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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: 442

FusionGeneSummary for ACOXL_IGKC

check button Fusion gene summary
Fusion gene informationFusion gene name: ACOXL_IGKC
Fusion gene ID: 442
HgeneTgene
Gene symbol

ACOXL

IGKC

Gene ID

55289

3514

Gene nameacyl-CoA oxidase likeimmunoglobulin kappa constant
Synonyms-HCAK1|IGKCD|Km
Cytomap

2q13

2p11.2

Type of geneprotein-codingother
Descriptionacyl-coenzyme A oxidase-like proteinacyl-CoA oxidase-like proteinimmunoglobulin kappa (invariant region)immunoglobulin kappa constant regionimmunoglobulin kappa light chain (VJ)
Modification date2018052320180523
UniProtAcc

Q9NUZ1

P01834

Ensembl transtripts involved in fusion geneENST00000389811, ENST00000439055, 
ENST00000340561, ENST00000496981, 
ENST00000390237, 
Fusion gene scores* DoF score4 X 4 X 2=3221 X 29 X 2=1218
# samples 335
** MAII scorelog2(3/32*10)=-0.0931094043914815
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(35/1218*10)=-1.799087306074
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACOXL [Title/Abstract] AND IGKC [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

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
ChiTaRS3.1BF870067ACOXLchr2

111558367

+IGKCchr2

89157059

-
* 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-3CDSENST00000389811ENST00000390237ACOXLchr2

111558367

+IGKCchr2

89157059

-
intron-3CDSENST00000439055ENST00000390237ACOXLchr2

111558367

+IGKCchr2

89157059

-
intron-3CDSENST00000340561ENST00000390237ACOXLchr2

111558367

+IGKCchr2

89157059

-
intron-3CDSENST00000496981ENST00000390237ACOXLchr2

111558367

+IGKCchr2

89157059

-

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FusionProtFeatures for ACOXL_IGKC


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

Q9NUZ1

IGKC

P01834

Constant region of immunoglobulin heavy chains.Immunoglobulins, also known as antibodies, are membrane-bound orsecreted glycoproteins produced by B lymphocytes. In therecognition phase of humoral immunity, the membrane-boundimmunoglobulins serve as receptors which, upon binding of aspecific antigen, trigger the clonal expansion and differentiationof B lymphocytes into immunoglobulins-secreting plasma cells.Secreted immunoglobulins mediate the effector phase of humoralimmunity, which results in the elimination of bound antigens(PubMed:22158414, PubMed:20176268). The antigen binding site isformed by the variable domain of one heavy chain, together withthat of its associated light chain. Thus, each immunoglobulin hastwo antigen binding sites with remarkable affinity for aparticular antigen. The variable domains are assembled by aprocess called V-(D)-J rearrangement and can then be subjected tosomatic hypermutations which, after exposure to antigen andselection, allow affinity maturation for a particular antigen(PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170,ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}.

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 ACOXL_IGKC


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 ACOXL_IGKC


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 ACOXL_IGKC


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 ACOXL_IGKC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACOXLC0023434Chronic Lymphocytic Leukemia1CTD_human
TgeneIGKCC0013374Dysgammaglobulinemia1CTD_human
TgeneIGKCC0027121Myositis1CTD_human
TgeneIGKCC3279824Kappa-Chain Deficiency1ORPHANET;UNIPROT