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Fusion gene ID: 271 |
FusionGeneSummary for ABLIM1_PDE6B |
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Fusion gene information | Fusion gene name: ABLIM1_PDE6B | Fusion gene ID: 271 | Hgene | Tgene | Gene symbol | ABLIM1 | PDE6B | Gene ID | 3983 | 5158 |
Gene name | actin binding LIM protein 1 | phosphodiesterase 6B | |
Synonyms | ABLIM|LIMAB1|LIMATIN|abLIM-1 | CSNB3|CSNBAD2|GMP-PDEbeta|PDEB|RP40|rd1 | |
Cytomap | 10q25.3 | 4p16.3 | |
Type of gene | protein-coding | protein-coding | |
Description | actin-binding LIM protein 1actin-binding LIM protein family member 1actin-binding double-zinc-finger protein | rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit betaGMP-PDE betaphosphodiesterase 6B, cGMP-specific, rod, betarod cGMP-phosphodiesterase beta-subunit | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | O14639 | P35913 | |
Ensembl transtripts involved in fusion gene | ENST00000369252, ENST00000533213, ENST00000277895, ENST00000369266, ENST00000392952, ENST00000369253, ENST00000477638, | ENST00000255622, ENST00000496514, ENST00000429163, | |
Fusion gene scores | * DoF score | 7 X 7 X 3=147 | 3 X 3 X 3=27 |
# samples | 7 | 3 | |
** MAII score | log2(7/147*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ABLIM1 [Title/Abstract] AND PDE6B [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 | UCEC | TCGA-D1-A3JP-01A | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
* 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 |
intron-3CDS | ENST00000369252 | ENST00000255622 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
intron-3CDS | ENST00000369252 | ENST00000496514 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
intron-intron | ENST00000369252 | ENST00000429163 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
intron-3CDS | ENST00000533213 | ENST00000255622 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
intron-3CDS | ENST00000533213 | ENST00000496514 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
intron-intron | ENST00000533213 | ENST00000429163 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
intron-3CDS | ENST00000277895 | ENST00000255622 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
intron-3CDS | ENST00000277895 | ENST00000496514 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
intron-intron | ENST00000277895 | ENST00000429163 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
5UTR-3CDS | ENST00000369266 | ENST00000255622 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
5UTR-3CDS | ENST00000369266 | ENST00000496514 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
5UTR-intron | ENST00000369266 | ENST00000429163 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
5UTR-3CDS | ENST00000392952 | ENST00000255622 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
5UTR-3CDS | ENST00000392952 | ENST00000496514 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
5UTR-intron | ENST00000392952 | ENST00000429163 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
5UTR-3CDS | ENST00000369253 | ENST00000255622 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
5UTR-3CDS | ENST00000369253 | ENST00000496514 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
5UTR-intron | ENST00000369253 | ENST00000429163 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
intron-3CDS | ENST00000477638 | ENST00000255622 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
intron-3CDS | ENST00000477638 | ENST00000496514 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
intron-intron | ENST00000477638 | ENST00000429163 | ABLIM1 | chr10 | 116286419 | - | PDE6B | chr4 | 628466 | + |
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FusionProtFeatures for ABLIM1_PDE6B |
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Hgene | Tgene |
ABLIM1 | PDE6B |
This protein participates in processes of transmissionand amplification of the visual signal. Necessary for theformation of a functional phosphodiesterase holoenzyme. |
![]() * 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 ABLIM1_PDE6B |
![]() (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 ABLIM1_PDE6B |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ABLIM1 | VIM, GOLGA2, BEGAIN, TRAF2, LDOC1, TSC22D4, USHBP1, CALCOCO2, HOOK2, KRT15, SFN, KCNJ12, SREBF2, ACTB, APP, ABRA, YWHAE, YWHAB, ASB18, CARD9, CCDC8, SUZ12, CASK, LUZP4, ABCE1, NMT1, SEPSECS, LIN7C, KIAA0753, SSX2IP, CEP128, CEP89, FBF1, NINL, ODF2, SCLT1, CEP19, STIL, CENPJ, XPO1, CAPZA2, CDK2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, SYNPO, MAPRE1, LIMA1, ANLN, MYO19, MYO18A, CDH1, CYB5D2, KLHL40, BCO1, MED21, YWHAZ, CBY1, CYLD, TRIM25 | PDE6B | PPP1CC |
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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 ABLIM1_PDE6B |
![]() (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 ABLIM1_PDE6B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ABLIM1 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Tgene | PDE6B | C3151107 | RETINITIS PIGMENTOSA 40 (disorder) | 7 | UNIPROT |
Tgene | PDE6B | C0035304 | Retinal Degeneration | 4 | CTD_human |
Tgene | PDE6B | C0035334 | Retinitis Pigmentosa | 1 | CTD_human;HPO;ORPHANET |
Tgene | PDE6B | C0339535 | Night blindness, congenital stationary | 1 | CTD_human;HPO;ORPHANET |
Tgene | PDE6B | C1876182 | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 | 1 | CTD_human;UNIPROT |