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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:CC2D1A-ZMYND8

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CC2D1A-ZMYND8
FusionPDB ID: 13504
FusionGDB2.0 ID: 13504
HgeneTgene
Gene symbol

CC2D1A

ZMYND8

Gene ID

54862

23613

Gene namecoiled-coil and C2 domain containing 1Azinc finger MYND-type containing 8
SynonymsFREUD-1|Freud-1/Aki1|MRT3PRKCBP1|PRO2893|RACK7
Cytomap

19p13.12

20q13.12

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil and C2 domain-containing protein 1AAkt kinase-interacting protein 1FRE under dual repression-binding protein 1five prime repressor element under dual repression-binding protein 1five repressor element under dual repression-binding protein protein kinase C-binding protein 1CTCL tumor antigen se14-3cutaneous T-cell lymphoma-associated antigen se14-3predicted protein of HQ2893zinc finger MYND domain-containing protein 8
Modification date2020031320200313
UniProtAcc

Q6P1N0

Main function of 5'-partner protein: FUNCTION: Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis. {ECO:0000250, ECO:0000269|PubMed:20171170}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000318003, ENST00000589606, 
ENST00000468376, ENST00000262975, 
ENST00000311275, ENST00000352431, 
ENST00000355972, ENST00000360911, 
ENST00000372023, ENST00000396281, 
ENST00000446994, ENST00000458360, 
ENST00000461685, ENST00000471951, 
ENST00000536340, ENST00000540497, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score10 X 10 X 7=70010 X 12 X 6=720
# samples 1213
** MAII scorelog2(12/700*10)=-2.54432051622381
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/720*10)=-2.46948528330122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: CC2D1A [Title/Abstract] AND ZMYND8 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: CC2D1A [Title/Abstract] AND ZMYND8 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CC2D1A(14030015)-ZMYND8(45938948), # samples:3
Anticipated loss of major functional domain due to fusion event.CC2D1A-ZMYND8 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.
CC2D1A-ZMYND8 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.
CC2D1A-ZMYND8 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.
CC2D1A-ZMYND8 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


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/chr19:14030015/chr20:45938948)
- 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 CC2D1A (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 ZMYND8 (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)
ENST00000318003CC2D1Achr1914030015+ENST00000311275ZMYND8chr2045938948-6546146323549981587
ENST00000318003CC2D1Achr1914030015+ENST00000360911ZMYND8chr2045938948-6333146323547851516
ENST00000318003CC2D1Achr1914030015+ENST00000458360ZMYND8chr2045938948-5057146323545421435
ENST00000318003CC2D1Achr1914030015+ENST00000262975ZMYND8chr2045938948-5293146323549441569
ENST00000318003CC2D1Achr1914030015+ENST00000471951ZMYND8chr2045938948-5404146323550821615
ENST00000318003CC2D1Achr1914030015+ENST00000352431ZMYND8chr2045938948-5181146323548601541
ENST00000318003CC2D1Achr1914030015+ENST00000396281ZMYND8chr2045938948-5225146323549231562
ENST00000318003CC2D1Achr1914030015+ENST00000446994ZMYND8chr2045938948-4812146323547551506
ENST00000318003CC2D1Achr1914030015+ENST00000536340ZMYND8chr2045938948-5139146323550821615
ENST00000318003CC2D1Achr1914030015+ENST00000355972ZMYND8chr2045938948-5139146323550821615
ENST00000318003CC2D1Achr1914030015+ENST00000540497ZMYND8chr2045938948-4783146323547821516
ENST00000318003CC2D1Achr1914030015+ENST00000461685ZMYND8chr2045938948-4945146323549441570
ENST00000318003CC2D1Achr1914030015+ENST00000372023ZMYND8chr2045938948-4789146323547881518
ENST00000589606CC2D1Achr1914030015+ENST00000311275ZMYND8chr2045938948-63051222047571585
ENST00000589606CC2D1Achr1914030015+ENST00000360911ZMYND8chr2045938948-60921222045441514
ENST00000589606CC2D1Achr1914030015+ENST00000458360ZMYND8chr2045938948-48161222043011433
ENST00000589606CC2D1Achr1914030015+ENST00000262975ZMYND8chr2045938948-50521222047031567
ENST00000589606CC2D1Achr1914030015+ENST00000471951ZMYND8chr2045938948-51631222048411613
ENST00000589606CC2D1Achr1914030015+ENST00000352431ZMYND8chr2045938948-49401222046191539
ENST00000589606CC2D1Achr1914030015+ENST00000396281ZMYND8chr2045938948-49841222046821560
ENST00000589606CC2D1Achr1914030015+ENST00000446994ZMYND8chr2045938948-45711222045141504
ENST00000589606CC2D1Achr1914030015+ENST00000536340ZMYND8chr2045938948-48981222048411613
ENST00000589606CC2D1Achr1914030015+ENST00000355972ZMYND8chr2045938948-48981222048411613
ENST00000589606CC2D1Achr1914030015+ENST00000540497ZMYND8chr2045938948-45421222045411513
ENST00000589606CC2D1Achr1914030015+ENST00000461685ZMYND8chr2045938948-47041222047031567
ENST00000589606CC2D1Achr1914030015+ENST00000372023ZMYND8chr2045938948-45481222045471515

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
ENST00000318003ENST00000311275CC2D1Achr1914030015+ZMYND8chr2045938948-0.0021730520.9978269
ENST00000318003ENST00000360911CC2D1Achr1914030015+ZMYND8chr2045938948-0.0015202920.99847966
ENST00000318003ENST00000458360CC2D1Achr1914030015+ZMYND8chr2045938948-0.0038311650.9961688
ENST00000318003ENST00000262975CC2D1Achr1914030015+ZMYND8chr2045938948-0.0046511770.9953489
ENST00000318003ENST00000471951CC2D1Achr1914030015+ZMYND8chr2045938948-0.0051399580.99486005
ENST00000318003ENST00000352431CC2D1Achr1914030015+ZMYND8chr2045938948-0.0036564070.99634355
ENST00000318003ENST00000396281CC2D1Achr1914030015+ZMYND8chr2045938948-0.0054301880.99456984
ENST00000318003ENST00000446994CC2D1Achr1914030015+ZMYND8chr2045938948-0.006695460.99330455
ENST00000318003ENST00000536340CC2D1Achr1914030015+ZMYND8chr2045938948-0.0067753520.9932247
ENST00000318003ENST00000355972CC2D1Achr1914030015+ZMYND8chr2045938948-0.0067753520.9932247
ENST00000318003ENST00000540497CC2D1Achr1914030015+ZMYND8chr2045938948-0.0071418560.9928582
ENST00000318003ENST00000461685CC2D1Achr1914030015+ZMYND8chr2045938948-0.0070336490.9929664
ENST00000318003ENST00000372023CC2D1Achr1914030015+ZMYND8chr2045938948-0.0038219330.99617803
ENST00000589606ENST00000311275CC2D1Achr1914030015+ZMYND8chr2045938948-0.0016097560.9983903
ENST00000589606ENST00000360911CC2D1Achr1914030015+ZMYND8chr2045938948-0.0010660620.998934
ENST00000589606ENST00000458360CC2D1Achr1914030015+ZMYND8chr2045938948-0.002760120.9972398
ENST00000589606ENST00000262975CC2D1Achr1914030015+ZMYND8chr2045938948-0.0034252530.99657476
ENST00000589606ENST00000471951CC2D1Achr1914030015+ZMYND8chr2045938948-0.0038727710.9961273
ENST00000589606ENST00000352431CC2D1Achr1914030015+ZMYND8chr2045938948-0.0026966180.99730337
ENST00000589606ENST00000396281CC2D1Achr1914030015+ZMYND8chr2045938948-0.0041148370.9958852
ENST00000589606ENST00000446994CC2D1Achr1914030015+ZMYND8chr2045938948-0.0049125490.99508744
ENST00000589606ENST00000536340CC2D1Achr1914030015+ZMYND8chr2045938948-0.0051348830.9948651
ENST00000589606ENST00000355972CC2D1Achr1914030015+ZMYND8chr2045938948-0.0051348830.9948651
ENST00000589606ENST00000540497CC2D1Achr1914030015+ZMYND8chr2045938948-0.0053939840.9946061
ENST00000589606ENST00000461685CC2D1Achr1914030015+ZMYND8chr2045938948-0.0052372490.9947627
ENST00000589606ENST00000372023CC2D1Achr1914030015+ZMYND8chr2045938948-0.0028369710.997163

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 CC2D1A-ZMYND8

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
CC2D1Achr1914030015ZMYND8chr20459389481222407GRAVDVAELPVPPDPGSAERTAQKRK
CC2D1Achr1914030015ZMYND8chr20459389481463409GRAVDVAELPVPPDPGSAERTAQKRK

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Potential FusionNeoAntigen Information of CC2D1A-ZMYND8 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.
CC2D1A-ZMYND8_14030015_45938948.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)
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B45:01AELPVPPDP0.98830.9875615
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B50:02AELPVPPDP0.98210.8059615
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B41:01AELPVPPDP0.42110.9879615
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B50:01AELPVPPDP0.39760.9342615
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B56:01LPVPPDPGSA0.97260.6848818
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B55:01LPVPPDPGSA0.94850.5791818
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B54:01LPVPPDPGS0.97990.8163817
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B40:06AELPVPPDP0.97110.9493615
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B54:01LPVPPDPGSA0.99520.8924818
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B56:04LPVPPDPGSA0.85470.8322818
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B78:01LPVPPDPGSA0.6190.7207818
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B55:02LPVPPDPGS0.83010.5758817
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B50:05AELPVPPDP0.39760.9342615
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B50:04AELPVPPDP0.39760.9342615
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B55:02LPVPPDPGSA0.97630.7613818
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B56:02LPVPPDPGSA0.85470.8322818
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B56:05LPVPPDPGSA0.84050.6393818
CC2D1A-ZMYND8chr1914030015chr20459389481463HLA-B78:02LPVPPDPGSA0.59390.7589818

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Potential FusionNeoAntigen Information of CC2D1A-ZMYND8 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.
CC2D1A-ZMYND8_14030015_45938948.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)
CC2D1A-ZMYND8chr1914030015chr20459389481463DRB1-0411AVDVAELPVPPDPGS217
CC2D1A-ZMYND8chr1914030015chr20459389481463DRB1-0411RAVDVAELPVPPDPG116
CC2D1A-ZMYND8chr1914030015chr20459389481463DRB1-0467AVDVAELPVPPDPGS217
CC2D1A-ZMYND8chr1914030015chr20459389481463DRB1-0467RAVDVAELPVPPDPG116
CC2D1A-ZMYND8chr1914030015chr20459389481463DRB1-0491AVDVAELPVPPDPGS217
CC2D1A-ZMYND8chr1914030015chr20459389481463DRB1-0491RAVDVAELPVPPDPG116

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Fusion breakpoint peptide structures of CC2D1A-ZMYND8

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
162AELPVPPDPGSAERCC2D1AZMYND8chr1914030015chr20459389481463

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of CC2D1A-ZMYND8

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-B14:023BVN162AELPVPPDPGSAER-4.98419-5.17619
HLA-B14:023BVN162AELPVPPDPGSAER-3.82803-4.58903
HLA-B52:013W39162AELPVPPDPGSAER-7.13483-7.32683
HLA-B52:013W39162AELPVPPDPGSAER-4.52031-5.28131
HLA-A24:025HGA162AELPVPPDPGSAER-8.1238-8.3158
HLA-A24:025HGA162AELPVPPDPGSAER-5.63898-6.39998
HLA-B44:053DX8162AELPVPPDPGSAER-5.10902-5.87002
HLA-B44:053DX8162AELPVPPDPGSAER-3.5494-3.7414

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Vaccine Design for the FusionNeoAntigens of CC2D1A-ZMYND8

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
CC2D1A-ZMYND8chr1914030015chr2045938948615AELPVPPDPCTGAATTGCCCGTGCCCCCAGATCCTG
CC2D1A-ZMYND8chr1914030015chr2045938948817LPVPPDPGSTGCCCGTGCCCCCAGATCCTGGCTCTG
CC2D1A-ZMYND8chr1914030015chr2045938948818LPVPPDPGSATGCCCGTGCCCCCAGATCCTGGCTCTGCAG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
CC2D1A-ZMYND8chr1914030015chr2045938948116RAVDVAELPVPPDPGGAGCCGTGGATGTCGCTGAATTGCCCGTGCCCCCAGATCCTGGCT
CC2D1A-ZMYND8chr1914030015chr2045938948217AVDVAELPVPPDPGSCCGTGGATGTCGCTGAATTGCCCGTGCCCCCAGATCCTGGCTCTG

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Information of the samples that have these potential fusion neoantigens of CC2D1A-ZMYND8

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
PCPGCC2D1A-ZMYND8chr1914030015ENST00000318003chr2045938948ENST00000262975TCGA-WB-A818-01A

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Potential target of CAR-T therapy development for CC2D1A-ZMYND8

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 CC2D1A-ZMYND8

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 CC2D1A-ZMYND8

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