FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 17043

FusionGeneSummary for IDUA_ALS2CR12

check button Fusion gene summary
Fusion gene informationFusion gene name: IDUA_ALS2CR12
Fusion gene ID: 17043
HgeneTgene
Gene symbol

IDUA

ALS2CR12

Gene ID

3425

130540

Gene nameiduronidase, alpha-L-amyotrophic lateral sclerosis 2 chromosome region 12
SynonymsIDA|MPS1-
Cytomap

4p16.3

2q33.1

Type of geneprotein-codingprotein-coding
Descriptionalpha-L-iduronidaseamyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 proteinamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12amyotrophic lateral sclerosis 2 chromosome region candidate 12
Modification date2018052420180519
UniProtAcc

P35475

Q96Q35

Ensembl transtripts involved in fusion geneENST00000247933, ENST00000453894, 
ENST00000509744, ENST00000514224, 
ENST00000286190, ENST00000405148, 
ENST00000392257, ENST00000439709, 
ENST00000448967, 
Fusion gene scores* DoF score2 X 2 X 2=86 X 4 X 4=96
# samples 26
** MAII scorelog2(2/8*10)=1.32192809488736log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IDUA [Title/Abstract] AND ALS2CR12 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneIDUA

GO:0030209

dermatan sulfate catabolic process

24036510


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLIHCTCGA-DD-AAD5-01AIDUAchr4

981737

+ALS2CR12chr2

202154508

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-shiftENST00000247933ENST00000286190IDUAchr4

981737

+ALS2CR12chr2

202154508

-
Frame-shiftENST00000247933ENST00000405148IDUAchr4

981737

+ALS2CR12chr2

202154508

-
Frame-shiftENST00000247933ENST00000392257IDUAchr4

981737

+ALS2CR12chr2

202154508

-
Frame-shiftENST00000247933ENST00000439709IDUAchr4

981737

+ALS2CR12chr2

202154508

-
5CDS-intronENST00000247933ENST00000448967IDUAchr4

981737

+ALS2CR12chr2

202154508

-
intron-3CDSENST00000453894ENST00000286190IDUAchr4

981737

+ALS2CR12chr2

202154508

-
intron-3CDSENST00000453894ENST00000405148IDUAchr4

981737

+ALS2CR12chr2

202154508

-
intron-3CDSENST00000453894ENST00000392257IDUAchr4

981737

+ALS2CR12chr2

202154508

-
intron-3CDSENST00000453894ENST00000439709IDUAchr4

981737

+ALS2CR12chr2

202154508

-
intron-intronENST00000453894ENST00000448967IDUAchr4

981737

+ALS2CR12chr2

202154508

-
3UTR-3CDSENST00000509744ENST00000286190IDUAchr4

981737

+ALS2CR12chr2

202154508

-
3UTR-3CDSENST00000509744ENST00000405148IDUAchr4

981737

+ALS2CR12chr2

202154508

-
3UTR-3CDSENST00000509744ENST00000392257IDUAchr4

981737

+ALS2CR12chr2

202154508

-
3UTR-3CDSENST00000509744ENST00000439709IDUAchr4

981737

+ALS2CR12chr2

202154508

-
3UTR-intronENST00000509744ENST00000448967IDUAchr4

981737

+ALS2CR12chr2

202154508

-
intron-3CDSENST00000514224ENST00000286190IDUAchr4

981737

+ALS2CR12chr2

202154508

-
intron-3CDSENST00000514224ENST00000405148IDUAchr4

981737

+ALS2CR12chr2

202154508

-
intron-3CDSENST00000514224ENST00000392257IDUAchr4

981737

+ALS2CR12chr2

202154508

-
intron-3CDSENST00000514224ENST00000439709IDUAchr4

981737

+ALS2CR12chr2

202154508

-
intron-intronENST00000514224ENST00000448967IDUAchr4

981737

+ALS2CR12chr2

202154508

-

Top

FusionProtFeatures for IDUA_ALS2CR12


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

P35475

ALS2CR12

Q96Q35


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


Top

FusionGeneSequence for IDUA_ALS2CR12


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI for IDUA_ALS2CR12


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
IDUASCGB2A2ALS2CR12SULT2B1, TCL1A, STK16, TXNDC5


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


Top

RelatedDrugs for IDUA_ALS2CR12


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for IDUA_ALS2CR12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIDUAC0086431Hurler-Scheie Syndrome11ORPHANET;UNIPROT
HgeneIDUAC0086795Pfaundler-Hurler Syndrome9HPO;ORPHANET;UNIPROT
HgeneIDUAC0026708Mucopolysaccharidosis V8ORPHANET;UNIPROT
HgeneIDUAC0023786Mucopolysaccharidosis I5CTD_human