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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Fusion gene:HEXA-BBS4 (FusionGDB2 ID:HG3073TG585)

Fusion Gene Summary for HEXA-BBS4

check button Fusion gene summary
Fusion gene informationFusion gene name: HEXA-BBS4
Fusion gene ID: hg3073tg585
HgeneTgene
Gene symbol

HEXA

BBS4

Gene ID

3073

585

Gene namehexosaminidase subunit alphaBardet-Biedl syndrome 4
SynonymsTSD-
Cytomap('HEXA')('BBS4')

15q23

15q24.1

Type of geneprotein-codingprotein-coding
Descriptionbeta-hexosaminidase subunit alphaN-acetyl-beta-glucosaminidase subunit alphabeta-N-acetylhexosaminidase subunit alphahexosaminidase A (alpha polypeptide)hexosaminidase subunit ABardet-Biedl syndrome 4 protein
Modification date2020031520200313
UniProtAcc

P06865

Q96RK4

Ensembl transtripts involved in fusion geneENST00000268097, ENST00000566304, 
ENST00000567159, ENST00000429918, 
ENST00000457859, ENST00000567213, 
Fusion gene scores* DoF score7 X 7 X 3=1474 X 7 X 3=84
# samples 84
** MAII scorelog2(8/147*10)=-0.877744249949002
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/84*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HEXA [Title/Abstract] AND BBS4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHEXA(72668060)-BBS4(72987517), # samples:2
HEXA(72668060)-BBS4(73002040), # samples:2
HEXA(72668061)-BBS4(72987518), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneHEXA

GO:0006024

glycosaminoglycan biosynthetic process

25645918



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LUSCTCGA-L3-A524-01AHEXAchr15

72668060

-BBS4chr15

72987517

+
ChimerDB4LUSCTCGA-L3-A524-01AHEXAchr15

72668060

-BBS4chr15

73002040

+
ChimerDB4LUSCTCGA-L3-A524-01AHEXAchr15

72668061

-BBS4chr15

72987518

+
ChimerDB4LUSCTCGA-L3-A524HEXAchr15

72668060

-BBS4chr15

72987517

+
ChimerDB4LUSCTCGA-L3-A524HEXAchr15

72668060

-BBS4chr15

73002040

+
ChimerDB4LUSCTCGA-L3-A524HEXAchr15

72668061

-BBS4chr15

72978035

+
ChimerDB4LUSCTCGA-L3-A524HEXAchr15

72668061

-BBS4chr15

72987518

+
ChimerDB4LUSCTCGA-L3-A524HEXAchr15

72668061

-BBS4chr15

73002041

+


Top

Fusion Gene ORF analysis for HEXA-BBS4

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
5CDS-3UTRENST00000268097ENST00000564239HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-3UTRENST00000268097ENST00000564239HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-3UTRENST00000268097ENST00000564239HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-3UTRENST00000268097ENST00000564239HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-3UTRENST00000566304ENST00000564239HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-3UTRENST00000566304ENST00000564239HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-3UTRENST00000566304ENST00000564239HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-3UTRENST00000566304ENST00000564239HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-3UTRENST00000567159ENST00000564239HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-3UTRENST00000567159ENST00000564239HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-3UTRENST00000567159ENST00000564239HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-3UTRENST00000567159ENST00000564239HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-5UTRENST00000268097ENST00000268057HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-5UTRENST00000268097ENST00000268057HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-5UTRENST00000268097ENST00000395205HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-5UTRENST00000268097ENST00000395205HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-5UTRENST00000268097ENST00000395205HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-5UTRENST00000268097ENST00000395205HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-5UTRENST00000268097ENST00000539603HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-5UTRENST00000268097ENST00000539603HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-5UTRENST00000268097ENST00000539603HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-5UTRENST00000268097ENST00000539603HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-5UTRENST00000268097ENST00000542334HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-5UTRENST00000268097ENST00000542334HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-5UTRENST00000566304ENST00000268057HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-5UTRENST00000566304ENST00000268057HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-5UTRENST00000566304ENST00000395205HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-5UTRENST00000566304ENST00000395205HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-5UTRENST00000566304ENST00000395205HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-5UTRENST00000566304ENST00000395205HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-5UTRENST00000566304ENST00000539603HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-5UTRENST00000566304ENST00000539603HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-5UTRENST00000566304ENST00000539603HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-5UTRENST00000566304ENST00000539603HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-5UTRENST00000566304ENST00000542334HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-5UTRENST00000566304ENST00000542334HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-5UTRENST00000567159ENST00000268057HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-5UTRENST00000567159ENST00000268057HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-5UTRENST00000567159ENST00000395205HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-5UTRENST00000567159ENST00000395205HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-5UTRENST00000567159ENST00000395205HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-5UTRENST00000567159ENST00000395205HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-5UTRENST00000567159ENST00000539603HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-5UTRENST00000567159ENST00000539603HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-5UTRENST00000567159ENST00000539603HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-5UTRENST00000567159ENST00000539603HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-5UTRENST00000567159ENST00000542334HEXAchr15

72668060

-BBS4chr15

73002040

+
5CDS-5UTRENST00000567159ENST00000542334HEXAchr15

72668061

-BBS4chr15

73002041

+
5CDS-intronENST00000268097ENST00000268057HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-intronENST00000268097ENST00000268057HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000268097ENST00000268057HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-intronENST00000268097ENST00000395205HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000268097ENST00000539603HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000268097ENST00000542334HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-intronENST00000268097ENST00000542334HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000268097ENST00000542334HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-intronENST00000268097ENST00000564239HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000566304ENST00000268057HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-intronENST00000566304ENST00000268057HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000566304ENST00000268057HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-intronENST00000566304ENST00000395205HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000566304ENST00000539603HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000566304ENST00000542334HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-intronENST00000566304ENST00000542334HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000566304ENST00000542334HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-intronENST00000566304ENST00000564239HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000567159ENST00000268057HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-intronENST00000567159ENST00000268057HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000567159ENST00000268057HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-intronENST00000567159ENST00000395205HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000567159ENST00000539603HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000567159ENST00000542334HEXAchr15

72668060

-BBS4chr15

72987517

+
5CDS-intronENST00000567159ENST00000542334HEXAchr15

72668061

-BBS4chr15

72978035

+
5CDS-intronENST00000567159ENST00000542334HEXAchr15

72668061

-BBS4chr15

72987518

+
5CDS-intronENST00000567159ENST00000564239HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-3UTRENST00000429918ENST00000564239HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-3UTRENST00000429918ENST00000564239HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-3UTRENST00000429918ENST00000564239HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-3UTRENST00000429918ENST00000564239HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-3UTRENST00000457859ENST00000564239HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-3UTRENST00000457859ENST00000564239HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-3UTRENST00000457859ENST00000564239HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-3UTRENST00000457859ENST00000564239HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-3UTRENST00000567213ENST00000564239HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-3UTRENST00000567213ENST00000564239HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-3UTRENST00000567213ENST00000564239HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-3UTRENST00000567213ENST00000564239HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-5UTRENST00000429918ENST00000268057HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-5UTRENST00000429918ENST00000268057HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-5UTRENST00000429918ENST00000395205HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-5UTRENST00000429918ENST00000395205HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-5UTRENST00000429918ENST00000395205HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-5UTRENST00000429918ENST00000395205HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-5UTRENST00000429918ENST00000539603HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-5UTRENST00000429918ENST00000539603HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-5UTRENST00000429918ENST00000539603HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-5UTRENST00000429918ENST00000539603HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-5UTRENST00000429918ENST00000542334HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-5UTRENST00000429918ENST00000542334HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-5UTRENST00000457859ENST00000268057HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-5UTRENST00000457859ENST00000268057HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-5UTRENST00000457859ENST00000395205HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-5UTRENST00000457859ENST00000395205HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-5UTRENST00000457859ENST00000395205HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-5UTRENST00000457859ENST00000395205HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-5UTRENST00000457859ENST00000539603HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-5UTRENST00000457859ENST00000539603HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-5UTRENST00000457859ENST00000539603HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-5UTRENST00000457859ENST00000539603HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-5UTRENST00000457859ENST00000542334HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-5UTRENST00000457859ENST00000542334HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-5UTRENST00000567213ENST00000268057HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-5UTRENST00000567213ENST00000268057HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-5UTRENST00000567213ENST00000395205HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-5UTRENST00000567213ENST00000395205HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-5UTRENST00000567213ENST00000395205HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-5UTRENST00000567213ENST00000395205HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-5UTRENST00000567213ENST00000539603HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-5UTRENST00000567213ENST00000539603HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-5UTRENST00000567213ENST00000539603HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-5UTRENST00000567213ENST00000539603HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-5UTRENST00000567213ENST00000542334HEXAchr15

72668060

-BBS4chr15

73002040

+
5UTR-5UTRENST00000567213ENST00000542334HEXAchr15

72668061

-BBS4chr15

73002041

+
5UTR-intronENST00000429918ENST00000268057HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-intronENST00000429918ENST00000268057HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000429918ENST00000268057HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-intronENST00000429918ENST00000395205HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000429918ENST00000539603HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000429918ENST00000542334HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-intronENST00000429918ENST00000542334HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000429918ENST00000542334HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-intronENST00000429918ENST00000564239HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000457859ENST00000268057HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-intronENST00000457859ENST00000268057HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000457859ENST00000268057HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-intronENST00000457859ENST00000395205HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000457859ENST00000539603HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000457859ENST00000542334HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-intronENST00000457859ENST00000542334HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000457859ENST00000542334HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-intronENST00000457859ENST00000564239HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000567213ENST00000268057HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-intronENST00000567213ENST00000268057HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000567213ENST00000268057HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-intronENST00000567213ENST00000395205HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000567213ENST00000539603HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000567213ENST00000542334HEXAchr15

72668060

-BBS4chr15

72987517

+
5UTR-intronENST00000567213ENST00000542334HEXAchr15

72668061

-BBS4chr15

72978035

+
5UTR-intronENST00000567213ENST00000542334HEXAchr15

72668061

-BBS4chr15

72987518

+
5UTR-intronENST00000567213ENST00000564239HEXAchr15

72668061

-BBS4chr15

72978035

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for HEXA-BBS4


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
HEXAchr1572668060-BBS4chr1572987517+6.92E-091
HEXAchr1572668060-BBS4chr1573002040+7.79E-101
HEXAchr1572668060-BBS4chr1572987517+6.92E-091
HEXAchr1572668060-BBS4chr1573002040+7.79E-101
HEXAchr1572668060-BBS4chr1572987517+6.92E-091
HEXAchr1572668060-BBS4chr1573002040+7.79E-101
HEXAchr1572668060-BBS4chr1572987517+6.92E-091
HEXAchr1572668060-BBS4chr1573002040+7.79E-101

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for HEXA-BBS4


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:72668060/:72987517)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

P06865

BBS4

Q96RK4

FUNCTION: Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides (PubMed:11707436, PubMed:9694901, PubMed:8672428, PubMed:8123671). The isozyme S is as active as the isozyme A on the anionic bis-sulfated glycans, the chondroitin-6-sulfate trisaccharide (C6S-3), and the dermatan sulfate pentasaccharide, and the sulfated glycosphingolipid SM2 (PubMed:11707436). The isozyme B does not hydrolyze each of these substrates, however hydrolyzes efficiently neutral oligosaccharide (PubMed:11707436). Only the isozyme A is responsible for the degradation of GM2 gangliosides in the presence of GM2A (PubMed:9694901, PubMed:8672428, PubMed:8123671). {ECO:0000269|PubMed:11707436, ECO:0000269|PubMed:8123671, ECO:0000269|PubMed:8672428, ECO:0000269|PubMed:9694901}.FUNCTION: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. {ECO:0000269|PubMed:15107855, ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.

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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Fusion Gene Sequence for HEXA-BBS4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for HEXA-BBS4


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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Related Drugs for HEXA-BBS4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for HEXA-BBS4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHEXAC0039373Tay-Sachs Disease31CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneHEXAC0020796Profound Mental Retardation1CTD_human
HgeneHEXAC0025363Mental Retardation, Psychosocial1CTD_human
HgeneHEXAC0282220Amaurotic Familial Idiocy1CTD_human
HgeneHEXAC0917816Mental deficiency1CTD_human
HgeneHEXAC1848922Hexosaminidase alpha-Subunit Deficiency (Variant B)1CTD_human
HgeneHEXAC3714756Intellectual Disability1CTD_human
TgeneC2936864Bardet-Biedl syndrome 4 (disorder)6CTD_human;GENOMICS_ENGLAND;UNIPROT