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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:ACER3-PC

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ACER3-PC
FusionPDB ID: 1295
FusionGDB2.0 ID: 1295
HgeneTgene
Gene symbol

ACER3

PC

Gene ID

55331

5624

Gene namealkaline ceramidase 3protein C, inactivator of coagulation factors Va and VIIIa
SynonymsAPHC|PHCA|PLDECOAPC|PC|PROC1|THPH3|THPH4
Cytomap

11q13.5

2q14.3

Type of geneprotein-codingprotein-coding
Descriptionalkaline ceramidase 3alkCDase 3alkaline CDase 3alkaline dihydroceramidase SB89alkaline phytoceramidasephytoceramidase, alkalinevitamin K-dependent protein CProtein C-Nagoyaactivated protein Canticoagulant protein Cautoprothrombin IIAblood coagulation factor XIVprepro-protein Ctype I protein C
Modification date2020032020200313
UniProtAcc

Q9NUN7

Main function of 5'-partner protein: FUNCTION: Endoplasmic reticulum and Golgi ceramidase that catalyzes the hydrolysis of unsaturated long-chain C18:1-, C20:1- and C20:4-ceramides, dihydroceramides and phytoceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:20068046, PubMed:26792856, PubMed:20207939, PubMed:11356846, PubMed:30575723). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:20068046). Controls the generation of sphingosine in erythrocytes, and thereby sphingosine-1-phosphate in plasma (PubMed:20207939). Through the regulation of ceramides and sphingosine-1-phosphate homeostasis in the brain may play a role in neurons survival and function (By similarity). By regulating the levels of proinflammatory ceramides in immune cells and tissues, may modulate the inflammatory response (By similarity). {ECO:0000250|UniProtKB:Q9D099, ECO:0000269|PubMed:11356846, ECO:0000269|PubMed:20068046, ECO:0000269|PubMed:20207939, ECO:0000269|PubMed:26792856, ECO:0000269|PubMed:30575723, ECO:0000303|PubMed:20068046}.

Q58A44

Main function of 5'-partner protein: FUNCTION: May be involved in growth and survival of prostate cancer cells through the TAF-Ibeta pathway.
Ensembl transtripts involved in fusion geneENST idsENST00000530182, ENST00000532485, 
ENST00000533873, ENST00000538157, 
ENST00000526597, ENST00000544113, 
ENST00000393958, ENST00000393960, 
ENST00000355677, ENST00000393955, 
ENST00000524491, ENST00000528224, 
ENST00000529047, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 7 X 7=68613 X 8 X 7=728
# samples 1713
** MAII scorelog2(17/686*10)=-2.01267383003511
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/728*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: ACER3 [Title/Abstract] AND PC [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ACER3 [Title/Abstract] AND PC [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ACER3(76670075)-PC(66620854), # samples:2
Anticipated loss of major functional domain due to fusion event.ACER3-PC 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.
ACER3-PC 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.
ACER3-PC 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.
ACER3-PC 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
HgeneACER3

GO:0043067

regulation of programmed cell death

20068046

HgeneACER3

GO:0046512

sphingosine biosynthetic process

20068046

HgeneACER3

GO:0046514

ceramide catabolic process

30575723

HgeneACER3

GO:0071602

phytosphingosine biosynthetic process

11356846|20068046



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/chr11:76670075/chr11:66620854)
- 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 ACER3 (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 PC (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)
ENST00000532485ACER3chr1176670075+ENST00000393958PCchr1166620854-2914371802539819
ENST00000532485ACER3chr1176670075+ENST00000393960PCchr1166620854-2913371802539819
ENST00000533873ACER3chr1176670075+ENST00000393958PCchr1166620854-2734191112359782
ENST00000533873ACER3chr1176670075+ENST00000393960PCchr1166620854-2733191112359782
ENST00000538157ACER3chr1176670075+ENST00000393958PCchr1166620854-28813381912506771
ENST00000538157ACER3chr1176670075+ENST00000393960PCchr1166620854-28803381912506771

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
ENST00000532485ENST00000393958ACER3chr1176670075+PCchr1166620854-0.0015229830.99847704
ENST00000532485ENST00000393960ACER3chr1176670075+PCchr1166620854-0.0015181380.9984819
ENST00000533873ENST00000393958ACER3chr1176670075+PCchr1166620854-0.0040812940.9959187
ENST00000533873ENST00000393960ACER3chr1176670075+PCchr1166620854-0.0040666450.99593335
ENST00000538157ENST00000393958ACER3chr1176670075+PCchr1166620854-0.0048608760.9951391
ENST00000538157ENST00000393960ACER3chr1176670075+PCchr1166620854-0.0048445540.99515545

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 ACER3-PC

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ACER3chr1176670075PCchr116662085419159GSWCFHMTLKYEMQTNIAFLQNVLNN
ACER3chr1176670075PCchr116662085433848GSWCFHMTLKYEMQTNIAFLQNVLNN
ACER3chr1176670075PCchr116662085437196GSWCFHMTLKYEMQTNIAFLQNVLNN

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Potential FusionNeoAntigen Information of ACER3-PC 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.
ACER3-PC_76670075_66620854.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)
ACER3-PCchr1176670075chr1166620854371HLA-B45:01YEMQTNIA0.99540.67281018
ACER3-PCchr1176670075chr1166620854371HLA-B50:01YEMQTNIA0.97020.55841018
ACER3-PCchr1176670075chr1166620854371HLA-B41:01YEMQTNIA0.88970.85271018
ACER3-PCchr1176670075chr1166620854371HLA-B18:01YEMQTNIAF0.99880.66731019
ACER3-PCchr1176670075chr1166620854371HLA-B13:01YEMQTNIAF0.99570.74431019
ACER3-PCchr1176670075chr1166620854371HLA-B44:03YEMQTNIAF0.99070.87881019
ACER3-PCchr1176670075chr1166620854371HLA-B15:02YEMQTNIAF0.8590.81461019
ACER3-PCchr1176670075chr1166620854371HLA-B15:03YEMQTNIAF0.7690.50521019
ACER3-PCchr1176670075chr1166620854371HLA-B45:01YEMQTNIAF0.67210.58551019
ACER3-PCchr1176670075chr1166620854371HLA-B39:13YEMQTNIAF0.650.83061019
ACER3-PCchr1176670075chr1166620854371HLA-B39:01YEMQTNIAF0.64340.80781019
ACER3-PCchr1176670075chr1166620854371HLA-B38:01YEMQTNIAF0.63830.83871019
ACER3-PCchr1176670075chr1166620854371HLA-B38:02YEMQTNIAF0.62110.86231019
ACER3-PCchr1176670075chr1166620854371HLA-B41:01YEMQTNIAF0.33630.8161019
ACER3-PCchr1176670075chr1166620854371HLA-B52:01LKYEMQTNI0.03990.8047817
ACER3-PCchr1176670075chr1166620854371HLA-B44:03KYEMQTNIAF0.88090.894919
ACER3-PCchr1176670075chr1166620854371HLA-B39:13YEMQTNIAFL0.87870.72921020
ACER3-PCchr1176670075chr1166620854371HLA-B40:06YEMQTNIA0.99980.50071018
ACER3-PCchr1176670075chr1166620854371HLA-B15:31YEMQTNIAF0.93730.63561019
ACER3-PCchr1176670075chr1166620854371HLA-B15:05YEMQTNIAF0.92110.61551019
ACER3-PCchr1176670075chr1166620854371HLA-B15:21YEMQTNIAF0.85990.74321019
ACER3-PCchr1176670075chr1166620854371HLA-B39:05YEMQTNIAF0.61050.77111019
ACER3-PCchr1176670075chr1166620854371HLA-B39:08YEMQTNIAF0.60690.67621019
ACER3-PCchr1176670075chr1166620854371HLA-B39:12YEMQTNIAF0.59260.82121019
ACER3-PCchr1176670075chr1166620854371HLA-B39:08YEMQTNIAFL0.86170.65661020
ACER3-PCchr1176670075chr1166620854371HLA-B50:04YEMQTNIA0.97020.55841018
ACER3-PCchr1176670075chr1166620854371HLA-B50:05YEMQTNIA0.97020.55841018
ACER3-PCchr1176670075chr1166620854371HLA-B18:11EMQTNIAF0.80710.71011119
ACER3-PCchr1176670075chr1166620854371HLA-B18:04YEMQTNIAF0.99940.70211019
ACER3-PCchr1176670075chr1166620854371HLA-B18:07YEMQTNIAF0.99930.61281019
ACER3-PCchr1176670075chr1166620854371HLA-B18:05YEMQTNIAF0.99880.66731019
ACER3-PCchr1176670075chr1166620854371HLA-B18:08YEMQTNIAF0.99870.60681019
ACER3-PCchr1176670075chr1166620854371HLA-B18:06YEMQTNIAF0.99850.65951019
ACER3-PCchr1176670075chr1166620854371HLA-B18:03YEMQTNIAF0.9980.65681019
ACER3-PCchr1176670075chr1166620854371HLA-B40:04YEMQTNIAF0.99530.56531019
ACER3-PCchr1176670075chr1166620854371HLA-B18:11YEMQTNIAF0.99130.64651019
ACER3-PCchr1176670075chr1166620854371HLA-B44:13YEMQTNIAF0.99070.87881019
ACER3-PCchr1176670075chr1166620854371HLA-B44:26YEMQTNIAF0.99070.87881019
ACER3-PCchr1176670075chr1166620854371HLA-B44:07YEMQTNIAF0.99070.87881019
ACER3-PCchr1176670075chr1166620854371HLA-B35:24YEMQTNIAF0.95910.67281019
ACER3-PCchr1176670075chr1166620854371HLA-B35:23YEMQTNIAF0.93680.65581019
ACER3-PCchr1176670075chr1166620854371HLA-B35:20YEMQTNIAF0.9240.78891019
ACER3-PCchr1176670075chr1166620854371HLA-B15:20YEMQTNIAF0.92030.73151019
ACER3-PCchr1176670075chr1166620854371HLA-B35:28YEMQTNIAF0.91590.74881019
ACER3-PCchr1176670075chr1166620854371HLA-B15:53YEMQTNIAF0.90820.69931019
ACER3-PCchr1176670075chr1166620854371HLA-B15:12YEMQTNIAF0.85960.75871019
ACER3-PCchr1176670075chr1166620854371HLA-B48:02YEMQTNIAF0.76390.70891019
ACER3-PCchr1176670075chr1166620854371HLA-B15:54YEMQTNIAF0.74650.65421019
ACER3-PCchr1176670075chr1166620854371HLA-B39:02YEMQTNIAF0.69180.84111019
ACER3-PCchr1176670075chr1166620854371HLA-B15:13YEMQTNIAF0.67480.54131019
ACER3-PCchr1176670075chr1166620854371HLA-B39:31YEMQTNIAF0.66520.80481019
ACER3-PCchr1176670075chr1166620854371HLA-B38:05YEMQTNIAF0.63830.83871019
ACER3-PCchr1176670075chr1166620854371HLA-B39:11YEMQTNIAF0.57470.62891019
ACER3-PCchr1176670075chr1166620854371HLA-C14:03KYEMQTNIAF0.95760.9387919
ACER3-PCchr1176670075chr1166620854371HLA-C14:02KYEMQTNIAF0.95760.9387919
ACER3-PCchr1176670075chr1166620854371HLA-B48:02KYEMQTNIAF0.91630.8309919
ACER3-PCchr1176670075chr1166620854371HLA-B44:07KYEMQTNIAF0.88090.894919
ACER3-PCchr1176670075chr1166620854371HLA-B44:26KYEMQTNIAF0.88090.894919
ACER3-PCchr1176670075chr1166620854371HLA-B44:13KYEMQTNIAF0.88090.894919
ACER3-PCchr1176670075chr1166620854371HLA-B39:02YEMQTNIAFL0.87850.74331020
ACER3-PCchr1176670075chr1166620854371HLA-B40:04KYEMQTNIAF0.8720.6092919
ACER3-PCchr1176670075chr1166620854371HLA-B15:53KYEMQTNIAF0.85690.8108919
ACER3-PCchr1176670075chr1166620854371HLA-B18:11KYEMQTNIAF0.82060.8746919
ACER3-PCchr1176670075chr1166620854371HLA-B41:03KYEMQTNIAF0.68070.5501919

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Potential FusionNeoAntigen Information of ACER3-PC 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.
ACER3-PC_76670075_66620854.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)
ACER3-PCchr1176670075chr1166620854371DRB1-1002EMQTNIAFLQNVLNN1126
ACER3-PCchr1176670075chr1166620854371DRB1-1222TLKYEMQTNIAFLQN722

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Fusion breakpoint peptide structures of ACER3-PC

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
6036MTLKYEMQTNIAFLACER3PCchr1176670075chr1166620854371

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ACER3-PC

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-B14:023BVN6036MTLKYEMQTNIAFL-7.9962-8.1096
HLA-B14:023BVN6036MTLKYEMQTNIAFL-5.70842-6.74372
HLA-B52:013W396036MTLKYEMQTNIAFL-6.83737-6.95077
HLA-B52:013W396036MTLKYEMQTNIAFL-4.4836-5.5189
HLA-A11:014UQ26036MTLKYEMQTNIAFL-10.0067-10.1201
HLA-A11:014UQ26036MTLKYEMQTNIAFL-9.03915-10.0745
HLA-A24:025HGA6036MTLKYEMQTNIAFL-6.56204-6.67544
HLA-A24:025HGA6036MTLKYEMQTNIAFL-5.42271-6.45801
HLA-B44:053DX86036MTLKYEMQTNIAFL-7.85648-8.89178
HLA-B44:053DX86036MTLKYEMQTNIAFL-5.3978-5.5112
HLA-A02:016TDR6036MTLKYEMQTNIAFL-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of ACER3-PC

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
ACER3-PCchr1176670075chr11666208541018YEMQTNIAGAAATGCAGACCAACATCGCCTTC
ACER3-PCchr1176670075chr11666208541019YEMQTNIAFGAAATGCAGACCAACATCGCCTTCCTG
ACER3-PCchr1176670075chr11666208541020YEMQTNIAFLGAAATGCAGACCAACATCGCCTTCCTGCAG
ACER3-PCchr1176670075chr11666208541119EMQTNIAFATGCAGACCAACATCGCCTTCCTG
ACER3-PCchr1176670075chr1166620854817LKYEMQTNIAAATATGAAATGCAGACCAACATCGCC
ACER3-PCchr1176670075chr1166620854919KYEMQTNIAFTATGAAATGCAGACCAACATCGCCTTCCTG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
ACER3-PCchr1176670075chr11666208541126EMQTNIAFLQNVLNNATGCAGACCAACATCGCCTTCCTGCAGAATGTGCTCAACAACCAG
ACER3-PCchr1176670075chr1166620854722TLKYEMQTNIAFLQNCTGAAATATGAAATGCAGACCAACATCGCCTTCCTGCAGAATGTG

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Information of the samples that have these potential fusion neoantigens of ACER3-PC

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
BRCAACER3-PCchr1176670075ENST00000532485chr1166620854ENST00000393958TCGA-BH-A1EN-01A

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Potential target of CAR-T therapy development for ACER3-PC

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
HgeneACER3chr11:76670075chr11:66620854ENST00000532485+31134_5589268.0TransmembraneHelical
HgeneACER3chr11:76670075chr11:66620854ENST00000532485+31162_8289268.0TransmembraneHelical

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 ACER3-PC

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 ACER3-PC

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