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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: 2739

FusionGeneSummary for ARL6_KIAA1324L

check button Fusion gene summary
Fusion gene informationFusion gene name: ARL6_KIAA1324L
Fusion gene ID: 2739
HgeneTgene
Gene symbol

ARL6

KIAA1324L

Gene ID

84100

222223

Gene nameADP ribosylation factor like GTPase 6KIAA1324 like
SynonymsBBS3|RP55EIG121L
Cytomap

3q11.2

7q21.12

Type of geneprotein-codingprotein-coding
DescriptionADP-ribosylation factor-like protein 6Bardet-Biedl syndrome 3 proteinUPF0577 protein KIAA1324-likeEIG121-likeestrogen-induced gene 121-like protein
Modification date2018052320180519
UniProtAcc

Q9H0F7

A8MWY0

Ensembl transtripts involved in fusion geneENST00000463745, ENST00000394206, 
ENST00000335979, ENST00000496713, 
ENST00000450689, ENST00000297222, 
ENST00000444627, ENST00000416314, 
ENST00000490995, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 3=27
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ARL6 [Title/Abstract] AND KIAA1324L [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
ChiTaRS3.1BP218270ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
* 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-intronENST00000463745ENST00000450689ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000463745ENST00000297222ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000463745ENST00000444627ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000463745ENST00000416314ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000463745ENST00000490995ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000394206ENST00000450689ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000394206ENST00000297222ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000394206ENST00000444627ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000394206ENST00000416314ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000394206ENST00000490995ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000335979ENST00000450689ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000335979ENST00000297222ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000335979ENST00000444627ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000335979ENST00000416314ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000335979ENST00000490995ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000496713ENST00000450689ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000496713ENST00000297222ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000496713ENST00000444627ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000496713ENST00000416314ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-
intron-intronENST00000496713ENST00000490995ARL6chr3

97483912

+KIAA1324Lchr7

86512354

-

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FusionProtFeatures for ARL6_KIAA1324L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARL6

Q9H0F7

KIAA1324L

A8MWY0

Involved in membrane protein trafficking at the base ofthe ciliary organelle. Mediates recruitment onto plasma membraneof the BBSome complex which would constitute a coat complexrequired for sorting of specific membrane proteins to the primarycilia (PubMed:20603001). Together with BBS1, is necessary forcorrect trafficking of PKD1 to primary cilia (By similarity).Together with the BBSome complex and LTZL1, controls SMO ciliarytrafficking and contributes to the sonic hedgehog (SHH) pathwayregulation (PubMed:22072986). May regulate cilia assembly anddisassembly and subsequent ciliary signaling events such as theWnt signaling cascade (PubMed:20207729). Isoform 2 may be requiredfor proper retinal function and organization (By similarity).{ECO:0000250|UniProtKB:O88848, ECO:0000269|PubMed:20207729,ECO:0000269|PubMed:20603001, ECO:0000269|PubMed:22072986}.

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 ARL6_KIAA1324L


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 ARL6_KIAA1324L


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 ARL6_KIAA1324L


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 ARL6_KIAA1324L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARL6C1859564Bardet-Biedl syndrome 34UNIPROT
HgeneARL6C3150808RETINITIS PIGMENTOSA 551CTD_human;UNIPROT