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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 25446

FusionGeneSummary for OPHN1_TNMD

check button Fusion gene summary
Fusion gene informationFusion gene name: OPHN1_TNMD
Fusion gene ID: 25446
HgeneTgene
Gene symbol

OPHN1

TNMD

Gene ID

4983

64102

Gene nameoligophrenin 1tenomodulin
SynonymsARHGAP41|MRX60|OPN1BRICD4|CHM1L|TEM
Cytomap

Xq12

Xq22.1

Type of geneprotein-codingprotein-coding
Descriptionoligophrenin-1mental retardation, X-linked 60oligophrenin-1, Rho-GTPase activating proteintenomodulinBRICHOS domain containing 4chondromodulin-1-like proteinchondromodulin-I-like proteinchondromodulin-IBhChM1LhTeMmyodulintendin
Modification date2018052320180519
UniProtAcc

O60890

Q9H2S6

Ensembl transtripts involved in fusion geneENST00000355520, ENST00000540071, 
ENST00000484842, 
ENST00000373031, 
ENST00000485971, 
Fusion gene scores* DoF score3 X 3 X 3=271 X 1 X 1=1
# samples 31
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBLCATCGA-GU-A767-01AOPHN1chrX

67494580

-TNMDchrX

99848892

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000355520ENST00000373031OPHN1chrX

67494580

-TNMDchrX

99848892

+
5CDS-3UTRENST00000355520ENST00000485971OPHN1chrX

67494580

-TNMDchrX

99848892

+
Frame-shiftENST00000540071ENST00000373031OPHN1chrX

67494580

-TNMDchrX

99848892

+
5CDS-3UTRENST00000540071ENST00000485971OPHN1chrX

67494580

-TNMDchrX

99848892

+
intron-3CDSENST00000484842ENST00000373031OPHN1chrX

67494580

-TNMDchrX

99848892

+
intron-3UTRENST00000484842ENST00000485971OPHN1chrX

67494580

-TNMDchrX

99848892

+

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FusionProtFeatures for OPHN1_TNMD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OPHN1

O60890

TNMD

Q9H2S6

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.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for OPHN1_TNMD


check button 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 OPHN1_TNMD


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
OPHN1RHOA, RAC1, CDC42, NXF1, ARHGAP26, TRIM25TNMDTMEM79, LMNA


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for OPHN1_TNMD


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for OPHN1_TNMD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneOPHN1C1136249Mental Retardation, X-Linked1CTD_human