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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:AHI1-MYB

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AHI1-MYB
FusionPDB ID: 3095
FusionGDB2.0 ID: 3095
HgeneTgene
Gene symbol

AHI1

MYB

Gene ID

54806

4602

Gene nameAbelson helper integration site 1MYB proto-oncogene, transcription factor
SynonymsAHI-1|JBTS3|ORF1|dJ71N10.1Cmyb|c-myb|c-myb_CDS|efg
Cytomap

6q23.3

6q23.3

Type of geneprotein-codingprotein-coding
Descriptionjouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domainstranscriptional activator Myboncogene AMVproto-oncogene c-Mybv-myb avian myeloblastosis viral oncogene homolog
Modification date2020031320200313
UniProtAcc

Q8N157

Main function of 5'-partner protein: FUNCTION: Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382). {ECO:0000250|UniProtKB:Q8K3E5, ECO:0000269|PubMed:21623382}.

A2RUH7

Main function of 5'-partner protein: FUNCTION: Myosin-binding protein which plays a role in cardiac function (PubMed:28778945). Seems to regulate conduction in the atria and ventricular conduction systems (PubMed:28778945). {ECO:0000269|PubMed:28778945}.
Ensembl transtripts involved in fusion geneENST idsENST00000367800, ENST00000417892, 
ENST00000457866, ENST00000327035, 
ENST00000367798, ENST00000488690, 
ENST00000528103, ENST00000531527, 
ENST00000534469, 
ENST00000531845, 
ENST00000420123, ENST00000527615, 
ENST00000316528, ENST00000442647, 
ENST00000525369, ENST00000528774, 
ENST00000533624, ENST00000534044, 
ENST00000534121, ENST00000341911, 
ENST00000367814, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score10 X 11 X 6=6607 X 7 X 4=196
# samples 108
** MAII scorelog2(10/660*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/196*10)=-1.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: AHI1 [Title/Abstract] AND MYB [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: AHI1 [Title/Abstract] AND MYB [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AHI1(135679270)-MYB(135539002), # samples:2
Anticipated loss of major functional domain due to fusion event.AHI1-MYB 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.
AHI1-MYB 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.
AHI1-MYB 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.
AHI1-MYB 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.
AHI1-MYB seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AHI1-MYB seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
AHI1-MYB seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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
TgeneMYB

GO:0045944

positive regulation of transcription by RNA polymerase II

10233885|20484083



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/chr6:135679270/chr6:135539002)
- 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 AHI1 (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 MYB (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)
ENST00000367800AHI1chr6135679270-ENST00000341911MYBchr6135539002+4686338221734981093
ENST00000367800AHI1chr6135679270-ENST00000367814MYBchr6135539002+4692338221734981093
ENST00000457866AHI1chr6135679270-ENST00000316528MYBchr6135539002+4772346429935801093
ENST00000457866AHI1chr6135679270-ENST00000442647MYBchr6135539002+4772346429935801093
ENST00000457866AHI1chr6135679270-ENST00000534121MYBchr6135539002+3581346429935801094
ENST00000457866AHI1chr6135679270-ENST00000533624MYBchr6135539002+3581346429935801094
ENST00000457866AHI1chr6135679270-ENST00000534044MYBchr6135539002+3581346429935801094
ENST00000457866AHI1chr6135679270-ENST00000528774MYBchr6135539002+3581346429935801094
ENST00000417892AHI1chr6135679270-ENST00000341911MYBchr6135539002+266113571301473447
ENST00000417892AHI1chr6135679270-ENST00000367814MYBchr6135539002+266713571301473447

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
ENST00000367800ENST00000341911AHI1chr6135679270-MYBchr6135539002+0.0001257320.99987423
ENST00000367800ENST00000367814AHI1chr6135679270-MYBchr6135539002+0.0001225670.99987745
ENST00000457866ENST00000316528AHI1chr6135679270-MYBchr6135539002+0.0001286450.9998714
ENST00000457866ENST00000442647AHI1chr6135679270-MYBchr6135539002+0.0001286450.9998714
ENST00000457866ENST00000534121AHI1chr6135679270-MYBchr6135539002+0.0002215960.99977845
ENST00000457866ENST00000533624AHI1chr6135679270-MYBchr6135539002+0.0002215960.99977845
ENST00000457866ENST00000534044AHI1chr6135679270-MYBchr6135539002+0.0002215960.99977845
ENST00000457866ENST00000528774AHI1chr6135679270-MYBchr6135539002+0.0002215960.99977845
ENST00000417892ENST00000341911AHI1chr6135679270-MYBchr6135539002+0.0001965130.9998035
ENST00000417892ENST00000367814AHI1chr6135679270-MYBchr6135539002+0.0001899150.99981016

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 AHI1-MYB

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
AHI1chr6135679270MYBchr61355390021357409RKPCNHQVDTAPTPCSSTWEPASCGK
AHI1chr6135679270MYBchr613553900233821055RKPCNHQVDTAPTPCSSTWEPASCGK
AHI1chr6135679270MYBchr613553900234641055RKPCNHQVDTAPTPCSSTWEPASCGK

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Potential FusionNeoAntigen Information of AHI1-MYB 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.
AHI1-MYB_135679270_135539002.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)
AHI1-MYBchr6135679270chr61355390023382HLA-B35:01APTPCSSTW0.96780.77991019
AHI1-MYBchr6135679270chr61355390023382HLA-B35:08APTPCSSTW0.89530.77531019
AHI1-MYBchr6135679270chr61355390023382HLA-B35:05APTPCSSTW0.89360.55971019
AHI1-MYBchr6135679270chr61355390023382HLA-B50:01HQVDTAPTP0.64880.8486514
AHI1-MYBchr6135679270chr61355390023382HLA-B58:02APTPCSSTW0.63210.95641019
AHI1-MYBchr6135679270chr61355390023382HLA-B82:01APTPCSSTW0.00130.7811019
AHI1-MYBchr6135679270chr61355390023382HLA-B57:01TAPTPCSSTW0.99880.9767919
AHI1-MYBchr6135679270chr61355390023382HLA-B58:01TAPTPCSSTW0.99470.9583919
AHI1-MYBchr6135679270chr61355390023382HLA-B58:02TAPTPCSSTW0.99420.9714919
AHI1-MYBchr6135679270chr61355390023382HLA-B57:03TAPTPCSSTW0.95770.9914919
AHI1-MYBchr6135679270chr61355390023382HLA-B57:01DTAPTPCSSTW0.99920.9283819
AHI1-MYBchr6135679270chr61355390023382HLA-B58:02DTAPTPCSSTW0.99680.9181819
AHI1-MYBchr6135679270chr61355390023382HLA-B53:01DTAPTPCSSTW0.99130.5682819
AHI1-MYBchr6135679270chr61355390023382HLA-B58:01DTAPTPCSSTW0.98850.9009819
AHI1-MYBchr6135679270chr61355390023382HLA-B07:12APTPCSSTW0.79520.51031019
AHI1-MYBchr6135679270chr61355390023382HLA-B35:77APTPCSSTW0.96780.77991019
AHI1-MYBchr6135679270chr61355390023382HLA-B35:23APTPCSSTW0.96490.7981019
AHI1-MYBchr6135679270chr61355390023382HLA-B35:30APTPCSSTW0.9180.6961019
AHI1-MYBchr6135679270chr61355390023382HLA-B35:17APTPCSSTW0.9180.6961019
AHI1-MYBchr6135679270chr61355390023382HLA-B15:13APTPCSSTW0.84960.92031019
AHI1-MYBchr6135679270chr61355390023382HLA-B50:05HQVDTAPTP0.64880.8486514
AHI1-MYBchr6135679270chr61355390023382HLA-B50:04HQVDTAPTP0.64880.8486514
AHI1-MYBchr6135679270chr61355390023382HLA-B82:02APTPCSSTW0.00130.7811019
AHI1-MYBchr6135679270chr61355390023382HLA-B57:04TAPTPCSSTW0.99890.7507919
AHI1-MYBchr6135679270chr61355390023382HLA-B57:10TAPTPCSSTW0.99880.9767919
AHI1-MYBchr6135679270chr61355390023382HLA-B58:06TAPTPCSSTW0.99450.9714919
AHI1-MYBchr6135679270chr61355390023382HLA-B57:02TAPTPCSSTW0.98470.9454919
AHI1-MYBchr6135679270chr61355390023382HLA-B15:13TAPTPCSSTW0.98370.9189919
AHI1-MYBchr6135679270chr61355390023382HLA-A25:01TAPTPCSSTW0.39150.893919
AHI1-MYBchr6135679270chr61355390023382HLA-B57:04DTAPTPCSSTW0.99930.7197819
AHI1-MYBchr6135679270chr61355390023382HLA-B57:10DTAPTPCSSTW0.99920.9283819
AHI1-MYBchr6135679270chr61355390023382HLA-A25:01DTAPTPCSSTW0.99870.9002819
AHI1-MYBchr6135679270chr61355390023382HLA-B57:02DTAPTPCSSTW0.99610.9185819
AHI1-MYBchr6135679270chr61355390023382HLA-B15:13DTAPTPCSSTW0.99480.9071819
AHI1-MYBchr6135679270chr61355390023382HLA-B53:02DTAPTPCSSTW0.990.5613819

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Potential FusionNeoAntigen Information of AHI1-MYB 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 AHI1-MYB

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
7610QVDTAPTPCSSTWEAHI1MYBchr6135679270chr61355390023382

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of AHI1-MYB

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-B14:023BVN7610QVDTAPTPCSSTWE-7.9953-8.11
HLA-B14:023BVN7610QVDTAPTPCSSTWE-6.76387-7.80047
HLA-B52:013W397610QVDTAPTPCSSTWE-6.72115-6.83585
HLA-B52:013W397610QVDTAPTPCSSTWE-4.59437-5.63097
HLA-A24:025HGA7610QVDTAPTPCSSTWE-8.73414-8.84884
HLA-A24:025HGA7610QVDTAPTPCSSTWE-6.32039-7.35699
HLA-B44:053DX87610QVDTAPTPCSSTWE-5.20472-5.31942
HLA-B44:053DX87610QVDTAPTPCSSTWE-4.80907-5.84567
HLA-A02:016TDR7610QVDTAPTPCSSTWE0.647201-0.389399

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Vaccine Design for the FusionNeoAntigens of AHI1-MYB

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
AHI1-MYBchr6135679270chr61355390021019APTPCSSTWGCACCAACGCCTTGTAGCAGTACCTGG
AHI1-MYBchr6135679270chr6135539002514HQVDTAPTPCATCAGGTAGATACAGCACCAACGCCT
AHI1-MYBchr6135679270chr6135539002819DTAPTPCSSTWGATACAGCACCAACGCCTTGTAGCAGTACCTGG
AHI1-MYBchr6135679270chr6135539002919TAPTPCSSTWACAGCACCAACGCCTTGTAGCAGTACCTGG

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 AHI1-MYB

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
BRCAAHI1-MYBchr6135679270ENST00000367800chr6135539002ENST00000341911TCGA-A2-A3XS-01A

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Potential target of CAR-T therapy development for AHI1-MYB

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 AHI1-MYB

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 AHI1-MYB

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
TgeneMYBC0010606Adenoid Cystic Carcinoma2CTD_human
TgeneMYBC0017638Glioma2CTD_human
TgeneMYBC0259783mixed gliomas2CTD_human
TgeneMYBC0555198Malignant Glioma2CTD_human
TgeneMYBC1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma2CTD_human;ORPHANET
TgeneMYBC0004096Asthma1CTD_human
TgeneMYBC0023437Acute Basophilic Leukemia1ORPHANET
TgeneMYBC2363903Angiocentric glioma1ORPHANET