166820-ERP29chr12112457560+0.000672390.99932766
ENST00000549493ENST00000261735ANKS1Bchr1299166820-ERP29chr12112457560+0.0007985060.9992015
ENST00000547446ENST00000261735ANKS1Bchr1299166820-ERP29chr12112457560+0.0006042650.9993957
ENST00000546568ENST00000261735ANKS1Bchr1299166820-ERP29chr12112457560+0.0006789440.9993211
ENST00000332712ENST00000261735ANKS1Bchr1299166820-ERP29chr12112457560+0.0007055640.9992944
ENST00000546960ENST00000261735ANKS1Bchr1299166820-ERP29chr12112457560+0.0007705380.99922943

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 ANKS1B-ERP29

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ANKS1Bchr1299166820ERP29chr121124575601002334NHHYCHVFTAFDVVIPKSKFVLVKFD
ANKS1Bchr1299166820ERP29chr121124575601026313NHHYCHVFTAFDVVIPKSKFVLVKFD
ANKS1Bchr1299166820ERP29chr121124575601074358NHHYCHVFTAFDVVIPKSKFVLVKFD
ANKS1Bchr1299166820ERP29chr121124575601182394NHHYCHVFTAFDVVIPKSKFVLVKFD
ANKS1Bchr1299166820ERP29chr121124575601256346NHHYCHVFTAFDVVIPKSKFVLVKFD
ANKS1Bchr1299166820ERP29chr121124575601328370NHHYCHVFTAFDVVIPKSKFVLVKFD
ANKS1Bchr1299166820ERP29chr121124575601526430NHHYCHVFTAFDVVIPKSKFVLVKFD
ANKS1Bchr1299166820ERP29chr121124575602352721NHHYCHVFTAFDVVIPKSKFVLVKFD
ANKS1Bchr1299166820ERP29chr1211245756035041168NHHYCHVFTAFDVVIPKSKFVLVKFD

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Potential FusionNeoAntigen Information of ANKS1B-ERP29 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.
ANKS1B-ERP29_99166820_112457560.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)
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A30:08TAFDVVIPK0.95980.5619817
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A02:38VVIPKSKFV0.82710.65021221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A02:21VVIPKSKFV0.81720.68361221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A02:20VVIPKSKFV0.77740.59051221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A02:35VVIPKSKFV0.75260.62791221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A02:13VVIPKSKFV0.73260.63971221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A30:08VVIPKSKFV0.67920.71361221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-B52:01VVIPKSKFV0.50880.85321221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C15:06VVIPKSKFV0.99320.93491221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C15:04VVIPKSKFV0.99020.90711221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C03:07VVIPKSKFV0.98850.98771221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C04:06VVIPKSKFV0.98240.9071221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C06:03VVIPKSKFV0.88570.98431221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C12:04VVIPKSKFV0.88010.98981221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C12:12VVIPKSKFV0.76950.85341221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C02:06VVIPKSKFV0.32890.94031221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C04:10AFDVVIPKSKF10.6911920
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C04:07AFDVVIPKSKF10.7157920
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A25:01DVVIPKSKF0.99770.77671120
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A68:02HVFTAFDVV0.99640.7004514
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C15:02VVIPKSKFV0.99630.90351221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C15:05VVIPKSKFV0.99510.92021221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A69:01HVFTAFDVV0.9940.6576514
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C15:09VVIPKSKFV0.99020.90711221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A30:01TAFDVVIPK0.95090.7296817
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C16:02VVIPKSKFV0.92110.99341221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A02:03VVIPKSKFV0.88490.60321221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C16:04VVIPKSKFV0.82780.94781221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A02:14VVIPKSKFV0.81970.53511221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A02:06VVIPKSKFV0.81720.68361221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C06:02VVIPKSKFV0.78440.98861221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C06:17VVIPKSKFV0.78440.98861221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-A69:01VVIPKSKFV0.77890.82371221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C12:03VVIPKSKFV0.73180.94261221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C06:06VVIPKSKFV0.61510.991221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-B15:13DVVIPKSKF0.43090.60141120
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C06:08VVIPKSKFV0.28750.97681221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C02:10VVIPKSKFV0.17250.96781221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C02:02VVIPKSKFV0.17250.96781221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C07:04VVIPKSKFV0.12790.9361221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C17:01VVIPKSKFV0.03360.87051221
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C01:02VVIPKSKFVL0.89760.94381222
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C18:01AFDVVIPKSKF10.7386920
ANKS1B-ERP29chr1299166820chr121124575603504HLA-C04:01AFDVVIPKSKF10.7157920

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Potential FusionNeoAntigen Information of ANKS1B-ERP29 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.
ANKS1B-ERP29_99166820_112457560.msa

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)
ANKS1B-ERP29chr1299166820chr121124575603504DRB1-1170AFDVVIPKSKFVLVK924
ANKS1B-ERP29chr1299166820chr121124575603504DRB1-1343AFDVVIPKSKFVLVK924

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Fusion breakpoint peptide structures of ANKS1B-ERP29

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
9935VFTAFDVVIPKSKFANKS1BERP29chr1299166820chr121124575603504

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ANKS1B-ERP29

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-B14:023BVN9935VFTAFDVVIPKSKF-7.15543-7.26883
HLA-B14:023BVN9935VFTAFDVVIPKSKF-4.77435-5.80965
HLA-B52:013W399935VFTAFDVVIPKSKF-6.80875-6.92215
HLA-B52:013W399935VFTAFDVVIPKSKF-4.20386-5.23916
HLA-A11:014UQ29935VFTAFDVVIPKSKF-7.5194-8.5547
HLA-A11:014UQ29935VFTAFDVVIPKSKF-6.9601-7.0735
HLA-A24:025HGA9935VFTAFDVVIPKSKF-7.52403-7.63743
HLA-A24:025HGA9935VFTAFDVVIPKSKF-5.82433-6.85963
HLA-B27:056PYJ9935VFTAFDVVIPKSKF-3.28285-4.31815
HLA-B44:053DX89935VFTAFDVVIPKSKF-5.91172-6.94702
HLA-B44:053DX89935VFTAFDVVIPKSKF-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of ANKS1B-ERP29

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
ANKS1B-ERP29chr1299166820chr121124575601120DVVIPKSKFGATGTGGTCATTCCCAAAAGCAAGTTC
ANKS1B-ERP29chr1299166820chr121124575601221VVIPKSKFVGTGGTCATTCCCAAAAGCAAGTTCGTC
ANKS1B-ERP29chr1299166820chr121124575601222VVIPKSKFVLGTGGTCATTCCCAAAAGCAAGTTCGTCTTG
ANKS1B-ERP29chr1299166820chr12112457560514HVFTAFDVVCATGTGTTTACTGCCTTTGATGTGGTC
ANKS1B-ERP29chr1299166820chr12112457560817TAFDVVIPKACTGCCTTTGATGTGGTCATTCCCAAA
ANKS1B-ERP29chr1299166820chr12112457560920AFDVVIPKSKFGCCTTTGATGTGGTCATTCCCAAAAGCAAGTTC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
ANKS1B-ERP29chr1299166820chr12112457560924AFDVVIPKSKFVLVKGCCTTTGATGTGGTCATTCCCAAAAGCAAGTTCGTCTTGGTGAAG

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Information of the samples that have these potential fusion neoantigens of ANKS1B-ERP29

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
SKCMANKS1B-ERP29chr1299166820ENST00000329257chr12112457560ENST00000261735TCGA-D3-A5GL-06A

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Potential target of CAR-T therapy development for ANKS1B-ERP29

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 ANKS1B-ERP29

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 ANKS1B-ERP29

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