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Fusion gene ID: 1355 |
FusionGeneSummary for AKAP8_CALR3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AKAP8_CALR3 | Fusion gene ID: 1355 | Hgene | Tgene | Gene symbol | AKAP8 | CALR3 | Gene ID | 10270 | 125972 |
| Gene name | A-kinase anchoring protein 8 | calreticulin 3 | |
| Synonyms | AKAP 95|AKAP-8|AKAP-95|AKAP95 | CMH19|CRT2|CT93 | |
| Cytomap | 19p13.12 | 19p13.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | A-kinase anchor protein 8A kinase (PRKA) anchor protein 8A-kinase anchor protein, 95kDa | calreticulin-3calreticulin-2calsperincancer/testis antigen 93testis secretory sperm-binding protein Li 226n | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O43823 | Q96L12 | |
| Ensembl transtripts involved in fusion gene | ENST00000269701, | ENST00000269881, ENST00000602234, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 3 X 3 X 4=36 |
| # samples | 5 | 5 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/36*10)=0.473931188332412 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: AKAP8 [Title/Abstract] AND CALR3 [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 |
| 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 | RV | SARC | TCGA-3B-A9HP-01A | AKAP8 | chr19 | 15487787 | - | CALR3 | chr19 | 16601381 | - |
| * 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 |
| In-frame | ENST00000269701 | ENST00000269881 | AKAP8 | chr19 | 15487787 | - | CALR3 | chr19 | 16601381 | - |
| 5CDS-intron | ENST00000269701 | ENST00000602234 | AKAP8 | chr19 | 15487787 | - | CALR3 | chr19 | 16601381 | - |
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FusionProtFeatures for AKAP8_CALR3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AKAP8 | CALR3 |
| Anchoring protein that mediates the subcellularcompartmentation of cAMP-dependent protein kinase (PKA type II)(PubMed:9473338). Acts as an anchor for a PKA-signaling complexonto mitotic chromosomes, which is required for maintenance ofchromosomes in a condensed form throughout mitosis. Recruitscondensin complex subunit NCAPD2 to chromosomes required forchromatin condensation; the function appears to be independentfrom PKA-anchoring (PubMed:10601332, PubMed:10791967,PubMed:11964380). May help to deliver cyclin D/E to CDK4 tofacilitate cell cycle progression (PubMed:14641107). Required forcell cycle G2/M transition and histone deacetylation duringmitosis. In mitotic cells recruits HDAC3 to the vicinity ofchromatin leading to deacetylation and subsequent phosphorylationat 'Ser-10' of histone H3; in this function may act redundantlywith AKAP8L (PubMed:16980585). Involved in nuclear retention ofRPS6KA1 upon ERK activation thus inducing cell proliferation(PubMed:22130794). May be involved in regulation of DNAreplication by acting as scaffold for MCM2 (PubMed:12740381).Enhances HMT activity of the KMT2 family MLL4/WBP7 complex and isinvolved in transcriptional regulation. In a teratocarcinoma cellline is involved in retinoic acid-mediated induction ofdevelopmental genes implicating H3 'Lys-4' methylation(PubMed:23995757). May be involved in recruitment of active CASP3to the nucleus in apoptotic cells (PubMed:16227597). May act as acarrier protein of GJA1 for its transport to the nucleus(PubMed:26880274). Seems to involved in modulation of rDNAtranscription. Preferentially binds GC-rich DNA in vitro andassociates to GC-rich ribosomal RNA promoters (PubMed:26683827).Involved in modulation of Toll-like receptor signaling. Requiredfor the cAMP-dependent suppression of TNF-alpha in early stages ofLPS-induced macrophage activation; the function probablyimplicates targeting of PKA to NFKB1 (By similarity).{ECO:0000250|UniProtKB:Q63014, ECO:0000250|UniProtKB:Q9DBR0,ECO:0000269|PubMed:10601332, ECO:0000269|PubMed:10791967,ECO:0000269|PubMed:11964380, ECO:0000269|PubMed:16980585,ECO:0000269|PubMed:22130794, ECO:0000269|PubMed:26683827,ECO:0000269|PubMed:26880274, ECO:0000305|PubMed:14641107,ECO:0000305|PubMed:9473338}. | During spermatogenesis, may act as a lectin-independentchaperone for specific client proteins such as ADAM3. Required forsperm fertility (By similarity). CALR3 capacity for calcium-binding may be absent or much lower than that of CALR.{ECO:0000250, ECO:0000269|PubMed:21590275}. |
| 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 |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 337_362 | 64 | 385 | Compositional bias | Note=Glu/Lys-rich |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 381_384 | 64 | 385 | Motif | Prevents secretion from ER |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 191_245 | 64 | 385 | Region | Note=4 X approximate repeats |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 198_294 | 64 | 385 | Region | Note=P-domain |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 249_283 | 64 | 385 | Region | Note=3 X approximate repeats |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 295_384 | 64 | 385 | Region | Note=C-domain |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 191_202 | 64 | 385 | Repeat | Note=1-1 |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 208_219 | 64 | 385 | Repeat | Note=1-2 |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 221_230 | 64 | 385 | Repeat | Note=1-3 |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 234_245 | 64 | 385 | Repeat | Note=1-4 |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 249_259 | 64 | 385 | Repeat | Note=2-1 |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 263_271 | 64 | 385 | Repeat | Note=2-2 |
| Tgene | >CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 273_283 | 64 | 385 | Repeat | Note=2-3 |
| - 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 |
| Hgene | >AKAP8 | chr19:15487787 | chr19:16601381 | ENST00000269701 | - | 2 | 14 | 107_118 | 19 | 693 | Compositional bias | Note=Poly-Gly |
| Hgene | >AKAP8 | chr19:15487787 | chr19:16601381 | ENST00000269701 | - | 2 | 14 | 289_306 | 19 | 693 | Motif | Bipartite nuclear localization signal |
| Hgene | >AKAP8 | chr19:15487787 | chr19:16601381 | ENST00000269701 | - | 2 | 14 | 387_450 | 19 | 693 | Region | Involved in chromatin-binding |
| Hgene | >AKAP8 | chr19:15487787 | chr19:16601381 | ENST00000269701 | - | 2 | 14 | 525_569 | 19 | 693 | Region | Involved in condensin complex recruitment |
| Hgene | >AKAP8 | chr19:15487787 | chr19:16601381 | ENST00000269701 | - | 2 | 14 | 572_589 | 19 | 693 | Region | RII-binding |
| Hgene | >AKAP8 | chr19:15487787 | chr19:16601381 | ENST00000269701 | - | 2 | 14 | 392_414 | 19 | 693 | Zinc finger | C2H2 AKAP95-type 1 |
| Hgene | >AKAP8 | chr19:15487787 | chr19:16601381 | ENST00000269701 | - | 2 | 14 | 481_504 | 19 | 693 | Zinc finger | C2H2 AKAP95-type 2 |
| Tgene | CALR3 | chr19:15487787 | chr19:16601381 | ENST00000269881 | - | 1 | 9 | 20_197 | 64 | 385 | Region | Note=N-domain |
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FusionGeneSequence for AKAP8_CALR3 |
| 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. |
| >In-frame_AKAP8_ENST00000269701_chr19_15487787_-_CALR3_ENST00000269881_chr19_16601381_-_340aa MDQGYGGYGAWSAGPANTQGLQTTQNGRFYAISARFKPFSNKGKTLVIQYTVKHEQKMDCGGGYIKVFPADIDQKNLNGKSQYYIMFGPD ICGFDIKKVHVILHFKNKYHENKKLIRCKVDGFTHLYTLILRPDLSYDVKIDGQSIESGSIEYDWNLTSLKKETSPAESKDWEQTKDNKA QDWEKHFLDASTSKQSDWNGDLDGDWPAPMLQKPPYQDGLKPEGIHKDVWLHRKMKNTDYLTQYDLSEFENIGAIGLELWQVRSGTIFDN |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_AKAP8_ENST00000269701_chr19_15487787_-_CALR3_ENST00000269881_chr19_16601381_-_1020nt ATGGACCAGGGCTACGGAGGCTACGGGGCGTGGAGTGCTGGACCTGCCAACACCCAGGGTCTGCAAACCACTCAGAATGGCCGATTCTAT GCCATCTCTGCACGCTTCAAACCGTTCAGCAATAAAGGGAAAACTCTGGTTATTCAGTACACAGTAAAACATGAGCAGAAGATGGACTGT GGAGGGGGCTACATTAAGGTCTTTCCTGCAGACATTGACCAGAAGAACCTGAATGGAAAATCGCAGTACTATATTATGTTTGGACCCGAT ATTTGTGGATTTGATATCAAGAAAGTTCATGTTATTTTACATTTCAAGAATAAGTATCACGAAAACAAGAAACTGATCAGGTGTAAGGTT GATGGCTTCACACACCTGTACACTCTAATTTTAAGACCAGATCTTTCTTATGATGTGAAAATTGATGGTCAGTCAATTGAATCCGGCAGC ATAGAGTACGACTGGAACTTAACATCACTCAAGAAGGAAACGTCCCCGGCAGAATCGAAGGATTGGGAACAGACTAAAGACAACAAAGCC CAGGACTGGGAGAAGCATTTTCTGGACGCCAGCACCAGCAAGCAGAGCGACTGGAACGGTGACCTGGATGGGGACTGGCCAGCGCCGATG CTCCAGAAGCCCCCGTACCAGGATGGCCTGAAACCAGAAGGTATTCATAAAGACGTCTGGCTCCACCGTAAGATGAAGAATACCGACTAT TTGACGCAGTATGACCTCTCAGAATTTGAGAACATTGGTGCCATTGGCCTGGAGCTTTGGCAGGTGAGATCTGGAACCATTTTTGATAAC TTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGGTCCAGAAAGGGAGATGGATGCC ATACAGGCCAAGGAGGAAATGAAGAAGGCCCGCGAGGAAGAGGAGGAAGAGCTGCTGTCGGGAAAAATTAACAGGCACGAACATTACTTC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_AKAP8_ENST00000269701_chr19_15487787_-_CALR3_ENST00000269881_chr19_16601381_-_1155nt TGAACGCATGCGTGCTGTGGTCGCCTAGTAAACGGGGCTGCTGGTGGGCCGCGTCGAAGACATGGACCAGGGCTACGGAGGCTACGGGGC GTGGAGTGCTGGACCTGCCAACACCCAGGGTCTGCAAACCACTCAGAATGGCCGATTCTATGCCATCTCTGCACGCTTCAAACCGTTCAG CAATAAAGGGAAAACTCTGGTTATTCAGTACACAGTAAAACATGAGCAGAAGATGGACTGTGGAGGGGGCTACATTAAGGTCTTTCCTGC AGACATTGACCAGAAGAACCTGAATGGAAAATCGCAGTACTATATTATGTTTGGACCCGATATTTGTGGATTTGATATCAAGAAAGTTCA TGTTATTTTACATTTCAAGAATAAGTATCACGAAAACAAGAAACTGATCAGGTGTAAGGTTGATGGCTTCACACACCTGTACACTCTAAT TTTAAGACCAGATCTTTCTTATGATGTGAAAATTGATGGTCAGTCAATTGAATCCGGCAGCATAGAGTACGACTGGAACTTAACATCACT CAAGAAGGAAACGTCCCCGGCAGAATCGAAGGATTGGGAACAGACTAAAGACAACAAAGCCCAGGACTGGGAGAAGCATTTTCTGGACGC CAGCACCAGCAAGCAGAGCGACTGGAACGGTGACCTGGATGGGGACTGGCCAGCGCCGATGCTCCAGAAGCCCCCGTACCAGGATGGCCT GAAACCAGAAGGTATTCATAAAGACGTCTGGCTCCACCGTAAGATGAAGAATACCGACTATTTGACGCAGTATGACCTCTCAGAATTTGA GAACATTGGTGCCATTGGCCTGGAGCTTTGGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGC AGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGGTCCAGAAAGGGAGATGGATGCCATACAGGCCAAGGAGGAAATGAAGAAGGC CCGCGAGGAAGAGGAGGAAGAGCTGCTGTCGGGAAAAATTAACAGGCACGAACATTACTTCAATCAATTTCACAGAAGGAATGAACTTTA |
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FusionGenePPI for AKAP8_CALR3 |
| 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 |
| AKAP8 | MCM2, CCND3, CCND1, CCND2, PRKAR2A, AMY1A, DDX5, TADA2A, MYC, ELAVL1, HNRNPA1, CUL3, COPS5, CAND1, LRRK2, ESR1, BARD1, CSNK2A1, HDAC11, HIPK4, RPA3, RPA2, RPA1, NXF1, CCDC8, EZH2, RNF2, BMI1, ILK, CLEC11A, FBXW11, EEF1D, EEF1B2, RUVBL1, RUVBL2, TUBB4B, EWSR1, MATR3, FOXA3, FOXC2, FOXE1, FOXG1, FOXJ2, CRY2, FOXP3, FOXS1, CDC5L, C11orf30, BRCA1, TES | CALR3 | SRRM2, FAM217B, UBR5, FAT1, OS9, GPR98, ITGA8, FREM2, CLN5, TMEM132A, TXNDC16 |
| - 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 |
| Hgene | AKAP8 | chr19:15487787 | chr19:16601381 | ENST00000269701 | - | 2 | 14 | 109_201 | 19 | 693 | DDX5 |
| Hgene | AKAP8 | chr19:15487787 | chr19:16601381 | ENST00000269701 | - | 2 | 14 | 1_210 | 19 | 693 | DPY30 |
| Hgene | AKAP8 | chr19:15487787 | chr19:16601381 | ENST00000269701 | - | 2 | 14 | 1_195 | 19 | 693 | MCM2 |
| - 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 |
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RelatedDrugs for AKAP8_CALR3 |
| 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 | CALR3 | Q96L12 | DB11093 | Calcium Citrate | Calreticulin-3 | small molecule | approved |
| Tgene | CALR3 | Q96L12 | DB11348 | Calcium Phosphate | Calreticulin-3 | small molecule | approved |
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RelatedDiseases for AKAP8_CALR3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AKAP8 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | AKAP8 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | CALR3 | C3151266 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19 | 1 | UNIPROT |
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