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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: 16547

FusionGeneSummary for HNRNPAB_F12

check button Fusion gene summary
Fusion gene informationFusion gene name: HNRNPAB_F12
Fusion gene ID: 16547
HgeneTgene
Gene symbol

HNRNPAB

F12

Gene ID

3182

2161

Gene nameheterogeneous nuclear ribonucleoprotein A/Bcoagulation factor XII
SynonymsABBP1|HNRPABHAE3|HAEX|HAF
Cytomap

5q35.3

5q35.3

Type of geneprotein-codingprotein-coding
Descriptionheterogeneous nuclear ribonucleoprotein A/BABBP-1APOBEC1-binding protein 1apobec-1 binding protein 1apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1-binding protein 1hnRNP A/BhnRNP type A/B proteincoagulation factor XIIHageman factorbeta-factor XIIa part 1beta-factor XIIa part 2coagulation factor XIIa heavy chaincoagulation factor XIIa light chain
Modification date2018052320180523
UniProtAcc

Q99729

P00748

Ensembl transtripts involved in fusion geneENST00000358344, ENST00000506339, 
ENST00000355836, ENST00000514633, 
ENST00000515193, ENST00000506259, 
ENST00000504898, 
ENST00000253496, 
ENST00000514943, 
Fusion gene scores* DoF score6 X 6 X 3=1082 X 2 X 2=8
# samples 62
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: HNRNPAB [Title/Abstract] AND F12 [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
TgeneF12

GO:0002353

plasma kallikrein-kinin cascade

6793628|18725990

TgeneF12

GO:0002542

Factor XII activation

18725990

TgeneF12

GO:0010756

positive regulation of plasminogen activation

89876

TgeneF12

GO:0016485

protein processing

18725990

TgeneF12

GO:0016540

protein autoprocessing

18725990

TgeneF12

GO:0030194

positive regulation of blood coagulation

6793628

TgeneF12

GO:0031638

zymogen activation

89876|6793628|18725990

TgeneF12

GO:0051788

response to misfolded protein

18725990

TgeneF12

GO:0051919

positive regulation of fibrinolysis

89876


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
TCGALDBRCATCGA-E2-A15M-01AHNRNPABchr5

177638027

+F12chr5

176831971

-
* 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
3UTR-intronENST00000358344ENST00000253496HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000358344ENST00000514943HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000506339ENST00000253496HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000506339ENST00000514943HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000355836ENST00000253496HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000355836ENST00000514943HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000514633ENST00000253496HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000514633ENST00000514943HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000515193ENST00000253496HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000515193ENST00000514943HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000506259ENST00000253496HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000506259ENST00000514943HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000504898ENST00000253496HNRNPABchr5

177638027

+F12chr5

176831971

-
3UTR-intronENST00000504898ENST00000514943HNRNPABchr5

177638027

+F12chr5

176831971

-

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FusionProtFeatures for HNRNPAB_F12


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

Q99729

F12

P00748

Binds single-stranded RNA. Has a high affinity for G-rich and U-rich regions of hnRNA. Also binds to APOB mRNAtranscripts around the RNA editing site. Factor XII is a serum glycoprotein that participates inthe initiation of blood coagulation, fibrinolysis, and thegeneration of bradykinin and angiotensin. Prekallikrein is cleavedby factor XII to form kallikrein, which then cleaves factor XIIfirst to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa.{ECO:0000269|PubMed:21304106}.

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 HNRNPAB_F12


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 HNRNPAB_F12


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
HNRNPABTP63, CNBP, AES, ARHGDIA, HNRNPA1, MEPCE, POLR3D, ELAVL2, HOXC13, HOXD4, RBFOX2, DEDD2, H2AFX, VHL, SF3A2, CUL3, CUL4A, CUL4B, CUL5, CUL2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, NEDD8, MRPS18B, HNRNPA2B1, MRPS7, MRPS25, HNRNPA0, SNAP23, ATP6AP1, ESR1, SMURF1, FN1, PTBP1, PTBP2, IFIT2, IFIT3, IL7R, UBL4A, ITGA4, USP19, PAN2, HMGA1, TARDBP, LDHB, YBX1, RPA1, RPA2, RPA3, ERG, HSPA5, DROSHA, LIN28A, IVNS1ABP, STAU1, SHMT2, MOV10, NXF1, HIST3H3, CUL7, OBSL1, EZH2, EED, RNF2, BTRC, FBXW11, UNK, AHNAK, EIF4EBP1, HNRNPA3, HNRNPD, HNRNPH1, HSD17B10, UBE2G2, NTRK1, SCARNA22, EWSR1, HNRNPU, PTTG1, EMC2, SYNCRIP, SGOL1, MCM2, SNW1, ERBB3, U2AF2, CRBN, CYLD, COX15, DNM1L, PDHA1, SOD1, TRIM25, G3BP1, BRCA1, HIST1H3AF12GP1BA, EPAS1, HIF1A, PJA1, AMBRA1, NUDCD1, KIAA0391, F12, UBE2D1, UBE2D2, UBE2D3, UBE2E1, UBE2N, ANKRD40, HSPA8


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 HNRNPAB_F12


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneF12P00748DB06404Human C1-esterase inhibitorCoagulation factor XIIbiotechapproved
TgeneF12P00748DB06689Ethanolamine OleateCoagulation factor XIIsmall moleculeapproved
TgeneF12P00748DB01593ZincCoagulation factor XIIsmall moleculeapproved|investigational
TgeneF12P00748DB09228Conestat alfaCoagulation factor XIIbiotechapproved|investigational

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RelatedDiseases for HNRNPAB_F12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHNRNPABC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneF12C0015526Factor XII Deficiency8CTD_human;HPO;ORPHANET;UNIPROT
TgeneF12C1857728Hereditary Angioedema Type III2CTD_human;ORPHANET;UNIPROT
TgeneF12C0019243Angioedemas, Hereditary1CTD_human
TgeneF12C0020538Hypertensive disease1CTD_human
TgeneF12C0023904Liver Neoplasms, Experimental1CTD_human
TgeneF12C0040038Thromboembolism1CTD_human