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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:BRWD1-SMC1A

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BRWD1-SMC1A
FusionPDB ID: 10359
FusionGDB2.0 ID: 10359
HgeneTgene
Gene symbol

BRWD1

SMC1A

Gene ID

54014

8243

Gene namebromodomain and WD repeat domain containing 1structural maintenance of chromosomes 1A
SynonymsC21orf107|DCAF19|N143|WDR9|WRD9CDLS2|DXS423E|SB1.8|SMC1|SMC1L1|SMC1alpha|SMCB
Cytomap

21q22.2

Xp11.22

Type of geneprotein-codingprotein-coding
Descriptionbromodomain and WD repeat-containing protein 1WD repeat protein WDR9-form2WD repeat-containing protein 9transcriptional unit N143structural maintenance of chromosomes protein 1ASMC protein 1ASMC-1-alphaSMC1 (structural maintenance of chromosomes 1, yeast)-like 1epididymis secretory sperm binding proteinsegregation of mitotic chromosomes 1
Modification date2020031320200329
UniProtAcc

Q9NSI6

Main function of 5'-partner protein: FUNCTION: May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000250, ECO:0000269|PubMed:21834987}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000333229, ENST00000380800, 
ENST00000341322, ENST00000342449, 
ENST00000470108, 
ENST00000375340, 
ENST00000469129, ENST00000322213, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score28 X 28 X 10=78407 X 6 X 4=168
# samples 327
** MAII scorelog2(32/7840*10)=-4.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: BRWD1 [Title/Abstract] AND SMC1A [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: BRWD1 [Title/Abstract] AND SMC1A [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BRWD1(40568424)-SMC1A(53442118), # samples:3
Anticipated loss of major functional domain due to fusion event.BRWD1-SMC1A 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.
BRWD1-SMC1A 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.
BRWD1-SMC1A 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.
BRWD1-SMC1A 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
TgeneSMC1A

GO:0072423

response to DNA damage checkpoint signaling

11877377



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/chr21:40568424/chrX:53442118)
- 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 BRWD1 (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 SMC1A (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)
ENST00000333229BRWD1chr2140568424-ENST00000322213SMC1AchrX53442118-164466899235104913418
ENST00000380800BRWD1chr2140568424-ENST00000322213SMC1AchrX53442118-1621766706102623418

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
ENST00000333229ENST00000322213BRWD1chr2140568424-SMC1AchrX53442118-0.0007016180.99929833
ENST00000380800ENST00000322213BRWD1chr2140568424-SMC1AchrX53442118-0.0005430620.99945694

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 BRWD1-SMC1A

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
BRWD1chr2140568424SMC1AchrX5344211866702221RRKTKGKAKVVRKGKSNLMDAISFVL
BRWD1chr2140568424SMC1AchrX5344211868992221RRKTKGKAKVVRKGKSNLMDAISFVL

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Potential FusionNeoAntigen Information of BRWD1-SMC1A 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.
BRWD1-SMC1A_40568424_53442118.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)
BRWD1-SMC1Achr2140568424chrX534421186899HLA-B07:02VVRKGKSNL0.99140.7724918
BRWD1-SMC1Achr2140568424chrX534421186899HLA-B07:05VVRKGKSNL0.9910.6498918
BRWD1-SMC1Achr2140568424chrX534421186899HLA-A30:08KAKVVRKGK0.98350.7905615
BRWD1-SMC1Achr2140568424chrX534421186899HLA-B27:04VRKGKSNLM0.9830.90831019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-B14:02VRKGKSNLM0.83490.79871019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-B14:01VRKGKSNLM0.83490.79871019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-A30:08VVRKGKSNL0.68530.8914918
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C07:95VRKGKSNLM0.9550.82961019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C07:05VRKGKSNLM0.92770.98211019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C07:27VRKGKSNLM0.92120.98211019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C07:29VRKGKSNLM0.84060.97321019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C07:19VRKGKSNLM0.78250.86011019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C07:80VRKGKSNLM0.74430.97881019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C07:67VRKGKSNLM0.74430.97881019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C07:10VRKGKSNLM0.73890.97981019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-B07:04VVRKGKSNL0.72680.7574918
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C07:46VRKGKSNLM0.68660.95131019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-B39:12VRKGKSNLM0.27610.97631019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-B14:03VRKGKSNLM0.19690.93221019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C12:16VRKGKSNLM0.02130.98671019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-B07:22VVRKGKSNL0.99140.7724918
BRWD1-SMC1Achr2140568424chrX534421186899HLA-B27:06VRKGKSNLM0.98880.9011019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-A30:01KAKVVRKGK0.98490.8803615
BRWD1-SMC1Achr2140568424chrX534421186899HLA-B27:10VRKGKSNLM0.98250.9541019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C07:01VRKGKSNLM0.94950.75811019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C07:02VRKGKSNLM0.74430.97881019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-A30:01VVRKGKSNL0.70350.9675918
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C07:22VRKGKSNLM0.67050.87221019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C06:08VRKGKSNLM0.59360.99451019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-B07:26VVRKGKSNL0.3110.6862918
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C06:06VRKGKSNLM0.18650.99681019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C06:02VRKGKSNLM0.02310.99731019
BRWD1-SMC1Achr2140568424chrX534421186899HLA-C06:17VRKGKSNLM0.02310.99731019

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Potential FusionNeoAntigen Information of BRWD1-SMC1A 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.
BRWD1-SMC1A_40568424_53442118.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)
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1102KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1103KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1116KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1121KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1136KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1141KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1148KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1155KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1155GKAKVVRKGKSNLMD520
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1163KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1165KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1170KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1176KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1185KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1301KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1308KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1315KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1319KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1320KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1322KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1324KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1335KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1343KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1343GKAKVVRKGKSNLMD520
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1351KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1352KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1353KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1354KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1354GKAKVVRKGKSNLMD520
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1357KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1359KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1361KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1364KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1368KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1369KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1370KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1372KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1375KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1376KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1376GKAKVVRKGKSNLMD520
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1378KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1379KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1380KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1383KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1384KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1387KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1391KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1392KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1398KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1416KAKVVRKGKSNLMDA621
BRWD1-SMC1Achr2140568424chrX534421186899DRB1-1416GKAKVVRKGKSNLMD520

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Fusion breakpoint peptide structures of BRWD1-SMC1A

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
4106KAKVVRKGKSNLMDBRWD1SMC1Achr2140568424chrX534421186899

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of BRWD1-SMC1A

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-B14:023BVN4106KAKVVRKGKSNLMD-7.9962-8.1096
HLA-B14:023BVN4106KAKVVRKGKSNLMD-5.70842-6.74372
HLA-B52:013W394106KAKVVRKGKSNLMD-6.83737-6.95077
HLA-B52:013W394106KAKVVRKGKSNLMD-4.4836-5.5189
HLA-A11:014UQ24106KAKVVRKGKSNLMD-10.0067-10.1201
HLA-A11:014UQ24106KAKVVRKGKSNLMD-9.03915-10.0745
HLA-A24:025HGA4106KAKVVRKGKSNLMD-6.56204-6.67544
HLA-A24:025HGA4106KAKVVRKGKSNLMD-5.42271-6.45801
HLA-B44:053DX84106KAKVVRKGKSNLMD-7.85648-8.89178
HLA-B44:053DX84106KAKVVRKGKSNLMD-5.3978-5.5112
HLA-A02:016TDR4106KAKVVRKGKSNLMD-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of BRWD1-SMC1A

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
BRWD1-SMC1Achr2140568424chrX534421181019VRKGKSNLMTTAGAAAAGGTAAGTCAAATCTCATGG
BRWD1-SMC1Achr2140568424chrX53442118615KAKVVRKGKAAGCAAAAGTAGTTAGAAAAGGTAAGT
BRWD1-SMC1Achr2140568424chrX53442118918VVRKGKSNLTAGTTAGAAAAGGTAAGTCAAATCTCA

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
BRWD1-SMC1Achr2140568424chrX53442118520GKAKVVRKGKSNLMDGAAAAGCAAAAGTAGTTAGAAAAGGTAAGTCAAATCTCATGGATG
BRWD1-SMC1Achr2140568424chrX53442118621KAKVVRKGKSNLMDAAAGCAAAAGTAGTTAGAAAAGGTAAGTCAAATCTCATGGATGCCA

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Information of the samples that have these potential fusion neoantigens of BRWD1-SMC1A

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
LUADBRWD1-SMC1Achr2140568424ENST00000333229chrX53442118ENST00000322213TCGA-55-6987-01A

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Potential target of CAR-T therapy development for BRWD1-SMC1A

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 BRWD1-SMC1A

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 BRWD1-SMC1A

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