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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: 2703

FusionGeneSummary for ARL13B_NSUN3

check button Fusion gene summary
Fusion gene informationFusion gene name: ARL13B_NSUN3
Fusion gene ID: 2703
HgeneTgene
Gene symbol

ARL13B

NSUN3

Gene ID

200894

63899

Gene nameADP ribosylation factor like GTPase 13BNOP2/Sun RNA methyltransferase family member 3
SynonymsARL2L1|JBTS8MST077|MSTP077
Cytomap

3q11.1-q11.2

3q11.2

Type of geneprotein-codingprotein-coding
DescriptionADP-ribosylation factor-like protein 13BADP-ribosylation factor-like 13BADP-ribosylation factor-like 2-like 1ARL2-like protein 1tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrialNOL1/NOP2/Sun domain family member 3putative methyltransferase NSUN3
Modification date2018052320180523
UniProtAcc

Q3SXY8

Q9H649

Ensembl transtripts involved in fusion geneENST00000535334, ENST00000303097, 
ENST00000394222, ENST00000539730, 
ENST00000471138, ENST00000486562, 
ENST00000314622, ENST00000485793, 
Fusion gene scores* DoF score3 X 1 X 3=92 X 2 X 2=8
# samples 32
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: ARL13B [Title/Abstract] AND NSUN3 [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
TgeneNSUN3

GO:0002127

tRNA wobble base cytosine methylation

27214402|27356879|27497299


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
TCGALDLUSCTCGA-NC-A5HD-01AARL13Bchr3

93722752

+NSUN3chr3

93845055

+
* 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-shitENST00000535334ENST00000314622ARL13Bchr3

93722752

+NSUN3chr3

93845055

+
5CDS-intronENST00000535334ENST00000485793ARL13Bchr3

93722752

+NSUN3chr3

93845055

+
intron-3CDSENST00000303097ENST00000314622ARL13Bchr3

93722752

+NSUN3chr3

93845055

+
intron-intronENST00000303097ENST00000485793ARL13Bchr3

93722752

+NSUN3chr3

93845055

+
Frame-shitENST00000394222ENST00000314622ARL13Bchr3

93722752

+NSUN3chr3

93845055

+
5CDS-intronENST00000394222ENST00000485793ARL13Bchr3

93722752

+NSUN3chr3

93845055

+
intron-3CDSENST00000539730ENST00000314622ARL13Bchr3

93722752

+NSUN3chr3

93845055

+
intron-intronENST00000539730ENST00000485793ARL13Bchr3

93722752

+NSUN3chr3

93845055

+
Frame-shitENST00000471138ENST00000314622ARL13Bchr3

93722752

+NSUN3chr3

93845055

+
5CDS-intronENST00000471138ENST00000485793ARL13Bchr3

93722752

+NSUN3chr3

93845055

+
intron-3CDSENST00000486562ENST00000314622ARL13Bchr3

93722752

+NSUN3chr3

93845055

+
intron-intronENST00000486562ENST00000485793ARL13Bchr3

93722752

+NSUN3chr3

93845055

+

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FusionProtFeatures for ARL13B_NSUN3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARL13B

Q3SXY8

NSUN3

Q9H649

Cilium-specific protein required to control themicrotubule-based, ciliary axoneme structure. May act bymaintaining the association between IFT subcomplexes A and B.Binds GTP but is not able to hydrolyze it; the GTPase activityremains unclear. Required to pattern the neural tube. Involved incerebral cortex development: required for the initial formation ofa polarized radial glial scaffold, the first step in theconstruction of the cerebral cortex, by regulating ciliarysignaling. Regulates the migration and placement of postmitoticinterneurons in the developing cerebral cortex. May regulateendocytic recycling traffic; however, additional evidences arerequired to confirm these data. {ECO:0000269|PubMed:23150559}. Mitochondrial tRNA methyltransferase that mediatesmethylation of cytosine to 5-methylcytosine (m5C) at position 34of mt-tRNA(Met) (PubMed:27497299, PubMed:27214402,PubMed:27356879). mt-tRNA(Met) methylation at cytosine(34) takesplace at the wobble position of the anticodon and initiates theformation of 5-formylcytosine (f(5)c) at this position(PubMed:27497299, PubMed:27214402, PubMed:27356879). mt-tRNA(Met)containing the f(5)c modification at the wobble position enablesrecognition of the AUA codon in addition to the AUG codon,expanding codon recognition in mitochondrial translation(PubMed:27497299, PubMed:27356879). {ECO:0000269|PubMed:27214402,ECO:0000269|PubMed:27356879, ECO:0000269|PubMed:27497299}.

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 ARL13B_NSUN3


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 ARL13B_NSUN3


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
ARL13BUBE2I, MAPK14, FAM63B, TTC30A, STK25, TTC26, VAC14, IFT81, IFT46, TTI1, ARV1, FASTKD1, IFT74, IFT52, IPO11, TNPO2, ANKRD50, PDXDC1, IFT22, RAB18, TMEM17, CTDSPL, PTPRHNSUN3LRRTM1, LRFN4, THUMPD3, CD79A, TOR1AIP2, SLC2A12


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 ARL13B_NSUN3


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 ARL13B_NSUN3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARL13BC2676771JOUBERT SYNDROME 8 (disorder)2CTD_human;UNIPROT