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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:ZNF385D-GLB1 (FusionGDB2 ID:101281)

Fusion Gene Summary for ZNF385D-GLB1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF385D-GLB1
Fusion gene ID: 101281
HgeneTgene
Gene symbol

ZNF385D

GLB1

Gene ID

79750

2720

Gene namezinc finger protein 385Dgalactosidase beta 1
SynonymsZNF659EBP|ELNR1|MPS4B
Cytomap

3p24.3

3p22.3

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 385Dzinc finger protein 659beta-galactosidaseacid beta-galactosidaseelastin binding proteinelastin receptor 1, 67kDalactase
Modification date2020031320200313
UniProtAcc.

Q8NCI6

Ensembl transtripts involved in fusion geneENST00000494118, ENST00000281523, 
ENST00000307363, ENST00000399402, 
ENST00000445488, ENST00000307377, 
ENST00000497796, 
Fusion gene scores* DoF score7 X 7 X 3=1479 X 9 X 5=405
# samples 79
** MAII scorelog2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/405*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF385D [Title/Abstract] AND GLB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZNF385D(21792387)-GLB1(33087724), # samples:2
Anticipated loss of major functional domain due to fusion event.ZNF385D-GLB1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
ZNF385D-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
TgeneGLB1

GO:0044262

cellular carbohydrate metabolic process

11927518


check buttonFusion gene breakpoints across ZNF385D (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
ChimerDB4BRCATCGA-A8-A07C-01AZNF385Dchr3

21792387

-GLB1chr3

33087724

-
ChimerDB4BRCATCGA-A8-A07C-01AZNF385Dchr3

21792387

-GLB1chr3

33087724

-


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Fusion Gene ORF analysis for ZNF385D-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
intron-3CDSENST00000494118ENST00000307363ZNF385Dchr3

21792387

-GLB1chr3

33087724

-
intron-3CDSENST00000494118ENST00000399402ZNF385Dchr3

21792387

-GLB1chr3

33087724

-
intron-3CDSENST00000494118ENST00000445488ZNF385Dchr3

21792387

-GLB1chr3

33087724

-
intron-3CDSENST00000494118ENST00000307377ZNF385Dchr3

21792387

-GLB1chr3

33087724

-
intron-intronENST00000494118ENST00000497796ZNF385Dchr3

21792387

-GLB1chr3

33087724

-
Frame-shiftENST00000281523ENST00000307363ZNF385Dchr3

21792387

-GLB1chr3

33087724

-
Frame-shiftENST00000281523ENST00000399402ZNF385Dchr3

21792387

-GLB1chr3

33087724

-
Frame-shiftENST00000281523ENST00000445488ZNF385Dchr3

21792387

-GLB1chr3

33087724

-
Frame-shiftENST00000281523ENST00000307377ZNF385Dchr3

21792387

-GLB1chr3

33087724

-
5CDS-intronENST00000281523ENST00000497796ZNF385Dchr3

21792387

-GLB1chr3

33087724

-

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 ZNF385D-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 ZNF385D-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
.GLB1

Q8NCI6

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 ZNF385D-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 ZNF385D-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 ZNF385D-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 ZNF385D-GLB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneZNF385DC0013146Drug abuse1CTD_human
HgeneZNF385DC0013170Drug habituation1CTD_human
HgeneZNF385DC0013222Drug Use Disorders1CTD_human
HgeneZNF385DC0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneZNF385DC0038580Substance Dependence1CTD_human
HgeneZNF385DC0038586Substance Use Disorders1CTD_human
HgeneZNF385DC0236733Amphetamine-Related Disorders1CTD_human
HgeneZNF385DC0236804Amphetamine Addiction1CTD_human
HgeneZNF385DC0236807Amphetamine Abuse1CTD_human
HgeneZNF385DC0236969Substance-Related Disorders1CTD_human
HgeneZNF385DC0740858Substance abuse problem1CTD_human
HgeneZNF385DC1510472Drug Dependence1CTD_human
HgeneZNF385DC4316881Prescription Drug Abuse1CTD_human
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