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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:FREM2-QKI (FusionGDB2 ID:HG341640TG9444) |
Fusion Gene Summary for FREM2-QKI |
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Fusion gene information | Fusion gene name: FREM2-QKI | Fusion gene ID: hg341640tg9444 | Hgene | Tgene | Gene symbol | FREM2 | QKI | Gene ID | 341640 | 9444 |
Gene name | FRAS1 related extracellular matrix 2 | QKI, KH domain containing RNA binding | |
Synonyms | CRYPTOP|FRASRS2 | Hqk|QK|QK1|QK3|hqkI | |
Cytomap | ('FREM2')('QKI') 13q13.3 | 6q26 | |
Type of gene | protein-coding | protein-coding | |
Description | FRAS1-related extracellular matrix protein 2ECM3 homologFRAS1 related extracellular matrix protein 2 | protein quakingQKI/LOC100132735 fusionRNA binding protein HQKhomolog of mouse quaking QKI (KH domain RNA binding protein)quaking homolog, KH domain RNA binding | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | Q5SZK8 | Q96PU8 | |
Ensembl transtripts involved in fusion gene | ENST00000280481, ENST00000482551, | ||
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 23 X 23 X 9=4761 |
# samples | 4 | 27 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(27/4761*10)=-4.14023331650551 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: FREM2 [Title/Abstract] AND QKI [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | FREM2(39459954)-QKI(163992454), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 |
![]() * 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 |
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Fusion Gene ORF analysis for FREM2-QKI |
![]() * 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 |
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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 FREM2-QKI |
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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 FREM2-QKI |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:39459954/:163992454) - 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 |
FREM2 | QKI |
FUNCTION: Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia (PubMed:15838507). Required for epidermal adhesion (PubMed:15838507). Involved in the development of eyelids and the anterior segment of the eyeballs (PubMed:29688405, PubMed:30802441). {ECO:0000269|PubMed:15838507, ECO:0000269|PubMed:29688405, ECO:0000269|PubMed:30802441}. | FUNCTION: RNA-binding protein that plays a central role in myelinization (PubMed:16641098). Binds to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA core sequence. Regulates target mRNA stability (PubMed:23630077). In addition, acts by regulating pre-mRNA splicing, mRNA export and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia (PubMed:16641098). Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity). {ECO:0000250|UniProtKB:Q9QYS9, ECO:0000269|PubMed:16641098, ECO:0000269|PubMed:23630077}. |
![]() * 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 FREM2-QKI |
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Fusion Gene PPI Analysis for FREM2-QKI |
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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 FREM2-QKI |
![]() (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 FREM2-QKI |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FREM2 | C4540036 | FRASER SYNDROME 2 | 3 | GENOMICS_ENGLAND;UNIPROT |
Hgene | FREM2 | C0265233 | Cryptophthalmos syndrome | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | FREM2 | C0266294 | Unilateral agenesis of kidney | 2 | ORPHANET |
Hgene | FREM2 | C1852453 | Cryptophthalmos, Unilateral or Bilateral, Isolated | 2 | ORPHANET;UNIPROT |
Hgene | FREM2 | C4551480 | FRASER SYNDROME 1 | 2 | GENOMICS_ENGLAND |
Hgene | FREM2 | C0015397 | Disorder of eye | 1 | GENOMICS_ENGLAND |
Hgene | FREM2 | C0152423 | Congenital small ears | 1 | GENOMICS_ENGLAND |
Hgene | FREM2 | C0152427 | Polydactyly | 1 | GENOMICS_ENGLAND |
Hgene | FREM2 | C1855425 | Marles Greenberg Persaud syndrome | 1 | GENOMICS_ENGLAND |
Tgene | C0036341 | Schizophrenia | 5 | PSYGENET | |
Tgene | C0017638 | Glioma | 1 | CTD_human | |
Tgene | C0041696 | Unipolar Depression | 1 | PSYGENET | |
Tgene | C0259783 | mixed gliomas | 1 | CTD_human | |
Tgene | C0555198 | Malignant Glioma | 1 | CTD_human | |
Tgene | C1269683 | Major Depressive Disorder | 1 | PSYGENET | |
Tgene | C2363903 | Angiocentric glioma | 1 | ORPHANET | |
Tgene | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |