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Center for Computational Systems Medicine
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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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Related Drugs

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Related Diseases

Fusion gene:HINFP-GLB1 (FusionGDB2 ID:36228)

Fusion Gene Summary for HINFP-GLB1

check button Fusion gene summary
Fusion gene informationFusion gene name: HINFP-GLB1
Fusion gene ID: 36228
HgeneTgene
Gene symbol

HINFP

GLB1

Gene ID

25988

2720

Gene namehistone H4 transcription factorgalactosidase beta 1
SynonymsHiNF-P|MIZF|ZNF743EBP|ELNR1|MPS4B
Cytomap

11q23.3

3p22.3

Type of geneprotein-codingprotein-coding
Descriptionhistone H4 transcription factorMBD2 (methyl-CpG-binding protein)-interacting zinc finger proteinMBD2-interacting zinc finger 1MBD2-interacting zinc finger proteinhistone H4 gene-specific protein HiNF-Phistone nuclear factor Pmethyl-CpG-binding protebeta-galactosidaseacid beta-galactosidaseelastin binding proteinelastin receptor 1, 67kDalactase
Modification date2020031320200313
UniProtAcc

Q9BQA5

Q8NCI6

Ensembl transtripts involved in fusion geneENST00000350777, ENST00000527354, 
ENST00000527410, 
ENST00000307363, 
ENST00000399402, ENST00000445488, 
ENST00000307377, ENST00000497796, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 9 X 5=405
# samples 29
** MAII scorelog2(2/8*10)=1.32192809488736log2(9/405*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HINFP [Title/Abstract] AND GLB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHINFP(119003929)-GLB1(33095041), # samples:1
Anticipated loss of major functional domain due to fusion event.HINFP-GLB1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
HINFP-GLB1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
HINFP-GLB1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
HINFP-GLB1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
* 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
HgeneHINFP

GO:0045892

negative regulation of transcription, DNA-templated

11553631|14752047|15541338|17163457

HgeneHINFP

GO:0045893

positive regulation of transcription, DNA-templated

14585971|17163457|17974976

TgeneGLB1

GO:0044262

cellular carbohydrate metabolic process

11927518


check buttonFusion gene breakpoints across HINFP (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across GLB1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4STADTCGA-BR-8683-01AHINFPchr11

119003929

+GLB1chr3

33095041

-


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Fusion Gene ORF analysis for HINFP-GLB1

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-shiftENST00000350777ENST00000307363HINFPchr11

119003929

+GLB1chr3

33095041

-
Frame-shiftENST00000350777ENST00000399402HINFPchr11

119003929

+GLB1chr3

33095041

-
Frame-shiftENST00000350777ENST00000445488HINFPchr11

119003929

+GLB1chr3

33095041

-
Frame-shiftENST00000350777ENST00000307377HINFPchr11

119003929

+GLB1chr3

33095041

-
5CDS-intronENST00000350777ENST00000497796HINFPchr11

119003929

+GLB1chr3

33095041

-
intron-3CDSENST00000527354ENST00000307363HINFPchr11

119003929

+GLB1chr3

33095041

-
intron-3CDSENST00000527354ENST00000399402HINFPchr11

119003929

+GLB1chr3

33095041

-
intron-3CDSENST00000527354ENST00000445488HINFPchr11

119003929

+GLB1chr3

33095041

-
intron-3CDSENST00000527354ENST00000307377HINFPchr11

119003929

+GLB1chr3

33095041

-
intron-intronENST00000527354ENST00000497796HINFPchr11

119003929

+GLB1chr3

33095041

-
Frame-shiftENST00000527410ENST00000307363HINFPchr11

119003929

+GLB1chr3

33095041

-
Frame-shiftENST00000527410ENST00000399402HINFPchr11

119003929

+GLB1chr3

33095041

-
Frame-shiftENST00000527410ENST00000445488HINFPchr11

119003929

+GLB1chr3

33095041

-
Frame-shiftENST00000527410ENST00000307377HINFPchr11

119003929

+GLB1chr3

33095041

-
5CDS-intronENST00000527410ENST00000497796HINFPchr11

119003929

+GLB1chr3

33095041

-

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 HINFP-GLB1


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)

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.

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.

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Fusion Protein Features for HINFP-GLB1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q9BQA5

GLB1

Q8NCI6

FUNCTION: Transcriptional repressor that binds to the consensus sequence 5'-CGGACGTT-3' and to the RB1 promoter. Transcriptional activator that promotes histone H4 gene transcription at the G1/S phase transition in conjunction with NPAT. Also activates transcription of the ATM and PRKDC genes. Autoregulates its expression by associating with its own promoter. {ECO:0000269|PubMed:11553631, ECO:0000269|PubMed:14585971, ECO:0000269|PubMed:14752047, ECO:0000269|PubMed:15988025, ECO:0000269|PubMed:17163457, ECO:0000269|PubMed:17974976, ECO:0000269|PubMed:18850719}.

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 HINFP-GLB1


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 HINFP-GLB1


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 HINFP-GLB1


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 HINFP-GLB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGLB1C0268271Gangliosidosis, Generalized GM1, Type 1 (disorder)21CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneGLB1C0268272Gangliosidosis, Generalized GM1, Type 214CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneGLB1C0268273Gangliosidosis, Generalized GM1, Type 313CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneGLB1C0086652Mucopolysaccharidosis type IVB12CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneGLB1C0026707Mucopolysaccharidosis IV4CTD_human;GENOMICS_ENGLAND
TgeneGLB1C0086651Mucopolysaccharidosis, MPS-IV-A2CTD_human
TgeneGLB1C3179194GALNS Deficiency2CTD_human
TgeneGLB1C0005941Bone Diseases, Developmental1CTD_human
TgeneGLB1C0010038Corneal Opacity1CTD_human
TgeneGLB1C0011615Dermatitis, Atopic1CTD_human
TgeneGLB1C0011616Contact Dermatitis1CTD_human
TgeneGLB1C0013366Dyschondroplasias1CTD_human
TgeneGLB1C0025237Melnick-Needles Syndrome1CTD_human
TgeneGLB1C0026760Multiple Epiphyseal Dysplasia1CTD_human
TgeneGLB1C0029422Osteochondrodysplasias1CTD_human
TgeneGLB1C0036391Schwartz-Jampel Syndrome1CTD_human
TgeneGLB1C0036572Seizures1GENOMICS_ENGLAND
TgeneGLB1C0038015Spondyloepiphyseal Dysplasia1CTD_human
TgeneGLB1C0086196Eczema, Infantile1CTD_human
TgeneGLB1C0162351Contact hypersensitivity1CTD_human
TgeneGLB1C0432272Van Buchem disease1CTD_human
TgeneGLB1C3541456Spondyloepiphyseal Dysplasia Tarda, X-Linked1CTD_human
TgeneGLB1C4551479Schwartz-Jampel Syndrome, Type 11CTD_human