FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 16174

FusionGeneSummary for HIF1A_CD63

check button Fusion gene summary
Fusion gene informationFusion gene name: HIF1A_CD63
Fusion gene ID: 16174
HgeneTgene
Gene symbol

HIF1A

CD63

Gene ID

3091

967

Gene namehypoxia inducible factor 1 subunit alphaCD63 molecule
SynonymsHIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78LAMP-3|ME491|MLA1|OMA81H|TSPAN30
Cytomap

14q23.2

12q13.2

Type of geneprotein-codingprotein-coding
Descriptionhypoxia-inducible factor 1-alphaARNT interacting proteinPAS domain-containing protein 8basic-helix-loop-helix-PAS protein MOP1class E basic helix-loop-helix protein 78hypoxia inducible factor 1 alpha subunithypoxia inducible factor 1, alpha subunit CD63 antigenCD63 antigen (melanoma 1 antigen)granulophysinlysosomal-associated membrane protein 3lysosome-associated membrane glycoprotein 3melanoma-associated antigen ME491melanoma-associated antigen MLA1ocular melanoma-associated antigentetraspa
Modification date2018052720180527
UniProtAcc

Q16665

P08962

Ensembl transtripts involved in fusion geneENST00000394997, ENST00000337138, 
ENST00000323441, ENST00000557538, 
ENST00000539097, ENST00000557206, 
ENST00000548898, ENST00000552067, 
ENST00000420846, ENST00000548160, 
ENST00000546939, ENST00000552692, 
ENST00000549117, ENST00000257857, 
ENST00000552754, ENST00000550776, 
Fusion gene scores* DoF score9 X 8 X 7=5045 X 4 X 5=100
# samples 136
** MAII scorelog2(13/504*10)=-1.95491211047146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HIF1A [Title/Abstract] AND CD63 [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
HgeneHIF1A

GO:0001666

response to hypoxia

8756616|9887100|11782478|15261140|18419598

HgeneHIF1A

GO:0006355

regulation of transcription, DNA-templated

11782478|15261140

HgeneHIF1A

GO:0010468

regulation of gene expression

18419598

HgeneHIF1A

GO:0010573

vascular endothelial growth factor production

12958148

HgeneHIF1A

GO:0010575

positive regulation of vascular endothelial growth factor production

8756616

HgeneHIF1A

GO:0010628

positive regulation of gene expression

15459207|24244340

HgeneHIF1A

GO:0032364

oxygen homeostasis

16956324

HgeneHIF1A

GO:0043619

regulation of transcription from RNA polymerase II promoter in response to oxidative stress

8089148|8387214

HgeneHIF1A

GO:0045893

positive regulation of transcription, DNA-templated

8089148|9887100

HgeneHIF1A

GO:0045944

positive regulation of transcription by RNA polymerase II

11573933|25043030

HgeneHIF1A

GO:0046886

positive regulation of hormone biosynthetic process

1448077

HgeneHIF1A

GO:0061419

positive regulation of transcription from RNA polymerase II promoter in response to hypoxia

22735262

HgeneHIF1A

GO:0071456

cellular response to hypoxia

11573933|19528298|20889502

HgeneHIF1A

GO:1903377

negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway

24899725

TgeneCD63

GO:0034613

cellular protein localization

15647390

TgeneCD63

GO:1901379

regulation of potassium ion transmembrane transport

15647390


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
ChiTaRS3.1BP330336HIF1Achr14

62187177

+CD63chr12

56122794

-
* 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
5CDS-intronENST00000394997ENST00000548898HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000394997ENST00000552067HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-5UTRENST00000394997ENST00000420846HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000394997ENST00000548160HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000394997ENST00000546939HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000394997ENST00000552692HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000394997ENST00000549117HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-5UTRENST00000394997ENST00000257857HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000394997ENST00000552754HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000394997ENST00000550776HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000337138ENST00000548898HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000337138ENST00000552067HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-5UTRENST00000337138ENST00000420846HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000337138ENST00000548160HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000337138ENST00000546939HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000337138ENST00000552692HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000337138ENST00000549117HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-5UTRENST00000337138ENST00000257857HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000337138ENST00000552754HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000337138ENST00000550776HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000323441ENST00000548898HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000323441ENST00000552067HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-5UTRENST00000323441ENST00000420846HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000323441ENST00000548160HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000323441ENST00000546939HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000323441ENST00000552692HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000323441ENST00000549117HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-5UTRENST00000323441ENST00000257857HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000323441ENST00000552754HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000323441ENST00000550776HIF1Achr14

62187177

+CD63chr12

56122794

-
5UTR-intronENST00000557538ENST00000548898HIF1Achr14

62187177

+CD63chr12

56122794

-
5UTR-intronENST00000557538ENST00000552067HIF1Achr14

62187177

+CD63chr12

56122794

-
5UTR-5UTRENST00000557538ENST00000420846HIF1Achr14

62187177

+CD63chr12

56122794

-
5UTR-intronENST00000557538ENST00000548160HIF1Achr14

62187177

+CD63chr12

56122794

-
5UTR-intronENST00000557538ENST00000546939HIF1Achr14

62187177

+CD63chr12

56122794

-
5UTR-intronENST00000557538ENST00000552692HIF1Achr14

62187177

+CD63chr12

56122794

-
5UTR-intronENST00000557538ENST00000549117HIF1Achr14

62187177

+CD63chr12

56122794

-
5UTR-5UTRENST00000557538ENST00000257857HIF1Achr14

62187177

+CD63chr12

56122794

-
5UTR-intronENST00000557538ENST00000552754HIF1Achr14

62187177

+CD63chr12

56122794

-
5UTR-intronENST00000557538ENST00000550776HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000539097ENST00000548898HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000539097ENST00000552067HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-5UTRENST00000539097ENST00000420846HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000539097ENST00000548160HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000539097ENST00000546939HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000539097ENST00000552692HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000539097ENST00000549117HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-5UTRENST00000539097ENST00000257857HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000539097ENST00000552754HIF1Achr14

62187177

+CD63chr12

56122794

-
5CDS-intronENST00000539097ENST00000550776HIF1Achr14

62187177

+CD63chr12

56122794

-
3UTR-intronENST00000557206ENST00000548898HIF1Achr14

62187177

+CD63chr12

56122794

-
3UTR-intronENST00000557206ENST00000552067HIF1Achr14

62187177

+CD63chr12

56122794

-
3UTR-5UTRENST00000557206ENST00000420846HIF1Achr14

62187177

+CD63chr12

56122794

-
3UTR-intronENST00000557206ENST00000548160HIF1Achr14

62187177

+CD63chr12

56122794

-
3UTR-intronENST00000557206ENST00000546939HIF1Achr14

62187177

+CD63chr12

56122794

-
3UTR-intronENST00000557206ENST00000552692HIF1Achr14

62187177

+CD63chr12

56122794

-
3UTR-intronENST00000557206ENST00000549117HIF1Achr14

62187177

+CD63chr12

56122794

-
3UTR-5UTRENST00000557206ENST00000257857HIF1Achr14

62187177

+CD63chr12

56122794

-
3UTR-intronENST00000557206ENST00000552754HIF1Achr14

62187177

+CD63chr12

56122794

-
3UTR-intronENST00000557206ENST00000550776HIF1Achr14

62187177

+CD63chr12

56122794

-

Top

FusionProtFeatures for HIF1A_CD63


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HIF1A

Q16665

CD63

P08962

Functions as a master transcriptional regulator of theadaptive response to hypoxia. Under hypoxic conditions, activatesthe transcription of over 40 genes, including erythropoietin,glucose transporters, glycolytic enzymes, vascular endothelialgrowth factor, HILPDA, and other genes whose protein productsincrease oxygen delivery or facilitate metabolic adaptation tohypoxia. Plays an essential role in embryonic vascularization,tumor angiogenesis and pathophysiology of ischemic disease.Heterodimerizes with ARNT; heterodimer binds to core DNA sequence5'-TACGTG-3' within the hypoxia response element (HRE) of targetgene promoters (By similarity). Activation requires recruitment oftranscriptional coactivators such as CREBBP and EP300. Activity isenhanced by interaction with both, NCOA1 or NCOA2. Interactionwith redox regulatory protein APEX seems to activate CTAD andpotentiates activation by NCOA1 and CREBBP. Involved in the axonaldistribution and transport of mitochondria in neurons duringhypoxia. {ECO:0000250|UniProtKB:Q61221,ECO:0000269|PubMed:11292861, ECO:0000269|PubMed:11566883,ECO:0000269|PubMed:15465032, ECO:0000269|PubMed:16543236,ECO:0000269|PubMed:16973622, ECO:0000269|PubMed:17610843,ECO:0000269|PubMed:19528298, ECO:0000269|PubMed:20624928,ECO:0000269|PubMed:22009797, ECO:0000269|PubMed:9887100}. Functions as cell surface receptor for TIMP1 and plays arole in the activation of cellular signaling cascades. Plays arole in the activation of ITGB1 and integrin signaling, leading tothe activation of AKT, FAK/PTK2 and MAP kinases. Promotes cellsurvival, reorganization of the actin cytoskeleton, cell adhesion,spreading and migration, via its role in the activation of AKT andFAK/PTK2. Plays a role in VEGFA signaling via its role inregulating the internalization of KDR/VEGFR2. Plays a role inintracellular vesicular transport processes, and is required fornormal trafficking of the PMEL luminal domain that is essentialfor the development and maturation of melanocytes. Plays a role inthe adhesion of leukocytes onto endothelial cells via its role inthe regulation of SELP trafficking. May play a role in mast celldegranulation in response to Ms4a2/FceRI stimulation, but not inmast cell degranulation in response to other stimuli.{ECO:0000269|PubMed:16917503, ECO:0000269|PubMed:21803846,ECO:0000269|PubMed:21962903, ECO:0000269|PubMed:23632027,ECO:0000269|PubMed:24635319}.

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


Top

FusionGeneSequence for HIF1A_CD63


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).

Top

FusionGenePPI for HIF1A_CD63


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


Top

RelatedDrugs for HIF1A_CD63


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHIF1AQ16665DB01136CarvedilolHypoxia-inducible factor 1-alpha {ECO:0000303|PubMed:7539918}small moleculeapproved|investigational

Top

RelatedDiseases for HIF1A_CD63


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHIF1AC0027055Myocardial Reperfusion Injury2CTD_human
HgeneHIF1AC0002793Anaplasia1CTD_human
HgeneHIF1AC0004114Astrocytoma1CTD_human
HgeneHIF1AC0005586Bipolar Disorder1PSYGENET
HgeneHIF1AC0007124Noninfiltrating Intraductal Carcinoma1CTD_human
HgeneHIF1AC0007786Brain Ischemia1CTD_human
HgeneHIF1AC0008313Cholangitis, Sclerosing1CTD_human
HgeneHIF1AC0011570Mental Depression1PSYGENET
HgeneHIF1AC0017636Glioblastoma1CTD_human
HgeneHIF1AC0018798Congenital Heart Defects1CTD_human
HgeneHIF1AC0018800Cardiomegaly1CTD_human
HgeneHIF1AC0018801Heart failure1CTD_human
HgeneHIF1AC0020507Hyperplasia1CTD_human
HgeneHIF1AC0020538Hypertensive disease1CTD_human
HgeneHIF1AC0020542Pulmonary Hypertension1CTD_human
HgeneHIF1AC0023892Biliary cirrhosis1CTD_human
HgeneHIF1AC0024115Lung diseases1CTD_human
HgeneHIF1AC0027626Neoplasm Invasiveness1CTD_human
HgeneHIF1AC0030297Pancreatic Neoplasm1CTD_human
HgeneHIF1AC0033578Prostatic Neoplasms1CTD_human
HgeneHIF1AC0037286Skin Neoplasms1CTD_human
HgeneHIF1AC0040136Thyroid Neoplasm1CTD_human
HgeneHIF1AC0041696Unipolar Depression1PSYGENET
HgeneHIF1AC0206734Hemangioblastoma1CTD_human
HgeneHIF1AC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneHIF1AC0342257Complications of Diabetes Mellitus1CTD_human
HgeneHIF1AC0525045Mood Disorders1PSYGENET
HgeneHIF1AC0752308Hypoxia-Ischemia, Brain1CTD_human
HgeneHIF1AC1176475Ductal Carcinoma1CTD_human
HgeneHIF1AC1269683Major Depressive Disorder1PSYGENET
HgeneHIF1AC1449861Micronuclei, Chromosome-Defective1CTD_human
HgeneHIF1AC1458155Mammary Neoplasms1CTD_human
TgeneCD63C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCD63C0023904Liver Neoplasms, Experimental1CTD_human