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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: 17063

FusionGeneSummary for IFI6_CTNS

check button Fusion gene summary
Fusion gene informationFusion gene name: IFI6_CTNS
Fusion gene ID: 17063
HgeneTgene
Gene symbol

IFI6

CTNS

Gene ID

2537

1497

Gene nameinterferon alpha inducible protein 6cystinosin, lysosomal cystine transporter
Synonyms6-16|FAM14C|G1P3|IFI-6-16|IFI616CTNS-LSB|PQLC4
Cytomap

1p35.3

17p13.2

Type of geneprotein-codingprotein-coding
Descriptioninterferon alpha-inducible protein 6interferon, alpha-inducible protein clone IFI-6-16interferon-induced protein 6-16cystinosincystinosis nephropathic
Modification date2018052320180527
UniProtAcc

P09912

O60931

Ensembl transtripts involved in fusion geneENST00000361157, ENST00000339145, 
ENST00000362020, 
ENST00000046640, 
ENST00000381870, ENST00000441220, 
ENST00000414524, ENST00000488623, 
ENST00000399306, 
Fusion gene scores* DoF score6 X 5 X 2=601 X 1 X 1=1
# samples 61
** MAII scorelog2(6/60*10)=0log2(1/1*10)=3.32192809488736
Context

PubMed: IFI6 [Title/Abstract] AND CTNS [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
ChiTaRS3.1AI954514IFI6chr1

27992686

+CTNSchr17

3553661

-
* 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-intronENST00000361157ENST00000046640IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000361157ENST00000381870IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000361157ENST00000441220IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000361157ENST00000414524IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000361157ENST00000488623IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-3UTRENST00000361157ENST00000399306IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000339145ENST00000046640IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000339145ENST00000381870IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000339145ENST00000441220IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000339145ENST00000414524IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000339145ENST00000488623IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-3UTRENST00000339145ENST00000399306IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000362020ENST00000046640IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000362020ENST00000381870IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000362020ENST00000441220IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000362020ENST00000414524IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-intronENST00000362020ENST00000488623IFI6chr1

27992686

+CTNSchr17

3553661

-
intron-3UTRENST00000362020ENST00000399306IFI6chr1

27992686

+CTNSchr17

3553661

-

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FusionProtFeatures for IFI6_CTNS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IFI6

P09912

CTNS

O60931

Cystine/H(+) symporter thought to transport cystine outof lysosomes. Plays an important role in melanin synthesis,possibly by preventing melanosome acidification and subsequentdegradation of tyrosinase TYR. {ECO:0000269|PubMed:22649030}.

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 IFI6_CTNS


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 IFI6_CTNS


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 IFI6_CTNS


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 IFI6_CTNS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIFI6C0000786Spontaneous abortion1CTD_human
HgeneIFI6C0021400Influenza1CTD_human
TgeneCTNSC2931187Nephropathic cystinosis10CTD_human;ORPHANET;UNIPROT
TgeneCTNSC0268626Juvenile nephropathic cystinosis (disorder)3CTD_human;ORPHANET;UNIPROT
TgeneCTNSC2931013Cystinosis, benign, nonnephropathic1CTD_human;ORPHANET;UNIPROT