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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:AKAP9-RUNX1 (FusionGDB2 ID:HG10142TG861) |
Fusion Gene Summary for AKAP9-RUNX1 |
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Fusion gene information | Fusion gene name: AKAP9-RUNX1 | Fusion gene ID: hg10142tg861 | Hgene | Tgene | Gene symbol | AKAP9 | RUNX1 | Gene ID | 10142 | 861 |
Gene name | A-kinase anchoring protein 9 | RUNX family transcription factor 1 | |
Synonyms | AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO | AML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha | |
Cytomap | ('AKAP9')('RUNX1') 7q21.2 | 21q22.12 | |
Type of gene | protein-coding | protein-coding | |
Description | A-kinase anchor protein 9A kinase (PRKA) anchor protein (yotiao) 9A kinase (PRKA) anchor protein 9A-kinase anchor protein 350 kDaA-kinase anchor protein 450 kDaAKAP 120-like proteinAKAP9-BRAF fusion proteincentrosome- and Golgi-localized PKN-associ | runt-related transcription factor 1AML1-EVI-1 fusion proteinPEA2-alpha BPEBP2-alpha BSL3-3 enhancer factor 1 alpha B subunitSL3/AKV core-binding factor alpha B subunitacute myeloid leukemia 1 proteincore-binding factor, runt domain, alpha subunit 2 | |
Modification date | 20200328 | 20200322 | |
UniProtAcc | Q99996 | Q01196 | |
Ensembl transtripts involved in fusion gene | ENST00000356239, ENST00000358100, ENST00000359028, ENST00000394564, ENST00000491695, | ||
Fusion gene scores | * DoF score | 17 X 21 X 11=3927 | 36 X 59 X 13=27612 |
# samples | 28 | 63 | |
** MAII score | log2(28/3927*10)=-3.80992886572143 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(63/27612*10)=-5.45379975055797 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: AKAP9 [Title/Abstract] AND RUNX1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | AKAP9(91699496)-RUNX1(36171759), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | AKAP9-RUNX1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. AKAP9-RUNX1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. AKAP9-RUNX1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. AKAP9-RUNX1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | AKAP9 | GO:0098962 | regulation of postsynaptic neurotransmitter receptor activity | 10390370 |
Hgene | AKAP9 | GO:1903358 | regulation of Golgi organization | 27666745 |
Tgene | RUNX1 | GO:0030097 | hemopoiesis | 21873977 |
Tgene | RUNX1 | GO:0045893 | positive regulation of transcription, DNA-templated | 10207087|14970218 |
Tgene | RUNX1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9199349|10207087|14970218|21873977 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-OL-A5RW-01A | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
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Fusion Gene ORF analysis for AKAP9-RUNX1 |
![]() * 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 |
5CDS-intron | ENST00000356239 | ENST00000358356 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
5CDS-intron | ENST00000356239 | ENST00000486278 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
5CDS-intron | ENST00000356239 | ENST00000494829 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
5CDS-intron | ENST00000358100 | ENST00000358356 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
5CDS-intron | ENST00000358100 | ENST00000486278 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
5CDS-intron | ENST00000358100 | ENST00000494829 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
5CDS-intron | ENST00000359028 | ENST00000358356 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
5CDS-intron | ENST00000359028 | ENST00000486278 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
5CDS-intron | ENST00000359028 | ENST00000494829 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000356239 | ENST00000300305 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000356239 | ENST00000325074 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000356239 | ENST00000344691 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000356239 | ENST00000399240 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000356239 | ENST00000437180 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000358100 | ENST00000300305 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000358100 | ENST00000325074 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000358100 | ENST00000344691 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000358100 | ENST00000399240 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000358100 | ENST00000437180 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000359028 | ENST00000300305 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000359028 | ENST00000325074 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000359028 | ENST00000344691 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000359028 | ENST00000399240 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
Frame-shift | ENST00000359028 | ENST00000437180 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-3CDS | ENST00000394564 | ENST00000300305 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-3CDS | ENST00000394564 | ENST00000325074 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-3CDS | ENST00000394564 | ENST00000344691 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-3CDS | ENST00000394564 | ENST00000399240 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-3CDS | ENST00000394564 | ENST00000437180 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-3CDS | ENST00000491695 | ENST00000300305 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-3CDS | ENST00000491695 | ENST00000325074 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-3CDS | ENST00000491695 | ENST00000344691 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-3CDS | ENST00000491695 | ENST00000399240 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-3CDS | ENST00000491695 | ENST00000437180 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-intron | ENST00000394564 | ENST00000358356 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-intron | ENST00000394564 | ENST00000486278 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-intron | ENST00000394564 | ENST00000494829 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-intron | ENST00000491695 | ENST00000358356 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-intron | ENST00000491695 | ENST00000486278 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
intron-intron | ENST00000491695 | ENST00000494829 | AKAP9 | chr7 | 91699496 | - | RUNX1 | chr21 | 36171759 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for AKAP9-RUNX1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for AKAP9-RUNX1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:91699496/:36171759) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
AKAP9 | RUNX1 |
FUNCTION: Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation at the cis-side of the Golgi apparatus (PubMed:15047863, PubMed:19242490). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with PDE4DIP isoform 13/MMG8/SMYLE, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension also from the centrosome to the cell periphery (PubMed:29162697). {ECO:0000269|PubMed:10202149, ECO:0000269|PubMed:15047863, ECO:0000269|PubMed:19242490, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:27666745, ECO:0000269|PubMed:28814570, ECO:0000269|PubMed:29162697}.; FUNCTION: [Isoform 4]: Associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations. {ECO:0000269|PubMed:9482789}. | FUNCTION: Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters (Probable). Essential for the development of normal hematopoiesis (PubMed:17431401). Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter (PubMed:10207087, PubMed:14970218). Inhibits KAT6B-dependent transcriptional activation (By similarity). Involved in lineage commitment of immature T cell precursors. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (By similarity). Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down-regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells (PubMed:17377532). Positively regulates the expression of RORC in T-helper 17 cells (By similarity). {ECO:0000250|UniProtKB:Q03347, ECO:0000269|PubMed:10207087, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:14970218, ECO:0000269|PubMed:17377532, ECO:0000269|PubMed:17431401, ECO:0000305}.; FUNCTION: Isoform AML-1G shows higher binding activities for target genes and binds TCR-beta-E2 and RAG-1 target site with threefold higher affinity than other isoforms. It is less effective in the context of neutrophil terminal differentiation. {ECO:0000250|UniProtKB:Q03347}.; FUNCTION: Isoform AML-1L interferes with the transactivation activity of RUNX1. {ECO:0000269|PubMed:9199349}. |
![]() * 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 |
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Fusion Gene Sequence for AKAP9-RUNX1 |
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Fusion Gene PPI Analysis for AKAP9-RUNX1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for AKAP9-RUNX1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for AKAP9-RUNX1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | AKAP9 | C2678483 | Long Qt Syndrome 11 | 4 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | AKAP9 | C0035828 | Romano-Ward Syndrome | 1 | ORPHANET |
Hgene | AKAP9 | C0037274 | Dermatologic disorders | 1 | CTD_human |
Hgene | AKAP9 | C0274861 | Arsenic Poisoning, Inorganic | 1 | CTD_human |
Hgene | AKAP9 | C0274862 | Nervous System, Organic Arsenic Poisoning | 1 | CTD_human |
Hgene | AKAP9 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
Hgene | AKAP9 | C0751851 | Arsenic Encephalopathy | 1 | CTD_human |
Hgene | AKAP9 | C0751852 | Arsenic Induced Polyneuropathy | 1 | CTD_human |
Hgene | AKAP9 | C1142166 | Brugada Syndrome (disorder) | 1 | ORPHANET |
Tgene | C1832388 | Platelet Disorder, Familial, with Associated Myeloid Malignancy | 11 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0023467 | Leukemia, Myelocytic, Acute | 4 | CGI;CTD_human;GENOMICS_ENGLAND | |
Tgene | C0026998 | Acute Myeloid Leukemia, M1 | 3 | CTD_human | |
Tgene | C1879321 | Acute Myeloid Leukemia (AML-M2) | 3 | CTD_human | |
Tgene | C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 2 | CTD_human | |
Tgene | C0003873 | Rheumatoid Arthritis | 1 | CTD_human | |
Tgene | C0006413 | Burkitt Lymphoma | 1 | ORPHANET | |
Tgene | C0017636 | Glioblastoma | 1 | CTD_human | |
Tgene | C0023452 | Childhood Acute Lymphoblastic Leukemia | 1 | CTD_human | |
Tgene | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human | |
Tgene | C0023473 | Myeloid Leukemia, Chronic | 1 | ORPHANET | |
Tgene | C0033578 | Prostatic Neoplasms | 1 | CTD_human | |
Tgene | C0040034 | Thrombocytopenia | 1 | GENOMICS_ENGLAND | |
Tgene | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human | |
Tgene | C0349639 | Juvenile Myelomonocytic Leukemia | 1 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human | |
Tgene | C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | ORPHANET | |
Tgene | C1621958 | Glioblastoma Multiforme | 1 | CTD_human | |
Tgene | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human | |
Tgene | C2713368 | Hematopoetic Myelodysplasia | 1 | CTD_human | |
Tgene | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |