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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: 97

FusionGeneSummary for ABCA1_LAS1L

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCA1_LAS1L
Fusion gene ID: 97
HgeneTgene
Gene symbol

ABCA1

LAS1L

Gene ID

19

81887

Gene nameATP binding cassette subfamily A member 1LAS1 like, ribosome biogenesis factor
SynonymsABC-1|ABC1|CERP|HDLDT1|TGDLas1-like|WTS|dJ475B7.2
Cytomap

9q31.1

Xq12

Type of geneprotein-codingprotein-coding
DescriptionATP-binding cassette sub-family A member 1ATP-binding cassette transporter A1ATP-binding cassette, sub-family A (ABC1), member 1cholesterol efflux regulatory proteinmembrane-boundribosomal biogenesis protein LAS1Lprotein LAS1 homolog
Modification date2018052720180523
UniProtAcc

O95477

Q9Y4W2

Ensembl transtripts involved in fusion geneENST00000374736, ENST00000494467, 
ENST00000423487, ENST00000374733, 
ENST00000374807, ENST00000374811, 
ENST00000374804, ENST00000312391, 
Fusion gene scores* DoF score11 X 7 X 7=5392 X 2 X 1=4
# samples 102
** MAII scorelog2(10/539*10)=-2.43028527297778
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: ABCA1 [Title/Abstract] AND LAS1L [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
HgeneABCA1

GO:0007040

lysosome organization

15163665

HgeneABCA1

GO:0008203

cholesterol metabolic process

14747463

HgeneABCA1

GO:0016197

endosomal transport

14747463

HgeneABCA1

GO:0033344

cholesterol efflux

10431236|11162594|23931754

HgeneABCA1

GO:0033700

phospholipid efflux

10431236|11162594

HgeneABCA1

GO:0042632

cholesterol homeostasis

10431236

HgeneABCA1

GO:0045332

phospholipid translocation

24097981


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
ChiTaRS3.1AK130814ABCA1chr9

107576733

-LAS1LchrX

64737950

-
* 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
intron-3CDSENST00000374736ENST00000374807ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3CDSENST00000374736ENST00000374811ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3CDSENST00000374736ENST00000374804ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3UTRENST00000374736ENST00000312391ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3CDSENST00000494467ENST00000374807ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3CDSENST00000494467ENST00000374811ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3CDSENST00000494467ENST00000374804ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3UTRENST00000494467ENST00000312391ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3CDSENST00000423487ENST00000374807ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3CDSENST00000423487ENST00000374811ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3CDSENST00000423487ENST00000374804ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3UTRENST00000423487ENST00000312391ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3CDSENST00000374733ENST00000374807ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3CDSENST00000374733ENST00000374811ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3CDSENST00000374733ENST00000374804ABCA1chr9

107576733

-LAS1LchrX

64737950

-
intron-3UTRENST00000374733ENST00000312391ABCA1chr9

107576733

-LAS1LchrX

64737950

-

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FusionProtFeatures for ABCA1_LAS1L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ABCA1

O95477

LAS1L

Q9Y4W2

Involved in the biogenesis of the 60S ribosomal subunit.Required for maturation of the 28S rRNA. Functions as a componentof the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMCcomplex is recruited to ZNF148 by methylated CHTOP, leading todesumoylation of ZNF148 and subsequent transactivation of ZNF148target genes. {ECO:0000269|PubMed:20647540,ECO:0000269|PubMed:22872859}.

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 ABCA1_LAS1L


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 ABCA1_LAS1L


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 ABCA1_LAS1L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneABCA1O95477DB01016GlyburideATP-binding cassette sub-family A member 1small moleculeapproved
HgeneABCA1O95477DB01599ProbucolATP-binding cassette sub-family A member 1small moleculeapproved|investigational

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RelatedDiseases for ABCA1_LAS1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABCA1C0039292Tangier Disease19CTD_human;ORPHANET;UNIPROT
HgeneABCA1C1704429Hypoalphalipoproteinemia, Familial4ORPHANET;UNIPROT
HgeneABCA1C2931838Familial HDL deficiency2CTD_human
HgeneABCA1C0004153Atherosclerosis1CTD_human
HgeneABCA1C0009404Colorectal Neoplasms1CTD_human
HgeneABCA1C0020443Hypercholesterolemia1CTD_human
HgeneABCA1C0020445Hypercholesterolemia, Familial1CTD_human
HgeneABCA1C0022661Kidney Failure, Chronic1CTD_human
HgeneABCA1C0031117Peripheral Neuropathy1CTD_human
HgeneABCA1C0036341Schizophrenia1PSYGENET