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Fusion gene ID: 1548 |
FusionGeneSummary for ALKBH3_ACTN2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ALKBH3_ACTN2 | Fusion gene ID: 1548 | Hgene | Tgene | Gene symbol | ALKBH3 | ACTN2 | Gene ID | 221120 | 88 |
| Gene name | alkB homolog 3, alpha-ketoglutaratedependent dioxygenase | actinin alpha 2 | |
| Synonyms | ABH3|DEPC-1|DEPC1|PCA1|hABH3 | CMD1AA|CMH23 | |
| Cytomap | 11p11.2 | 1q43 | |
| Type of gene | protein-coding | protein-coding | |
| Description | alpha-ketoglutarate-dependent dioxygenase alkB homolog 3alkB homolog 3, alpha-ketoglutarate-dependent dioxygenasealkB, alkylation repair homolog 3alkylated DNA repair protein alkB homolog 3prostate cancer antigen-1 | alpha-actinin-2F-actin cross-linking proteinalpha-actinin skeletal muscle | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q96Q83 | P35609 | |
| Ensembl transtripts involved in fusion gene | ENST00000302708, ENST00000378840, ENST00000532410, | ENST00000542672, ENST00000366578, ENST00000492634, ENST00000546208, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 1=4 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: ALKBH3 [Title/Abstract] AND ACTN2 [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 |
| Hgene | ALKBH3 | GO:0006281 | DNA repair | 16858410 |
| Hgene | ALKBH3 | GO:0006307 | DNA dealkylation involved in DNA repair | 16858410|22055184 |
| Hgene | ALKBH3 | GO:0035552 | oxidative single-stranded DNA demethylation | 16858410 |
| Hgene | ALKBH3 | GO:0035553 | oxidative single-stranded RNA demethylation | 26863196|26863410 |
| Tgene | ACTN2 | GO:0030035 | microspike assembly | 12356918 |
| Tgene | ACTN2 | GO:0043268 | positive regulation of potassium ion transport | 17110593 |
| Tgene | ACTN2 | GO:0051289 | protein homotetramerization | 9501083 |
| Tgene | ACTN2 | GO:1901018 | positive regulation of potassium ion transmembrane transporter activity | 17110593 |
| 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 |
| ChiTaRS3.1 | BX501306 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
| * 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 |
| intron-3CDS | ENST00000302708 | ENST00000542672 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
| intron-3CDS | ENST00000302708 | ENST00000366578 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
| intron-3UTR | ENST00000302708 | ENST00000492634 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
| intron-intron | ENST00000302708 | ENST00000546208 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
| intron-3CDS | ENST00000378840 | ENST00000542672 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
| intron-3CDS | ENST00000378840 | ENST00000366578 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
| intron-3UTR | ENST00000378840 | ENST00000492634 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
| intron-intron | ENST00000378840 | ENST00000546208 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
| intron-3CDS | ENST00000532410 | ENST00000542672 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
| intron-3CDS | ENST00000532410 | ENST00000366578 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
| intron-3UTR | ENST00000532410 | ENST00000492634 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
| intron-intron | ENST00000532410 | ENST00000546208 | ALKBH3 | chr11 | 43903015 | + | ACTN2 | chr1 | 236891005 | + |
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FusionProtFeatures for ALKBH3_ACTN2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ALKBH3 | ACTN2 |
| Dioxygenase that mediates demethylation of DNA and RNAcontaining 1-methyladenosine (m1A) (PubMed:12486230,PubMed:12594517, PubMed:16174769, PubMed:26863196,PubMed:26863410). Repairs alkylated DNA containing 1-methyladenosine (m1A) and 3-methylcytosine (m3C) by oxidativedemethylation (PubMed:12486230, PubMed:12594517, PubMed:16174769,PubMed:25944111). Has a strong preference for single-stranded DNA(PubMed:12486230, PubMed:12594517, PubMed:16174769). Able toprocess alkylated m3C within double-stranded regions via itsinteraction with ASCC3, which promotes DNA unwinding to generatesingle-stranded substrate needed for ALKBH3 (PubMed:22055184).Also acts on RNA (PubMed:12594517, PubMed:16174769,PubMed:26863196, PubMed:26863410, PubMed:16858410). DemethylatesN(1)-methyladenosine (m1A) RNA, an epigenetic internalmodification of messenger RNAs (mRNAs) highly enriched within 5'-untranslated regions (UTRs) and in the vicinity of start codons(PubMed:26863196, PubMed:26863410). Requires molecular oxygen,alpha-ketoglutarate and iron (PubMed:22055184, PubMed:16858410).{ECO:0000269|PubMed:12486230, ECO:0000269|PubMed:12594517,ECO:0000269|PubMed:16174769, ECO:0000269|PubMed:16858410,ECO:0000269|PubMed:22055184, ECO:0000269|PubMed:25944111,ECO:0000269|PubMed:26863196, ECO:0000269|PubMed:26863410}. | F-actin cross-linking protein which is thought to anchoractin to a variety of intracellular structures. This is a bundlingprotein. |
| 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 |
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FusionGeneSequence for ALKBH3_ACTN2 |
| 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 ALKBH3_ACTN2 |
| 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 |
| - 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 |
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RelatedDrugs for ALKBH3_ACTN2 |
| 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 |
| Hgene | ALKBH3 | Q96Q83 | DB00126 | Vitamin C | Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 {ECO:0000305} | small molecule | approved|nutraceutical |
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RelatedDiseases for ALKBH3_ACTN2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ACTN2 | C2677338 | Cardiomyopathy, Dilated, 1AA | 4 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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