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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: 18737

FusionGeneSummary for KIAA1671_BEST1

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1671_BEST1
Fusion gene ID: 18737
HgeneTgene
Gene symbol

KIAA1671

BEST1

Gene ID

85379

7439

Gene nameKIAA1671bestrophin 1
Synonyms-ARB|BEST|BMD|Best1V1Delta2|RP50|TU15B|VMD2
Cytomap

22q11.23

11q12.3

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein KIAA1671CTA-221G9.5bestrophin-1Best diseasevitelliform macular dystrophy protein 2
Modification date2018051920180527
UniProtAcc

Q9BY89

O76090

Ensembl transtripts involved in fusion geneENST00000406486, ENST00000358431, 
ENST00000401395, 		ENST00000378043, 
ENST00000378042, ENST00000534553, 
ENST00000301774, ENST00000435278, 
ENST00000449131, ENST00000526988, 
Fusion gene scores* DoF score14 X 8 X 9=10081 X 1 X 1=1
# samples 121
** MAII scorelog2(12/1008*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: KIAA1671 [Title/Abstract] AND BEST1 [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
TgeneBEST1

GO:0006821

chloride transport

17003041

TgeneBEST1

GO:0030321

transepithelial chloride transport

17003041


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
ChiTaRS3.1BG950652KIAA1671chr22

25473362

-BEST1chr11

61730296

+
* 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-3CDSENST00000406486ENST00000378043KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-3CDSENST00000406486ENST00000378042KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-3UTRENST00000406486ENST00000534553KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-3UTRENST00000406486ENST00000301774KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-intronENST00000406486ENST00000435278KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-intronENST00000406486ENST00000449131KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-intronENST00000406486ENST00000526988KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-3CDSENST00000358431ENST00000378043KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-3CDSENST00000358431ENST00000378042KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-3UTRENST00000358431ENST00000534553KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-3UTRENST00000358431ENST00000301774KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-intronENST00000358431ENST00000435278KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-intronENST00000358431ENST00000449131KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-intronENST00000358431ENST00000526988KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-3CDSENST00000401395ENST00000378043KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-3CDSENST00000401395ENST00000378042KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-3UTRENST00000401395ENST00000534553KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-3UTRENST00000401395ENST00000301774KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-intronENST00000401395ENST00000435278KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-intronENST00000401395ENST00000449131KIAA1671chr22

25473362

-BEST1chr11

61730296

+
intron-intronENST00000401395ENST00000526988KIAA1671chr22

25473362

-BEST1chr11

61730296

+

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FusionProtFeatures for KIAA1671_BEST1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA1671

Q9BY89

BEST1

O76090

Forms calcium-sensitive chloride channels. Highlypermeable to bicarbonate. {ECO:0000269|PubMed:11904445,ECO:0000269|PubMed:12907679, ECO:0000269|PubMed:18400985}.

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 KIAA1671_BEST1


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 KIAA1671_BEST1


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 KIAA1671_BEST1


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 KIAA1671_BEST1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBEST1C0339510Vitelliform Macular Dystrophy21CTD_human;HPO;ORPHANET;UNIPROT
TgeneBEST1C3888198BESTROPHINOPATHY, AUTOSOMAL RECESSIVE3CTD_human;ORPHANET;UNIPROT
TgeneBEST1C2750789RETINITIS PIGMENTOSA, CONCENTRIC (disorder)2CTD_human;UNIPROT
TgeneBEST1C1860406VITREORETINOCHOROIDOPATHY (disorder)1CTD_human;ORPHANET;UNIPROT