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Center for Computational Systems Medicine
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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-HSPB1 (FusionGDB2 ID:37766)

Fusion Gene Summary for HSPB1-HSPB1

check button Fusion gene summary
Fusion gene informationFusion gene name: HSPB1-HSPB1
Fusion gene ID: 37766
HgeneTgene
Gene symbol

HSPB1

HSPB1

Gene ID

3315

3315

Gene nameheat shock protein family B (small) member 1heat shock protein family B (small) member 1
SynonymsCMT2F|HEL-S-102|HMN2B|HS.76067|HSP27|HSP28|Hsp25|SRP27CMT2F|HEL-S-102|HMN2B|HS.76067|HSP27|HSP28|Hsp25|SRP27
Cytomap

7q11.23

7q11.23

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 27heat 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 27
Modification date2020032720200327
UniProtAcc

P04792

Q9Y547

Ensembl transtripts involved in fusion geneENST00000248553, ENST00000429938, 
ENST00000248553, ENST00000429938, 
Fusion gene scores* DoF score24 X 17 X 8=326411 X 10 X 4=440
# samples 2611
** MAII scorelog2(26/3264*10)=-3.65005752894304
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/440*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointHSPB1(75932066)-HSPB1(75933375), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across HSPB1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across HSPB1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChiTaRS5.0N/AAI609727HSPB1chr7

75932066

-HSPB1chr7

75933375

-


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Fusion Gene ORF analysis for HSPB1-HSPB1

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
In-frameENST00000248553ENST00000248553HSPB1chr7

75932066

-HSPB1chr7

75933375

-
5CDS-5UTRENST00000248553ENST00000429938HSPB1chr7

75932066

-HSPB1chr7

75933375

-
intron-3CDSENST00000429938ENST00000248553HSPB1chr7

75932066

-HSPB1chr7

75933375

-
intron-5UTRENST00000429938ENST00000429938HSPB1chr7

75932066

-HSPB1chr7

75933375

-

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-HSPB1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for HSPB1-HSPB1


check button Go to

FGviewer for the breakpoints of chr7:75932066-chr7:75933375

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HSPB1

P04792

HSPB1

Q9Y547

FUNCTION: Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state (PubMed:10383393, PubMed:20178975). Plays a role in stress resistance and actin organization (PubMed:19166925). Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins (PubMed:23728742). {ECO:0000269|PubMed:10383393, ECO:0000269|PubMed:19166925, ECO:0000269|PubMed:20178975, ECO:0000269|PubMed:23728742}.FUNCTION: Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity). {ECO:0000250|UniProtKB:Q9D6H2}.

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
TgeneHSPB1chr7:75932066chr7:75933375ENST000002485530376_1840206.0DomainsHSP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHSPB1chr7:75932066chr7:75933375ENST00000248553-1376_1840206.0DomainsHSP


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Fusion Gene Sequence for HSPB1-HSPB1


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-HSPB1


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
TgeneHSPB1chr7:75932066chr7:75933375ENST000002485530370_2050206.0TGFB1I1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneHSPB1chr7:75932066chr7:75933375ENST00000248553-1370_2050206.0TGFB1I1


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-HSPB1


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-HSPB1


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
TgeneHSPB1C2608087NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB13CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneHSPB1C1847823CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F6CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneHSPB1C0007102Malignant tumor of colon1CTD_human
TgeneHSPB1C0007134Renal Cell Carcinoma1CTD_human
TgeneHSPB1C0007137Squamous cell carcinoma1CTD_human
TgeneHSPB1C0007194Hypertrophic Cardiomyopathy1CTD_human
TgeneHSPB1C0009375Colonic Neoplasms1CTD_human
TgeneHSPB1C0011616Contact Dermatitis1CTD_human
TgeneHSPB1C0018801Heart failure1CTD_human
TgeneHSPB1C0018802Congestive heart failure1CTD_human
TgeneHSPB1C0019693HIV Infections1CTD_human
TgeneHSPB1C0020507Hyperplasia1CTD_human
TgeneHSPB1C0023212Left-Sided Heart Failure1CTD_human
TgeneHSPB1C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneHSPB1C0024623Malignant neoplasm of stomach1CTD_human
TgeneHSPB1C0026640Mouth Neoplasms1CTD_human
TgeneHSPB1C0026764Multiple Myeloma1CTD_human
TgeneHSPB1C0026998Acute Myeloid Leukemia, M11CTD_human
TgeneHSPB1C0035126Reperfusion Injury1CTD_human
TgeneHSPB1C0038220Status Epilepticus1CTD_human
TgeneHSPB1C0038356Stomach Neoplasms1CTD_human
TgeneHSPB1C0040411Tongue Neoplasms1CTD_human
TgeneHSPB1C0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneHSPB1C0153349Malignant neoplasm of tongue1CTD_human
TgeneHSPB1C0153381Malignant neoplasm of mouth1CTD_human
TgeneHSPB1C0162351Contact hypersensitivity1CTD_human
TgeneHSPB1C0235527Heart Failure, Right-Sided1CTD_human
TgeneHSPB1C0270823Petit mal status1CTD_human
TgeneHSPB1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneHSPB1C0311335Grand Mal Status Epilepticus1CTD_human
TgeneHSPB1C0393734Complex Partial Status Epilepticus1CTD_human
TgeneHSPB1C0751522Status Epilepticus, Subclinical1CTD_human
TgeneHSPB1C0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneHSPB1C0751524Simple Partial Status Epilepticus1CTD_human
TgeneHSPB1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneHSPB1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneHSPB1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneHSPB1C1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneHSPB1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneHSPB1C1854023Spinal muscular atrophy, Jerash type1ORPHANET
TgeneHSPB1C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
TgeneHSPB1C1959583Myocardial Failure1CTD_human
TgeneHSPB1C1961112Heart Decompensation1CTD_human
TgeneHSPB1C2239176Liver carcinoma1CTD_human
TgeneHSPB1C3711384Distal Hereditary Motor Neuropathy, Type II1ORPHANET
TgeneHSPB1C4505456HIV Coinfection1CTD_human
TgeneHSPB1C4551472Hypertrophic obstructive cardiomyopathy1CTD_human