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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 16409

FusionGeneSummary for HMBOX1_CLU

check button Fusion gene summary
Fusion gene informationFusion gene name: HMBOX1_CLU
Fusion gene ID: 16409
HgeneTgene
Gene symbol

HMBOX1

CLU

Gene ID

79618

1191

Gene namehomeobox containing 1clusterin
SynonymsHNF1LA|HOT1|PBHNFAAG4|APO-J|APOJ|CLI|CLU1|CLU2|KUB1|NA1/NA2|SGP-2|SGP2|SP-40|TRPM-2|TRPM2
Cytomap

8p21.1-p12

8p21.1

Type of geneprotein-codingprotein-coding
Descriptionhomeobox-containing protein 1homeobox telomere-binding protein 1homeobox-containing protein PBHNFclusterinaging-associated protein 4apolipoprotein Jcomplement cytolysis inhibitorcomplement lysis inhibitorcomplement-associated protein SP-40,40ku70-binding protein 1sulfated glycoprotein 2testosterone-repressed prostate message 2
Modification date2018052020180527
UniProtAcc

Q6NT76

P10909

Ensembl transtripts involved in fusion geneENST00000403668, ENST00000444075, 
ENST00000287701, ENST00000558662, 
ENST00000523613, ENST00000397358, 
ENST00000519047, ENST00000355231, 
ENST00000524238, ENST00000517386, 
ENST00000316403, ENST00000546343, 
ENST00000560366, ENST00000405140, 
ENST00000523500, 
Fusion gene scores* DoF score8 X 6 X 6=28814 X 17 X 5=1190
# samples 818
** MAII scorelog2(8/288*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1190*10)=-2.72489276186563
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HMBOX1 [Title/Abstract] AND CLU [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneHMBOX1

GO:0000122

negative regulation of transcription by RNA polymerase II

21839858

HgeneHMBOX1

GO:0032212

positive regulation of telomere maintenance via telomerase

23685356

HgeneHMBOX1

GO:0045892

negative regulation of transcription, DNA-templated

19757162

HgeneHMBOX1

GO:0051973

positive regulation of telomerase activity

23685356

TgeneCLU

GO:0000902

cell morphogenesis

15857407

TgeneCLU

GO:0001774

microglial cell activation

15857407

TgeneCLU

GO:0017038

protein import

24446231

TgeneCLU

GO:0032463

negative regulation of protein homooligomerization

22179788|23106396

TgeneCLU

GO:0032464

positive regulation of protein homooligomerization

22179788

TgeneCLU

GO:0032760

positive regulation of tumor necrosis factor production

15857407

TgeneCLU

GO:0045429

positive regulation of nitric oxide biosynthetic process

15857407

TgeneCLU

GO:0050821

protein stabilization

11123922

TgeneCLU

GO:0051131

chaperone-mediated protein complex assembly

17412999

TgeneCLU

GO:0051788

response to misfolded protein

19996109

TgeneCLU

GO:0061077

chaperone-mediated protein folding

11123922

TgeneCLU

GO:0061518

microglial cell proliferation

15857407

TgeneCLU

GO:1900221

regulation of amyloid-beta clearance

24446231

TgeneCLU

GO:1901214

regulation of neuron death

17412999

TgeneCLU

GO:1901216

positive regulation of neuron death

15857407

TgeneCLU

GO:1902430

negative regulation of amyloid-beta formation

12047389|17412999

TgeneCLU

GO:1905907

negative regulation of amyloid fibril formation

22179788


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLGGTCGA-DU-A7TC-01AHMBOX1chr8

28748195

+CLUchr8

27468117

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5UTR-5UTRENST00000403668ENST00000316403HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000403668ENST00000546343HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000403668ENST00000560366HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000403668ENST00000405140HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000403668ENST00000523500HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000444075ENST00000316403HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000444075ENST00000546343HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000444075ENST00000560366HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000444075ENST00000405140HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000444075ENST00000523500HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000287701ENST00000316403HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000287701ENST00000546343HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000287701ENST00000560366HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000287701ENST00000405140HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000287701ENST00000523500HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000558662ENST00000316403HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000558662ENST00000546343HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000558662ENST00000560366HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000558662ENST00000405140HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000558662ENST00000523500HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000523613ENST00000316403HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000523613ENST00000546343HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000523613ENST00000560366HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000523613ENST00000405140HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000523613ENST00000523500HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000397358ENST00000316403HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000397358ENST00000546343HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000397358ENST00000560366HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000397358ENST00000405140HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000397358ENST00000523500HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000519047ENST00000316403HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000519047ENST00000546343HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000519047ENST00000560366HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000519047ENST00000405140HMBOX1chr8

28748195

+CLUchr8

27468117

-
5UTR-5UTRENST00000519047ENST00000523500HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000355231ENST00000316403HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000355231ENST00000546343HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000355231ENST00000560366HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000355231ENST00000405140HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000355231ENST00000523500HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000524238ENST00000316403HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000524238ENST00000546343HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000524238ENST00000560366HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000524238ENST00000405140HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000524238ENST00000523500HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000517386ENST00000316403HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000517386ENST00000546343HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000517386ENST00000560366HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000517386ENST00000405140HMBOX1chr8

28748195

+CLUchr8

27468117

-
intron-5UTRENST00000517386ENST00000523500HMBOX1chr8

28748195

+CLUchr8

27468117

-

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FusionProtFeatures for HMBOX1_CLU


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HMBOX1

Q6NT76

CLU

P10909

Transcription factor. Isoform 1 acts as atranscriptional repressor. Isoform 4 has very low activity as atranscriptional repressor. {ECO:0000269|PubMed:16825764,ECO:0000269|PubMed:19757162}. Isoform 1 functions as extracellular chaperone thatprevents aggregation of nonnative proteins. Prevents stress-induced aggregation of blood plasma proteins. Inhibits formationof amyloid fibrils by APP, APOC2, B2M, CALCA, CSN3, SNCA andaggregation-prone LYZ variants (in vitro). Does not require ATP.Maintains partially unfolded proteins in a state appropriate forsubsequent refolding by other chaperones, such as HSPA8/HSC70.Does not refold proteins by itself. Binding to cell surfacereceptors triggers internalization of the chaperone-client complexand subsequent lysosomal or proteasomal degradation. Secretedisoform 1 protects cells against apoptosis and against cytolysisby complement. Intracellular isoforms interact with ubiquitin andSCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligasecomplexes and promote the ubiquitination and subsequentproteasomal degradation of target proteins. Promotes proteasomaldegradation of COMMD1 and IKBKB. Modulates NF-kappa-Btranscriptional activity. Nuclear isoforms promote apoptosis.Mitochondrial isoforms suppress BAX-dependent release ofcytochrome c into the cytoplasm and inhibit apoptosis. Plays arole in the regulation of cell proliferation.{ECO:0000269|PubMed:11123922, ECO:0000269|PubMed:12047389,ECO:0000269|PubMed:12176985, ECO:0000269|PubMed:12551933,ECO:0000269|PubMed:12882985, ECO:0000269|PubMed:16113678,ECO:0000269|PubMed:17260971, ECO:0000269|PubMed:17407782,ECO:0000269|PubMed:17412999, ECO:0000269|PubMed:17689225,ECO:0000269|PubMed:19137541, ECO:0000269|PubMed:19535339,ECO:0000269|PubMed:19996109, ECO:0000269|PubMed:20068069,ECO:0000269|PubMed:21505792}.

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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FusionGeneSequence for HMBOX1_CLU


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for HMBOX1_CLU


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
HMBOX1APP, MDC1, ENTPD2, ATP5O, BYSL, CCNG1, DAB1, MFAP1, PRKAA1, PRKAA2, RPL9, SNRPB2, VPS72, PIP4K2B, FXR2, ZBTB24, KAT5, MRPL28, FARS2, MORF4L1, ZNF337, MAGEH1, ZNF581, FAM206A, UBA6, CBX8, SH2D4A, CARD9, MRPL11, UBE2Z, C8orf33, C20orf195, HMBOX1, SAP30L, FAM161A, LNX1, ZNF587, REEP6, SFR1, AEBP2, FRMD6, ASB7, DYNLL2, ZNF417, ZMAT2, RBMY2FP, TCEANC, FAM13C, PKD1P1, FAM74A4, MEMO1, MED23, DPF2, DSCC1, COBLL1, AMOTL1, IFFO1, FAM117A, CDADC1, WT1CLUCLU, TGFBR2, MMP25, XRCC6, C8B, C7, C9, LRP2, TGFBR1, SYVN1, H2AFX, COMMD1, NFKB1, NFKBIA, CUL1, BTRC, DISC1, TNIK, GRB2, RAD21, VHL, CHUK, TTR, BAX, CD209, XPO1, ACTN1, ZWINT, KATNA1, KNSTRN, SLC4A1, HBA1, CBY1, ELN, APP, LYZ, ATP7B, ATP7A, BCL2L1, CLUAP1, IL24, HSPD1, PRNP, PON1, FBXO6, PAXIP1, LIG4, MDC1, PDIA3, APOA1, POLR1C, BAG6, CYP2E1, MAPK9, RBBP8, KLF11, RPL23, KEAP1, TSC22D4, FOS, MDM2, CDK19, HSPA1L, NUCB2, TUBB6, TUFM, HSPA5, HSP90B1, HYOU1, UBC, EGFR, RPE, HLA-DPA1, HAX1, CCND3, DPPA4, IL20RB, SUMF2, GPR180, GINM1, SDF4, MMP3, RASSF7, TNF, RNASE13, IFNA5, PLK1, EPPIN, LTF, SEMG1, ADCYAP1R1, SRPK2, CANX, PDGFRA, ARMC6, TUBGCP5, FXR1, SETX, DOCK6, GPAM, ATG3, MAP1LC3A, MCM2, MMP9, VEGFA, SDK2, ATP2B2, PTPRS, TENM3, FAT4, FBXO27, CBWD3, KIAA0355, DHX57, ITGA8, EDEM2, MANEA, DDX31, ARHGAP36, EXTL2, TOR1A, MAN1A1, TNFSF9, PCYOX1L, PTPRF, GNB2, MAN1A2, CELSR1, NLGN2, TXNDC11, INTS5, PCYOX1, MTMR9, OCIAD1, LMAN2L, EIF3F


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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RelatedDrugs for HMBOX1_CLU


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCLUP10909DB01593ZincClusterinsmall moleculeapproved|investigational

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RelatedDiseases for HMBOX1_CLU


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCLUC2609414Acute kidney injury5CTD_human
TgeneCLUC0002395Alzheimer's Disease3CTD_human
TgeneCLUC0022658Kidney Diseases3CTD_human
TgeneCLUC0029408Degenerative polyarthritis2CTD_human
TgeneCLUC0024141Lupus Erythematosus, Systemic1CTD_human
TgeneCLUC0025202melanoma1CTD_human
TgeneCLUC0027686Pathologic Neovascularization1CTD_human
TgeneCLUC0033578Prostatic Neoplasms1CTD_human
TgeneCLUC0036341Schizophrenia1PSYGENET
TgeneCLUC0036572Seizures1CTD_human
TgeneCLUC0041755Adverse reaction to drug1CTD_human
TgeneCLUC0333641Atrophic1CTD_human
TgeneCLUC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
TgeneCLUC3495559Juvenile arthritis1CTD_human
TgeneCLUC4277682Chemical and Drug Induced Liver Injury1CTD_human