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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: 3897

FusionGeneSummary for BBS9_AVL9

check button Fusion gene summary
Fusion gene informationFusion gene name: BBS9_AVL9
Fusion gene ID: 3897
HgeneTgene
Gene symbol

BBS9

AVL9

Gene ID

27241

23080

Gene nameBardet-Biedl syndrome 9AVL9 cell migration associated
SynonymsB1|C18|D1|PTHB1KIAA0241
Cytomap

7p14.3

7p14.3

Type of geneprotein-codingprotein-coding
Descriptionprotein PTHB1PTH-responsive osteosarcoma B1 proteinbardet-Biedl syndrome 9 proteinparathyroid hormone-responsive B1 gene proteinlate secretory pathway protein AVL9 homologAVL9 homolog (S. cerevisiase)
Modification date2018052320180523
UniProtAcc

Q3SYG4

Q8NBF6

Ensembl transtripts involved in fusion geneENST00000242067, ENST00000355070, 
ENST00000350941, ENST00000354265, 
ENST00000396127, ENST00000425508, 
ENST00000482941, 		ENST00000404479, 
ENST00000318709, ENST00000459629, 
ENST00000409301, 
Fusion gene scores* DoF score3 X 3 X 3=278 X 9 X 3=216
# samples 39
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BBS9 [Title/Abstract] AND AVL9 [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
TgeneAVL9

GO:0016477

cell migration

22595670


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
TCGARVLUADTCGA-NJ-A4YF-01ABBS9chr7

33217203

+AVL9chr7

33078454

+
* 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-shiftENST00000242067ENST00000404479BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000242067ENST00000318709BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000242067ENST00000459629BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000242067ENST00000409301BBS9chr7

33217203

+AVL9chr7

33078454

+
Frame-shiftENST00000355070ENST00000404479BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000355070ENST00000318709BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000355070ENST00000459629BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000355070ENST00000409301BBS9chr7

33217203

+AVL9chr7

33078454

+
Frame-shiftENST00000350941ENST00000404479BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000350941ENST00000318709BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000350941ENST00000459629BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000350941ENST00000409301BBS9chr7

33217203

+AVL9chr7

33078454

+
Frame-shiftENST00000354265ENST00000404479BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000354265ENST00000318709BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000354265ENST00000459629BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000354265ENST00000409301BBS9chr7

33217203

+AVL9chr7

33078454

+
Frame-shiftENST00000396127ENST00000404479BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000396127ENST00000318709BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000396127ENST00000459629BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000396127ENST00000409301BBS9chr7

33217203

+AVL9chr7

33078454

+
Frame-shiftENST00000425508ENST00000404479BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000425508ENST00000318709BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000425508ENST00000459629BBS9chr7

33217203

+AVL9chr7

33078454

+
5CDS-intronENST00000425508ENST00000409301BBS9chr7

33217203

+AVL9chr7

33078454

+
intron-3CDSENST00000482941ENST00000404479BBS9chr7

33217203

+AVL9chr7

33078454

+
intron-intronENST00000482941ENST00000318709BBS9chr7

33217203

+AVL9chr7

33078454

+
intron-intronENST00000482941ENST00000459629BBS9chr7

33217203

+AVL9chr7

33078454

+
intron-intronENST00000482941ENST00000409301BBS9chr7

33217203

+AVL9chr7

33078454

+

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FusionProtFeatures for BBS9_AVL9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BBS9

Q3SYG4

AVL9

Q8NBF6

Functions in cell migration.{ECO:0000269|PubMed:22595670}.

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 BBS9_AVL9


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 BBS9_AVL9


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
BBS9LZTFL1, L1TD1, TUBA1C, BBS1, BBS5, BBS7, NME3, TRIM44, SNX21, TTC8, BBS2, BBS4, CLUAP1AVL9HECW2, NTRK1, KLC1, NFKBIA, PER3, POT1, PARD6B, ELMSAN1, FAM19A4, TES


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 BBS9_AVL9


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 BBS9_AVL9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBBS9C0010278Craniosynostosis1CTD_human
HgeneBBS9C1859567BARDET-BIEDL SYNDROME 91UNIPROT
TgeneAVL9C3495559Juvenile arthritis1CTD_human