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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:DAB1-GORASP2 (FusionGDB2 ID:21205)

Fusion Gene Summary for DAB1-GORASP2

check button Fusion gene summary
Fusion gene informationFusion gene name: DAB1-GORASP2
Fusion gene ID: 21205
HgeneTgene
Gene symbol

DAB1

GORASP2

Gene ID

352909

26003

Gene namedynein axonemal assembly factor 3golgi reassembly stacking protein 2
SynonymsC19orf51|CILD2|DAB1|PCD|PF22GOLPH6|GRASP55|GRS2|p59
Cytomap

19q13.42

2q31.1

Type of geneprotein-codingprotein-coding
Descriptiondynein assembly factor 3, axonemalUPF0470 protein C19orf51Golgi reassembly-stacking protein 2golgi phosphoprotein 6golgi reassembly stacking protein 2, 55kDa
Modification date2020031320200327
UniProtAcc.

Q9H8Y8

Ensembl transtripts involved in fusion geneENST00000485760, ENST00000371236, 
ENST00000371234, ENST00000420954, 
ENST00000439789, ENST00000414851, 
ENST00000371231, ENST00000371230, 
ENST00000234160, ENST00000493692, 
ENST00000452526, 
Fusion gene scores* DoF score23 X 22 X 4=20249 X 6 X 3=162
# samples 217
** MAII scorelog2(21/2024*10)=-3.26874805702819
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/162*10)=-1.21056698593966
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DAB1 [Title/Abstract] AND GORASP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDAB1(58971732)-GORASP2(171804860), # samples:1
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
TgeneGORASP2

GO:0034976

response to endoplasmic reticulum stress

21884936|27062250|28067262

TgeneGORASP2

GO:0061951

establishment of protein localization to plasma membrane

28067262


check buttonFusion gene breakpoints across DAB1 (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 GORASP2 (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
ChimerDB4Non-CancerTCGA-CG-5733-11ADAB1chr1

58971732

-GORASP2chr2

171804860

+


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Fusion Gene ORF analysis for DAB1-GORASP2

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
5UTR-3CDSENST00000485760ENST00000234160DAB1chr1

58971732

-GORASP2chr2

171804860

+
5UTR-3UTRENST00000485760ENST00000493692DAB1chr1

58971732

-GORASP2chr2

171804860

+
5UTR-3UTRENST00000485760ENST00000452526DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3CDSENST00000371236ENST00000234160DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000371236ENST00000493692DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000371236ENST00000452526DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3CDSENST00000371234ENST00000234160DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000371234ENST00000493692DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000371234ENST00000452526DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3CDSENST00000420954ENST00000234160DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000420954ENST00000493692DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000420954ENST00000452526DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3CDSENST00000439789ENST00000234160DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000439789ENST00000493692DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000439789ENST00000452526DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3CDSENST00000414851ENST00000234160DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000414851ENST00000493692DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000414851ENST00000452526DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3CDSENST00000371231ENST00000234160DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000371231ENST00000493692DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000371231ENST00000452526DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3CDSENST00000371230ENST00000234160DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000371230ENST00000493692DAB1chr1

58971732

-GORASP2chr2

171804860

+
intron-3UTRENST00000371230ENST00000452526DAB1chr1

58971732

-GORASP2chr2

171804860

+

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 DAB1-GORASP2


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)
DAB1chr158971731-GORASP2chr2171804859+1.98E-060.999998
DAB1chr158971731-GORASP2chr2171804859+1.98E-060.999998

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 DAB1-GORASP2


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
.GORASP2

Q9H8Y8

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.FUNCTION: Plays a role in the assembly and membrane stacking of the Golgi cisternae, and in the process by which Golgi stacks reform after breakdown during mitosis and meiosis (PubMed:10487747, PubMed:21515684, PubMed:22523075). May regulate the intracellular transport and presentation of a defined set of transmembrane proteins, such as transmembrane TGFA (PubMed:11101516). Required for normal acrosome formation during spermiogenesis and normal male fertility, probably by promoting colocalization of JAM2 and JAM3 at contact sites between germ cells and Sertoli cells (By similarity). Mediates ER stress-induced unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936, PubMed:27062250, PubMed:28067262). {ECO:0000250|UniProtKB:Q99JX3, ECO:0000269|PubMed:10487747, ECO:0000269|PubMed:11101516, ECO:0000269|PubMed:21515684, ECO:0000269|PubMed:21884936, ECO:0000269|PubMed:22523075, ECO:0000269|PubMed:27062250, ECO:0000269|PubMed:28067262}.

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 DAB1-GORASP2


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 DAB1-GORASP2


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 DAB1-GORASP2


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 DAB1-GORASP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDAB1C3889636SPINOCEREBELLAR ATAXIA 372GENOMICS_ENGLAND;ORPHANET
HgeneDAB1C0004352Autistic Disorder1CTD_human