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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: 7858

FusionGeneSummary for COL18A1_HSPA5

check button Fusion gene summary
Fusion gene informationFusion gene name: COL18A1_HSPA5
Fusion gene ID: 7858
HgeneTgene
Gene symbol

COL18A1

HSPA5

Gene ID

80781

3309

Gene namecollagen type XVIII alpha 1 chainheat shock protein family A (Hsp70) member 5
SynonymsKNO|KNO1|KSBIP|GRP78|HEL-S-89n|MIF2
Cytomap

21q22.3

9q33.3

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(XVIII) chainantiangiogenic agentcollagen alpha-1(XVIII) chain isoform 1 preproproteincollagen, type XVIII, alpha 1endostatinmulti-functional protein MFPendoplasmic reticulum chaperone BiP78 kDa glucose-regulated proteinHSP70 family protein 5binding-immunoglobulin proteinendoplasmic reticulum lumenal Ca(2+)-binding protein grp78epididymis secretory sperm binding protein Li 89nglucose-regulated prote
Modification date2018052320180527
UniProtAcc

P39060

P11021

Ensembl transtripts involved in fusion geneENST00000400337, ENST00000355480, 
ENST00000359759, ENST00000459895, 
ENST00000324460, 
Fusion gene scores* DoF score8 X 8 X 6=3845 X 5 X 2=50
# samples 85
** MAII scorelog2(8/384*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/50*10)=0
Context

PubMed: COL18A1 [Title/Abstract] AND HSPA5 [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
TgeneHSPA5

GO:0042149

cellular response to glucose starvation

10085239


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
TCGARVHNSCTCGA-CV-7418-01ACOL18A1chr21

46932177

+HSPA5chr9

128003622

-
* 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-intronENST00000400337ENST00000324460COL18A1chr21

46932177

+HSPA5chr9

128003622

-
5CDS-intronENST00000355480ENST00000324460COL18A1chr21

46932177

+HSPA5chr9

128003622

-
5CDS-intronENST00000359759ENST00000324460COL18A1chr21

46932177

+HSPA5chr9

128003622

-
intron-intronENST00000459895ENST00000324460COL18A1chr21

46932177

+HSPA5chr9

128003622

-

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FusionProtFeatures for COL18A1_HSPA5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL18A1

P39060

HSPA5

P11021

Endoplasmic reticulum chaperone that plays a key role inprotein folding and quality control in the endoplasmic reticulumlumen (PubMed:2294010, PubMed:23769672, PubMed:23990668,PubMed:28332555). Involved in the correct folding of proteins anddegradation of misfolded proteins via its interaction withDNAJC10/ERdj5, probably to facilitate the release of DNAJC10/ERdj5from its substrate (By similarity). Acts as a key repressor of theERN1/IRE1-mediated unfolded protein response (UPR)(PubMed:1550958, PubMed:19538957). In the unstressed endoplasmicreticulum, recruited by DNAJB9/ERdj4 to the luminal region ofERN1/IRE1, leading to disrupt the dimerization of ERN1/IRE1,thereby inactivating ERN1/IRE1 (By similarity). Accumulation ofmisfolded protein in the endoplasmic reticulum causes release ofHSPA5/BiP from ERN1/IRE1, allowing homodimerization and subsequentactivation of ERN1/IRE1 (By similarity).{ECO:0000250|UniProtKB:G3I8R9, ECO:0000250|UniProtKB:P20029,ECO:0000269|PubMed:1550958, ECO:0000269|PubMed:19538957,ECO:0000269|PubMed:2294010, ECO:0000269|PubMed:23769672,ECO:0000269|PubMed:23990668, ECO:0000269|PubMed:28332555}.

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 COL18A1_HSPA5


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 COL18A1_HSPA5


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
COL18A1KDR, TECPR1, HNRNPD, FBXO6, TUBG1, FUS, TAZ, C1QTNF9, TMEM25, PTCH1, SIAE, COL8A2, LIPH, OLFM4, ITCH, PLOD1, MMP2, CRP, MMP9, DEFA1, TRIM11, C1QL4, APPHSPA5DPH1, TCERG1, ERN1, DDX24, PSME3, BCAR1, LCT, SIL1, CASP7, CASP12, TMEM132A, VWF, EIF2AK3, KRT8, A2M, TSHR, HLA-C, LDLR, TG, DNAJC10, UBQLN4, MEPCE, RUVBL2, CDK9, POLR3H, GRB2, SREBF2, APC, H2AFX, AIRE, HDAC6, TADA2A, DNMT1, CBL, HAX1, YY1, UCHL5, SNW1, AGO4, DGCR8, HDAC5, SPG20, DYRK2, YWHAB, SIRT1, SIRT3, INSIG2, TP53, SYVN1, AMFR, PAWR, PSMA3, RAF1, RNF146, NDRG1, SH3BP4, FCHSD2, ARRB1, ARRB2, OS9, FBXO25, ERLEC1, PPP1CC, PSMA2, APOB, CUL3, CUL4A, CUL4B, CUL5, CUL2, CDK2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, NEDD8, KCND3, PWP1, RPN1, AKT1, TMEM67, INPPL1, UBASH3B, SHC1, CRK, EPS15, SFTPC, DNAJB9, HSPA8, HSPD1, HSPA4, HSPA1L, P4HB, HSP90B1, HSP90AB1, ILF3, SNRNP70, SRRM2, YBX1, HNRNPUL1, HNRNPF, HNRNPA3, ILF2, SNRPD1, SART1, PDIA3, RPSA, PPIB, HSPA6, PDIA6, PSMD1, SURF4, RAB14, SSBP1, LAMTOR5, HNRNPUL2, IQGAP1, RAB11A, RPL8, SERPINH1, DNAJC19, RAB7A, MYH10, RPLP1, EIF4A1, ATP5A1, KPNB1, SPTAN1, RPS25, HNRNPL, XRCC6, MYH9, RPS3, IST1, LPP, STOML2, BASP1, AHCYL1, RMDN3, SPTBN1, RPS16, LGALS1, HSPA1A, UBC, ASGR1, EGFR, SMURF1, FMNL1, VCP, HSP90AA1, HSPBP1, PRNP, SSR1, FN1, CDH1, TP63, BRAF, IQCB1, MTNR1A, NOS2, SEC61A1, MAP1LC3A, CAMKMT, EEF2KMT, METTL18, METTL20, METTL21A, METTL21B, METTL21C, METTL22, METTL23, UBL4A, ZSWIM7, PAK2, NCK1, AICDA, PAN2, NPM1, MAPK7, ADRB2, PIK3C3, CPT1A, ID2, KRT14, VHL, FBXO6, TARDBP, TOPBP1, TRAP1, PARK2, HLA-B, CLNS1A, DCPS, MSN, TUBB4A, VCL, RAP1GDS1, TUBA4A, TUBA4B, TXNRD1, UBXN1, RPA1, RPA2, RPA3, HNRNPDL, CALU, HNRNPA1, HSPA5, GFAP, PRKCSH, HNRNPA2B1, HNRNPH3, HNRNPH1, FUS, HNRNPH2, ACTB, RPL23, ACTG1, HNRNPU, EWSR1, NUCB1, HNRNPD, RCN2, RCN1, HNRNPA1L2, PPP4R4, TFG, HNRNPAB, SDF4, DNAJB11, CLU, STAU1, AURKA, AURKB, CDC20, CDKN1A, CEP250, CEP57, HAUS2, CEP70, CEP76, LGALS3BP, MAGED2, TUBG1, TUBGCP2, TUBGCP3, TUBGCP4, GPX7, HUWE1, EP300, RELA, ERLIN2, SHMT2, MOV10, NXF1, CUL7, OBSL1, CCDC8, EED, FAM187B, INHA, KLK3, COLEC11, IDS, GLB1L3, ITLN1, UPK3B, ANTXR1, CLEC18A, ACP5, TMEM25, GLT8D2, IL12RB1, LDHAL6B, PRSS50, FBLN7, SERPINB11, TOR3A, PTCH1, WNT3A, ISLR, NAPSA, ASTL, WNT4, WNT9B, NYX, SPACA4, PON2, CCNJL, RPS6KB2, HSPB1, SERPINA1, AMBRA1, DHX9, DNAJA2, DNAJC17, DNAJC2, DNAJC7, DNAJC8, DNAJC9, HNRNPR, DNAJA1, DNAJA4, PTBP1, MAP4, OSGEP, PACSIN3, REXO2, SFN, STIP1, SUB1, TMOD3, TXN, UBL7, NTRK1, NCOA1, TCTN2, TCTN3, TCTN1, HIST1H3E, AHSA1, CAD, SEPT7, CPS1, CSE1L, CTNNA1, EIF4G1, EIF4G2, FASN, HELLS, DVL2, CKAP5, ING3, ENTHD2, DNAJB1, STMN1, SEPT2, PDE3A, PRKDC, PSMC5, ZBTB25, BAG6, TAGLN2, BAG2, NCOR2, RNF40, STUB1, HYOU1, SEPT9, HSPH1, TRAFD1, DNAJB4, HSPA4L, AAK1, PALLD, SEPT6, FAF2, NUP62, EDC4, TIMM13, GHITM, N6AMT1, ABCF3, CDKN2AIP, CEP72, XPO5, ANO3, CRTC3, AHNAK, KNSTRN, TMEM263, FNIP1, SEPT10, LAMA1, UBE3A, SKI, CRY1, ALKBH3, TRIM29, MCM2, PRDM1, CDC5L, SQSTM1, DNAJC1, SEC63, DNAJC3, MEX3C, OTUB1, ERBB3, ESRRB, CDC37, U2AF2, RC3H1, SEL1L, NFATC1, NFATC2, CDC73, WWP2, PTPRN, PTPRN2, VIT, ANGPTL2, PODN, SYPL2, CSN1S1, PCDHA10, HAPLN3, SCGB1D4, KIAA2013, WNT7A, WNT2, INHBE, RETN, KIAA1161, CPA5, DHH, VSIG8, PRSS2, DPEP3, CPA2, TSHB, FUCA2, VWCE, ITGA9, SCGB1D1, EPHA7, SPACA3, GLB1L2, MPPE1, SIGLEC12, SDF2, NPB, EFEMP1, LRP1, AGT, LRRC32, SERPINF1, LOXL3, ARSI, INSL6, PROZ, B4GALT4, NRROS, P4HA3, SIGLEC10, EPPIN, ST3GAL2, ADAMTS18, ASGR2, TEPP, LYPD1, HLA-DRB5, HMP19, GNRH1, HS3ST2, TINAG, BMP1, EGFL6, ADAM21, LYZL2, DNASE1L2, GLIPR1, MAPRE1, VIM, MTNR1B, CYLD, EDEM3, TRIM25, UBE2S, ESR1, HEY1, BRCA1, DCAF4L2, SERPINB5


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 COL18A1_HSPA5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHSPA5P11021DB00025Antihemophilic factor, human recombinantEndoplasmic reticulum chaperone BiP {ECO:0000305}biotechapproved|investigational
TgeneHSPA5P11021DB00945Acetylsalicylic acidEndoplasmic reticulum chaperone BiP {ECO:0000305}small moleculeapproved|vet_approved

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RelatedDiseases for COL18A1_HSPA5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL18A1C0006663Calcinosis1CTD_human
HgeneCOL18A1C0018824Heart valve disease1CTD_human
HgeneCOL18A1C0018923Hemangiosarcoma1CTD_human
HgeneCOL18A1C3714756Intellectual Disability1CTD_human
TgeneHSPA5C0003949Asbestosis1CTD_human
TgeneHSPA5C0005586Bipolar Disorder1PSYGENET
TgeneHSPA5C0023473Myeloid Leukemia, Chronic1CTD_human
TgeneHSPA5C0027051Myocardial Infarction1CTD_human
TgeneHSPA5C0028754Obesity1CTD_human
TgeneHSPA5C0035228Respiratory Hypersensitivity1CTD_human
TgeneHSPA5C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneHSPA5C0376545Hematologic Neoplasms1CTD_human
TgeneHSPA5C0853193Bipolar I disorder1PSYGENET
TgeneHSPA5C1846707SPINOCEREBELLAR ATAXIA 171CTD_human
TgeneHSPA5C2239176Liver carcinoma1CTD_human