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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 40298

FusionGeneSummary for UBA1_LASP1

check button Fusion gene summary
Fusion gene informationFusion gene name: UBA1_LASP1
Fusion gene ID: 40298
HgeneTgene
Gene symbol

UBA1

LASP1

Gene ID

7317

3927

Gene nameubiquitin like modifier activating enzyme 1LIM and SH3 protein 1
SynonymsA1S9|A1S9T|A1ST|AMCX1|CFAP124|GXP1|POC20|SMAX2|UBA1A|UBE1|UBE1XLasp-1|MLN50
Cytomap

Xp11.3

17q12

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-like modifier-activating enzyme 1A1S9T and BN75 temperature sensitivity complementingPOC20 centriolar protein homologUBA1, ubiquitin-activating enzyme E1 homolog Atesticular secretory protein Li 63LIM and SH3 domain protein 1metastatic lymph node gene 50 protein
Modification date2018052320180522
UniProtAcc

P22314

Q14847

Ensembl transtripts involved in fusion geneENST00000377351, ENST00000335972, 
ENST00000490869, ENST00000377269, 
ENST00000318008, ENST00000433206, 
ENST00000435347, 
Fusion gene scores* DoF score7 X 8 X 2=11213 X 12 X 7=1092
# samples 816
** MAII scorelog2(8/112*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/1092*10)=-2.77082904603249
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBA1 [Title/Abstract] AND LASP1 [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
HgeneUBA1

GO:0006974

cellular response to DNA damage stimulus

22456334


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
ChiTaRS3.1BE076043UBA1chrX

47069463

-LASP1chr17

37057026

-
* 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
5CDS-intronENST00000377351ENST00000318008UBA1chrX

47069463

-LASP1chr17

37057026

-
5CDS-intronENST00000377351ENST00000433206UBA1chrX

47069463

-LASP1chr17

37057026

-
5CDS-intronENST00000377351ENST00000435347UBA1chrX

47069463

-LASP1chr17

37057026

-
5CDS-intronENST00000335972ENST00000318008UBA1chrX

47069463

-LASP1chr17

37057026

-
5CDS-intronENST00000335972ENST00000433206UBA1chrX

47069463

-LASP1chr17

37057026

-
5CDS-intronENST00000335972ENST00000435347UBA1chrX

47069463

-LASP1chr17

37057026

-
intron-intronENST00000490869ENST00000318008UBA1chrX

47069463

-LASP1chr17

37057026

-
intron-intronENST00000490869ENST00000433206UBA1chrX

47069463

-LASP1chr17

37057026

-
intron-intronENST00000490869ENST00000435347UBA1chrX

47069463

-LASP1chr17

37057026

-
5CDS-intronENST00000377269ENST00000318008UBA1chrX

47069463

-LASP1chr17

37057026

-
5CDS-intronENST00000377269ENST00000433206UBA1chrX

47069463

-LASP1chr17

37057026

-
5CDS-intronENST00000377269ENST00000435347UBA1chrX

47069463

-LASP1chr17

37057026

-

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FusionProtFeatures for UBA1_LASP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBA1

P22314

LASP1

Q14847

Catalyzes the first step in ubiquitin conjugation tomark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1606621, PubMed:1447181). Activatesubiquitin by first adenylating its C-terminal glycine residue withATP, and thereafter linking this residue to the side chain of acysteine residue in E1, yielding a ubiquitin-E1 thioester and freeAMP (PubMed:1447181). Essential for the formation of radiation-induced foci, timely DNA repair and for response to replicationstress. Promotes the recruitment of TP53BP1 and BRCA1 at DNAdamage sites (PubMed:22456334). {ECO:0000269|PubMed:1447181,ECO:0000269|PubMed:1606621, ECO:0000269|PubMed:22456334}. Plays an important role in the regulation of dynamicactin-based, cytoskeletal activities. Agonist-dependent changes inLASP1 phosphorylation may also serve to regulate actin-associatedion transport activities, not only in the parietal cell but alsoin certain other F-actin-rich secretory epithelial cell types (Bysimilarity). {ECO:0000250}.

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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FusionGeneSequence for UBA1_LASP1


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).

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FusionGenePPI for UBA1_LASP1


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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RelatedDrugs for UBA1_LASP1


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

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RelatedDiseases for UBA1_LASP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUBA1C1844934Arthrogryposis multiplex congenita, distal, X-linked2CTD_human;ORPHANET;UNIPROT
HgeneUBA1C0007137Squamous cell carcinoma1CTD_human
TgeneLASP1C0004352Autistic Disorder1CTD_human
TgeneLASP1C0036341Schizophrenia1PSYGENET