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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-PMP22 (FusionGDB2 ID:21212)

Fusion Gene Summary for DAB1-PMP22

check button Fusion gene summary
Fusion gene informationFusion gene name: DAB1-PMP22
Fusion gene ID: 21212
HgeneTgene
Gene symbol

DAB1

PMP22

Gene ID

352909

5827

Gene namedynein axonemal assembly factor 3peroxisomal membrane protein 2
SynonymsC19orf51|CILD2|DAB1|PCD|PF22MPV17L3|PMP22
Cytomap

19q13.42

12q24.33

Type of geneprotein-codingprotein-coding
Descriptiondynein assembly factor 3, axonemalUPF0470 protein C19orf51peroxisomal membrane protein 222 kDa peroxisomal membrane proteinperoxisomal membrane protein 2, 22kDa
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000485760, ENST00000371236, 
ENST00000371234, ENST00000420954, 
ENST00000439789, ENST00000414851, 
ENST00000371231, ENST00000371230, 
ENST00000395938, ENST00000312280, 
ENST00000494511, ENST00000395936, 
ENST00000426385, 
Fusion gene scores* DoF score23 X 22 X 4=20246 X 6 X 2=72
# samples 217
** MAII scorelog2(21/2024*10)=-3.26874805702819
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DAB1 [Title/Abstract] AND PMP22 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDAB1(58853266)-PMP22(15142860), # 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

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 PMP22 (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
ChiTaRS5.0N/ABM720166DAB1chr1

58853266

-PMP22chr17

15142860

-


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Fusion Gene ORF analysis for DAB1-PMP22

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-3CDSENST00000485760ENST00000395938DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000485760ENST00000312280DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000485760ENST00000494511DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000485760ENST00000395936DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000485760ENST00000426385DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371236ENST00000395938DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371236ENST00000312280DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371236ENST00000494511DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371236ENST00000395936DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371236ENST00000426385DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371234ENST00000395938DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371234ENST00000312280DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371234ENST00000494511DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371234ENST00000395936DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371234ENST00000426385DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000420954ENST00000395938DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000420954ENST00000312280DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000420954ENST00000494511DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000420954ENST00000395936DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000420954ENST00000426385DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000439789ENST00000395938DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000439789ENST00000312280DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000439789ENST00000494511DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000439789ENST00000395936DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000439789ENST00000426385DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000414851ENST00000395938DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000414851ENST00000312280DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000414851ENST00000494511DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000414851ENST00000395936DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000414851ENST00000426385DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371231ENST00000395938DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371231ENST00000312280DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371231ENST00000494511DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371231ENST00000395936DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371231ENST00000426385DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371230ENST00000395938DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371230ENST00000312280DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371230ENST00000494511DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371230ENST00000395936DAB1chr1

58853266

-PMP22chr17

15142860

-
intron-3CDSENST00000371230ENST00000426385DAB1chr1

58853266

-PMP22chr17

15142860

-

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-PMP22


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 DAB1-PMP22


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
..
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: 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 DAB1-PMP22


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-PMP22


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-PMP22


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-PMP22


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDAB1C3889636SPINOCEREBELLAR ATAXIA 372GENOMICS_ENGLAND;ORPHANET
HgeneDAB1C0004352Autistic Disorder1CTD_human
TgenePMP22C0011195Dejerine-Sottas Disease (disorder)18CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgenePMP22C0270911Charcot-Marie-Tooth Disease, Type Ia (disorder)17CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePMP22C0205713Roussy-Levy Syndrome (disorder)5CTD_human;GENOMICS_ENGLAND;ORPHANET
TgenePMP22C3495591Charcot-Marie-Tooth Disease, Demyelinating, Type 1e4CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePMP22C0007959Charcot-Marie-Tooth Disease3CTD_human
TgenePMP22C0270912Charcot-Marie-Tooth Disease, Type Ib3CTD_human
TgenePMP22C0270914Hereditary Motor and Sensory-Neuropathy Type II3CTD_human
TgenePMP22C0393814Hereditary liability to pressure palsies3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgenePMP22C0751036Hereditary Motor and Sensory Neuropathy Type I3CTD_human
TgenePMP22C4721453Peripheral Nervous System Diseases2CTD_human
TgenePMP22C0008073Developmental Disabilities1CTD_human
TgenePMP22C0011303Demyelinating Diseases1CTD_human
TgenePMP22C0011304Demyelination1CTD_human
TgenePMP22C0014550Myoclonic Epilepsy1CTD_human
TgenePMP22C0016579Formication1CTD_human
TgenePMP22C0019816Hereditary, Type VII, Motor and Sensory Neuropathy1CTD_human
TgenePMP22C0023944Locked-In Syndrome1CTD_human
TgenePMP22C0027888Hereditary Motor and Sensory Neuropathies1CTD_human
TgenePMP22C0030554Paresthesia1CTD_human
TgenePMP22C0034372Quadriplegia1CTD_human
TgenePMP22C0034933Reflex, Abnormal1CTD_human
TgenePMP22C0085996Child Development Deviations1CTD_human
TgenePMP22C0085997Child Development Disorders, Specific1CTD_human
TgenePMP22C0151572Reflex, Corneal, Decreased1CTD_human
TgenePMP22C0151786Muscle Weakness1CTD_human
TgenePMP22C0151888Hyporeflexia1CTD_human
TgenePMP22C0151889Hyperreflexia1CTD_human
TgenePMP22C0234146Absent reflex1CTD_human
TgenePMP22C0234784Reflex, Gag, Absent1CTD_human
TgenePMP22C0235044Paresthesia, Distal1CTD_human
TgenePMP22C0241772Reflex, Deep Tendon, Absent1CTD_human
TgenePMP22C0270790Quadriparesis1CTD_human
TgenePMP22C0277839Hoffman's Reflex1CTD_human
TgenePMP22C0277850Reflex, Pendular1CTD_human
TgenePMP22C0278211Reflex, Corneal, Absent1CTD_human
TgenePMP22C0338478Idiopathic Myoclonic Epilepsy1CTD_human
TgenePMP22C0338479Symptomatic Myoclonic Epilepsy1CTD_human
TgenePMP22C0392699Dysesthesia1CTD_human
TgenePMP22C0393695Early Childhood Epilepsy, Myoclonic1CTD_human
TgenePMP22C0393702Myoclonic Astatic Epilepsy1CTD_human
TgenePMP22C0393703Myoclonic Absence Epilepsy1CTD_human
TgenePMP22C0426970Spastic Quadriplegia1CTD_human
TgenePMP22C0438414Myoclonic Encephalopathy1CTD_human
TgenePMP22C0522345Reflex, Acoustic, Abnormal1CTD_human
TgenePMP22C0558845Reflex, Ankle, Absent1CTD_human
TgenePMP22C0558846Reflex, Triceps, Absent1CTD_human
TgenePMP22C0558847Reflex, Biceps, Absent1CTD_human
TgenePMP22C0576612Reflex, Anal, Absent1CTD_human
TgenePMP22C0743002Abnormal Deep Tendon Reflex1CTD_human
TgenePMP22C0751120Benign Infantile Myoclonic Epilepsy1CTD_human
TgenePMP22C0751122Infantile Severe Myoclonic Epilepsy1CTD_human
TgenePMP22C0751412Painful Paresthesias1CTD_human
TgenePMP22C0751460Flaccid Quadriplegia1CTD_human
TgenePMP22C0751461Paralysis, Spinal, Quadriplegic1CTD_human
TgenePMP22C0751468Bulbocavernosus Reflex, Decreased1CTD_human
TgenePMP22C0751469Bulbocavernousus Reflex Absent1CTD_human
TgenePMP22C0751470Palmo-Mental Reflex1CTD_human
TgenePMP22C0751471Reflex, Anal, Decreased1CTD_human
TgenePMP22C0751472Reflex, Ankle, Abnormal1CTD_human
TgenePMP22C0751473Reflex, Ankle, Decreased1CTD_human
TgenePMP22C0751474Reflex, Biceps, Abnormal1CTD_human
TgenePMP22C0751475Reflex, Biceps, Decreased1CTD_human
TgenePMP22C0751476Reflex, Gag, Decreased1CTD_human
TgenePMP22C0751477Reflex, Knee, Abnormal1CTD_human
TgenePMP22C0751478Reflex, Knee, Decreased1CTD_human
TgenePMP22C0751479Reflex, Moro, Asymmetric1CTD_human
TgenePMP22C0751480Reflex, Triceps, Abnormal1CTD_human
TgenePMP22C0751481Reflex, Triceps, Decreased1CTD_human
TgenePMP22C0917800Epilepsy, Myoclonic, Infantile1CTD_human
TgenePMP22C2350037Clinically Isolated Syndrome, CNS Demyelinating1CTD_human
TgenePMP22C4551910Acute Inflammatory Demyelinating Polyneuropathy1CTD_human;ORPHANET