|
Fusion gene ID: 16547 |
FusionGeneSummary for HNRNPAB_F12 |
Fusion gene summary |
Fusion gene information | Fusion gene name: HNRNPAB_F12 | Fusion gene ID: 16547 | Hgene | Tgene | Gene symbol | HNRNPAB | F12 | Gene ID | 3182 | 2161 |
Gene name | heterogeneous nuclear ribonucleoprotein A/B | coagulation factor XII | |
Synonyms | ABBP1|HNRPAB | HAE3|HAEX|HAF | |
Cytomap | 5q35.3 | 5q35.3 | |
Type of gene | protein-coding | protein-coding | |
Description | heterogeneous 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 protein | coagulation factor XIIHageman factorbeta-factor XIIa part 1beta-factor XIIa part 2coagulation factor XIIa heavy chaincoagulation factor XIIa light chain | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q99729 | P00748 | |
Ensembl transtripts involved in fusion gene | ENST00000358344, ENST00000506339, ENST00000355836, ENST00000514633, ENST00000515193, ENST00000506259, ENST00000504898, | ENST00000253496, ENST00000514943, | |
Fusion gene scores | * DoF score | 6 X 6 X 3=108 | 2 X 2 X 2=8 |
# samples | 6 | 2 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | F12 | GO:0002353 | plasma kallikrein-kinin cascade | 6793628|18725990 |
Tgene | F12 | GO:0002542 | Factor XII activation | 18725990 |
Tgene | F12 | GO:0010756 | positive regulation of plasminogen activation | 89876 |
Tgene | F12 | GO:0016485 | protein processing | 18725990 |
Tgene | F12 | GO:0016540 | protein autoprocessing | 18725990 |
Tgene | F12 | GO:0030194 | positive regulation of blood coagulation | 6793628 |
Tgene | F12 | GO:0031638 | zymogen activation | 89876|6793628|18725990 |
Tgene | F12 | GO:0051788 | response to misfolded protein | 18725990 |
Tgene | F12 | GO:0051919 | positive regulation of fibrinolysis | 89876 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | BRCA | TCGA-E2-A15M-01A | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
3UTR-intron | ENST00000358344 | ENST00000253496 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000358344 | ENST00000514943 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000506339 | ENST00000253496 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000506339 | ENST00000514943 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000355836 | ENST00000253496 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000355836 | ENST00000514943 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000514633 | ENST00000253496 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000514633 | ENST00000514943 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000515193 | ENST00000253496 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000515193 | ENST00000514943 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000506259 | ENST00000253496 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000506259 | ENST00000514943 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000504898 | ENST00000253496 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
3UTR-intron | ENST00000504898 | ENST00000514943 | HNRNPAB | chr5 | 177638027 | + | F12 | chr5 | 176831971 | - |
Top |
FusionProtFeatures for HNRNPAB_F12 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
HNRNPAB | F12 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for HNRNPAB_F12 |
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 HNRNPAB_F12 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
HNRNPAB | TP63, 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, HIST1H3A | F12 | GP1BA, EPAS1, HIF1A, PJA1, AMBRA1, NUDCD1, KIAA0391, F12, UBE2D1, UBE2D2, UBE2D3, UBE2E1, UBE2N, ANKRD40, HSPA8 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for HNRNPAB_F12 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | F12 | P00748 | DB06404 | Human C1-esterase inhibitor | Coagulation factor XII | biotech | approved |
Tgene | F12 | P00748 | DB06689 | Ethanolamine Oleate | Coagulation factor XII | small molecule | approved |
Tgene | F12 | P00748 | DB01593 | Zinc | Coagulation factor XII | small molecule | approved|investigational |
Tgene | F12 | P00748 | DB09228 | Conestat alfa | Coagulation factor XII | biotech | approved|investigational |
Top |
RelatedDiseases for HNRNPAB_F12 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HNRNPAB | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Tgene | F12 | C0015526 | Factor XII Deficiency | 8 | CTD_human;HPO;ORPHANET;UNIPROT |
Tgene | F12 | C1857728 | Hereditary Angioedema Type III | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | F12 | C0019243 | Angioedemas, Hereditary | 1 | CTD_human |
Tgene | F12 | C0020538 | Hypertensive disease | 1 | CTD_human |
Tgene | F12 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
Tgene | F12 | C0040038 | Thromboembolism | 1 | CTD_human |