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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:CYP51A1-BAIAP2L1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CYP51A1-BAIAP2L1
FusionPDB ID: 21112
FusionGDB2.0 ID: 21112
HgeneTgene
Gene symbol

CYP51A1

BAIAP2L1

Gene ID

1595

55971

Gene namecytochrome P450 family 51 subfamily A member 1BAR/IMD domain containing adaptor protein 2 like 1
SynonymsCP51|CYP51|CYPL1|LDM|P450-14DM|P450L1IRTKS
Cytomap

7q21.2

7q21.3-q22.1

Type of geneprotein-codingprotein-coding
Descriptionlanosterol 14-alpha demethylaseCYPLIcytochrome P450 51A1cytochrome P450, 51 (lanosterol 14-alpha-demethylase)cytochrome P450, family 51, subfamily A, polypeptide 1cytochrome P450-14DMcytochrome P45014DMcytochrome P450LIsterol 14-alpha demethylasebrain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1BAI1 associated protein 2 like 1BAI1-associated protein 2-like protein 1insulin receptor tyrosine kinase substrate
Modification date2020031320200313
UniProtAcc

Q16850

Main function of 5'-partner protein: FUNCTION: A cytochrome P450 monooxygenase involved in sterol biosynthesis. Catalyzes 14-alpha demethylation of lanosterol and 24,25-dihydrolanosterol likely through sequential oxidative conversion of 14-alpha methyl group to hydroxymethyl, then to carboxylaldehyde, followed by the formation of the delta 14,15 double bond in the sterol core and concomitant release of formic acid (PubMed:20149798, PubMed:8619637). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:20149798, PubMed:8619637). {ECO:0000269|PubMed:20149798, ECO:0000269|PubMed:8619637}.

Q9UHR4

Main function of 5'-partner protein: FUNCTION: May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. {ECO:0000269|PubMed:17430976, ECO:0000269|PubMed:19366662, ECO:0000269|PubMed:22921828}.
Ensembl transtripts involved in fusion geneENST idsENST00000003100, ENST00000450723, 
ENST00000462558, ENST00000005260, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 5 X 4=8016 X 9 X 7=1008
# samples 416
** MAII scorelog2(4/80*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/1008*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: CYP51A1 [Title/Abstract] AND BAIAP2L1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: CYP51A1 [Title/Abstract] AND BAIAP2L1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CYP51A1(91752434)-BAIAP2L1(97991744), # samples:2
Anticipated loss of major functional domain due to fusion event.CYP51A1-BAIAP2L1 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.
CYP51A1-BAIAP2L1 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.
CYP51A1-BAIAP2L1 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.
CYP51A1-BAIAP2L1 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.
CYP51A1-BAIAP2L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CYP51A1-BAIAP2L1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target 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
HgeneCYP51A1

GO:0006694

steroid biosynthetic process

20149798

TgeneBAIAP2L1

GO:0009617

response to bacterium

19366662

TgeneBAIAP2L1

GO:0030838

positive regulation of actin filament polymerization

21098279



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/chr7:91752434/chr7:97991744)
- 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 CYP51A1 (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 BAIAP2L1 (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)
ENST00000003100CYP51A1chr791752434-ENST00000005260BAIAP2L1chr797991744-460712521662736856

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
ENST00000003100ENST00000005260CYP51A1chr791752434-BAIAP2L1chr797991744-0.0005235160.9994765

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 CYP51A1-BAIAP2L1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
CYP51A1chr791752434BAIAP2L1chr7979917441252353KKCYLEQKTVCGENLPPLTYDQNVME

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Potential FusionNeoAntigen Information of CYP51A1-BAIAP2L1 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.
CYP51A1-BAIAP2L1_91752434_97991744.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)
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:01ENLPPLTY0.91240.88081220
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B44:03GENLPPLTY0.99860.94591120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B47:01GENLPPLTY0.97080.61851120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:01GENLPPLTY0.93020.96091120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:01GENLPPLTY0.71560.88081120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:25GENLPPLTY0.60610.91061120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B45:01GENLPPLTY0.58160.84651120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B50:02GENLPPLTY0.5280.57991120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B41:01GENLPPLTY0.1990.961120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:18GENLPPLTY0.08720.73671120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:03GENLPPLTY0.08720.76551120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B50:01GENLPPLTY0.01480.70681120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B44:03CGENLPPLTY0.30090.95721020
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B44:03VCGENLPPLTY0.75030.9415920
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B40:06GENLPPLTY0.82050.63061120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:05GENLPPLTY0.4750.87781120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:31GENLPPLTY0.3920.88461120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-A01:02CGENLPPLTY0.93240.61991020
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:04ENLPPLTY0.95180.89741220
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:06ENLPPLTY0.94190.88451220
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:07ENLPPLTY0.93480.86191220
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:08ENLPPLTY0.91720.83561220
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:03ENLPPLTY0.91330.86891220
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:05ENLPPLTY0.91240.88081220
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:11ENLPPLTY0.89470.75721220
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B44:07GENLPPLTY0.99860.94591120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B44:26GENLPPLTY0.99860.94591120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B44:13GENLPPLTY0.99860.94591120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:04GENLPPLTY0.95830.96411120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:07GENLPPLTY0.94260.94491120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:05GENLPPLTY0.93020.96091120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:08GENLPPLTY0.9140.93121120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:06GENLPPLTY0.89750.96321120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:03GENLPPLTY0.88470.95491120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:11GENLPPLTY0.74990.94241120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:125GENLPPLTY0.71560.88081120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:33GENLPPLTY0.71560.88081120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:34GENLPPLTY0.71560.88081120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B40:04GENLPPLTY0.70810.67031120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:27GENLPPLTY0.69730.91291120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:135GENLPPLTY0.67170.85931120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:50GENLPPLTY0.63540.95751120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:39GENLPPLTY0.59820.8361120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:12GENLPPLTY0.51940.90691120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:20GENLPPLTY0.4760.92521120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B35:28GENLPPLTY0.43590.92371120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B35:20GENLPPLTY0.38030.93231120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:53GENLPPLTY0.27440.86061120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B41:03GENLPPLTY0.20460.61071120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B48:02GENLPPLTY0.14040.90781120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:54GENLPPLTY0.03890.83071120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B50:04GENLPPLTY0.01480.70681120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B50:05GENLPPLTY0.01480.70681120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:68GENLPPLTY0.00520.64981120
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:53CGENLPPLTY0.65390.87661020
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B44:13CGENLPPLTY0.30090.95721020
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B44:26CGENLPPLTY0.30090.95721020
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B44:07CGENLPPLTY0.30090.95721020
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B15:53VCGENLPPLTY0.98970.8615920
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B48:02VCGENLPPLTY0.9480.947920
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B18:11VCGENLPPLTY0.90670.9335920
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B44:13VCGENLPPLTY0.75030.9415920
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B44:07VCGENLPPLTY0.75030.9415920
CYP51A1-BAIAP2L1chr791752434chr7979917441252HLA-B44:26VCGENLPPLTY0.75030.9415920

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Potential FusionNeoAntigen Information of CYP51A1-BAIAP2L1 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 CYP51A1-BAIAP2L1

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
7365QKTVCGENLPPLTYCYP51A1BAIAP2L1chr791752434chr7979917441252

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of CYP51A1-BAIAP2L1

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-B14:023BVN7365QKTVCGENLPPLTY-7.15543-7.26883
HLA-B14:023BVN7365QKTVCGENLPPLTY-4.77435-5.80965
HLA-B52:013W397365QKTVCGENLPPLTY-6.80875-6.92215
HLA-B52:013W397365QKTVCGENLPPLTY-4.20386-5.23916
HLA-A11:014UQ27365QKTVCGENLPPLTY-7.5194-8.5547
HLA-A11:014UQ27365QKTVCGENLPPLTY-6.9601-7.0735
HLA-A24:025HGA7365QKTVCGENLPPLTY-7.52403-7.63743
HLA-A24:025HGA7365QKTVCGENLPPLTY-5.82433-6.85963
HLA-B27:056PYJ7365QKTVCGENLPPLTY-3.28285-4.31815
HLA-B44:053DX87365QKTVCGENLPPLTY-5.91172-6.94702
HLA-B44:053DX87365QKTVCGENLPPLTY-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of CYP51A1-BAIAP2L1

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
CYP51A1-BAIAP2L1chr791752434chr7979917441020CGENLPPLTYTATGACCAGAATGTTATGGAACAGTTCAAT
CYP51A1-BAIAP2L1chr791752434chr7979917441120GENLPPLTYGACCAGAATGTTATGGAACAGTTCAAT
CYP51A1-BAIAP2L1chr791752434chr7979917441220ENLPPLTYCAGAATGTTATGGAACAGTTCAAT
CYP51A1-BAIAP2L1chr791752434chr797991744920VCGENLPPLTYACTTATGACCAGAATGTTATGGAACAGTTCAAT

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 CYP51A1-BAIAP2L1

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
BRCACYP51A1-BAIAP2L1chr791752434ENST00000003100chr797991744ENST00000005260TCGA-A7-A4SD-01A

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Potential target of CAR-T therapy development for CYP51A1-BAIAP2L1

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
HgeneCYP51A1chr7:91752434chr7:97991744ENST00000003100-71024_44362510.0TransmembraneHelical
HgeneCYP51A1chr7:91752434chr7:97991744ENST00000450723-71024_44257405.0TransmembraneHelical

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 CYP51A1-BAIAP2L1

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 CYP51A1-BAIAP2L1

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
TgeneBAIAP2L1C0003873Rheumatoid Arthritis1CTD_human