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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: 7330

FusionGeneSummary for CLCN7_IFT140

check button Fusion gene summary
Fusion gene informationFusion gene name: CLCN7_IFT140
Fusion gene ID: 7330
HgeneTgene
Gene symbol

CLCN7

IFT140

Gene ID

1186

9742

Gene namechloride voltage-gated channel 7intraflagellar transport 140
SynonymsCLC-7|CLC7|OPTA2|OPTB4|PPP1R63MZSDS|RP80|SRTD9|WDTC2|c305C8.4|c380F5.1|gs114
Cytomap

16p13.3

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionH(+)/Cl(-) exchange transporter 7chloride channel 7 alpha subunitchloride channel protein 7chloride channel, voltage-sensitive 7protein phosphatase 1, regulatory subunit 63intraflagellar transport protein 140 homologWD and tetratricopeptide repeats protein 2intraflagellar transport 140 homolog
Modification date2018052320180527
UniProtAcc

P51798

Q96RY7

Ensembl transtripts involved in fusion geneENST00000448525, ENST00000382745, 
ENST00000262318, ENST00000566812, 
ENST00000361339, ENST00000426508, 
ENST00000439987, 
Fusion gene scores* DoF score2 X 2 X 1=48 X 9 X 7=504
# samples 211
** MAII scorelog2(2/4*10)=2.32192809488736log2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CLCN7 [Title/Abstract] AND IFT140 [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
TCGARVSKCMTCGA-W3-AA1V-06BCLCN7chr16

1500498

-IFT140chr16

1614163

-
* 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-intronENST00000448525ENST00000361339CLCN7chr16

1500498

-IFT140chr16

1614163

-
5CDS-intronENST00000448525ENST00000426508CLCN7chr16

1500498

-IFT140chr16

1614163

-
5CDS-5UTRENST00000448525ENST00000439987CLCN7chr16

1500498

-IFT140chr16

1614163

-
5CDS-intronENST00000382745ENST00000361339CLCN7chr16

1500498

-IFT140chr16

1614163

-
5CDS-intronENST00000382745ENST00000426508CLCN7chr16

1500498

-IFT140chr16

1614163

-
5CDS-5UTRENST00000382745ENST00000439987CLCN7chr16

1500498

-IFT140chr16

1614163

-
5CDS-intronENST00000262318ENST00000361339CLCN7chr16

1500498

-IFT140chr16

1614163

-
5CDS-intronENST00000262318ENST00000426508CLCN7chr16

1500498

-IFT140chr16

1614163

-
5CDS-5UTRENST00000262318ENST00000439987CLCN7chr16

1500498

-IFT140chr16

1614163

-
intron-intronENST00000566812ENST00000361339CLCN7chr16

1500498

-IFT140chr16

1614163

-
intron-intronENST00000566812ENST00000426508CLCN7chr16

1500498

-IFT140chr16

1614163

-
intron-5UTRENST00000566812ENST00000439987CLCN7chr16

1500498

-IFT140chr16

1614163

-

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FusionProtFeatures for CLCN7_IFT140


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CLCN7

P51798

IFT140

Q96RY7

Slowly voltage-gated channel mediating the exchange ofchloride ions against protons. Functions as antiporter andcontributes to the acidification of the lysosome lumen.{ECO:0000269|PubMed:18449189, ECO:0000269|PubMed:21527911}. Component of the IFT complex A (IFT-A), a complexrequired for retrograde ciliary transport. Plays a pivotal role inproper development and function of ciliated cells. Involved inciliogenesis and cilia maintenance (PubMed:22503633). May play arole in ciliary assembly. Required for the development andmaintenance of the outer segments of rod and cone photoreceptorcells. Plays a role in maintenance and the delivery of opsin tothe outer segment of photoreceptor cells (By similarity).{ECO:0000250|UniProtKB:E9PY46, ECO:0000269|PubMed:22503633}.

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 CLCN7_IFT140


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 CLCN7_IFT140


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
CLCN7LGALS8, MCOLN3, LYPD3, RNF13, BIRC7, FAM177A1, TCTN3, TMEM17, TMEM216, CREB3, RAB5C, XRCC3, SLC33A1, ATP6AP2, GOLT1B, TMEM63B, FAM46A, SAMD1, CTDSPL, MBLAC2, MANSC1, CD44, PMEL, VAC14, TRIM25, UBE2A, LMNAIFT140RANBP2, NEK2, PFDN1, C11orf74, IFT122, FBXW11, CRK, IFT43, TULP3, TULP2, FEZ1, CRYL1, DNAJC7, WDR19, WDR35, PISD, TTC21B, NIPSNAP1, NTPCR, ACSL3


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 CLCN7_IFT140


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 CLCN7_IFT140


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCLCN7C1969106Osteopetrosis, Autosomal Recessive 46CTD_human;UNIPROT
HgeneCLCN7C3179239Osteopetrosis Autosomal Dominant Type 25ORPHANET;UNIPROT
TgeneIFT140C1849437Mainzer-Saldino Disease2ORPHANET;UNIPROT