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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: 271

FusionGeneSummary for ABLIM1_PDE6B

check button Fusion gene summary
Fusion gene informationFusion gene name: ABLIM1_PDE6B
Fusion gene ID: 271
HgeneTgene
Gene symbol

ABLIM1

PDE6B

Gene ID

3983

5158

Gene nameactin binding LIM protein 1phosphodiesterase 6B
SynonymsABLIM|LIMAB1|LIMATIN|abLIM-1CSNB3|CSNBAD2|GMP-PDEbeta|PDEB|RP40|rd1
Cytomap

10q25.3

4p16.3

Type of geneprotein-codingprotein-coding
Descriptionactin-binding LIM protein 1actin-binding LIM protein family member 1actin-binding double-zinc-finger proteinrod cGMP-specific 3',5'-cyclic phosphodiesterase subunit betaGMP-PDE betaphosphodiesterase 6B, cGMP-specific, rod, betarod cGMP-phosphodiesterase beta-subunit
Modification date2018052320180522
UniProtAcc

O14639

P35913

Ensembl transtripts involved in fusion geneENST00000369252, ENST00000533213, 
ENST00000277895, ENST00000369266, 
ENST00000392952, ENST00000369253, 
ENST00000477638, 
ENST00000255622, 
ENST00000496514, ENST00000429163, 
Fusion gene scores* DoF score7 X 7 X 3=1473 X 3 X 3=27
# samples 73
** MAII scorelog2(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)

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
TCGARVUCECTCGA-D1-A3JP-01AABLIM1chr10

116286419

-PDE6Bchr4

628466

+
* 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-3CDSENST00000369252ENST00000255622ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
intron-3CDSENST00000369252ENST00000496514ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
intron-intronENST00000369252ENST00000429163ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
intron-3CDSENST00000533213ENST00000255622ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
intron-3CDSENST00000533213ENST00000496514ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
intron-intronENST00000533213ENST00000429163ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
intron-3CDSENST00000277895ENST00000255622ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
intron-3CDSENST00000277895ENST00000496514ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
intron-intronENST00000277895ENST00000429163ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
5UTR-3CDSENST00000369266ENST00000255622ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
5UTR-3CDSENST00000369266ENST00000496514ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
5UTR-intronENST00000369266ENST00000429163ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
5UTR-3CDSENST00000392952ENST00000255622ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
5UTR-3CDSENST00000392952ENST00000496514ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
5UTR-intronENST00000392952ENST00000429163ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
5UTR-3CDSENST00000369253ENST00000255622ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
5UTR-3CDSENST00000369253ENST00000496514ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
5UTR-intronENST00000369253ENST00000429163ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
intron-3CDSENST00000477638ENST00000255622ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
intron-3CDSENST00000477638ENST00000496514ABLIM1chr10

116286419

-PDE6Bchr4

628466

+
intron-intronENST00000477638ENST00000429163ABLIM1chr10

116286419

-PDE6Bchr4

628466

+

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FusionProtFeatures for ABLIM1_PDE6B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ABLIM1

O14639

PDE6B

P35913

This protein participates in processes of transmissionand amplification of the visual signal. Necessary for theformation of a functional phosphodiesterase holoenzyme.

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 ABLIM1_PDE6B


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 ABLIM1_PDE6B


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
ABLIM1VIM, 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, TRIM25PDE6BPPP1CC


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 ABLIM1_PDE6B


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 ABLIM1_PDE6B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABLIM1C0236969Substance-Related Disorders1CTD_human
TgenePDE6BC3151107RETINITIS PIGMENTOSA 40 (disorder)7UNIPROT
TgenePDE6BC0035304Retinal Degeneration4CTD_human
TgenePDE6BC0035334Retinitis Pigmentosa1CTD_human;HPO;ORPHANET
TgenePDE6BC0339535Night blindness, congenital stationary1CTD_human;HPO;ORPHANET
TgenePDE6BC1876182NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 21CTD_human;UNIPROT