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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: 29389

FusionGeneSummary for PTMS_OPN1LW

check button Fusion gene summary
Fusion gene informationFusion gene name: PTMS_OPN1LW
Fusion gene ID: 29389
HgeneTgene
Gene symbol

PTMS

OPN1LW

Gene ID

5763

5956

Gene nameparathymosinopsin 1, long wave sensitive
SynonymsParaTCBBM|CBP|COD5|RCP|ROP
Cytomap

12p13.31

Xq28

Type of geneprotein-codingprotein-coding
Descriptionparathymosinlong-wave-sensitive opsin 1cone dystrophy 5 (X-linked)opsin 1 (cone pigments), long-wave-sensitivered cone opsinred cone photoreceptor pigmentred-sensitive opsin
Modification date2018051920180523
UniProtAcc

P20962

P04000

Ensembl transtripts involved in fusion geneENST00000389462, ENST00000309083, 
ENST00000538057, 
ENST00000369951, 
ENST00000463296, 
Fusion gene scores* DoF score8 X 8 X 3=1923 X 3 X 2=18
# samples 83
** MAII scorelog2(8/192*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PTMS [Title/Abstract] AND OPN1LW [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
ChiTaRS3.1BM688133PTMSchr12

6879811

+OPN1LWchrX

153424440

+
* 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
intron-3UTRENST00000389462ENST00000369951PTMSchr12

6879811

+OPN1LWchrX

153424440

+
intron-intronENST00000389462ENST00000463296PTMSchr12

6879811

+OPN1LWchrX

153424440

+
3UTR-3UTRENST00000309083ENST00000369951PTMSchr12

6879811

+OPN1LWchrX

153424440

+
3UTR-intronENST00000309083ENST00000463296PTMSchr12

6879811

+OPN1LWchrX

153424440

+
3UTR-3UTRENST00000538057ENST00000369951PTMSchr12

6879811

+OPN1LWchrX

153424440

+
3UTR-intronENST00000538057ENST00000463296PTMSchr12

6879811

+OPN1LWchrX

153424440

+

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FusionProtFeatures for PTMS_OPN1LW


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

P20962

OPN1LW

P04000

Parathymosin may mediate immune function by blocking theeffect of prothymosin alpha which confers resistance to certainopportunistic infections. Visual pigments are the light-absorbing molecules thatmediate vision. They consist of an apoprotein, opsin, covalentlylinked to cis-retinal.

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 PTMS_OPN1LW


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 PTMS_OPN1LW


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


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 PTMS_OPN1LW


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 PTMS_OPN1LW


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneOPN1LWC0339537Cone monochromatism2CTD_human;HPO;ORPHANET;UNIPROT
TgeneOPN1LWC3887980COLORBLINDNESS, PARTIAL, PROTAN SERIES1CTD_human;HPO;UNIPROT