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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: 5140

FusionGeneSummary for CAB39L_EXOSC8

check button Fusion gene summary
Fusion gene informationFusion gene name: CAB39L_EXOSC8
Fusion gene ID: 5140
HgeneTgene
Gene symbol

CAB39L

EXOSC8

Gene ID

81617

11340

Gene namecalcium binding protein 39 likeexosome component 8
SynonymsMO25-BETA|MO2L|bA103J18.3CIP3|EAP2|OIP2|PCH1C|RRP43|Rrp43p|bA421P11.3|p9
Cytomap

13q14.2

13q13.3

Type of geneprotein-codingprotein-coding
Descriptioncalcium-binding protein 39-likeMO25betaU937-associated antigenantigen MLAA-34mo25-like proteinsarcoma antigen NY-SAR-79exosome complex component RRP43CBP-interacting protein 3OIP-2Opa interacting protein 2exosome complex exonuclease RRP43ribosomal RNA-processing protein 43
Modification date2018052320180523
UniProtAcc

Q9H9S4

Q96B26

Ensembl transtripts involved in fusion geneENST00000355854, ENST00000347776, 
ENST00000409308, ENST00000410043, 
ENST00000409130, ENST00000476943, 
ENST00000489088, ENST00000389704, 
Fusion gene scores* DoF score5 X 5 X 4=1001 X 1 X 1=1
# samples 51
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: CAB39L [Title/Abstract] AND EXOSC8 [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
TCGALDBRCATCGA-A2-A0CW-01ACAB39Lchr13

49918315

-EXOSC8chr13

37576625

+
* 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-3UTRENST00000355854ENST00000489088CAB39Lchr13

49918315

-EXOSC8chr13

37576625

+
5CDS-3UTRENST00000355854ENST00000389704CAB39Lchr13

49918315

-EXOSC8chr13

37576625

+
5CDS-3UTRENST00000347776ENST00000489088CAB39Lchr13

49918315

-EXOSC8chr13

37576625

+
5CDS-3UTRENST00000347776ENST00000389704CAB39Lchr13

49918315

-EXOSC8chr13

37576625

+
5CDS-3UTRENST00000409308ENST00000489088CAB39Lchr13

49918315

-EXOSC8chr13

37576625

+
5CDS-3UTRENST00000409308ENST00000389704CAB39Lchr13

49918315

-EXOSC8chr13

37576625

+
5CDS-3UTRENST00000410043ENST00000489088CAB39Lchr13

49918315

-EXOSC8chr13

37576625

+
5CDS-3UTRENST00000410043ENST00000389704CAB39Lchr13

49918315

-EXOSC8chr13

37576625

+
5CDS-3UTRENST00000409130ENST00000489088CAB39Lchr13

49918315

-EXOSC8chr13

37576625

+
5CDS-3UTRENST00000409130ENST00000389704CAB39Lchr13

49918315

-EXOSC8chr13

37576625

+
intron-3UTRENST00000476943ENST00000489088CAB39Lchr13

49918315

-EXOSC8chr13

37576625

+
intron-3UTRENST00000476943ENST00000389704CAB39Lchr13

49918315

-EXOSC8chr13

37576625

+

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FusionProtFeatures for CAB39L_EXOSC8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CAB39L

Q9H9S4

EXOSC8

Q96B26

Component of a complex that binds and activatesSTK11/LKB1. In the complex, required to stabilize the interactionbetween CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) andSTK11/LKB1 (By similarity). {ECO:0000250}. Non-catalytic component of the RNA exosome complex whichhas 3'->5' exoribonuclease activity and participates in amultitude of cellular RNA processing and degradation events. Inthe nucleus, the RNA exosome complex is involved in propermaturation of stable RNA species such as rRNA, snRNA and snoRNA,in the elimination of RNA processing by-products and non-coding'pervasive' transcripts, such as antisense RNA species andpromoter-upstream transcripts (PROMPTs), and of mRNAs withprocessing defects, thereby limiting or excluding their export tothe cytoplasm. The RNA exosome may be involved in Ig class switchrecombination (CSR) and/or Ig variable region somatichypermutation (SHM) by targeting AICDA deamination activity totranscribed dsDNA substrates. In the cytoplasm, the RNA exosomecomplex is involved in general mRNA turnover and specificallydegrades inherently unstable mRNAs containing AU-rich elements(AREs) within their 3' untranslated regions, and in RNAsurveillance pathways, preventing translation of aberrant mRNAs.It seems to be involved in degradation of histone mRNA. Thecatalytic inactive RNA exosome core complex of 9 subunits (Exo-9)is proposed to play a pivotal role in the binding and presentationof RNA for ribonucleolysis, and to serve as a scaffold for theassociation with catalytic subunits and accessory proteins orcomplexes. EXOSC8 binds to ARE-containing RNAs.{ECO:0000269|PubMed:16912217, ECO:0000269|PubMed:17545563}.

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 CAB39L_EXOSC8


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 CAB39L_EXOSC8


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
CAB39LBCKDK, STK11, MLH1, MX1, STRADA, CAB39, ACOT7, DCXREXOSC8LSM1, LSM7, EXOSC6, EXOSC5, UBC, VHL, EXOSC4, DIS3, DIS3L, EXOSC3, MDC1, METTL22, AICDA, FHOD1, RASSF1, MKRN1, CWC22, FOXN3, EXOSC1, EXOSC10, XRN1, XRN2, UPF2, EXOSC8, ZFP36, RPA3, RPA2, RPA1, WDR92, CRMP1, TP53, ATF2, FRG1, REL, SNRPC, TCEA2, TFAP4, USP6, COX5A, TXNDC9, OTUD4, DUSP23, FAM90A1, AEN, TXNDC17, COL23A1, MORN4, MOV10, NXF1, EXOSC7, MPHOSPH6, SKIV2L2, HBS1L, EXOSC9, ZCCHC8, EXOSC2, C1D, PXN, RBM7, IFI16, MED4, MED20, MED23, SNRPB, TMPO, DUSP13, BRCA1


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 CAB39L_EXOSC8


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 CAB39L_EXOSC8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEXOSC8C4015160PONTOCEREBELLAR HYPOPLASIA, TYPE 1C1UNIPROT