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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:HSPB1-TTN (FusionGDB2 ID:HG3315TG7273)

Fusion Gene Summary for HSPB1-TTN

check button Fusion gene summary
Fusion gene informationFusion gene name: HSPB1-TTN
Fusion gene ID: hg3315tg7273
HgeneTgene
Gene symbol

HSPB1

TTN

Gene ID

3315

7273

Gene nameheat shock protein family B (small) member 1titin
SynonymsCMT2F|HEL-S-102|HMN2B|HS.76067|HSP27|HSP28|Hsp25|SRP27CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|LGMDR10|MYLK5|SALMY|TMD
Cytomap('HSPB1')('TTN')

7q11.23

2q31.2

Type of geneprotein-codingprotein-coding
Descriptionheat shock protein beta-128 kDa heat shock proteinepididymis secretory protein Li 102estrogen-regulated 24 kDa proteinheat shock 27 kDa proteinheat shock 27kD protein 1heat shock 27kDa protein 1stress-responsive protein 27titinconnectinrhabdomyosarcoma antigen MU-RMS-40.14
Modification date2020032720200328
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000248553, ENST00000429938, 
Fusion gene scores* DoF score24 X 17 X 8=32647 X 8 X 4=224
# samples 268
** MAII scorelog2(26/3264*10)=-3.65005752894304
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HSPB1 [Title/Abstract] AND TTN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHSPB1(75933609)-TTN(179537430), # samples:1
Anticipated loss of major functional domain due to fusion event.HSPB1-TTN seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
HSPB1-TTN seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
HSPB1-TTN seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
HSPB1-TTN seems lost the major protein functional domain in Tgene partner, which is a kinase 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
TgeneTTN

GO:0035995

detection of muscle stretch

18765796

TgeneTTN

GO:0051592

response to calcium ion

7607248



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4HNSCTCGA-HD-8224-01AHSPB1chr7

75933609

-TTNchr2

179537430

-


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Fusion Gene ORF analysis for HSPB1-TTN

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000248553ENST00000342175HSPB1chr7

75933609

-TTNchr2

179537430

-
5CDS-intronENST00000248553ENST00000359218HSPB1chr7

75933609

-TTNchr2

179537430

-
5CDS-intronENST00000248553ENST00000360870HSPB1chr7

75933609

-TTNchr2

179537430

-
5CDS-intronENST00000248553ENST00000460472HSPB1chr7

75933609

-TTNchr2

179537430

-
5CDS-intronENST00000248553ENST00000589042HSPB1chr7

75933609

-TTNchr2

179537430

-
5CDS-intronENST00000248553ENST00000591111HSPB1chr7

75933609

-TTNchr2

179537430

-
5CDS-intronENST00000429938ENST00000342175HSPB1chr7

75933609

-TTNchr2

179537430

-
5CDS-intronENST00000429938ENST00000359218HSPB1chr7

75933609

-TTNchr2

179537430

-
5CDS-intronENST00000429938ENST00000360870HSPB1chr7

75933609

-TTNchr2

179537430

-
5CDS-intronENST00000429938ENST00000460472HSPB1chr7

75933609

-TTNchr2

179537430

-
5CDS-intronENST00000429938ENST00000589042HSPB1chr7

75933609

-TTNchr2

179537430

-
5CDS-intronENST00000429938ENST00000591111HSPB1chr7

75933609

-TTNchr2

179537430

-
Frame-shiftENST00000248553ENST00000342992HSPB1chr7

75933609

-TTNchr2

179537430

-
Frame-shiftENST00000429938ENST00000342992HSPB1chr7

75933609

-TTNchr2

179537430

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

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

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Fusion Genomic Features for HSPB1-TTN


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for HSPB1-TTN


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/:75933609/:179537430)
- 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 buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for HSPB1-TTN


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for HSPB1-TTN


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for HSPB1-TTN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for HSPB1-TTN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHSPB1C2608087NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB13CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneHSPB1C1847823CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F6CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneHSPB1C0007102Malignant tumor of colon1CTD_human
HgeneHSPB1C0007134Renal Cell Carcinoma1CTD_human
HgeneHSPB1C0007137Squamous cell carcinoma1CTD_human
HgeneHSPB1C0007194Hypertrophic Cardiomyopathy1CTD_human
HgeneHSPB1C0009375Colonic Neoplasms1CTD_human
HgeneHSPB1C0011616Contact Dermatitis1CTD_human
HgeneHSPB1C0018801Heart failure1CTD_human
HgeneHSPB1C0018802Congestive heart failure1CTD_human
HgeneHSPB1C0019693HIV Infections1CTD_human
HgeneHSPB1C0020507Hyperplasia1CTD_human
HgeneHSPB1C0023212Left-Sided Heart Failure1CTD_human
HgeneHSPB1C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneHSPB1C0024623Malignant neoplasm of stomach1CTD_human
HgeneHSPB1C0026640Mouth Neoplasms1CTD_human
HgeneHSPB1C0026764Multiple Myeloma1CTD_human
HgeneHSPB1C0026998Acute Myeloid Leukemia, M11CTD_human
HgeneHSPB1C0035126Reperfusion Injury1CTD_human
HgeneHSPB1C0038220Status Epilepticus1CTD_human
HgeneHSPB1C0038356Stomach Neoplasms1CTD_human
HgeneHSPB1C0040411Tongue Neoplasms1CTD_human
HgeneHSPB1C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneHSPB1C0153349Malignant neoplasm of tongue1CTD_human
HgeneHSPB1C0153381Malignant neoplasm of mouth1CTD_human
HgeneHSPB1C0162351Contact hypersensitivity1CTD_human
HgeneHSPB1C0235527Heart Failure, Right-Sided1CTD_human
HgeneHSPB1C0270823Petit mal status1CTD_human
HgeneHSPB1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneHSPB1C0311335Grand Mal Status Epilepticus1CTD_human
HgeneHSPB1C0393734Complex Partial Status Epilepticus1CTD_human
HgeneHSPB1C0751522Status Epilepticus, Subclinical1CTD_human
HgeneHSPB1C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneHSPB1C0751524Simple Partial Status Epilepticus1CTD_human
HgeneHSPB1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneHSPB1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneHSPB1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneHSPB1C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneHSPB1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneHSPB1C1854023Spinal muscular atrophy, Jerash type1ORPHANET
HgeneHSPB1C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
HgeneHSPB1C1959583Myocardial Failure1CTD_human
HgeneHSPB1C1961112Heart Decompensation1CTD_human
HgeneHSPB1C2239176Liver carcinoma1CTD_human
HgeneHSPB1C3711384Distal Hereditary Motor Neuropathy, Type II1ORPHANET
HgeneHSPB1C4505456HIV Coinfection1CTD_human
HgeneHSPB1C4551472Hypertrophic obstructive cardiomyopathy1CTD_human
TgeneC0007194Hypertrophic Cardiomyopathy9CLINGEN
TgeneC1858763Cardiomyopathy, Dilated, 1g7CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1861065CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 95CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1863599Hereditary Myopathy with Early Respiratory Failure5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC2673677Myopathy, Early-Onset, with Fatal Cardiomyopathy5CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0007193Cardiomyopathy, Dilated4CTD_human;GENOMICS_ENGLAND
TgeneC1838244TIBIAL MUSCULAR DYSTROPHY, TARDIVE4CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1449563Cardiomyopathy, Familial Idiopathic3CTD_human
TgeneC1837342MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J3CTD_human;GENOMICS_ENGLAND
TgeneC0004238Atrial Fibrillation2CTD_human
TgeneC0235480Paroxysmal atrial fibrillation2CTD_human
TgeneC0751336Distal Muscular Dystrophies2CTD_human;GENOMICS_ENGLAND
TgeneC2585653Persistent atrial fibrillation2CTD_human
TgeneC3468561familial atrial fibrillation2CTD_human
TgeneC0003886Arthrogryposis1GENOMICS_ENGLAND
TgeneC0026848Myopathy1CTD_human
TgeneC0151786Muscle Weakness1CTD_human
TgeneC0221054Welander Distal Myopathy1CTD_human
TgeneC0270960Congenital myopathy (disorder)1GENOMICS_ENGLAND
TgeneC0340427Familial dilated cardiomyopathy1CTD_human;ORPHANET
TgeneC0410204Myopathy, Centronuclear, Autosomal Recessive1ORPHANET
TgeneC0686353Muscular Dystrophies, Limb-Girdle1GENOMICS_ENGLAND
TgeneC1450052Tibial Muscular Dystrophy1CTD_human
TgeneC1832931ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 21ORPHANET
TgeneC1843687ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)1ORPHANET
TgeneC2678065Myofibrillar Myopathy1GENOMICS_ENGLAND
TgeneC3645536Autosomal Recessive Centronuclear Myopathy1ORPHANET
TgeneC4552004Distal Myopathy 11CTD_human