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Fusion gene ID: 34877 |
FusionGeneSummary for SMCR8_ALKBH5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMCR8_ALKBH5 | Fusion gene ID: 34877 | Hgene | Tgene | Gene symbol | SMCR8 | ALKBH5 | Gene ID | 140775 | 54890 |
| Gene name | Smith-Magenis syndrome chromosome region, candidate 8 | alkB homolog 5, RNA demethylase | |
| Synonyms | - | ABH5|OFOXD|OFOXD1 | |
| Cytomap | 17p11.2 | 17p11.2|17p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | guanine nucleotide exchange protein SMCR8smith-Magenis syndrome chromosomal region candidate gene 8 protein | RNA demethylase ALKBH5AlkB family member 5, RNA demethylasealkB, alkylation repair homolog 5alkylated DNA repair protein alkB homolog 5alpha-ketoglutarate-dependent dioxygenase alkB homolog 5oxoglutarate and iron-dependent oxygenase domain containing | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8TEV9 | Q6P6C2 | |
| Ensembl transtripts involved in fusion gene | ENST00000406438, | ENST00000541285, ENST00000399138, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 8 X 5 X 5=200 |
| # samples | 1 | 7 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(7/200*10)=-1.51457317282976 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMCR8 [Title/Abstract] AND ALKBH5 [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 | ALKBH5 | GO:0001666 | response to hypoxia | 21264265 |
| Tgene | ALKBH5 | GO:0035553 | oxidative single-stranded RNA demethylation | 23177736 |
| 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 | OV | TCGA-61-2002-01A | SMCR8 | chr17 | 18226347 | + | ALKBH5 | chr17 | 18110129 | + |
| * 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 |
| 5CDS-5UTR | ENST00000406438 | ENST00000541285 | SMCR8 | chr17 | 18226347 | + | ALKBH5 | chr17 | 18110129 | + |
| 5CDS-5UTR | ENST00000406438 | ENST00000399138 | SMCR8 | chr17 | 18226347 | + | ALKBH5 | chr17 | 18110129 | + |
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FusionProtFeatures for SMCR8_ALKBH5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMCR8 | ALKBH5 |
| Component of the C9orf72-SMCR8 complex, a complex thathas guanine nucleotide exchange factor (GEF) activity andregulates autophagy (PubMed:20562859, PubMed:27193190,PubMed:27103069, PubMed:27559131, PubMed:27617292,PubMed:28195531). In the complex, C9orf72 and SMCR8 probablyconstitute the catalytic subunits that promote the exchange of GDPto GTP, converting inactive GDP-bound RAB8A and RAB39B into theiractive GTP-bound form, thereby promoting autophagosome maturation(PubMed:20562859, PubMed:27103069, PubMed:27617292,PubMed:28195531). The C9orf72-SMCR8 complex also acts as anegative regulator of autophagy initiation by interacting with theATG1/ULK1 kinase complex and inhibiting its protein kinaseactivity (PubMed:27617292, PubMed:28195531). Acts as a regulatorof mTORC1 signaling by promoting phosphorylation of mTORC1substrates (PubMed:27559131, PubMed:28195531). In addition to itsactivity in the cytoplasm within the C9orf72-SMCR8 complex, SMCR8also localizes in the nucleus, where it associates with chromatinand negatively regulates expression of suppresses ULK1 and WIPI2genes (PubMed:28195531). {ECO:0000269|PubMed:20562859,ECO:0000269|PubMed:27103069, ECO:0000269|PubMed:27193190,ECO:0000269|PubMed:27559131, ECO:0000269|PubMed:27617292,ECO:0000269|PubMed:28195531}. | Dioxygenase that demethylates RNA by oxidativedemethylation: specifically demethylates N(6)-methyladenosine(m6A) RNA, the most prevalent internal modification of messengerRNA (mRNA) in higher eukaryotes (PubMed:23177736, PubMed:24778178,PubMed:24616105, PubMed:24489119). Can also demethylate N(6)-methyladenosine in single-stranded DNA (in vitro)(PubMed:24616105). Requires molecular oxygen, alpha-ketoglutarateand iron (PubMed:21264265, PubMed:23177736, PubMed:24778178,PubMed:24616105, PubMed:24489119). Demethylation of m6A mRNAaffects mRNA processing and export (PubMed:23177736). Required forspermatogenesis (By similarity). {ECO:0000250|UniProtKB:Q3TSG4,ECO:0000269|PubMed:21264265, ECO:0000269|PubMed:23177736,ECO:0000269|PubMed:24489119, ECO:0000269|PubMed:24616105,ECO:0000269|PubMed:24778178}. |
| 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 SMCR8_ALKBH5 |
| 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 SMCR8_ALKBH5 |
| 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 |
| SMCR8 | RB1CC1, MMS19, CRYAB, IMPDH2, NTRK1, TMEM17, CDC16, IMPDH1, SSSCA1, FANCA | ALKBH5 | ELAVL1, CSNK2A1, HECW2, THOC7, FOXA1, TRIM25 |
| - 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 SMCR8_ALKBH5 |
| 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 |
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RelatedDiseases for SMCR8_ALKBH5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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