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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:HSPB6-AKT1 (FusionGDB2 ID:37799)

Fusion Gene Summary for HSPB6-AKT1

check button Fusion gene summary
Fusion gene informationFusion gene name: HSPB6-AKT1
Fusion gene ID: 37799
HgeneTgene
Gene symbol

HSPB6

AKT1

Gene ID

126393

207

Gene nameheat shock protein family B (small) member 6AKT serine/threonine kinase 1
SynonymsHEL55|Hsp20|PPP1R91AKT|CWS6|PKB|PKB-ALPHA|PRKBA|RAC|RAC-ALPHA
Cytomap

19q13.12

14q32.33

Type of geneprotein-codingprotein-coding
Descriptionheat shock protein beta-6epididymis luminal protein 55epididymis secretory sperm binding proteinheat shock 20 kDa-like protein p20heat shock protein family B (small) member B6heat shock protein, alpha-crystallin-related, B6protein phosphatase 1, regRAC-alpha serine/threonine-protein kinaseAKT1mPKB alphaRAC-PK-alphaprotein kinase B alphaproto-oncogene c-Aktrac protein kinase alphaserine-threonine protein kinasev-akt murine thymoma viral oncogene homolog 1v-akt murine thymoma viral oncogene-l
Modification date2020031320200329
UniProtAcc.

Q96B36

Ensembl transtripts involved in fusion geneENST00000592984, ENST00000004982, 
ENST00000587965, 		ENST00000554581, 
ENST00000407796, ENST00000349310, 
ENST00000402615, ENST00000555528, 
ENST00000554848, ENST00000555458, 
ENST00000554192, ENST00000544168, 
ENST00000554585, 
Fusion gene scores* DoF score4 X 4 X 1=163 X 3 X 3=27
# samples 43
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HSPB6 [Title/Abstract] AND AKT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHSPB6(36246433)-AKT1(105239870), # 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
HgeneHSPB6

GO:0045766

positive regulation of angiogenesis

22427880

HgeneHSPB6

GO:0061077

chaperone-mediated protein folding

14717697

TgeneAKT1

GO:0001934

positive regulation of protein phosphorylation

19057511

TgeneAKT1

GO:0006468

protein phosphorylation

11994271|14749367|23431171

TgeneAKT1

GO:0007173

epidermal growth factor receptor signaling pathway

20878056

TgeneAKT1

GO:0016310

phosphorylation

20333297

TgeneAKT1

GO:0018105

peptidyl-serine phosphorylation

16139227

TgeneAKT1

GO:0018107

peptidyl-threonine phosphorylation

20605787

TgeneAKT1

GO:0030307

positive regulation of cell growth

19203586

TgeneAKT1

GO:0032079

positive regulation of endodeoxyribonuclease activity

20605787

TgeneAKT1

GO:0033138

positive regulation of peptidyl-serine phosphorylation

19667065

TgeneAKT1

GO:0035556

intracellular signal transduction

14749367

TgeneAKT1

GO:0035655

interleukin-18-mediated signaling pathway

21321938

TgeneAKT1

GO:0043066

negative regulation of apoptotic process

19203586

TgeneAKT1

GO:0043536

positive regulation of blood vessel endothelial cell migration

20011604

TgeneAKT1

GO:0048661

positive regulation of smooth muscle cell proliferation

21321938

TgeneAKT1

GO:0051091

positive regulation of DNA-binding transcription factor activity

19057511

TgeneAKT1

GO:0070141

response to UV-A

18483258


check buttonFusion gene breakpoints across HSPB6 (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 AKT1 (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/ADA556158HSPB6chr19

36246433

-AKT1chr14

105239870

-


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Fusion Gene ORF analysis for HSPB6-AKT1

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
intron-3CDSENST00000592984ENST00000554581HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000592984ENST00000407796HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000592984ENST00000349310HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000592984ENST00000402615HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000592984ENST00000555528HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000592984ENST00000554848HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-intronENST00000592984ENST00000555458HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-intronENST00000592984ENST00000554192HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-intronENST00000592984ENST00000544168HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-intronENST00000592984ENST00000554585HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000004982ENST00000554581HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000004982ENST00000407796HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000004982ENST00000349310HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000004982ENST00000402615HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000004982ENST00000555528HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000004982ENST00000554848HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-intronENST00000004982ENST00000555458HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-intronENST00000004982ENST00000554192HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-intronENST00000004982ENST00000544168HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-intronENST00000004982ENST00000554585HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000587965ENST00000554581HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000587965ENST00000407796HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000587965ENST00000349310HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000587965ENST00000402615HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000587965ENST00000555528HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-3CDSENST00000587965ENST00000554848HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-intronENST00000587965ENST00000555458HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-intronENST00000587965ENST00000554192HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-intronENST00000587965ENST00000544168HSPB6chr19

36246433

-AKT1chr14

105239870

-
intron-intronENST00000587965ENST00000554585HSPB6chr19

36246433

-AKT1chr14

105239870

-

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 HSPB6-AKT1


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 HSPB6-AKT1


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.AKT1

Q96B36

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Subunit of mTORC1, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at 'Thr-389', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Within mTORC1, AKT1S1 negatively regulates mTOR activity in a manner that is dependent on its phosphorylation state and binding to 14-3-3 proteins. Inhibits RHEB-GTP-dependent mTORC1 activation. Substrate for AKT1 phosphorylation, but can also be activated by AKT1-independent mechanisms. May also play a role in nerve growth factor-mediated neuroprotection. {ECO:0000269|PubMed:16174443, ECO:0000269|PubMed:17277771, ECO:0000269|PubMed:17386266}.

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 HSPB6-AKT1


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 HSPB6-AKT1


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 HSPB6-AKT1


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 HSPB6-AKT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHSPB6C0013221Drug toxicity1CTD_human
HgeneHSPB6C0018799Heart Diseases1CTD_human
HgeneHSPB6C0041755Adverse reaction to drug1CTD_human
TgeneAKT1C0005586Bipolar Disorder5PSYGENET
TgeneAKT1C0011570Mental Depression5PSYGENET
TgeneAKT1C0011581Depressive disorder5PSYGENET
TgeneAKT1C0036341Schizophrenia5CTD_human;GENOMICS_ENGLAND
TgeneAKT1C0006142Malignant neoplasm of breast3CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneAKT1C0024121Lung Neoplasms3CTD_human
TgeneAKT1C0085261Proteus Syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneAKT1C0242379Malignant neoplasm of lung3CTD_human
TgeneAKT1C1140680Malignant neoplasm of ovary3CGI;CTD_human;GENOMICS_ENGLAND
TgeneAKT1C0021368Inflammation2CTD_human
TgeneAKT1C0033578Prostatic Neoplasms2CTD_human
TgeneAKT1C0376358Malignant neoplasm of prostate2CTD_human
TgeneAKT1C0525045Mood Disorders2PSYGENET
TgeneAKT1C0919267ovarian neoplasm2CGI;CTD_human
TgeneAKT1C0006868Cannabis Abuse1CTD_human
TgeneAKT1C0006870Cannabis Dependence1CTD_human
TgeneAKT1C0007114Malignant neoplasm of skin1CTD_human
TgeneAKT1C0007137Squamous cell carcinoma1CTD_human
TgeneAKT1C0009402Colorectal Carcinoma1CTD_human;GENOMICS_ENGLAND
TgeneAKT1C0014544Epilepsy1CTD_human
TgeneAKT1C0016059Fibrosis1CTD_human
TgeneAKT1C0018553Hamartoma Syndrome, Multiple1ORPHANET
TgeneAKT1C0018614Hashish Abuse1CTD_human
TgeneAKT1C0018800Cardiomegaly1CTD_human
TgeneAKT1C0020507Hyperplasia1CTD_human
TgeneAKT1C0023487Acute Promyelocytic Leukemia1CTD_human
TgeneAKT1C0024809Marijuana Abuse1CTD_human
TgeneAKT1C0025286Meningioma1CGI;CTD_human
TgeneAKT1C0026846Muscular Atrophy1CTD_human
TgeneAKT1C0028754Obesity1CTD_human
TgeneAKT1C0030193Pain1CTD_human
TgeneAKT1C0032580Adenomatous Polyposis Coli1CTD_human
TgeneAKT1C0032927Precancerous Conditions1CTD_human
TgeneAKT1C0033141Cardiomyopathies, Primary1CTD_human
TgeneAKT1C0033937Psychoses, Drug1CTD_human
TgeneAKT1C0033941Psychoses, Substance-Induced1CTD_human
TgeneAKT1C0036529Myocardial Diseases, Secondary1CTD_human
TgeneAKT1C0037286Skin Neoplasms1CTD_human
TgeneAKT1C0079772T-Cell Lymphoma1CTD_human
TgeneAKT1C0086237Epilepsy, Cryptogenic1CTD_human
TgeneAKT1C0205834Meningiomas, Multiple1CTD_human
TgeneAKT1C0234230Pain, Burning1CTD_human
TgeneAKT1C0234238Ache1CTD_human
TgeneAKT1C0234254Radiating pain1CTD_human
TgeneAKT1C0236018Aura1CTD_human
TgeneAKT1C0236733Amphetamine-Related Disorders1CTD_human
TgeneAKT1C0236735Cannabis-Related Disorder1CTD_human
TgeneAKT1C0236804Amphetamine Addiction1CTD_human
TgeneAKT1C0236807Amphetamine Abuse1CTD_human
TgeneAKT1C0259785Malignant Meningioma1CTD_human
TgeneAKT1C0270948Neurogenic Muscular Atrophy1CTD_human
TgeneAKT1C0281784Benign Meningioma1CTD_human
TgeneAKT1C0282313Condition, Preneoplastic1CTD_human
TgeneAKT1C0334605Meningothelial meningioma1CTD_human
TgeneAKT1C0334606Fibrous Meningioma1CTD_human
TgeneAKT1C0334607Psammomatous Meningioma1CTD_human
TgeneAKT1C0334608Angiomatous Meningioma1CTD_human
TgeneAKT1C0334609Hemangioblastic Meningioma1CTD_human
TgeneAKT1C0334610Hemangiopericytic Meningioma1CTD_human
TgeneAKT1C0334611Transitional Meningioma1CTD_human
TgeneAKT1C0347515Spinal Meningioma1CTD_human
TgeneAKT1C0349604Intracranial Meningioma1CTD_human
TgeneAKT1C0428791Aortic valve calcification1CTD_human
TgeneAKT1C0431121Clear Cell Meningioma1CTD_human
TgeneAKT1C0457190Xanthomatous Meningioma1CTD_human
TgeneAKT1C0458257Pain, Splitting1CTD_human
TgeneAKT1C0458259Pain, Crushing1CTD_human
TgeneAKT1C0678222Breast Carcinoma1CGI;CTD_human
TgeneAKT1C0751111Awakening Epilepsy1CTD_human
TgeneAKT1C0751303Cerebral Convexity Meningioma1CTD_human
TgeneAKT1C0751304Parasagittal Meningioma1CTD_human
TgeneAKT1C0751407Pain, Migratory1CTD_human
TgeneAKT1C0751408Suffering, Physical1CTD_human
TgeneAKT1C0878544Cardiomyopathies1CTD_human
TgeneAKT1C1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneAKT1C1257931Mammary Neoplasms, Human1CTD_human
TgeneAKT1C1334261Intraorbital Meningioma1CTD_human
TgeneAKT1C1334271Intraventricular Meningioma1CTD_human
TgeneAKT1C1335107Olfactory Groove Meningioma1CTD_human
TgeneAKT1C1383860Cardiac Hypertrophy1CTD_human
TgeneAKT1C1384406Secretory meningioma1CTD_human
TgeneAKT1C1384408Microcystic meningioma1CTD_human
TgeneAKT1C1458155Mammary Neoplasms1CTD_human
TgeneAKT1C1527197Angioblastic Meningioma1CTD_human
TgeneAKT1C1565950Posterior Fossa Meningioma1CTD_human
TgeneAKT1C1565951Sphenoid Wing Meningioma1CTD_human
TgeneAKT1C1623038Cirrhosis1CTD_human
TgeneAKT1C2713442Polyposis, Adenomatous Intestinal1CTD_human
TgeneAKT1C2713443Familial Intestinal Polyposis1CTD_human
TgeneAKT1C3163622Papillary Meningioma1CTD_human
TgeneAKT1C3554519COWDEN SYNDROME 61CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneAKT1C4704874Mammary Carcinoma, Human1CTD_human