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Fusion gene ID: 25446 |
FusionGeneSummary for OPHN1_TNMD |
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Fusion gene information | Fusion gene name: OPHN1_TNMD | Fusion gene ID: 25446 | Hgene | Tgene | Gene symbol | OPHN1 | TNMD | Gene ID | 4983 | 64102 |
Gene name | oligophrenin 1 | tenomodulin | |
Synonyms | ARHGAP41|MRX60|OPN1 | BRICD4|CHM1L|TEM | |
Cytomap | Xq12 | Xq22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | oligophrenin-1mental retardation, X-linked 60oligophrenin-1, Rho-GTPase activating protein | tenomodulinBRICHOS domain containing 4chondromodulin-1-like proteinchondromodulin-I-like proteinchondromodulin-IBhChM1LhTeMmyodulintendin | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | O60890 | Q9H2S6 | |
Ensembl transtripts involved in fusion gene | ENST00000355520, ENST00000540071, ENST00000484842, | ENST00000373031, ENST00000485971, | |
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 1 X 1 X 1=1 |
# samples | 3 | 1 | |
** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: OPHN1 [Title/Abstract] AND TNMD [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | BLCA | TCGA-GU-A767-01A | OPHN1 | chrX | 67494580 | - | TNMD | chrX | 99848892 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
Frame-shift | ENST00000355520 | ENST00000373031 | OPHN1 | chrX | 67494580 | - | TNMD | chrX | 99848892 | + |
5CDS-3UTR | ENST00000355520 | ENST00000485971 | OPHN1 | chrX | 67494580 | - | TNMD | chrX | 99848892 | + |
Frame-shift | ENST00000540071 | ENST00000373031 | OPHN1 | chrX | 67494580 | - | TNMD | chrX | 99848892 | + |
5CDS-3UTR | ENST00000540071 | ENST00000485971 | OPHN1 | chrX | 67494580 | - | TNMD | chrX | 99848892 | + |
intron-3CDS | ENST00000484842 | ENST00000373031 | OPHN1 | chrX | 67494580 | - | TNMD | chrX | 99848892 | + |
intron-3UTR | ENST00000484842 | ENST00000485971 | OPHN1 | chrX | 67494580 | - | TNMD | chrX | 99848892 | + |
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FusionProtFeatures for OPHN1_TNMD |
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Hgene | Tgene |
OPHN1 | TNMD |
Stimulates GTP hydrolysis of members of the Rho family.Its action on RHOA activity and signaling is implicated in growthand stabilization of dendritic spines, and therefore in synapticfunction. Critical for the stabilization of AMPA receptors atpostsynaptic sites. Critical for the regulation of synapticvesicle endocytosis at presynaptic terminals. Required for thelocalization of NR1D1 to dendrites, can suppress its repressoractivity and protect it from proteasomal degradation (Bysimilarity). {ECO:0000250}. | May be an angiogenesis inhibitor. |
![]() * 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 OPHN1_TNMD |
![]() (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 OPHN1_TNMD |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
OPHN1 | RHOA, RAC1, CDC42, NXF1, ARHGAP26, TRIM25 | TNMD | TMEM79, LMNA |
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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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RelatedDrugs for OPHN1_TNMD |
![]() (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 OPHN1_TNMD |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | OPHN1 | C1136249 | Mental Retardation, X-Linked | 1 | CTD_human |