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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: 34525

FusionGeneSummary for SLC45A2_C1QTNF3

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC45A2_C1QTNF3
Fusion gene ID: 34525
HgeneTgene
Gene symbol

SLC45A2

C1QTNF3

Gene ID

51151

114899

Gene namesolute carrier family 45 member 2C1q and TNF related 3
Synonyms1A1|AIM1|MATP|OCA4|SHEP5C1ATNF3|CORCS|CORS|CORS-26|CORS26|CTRP3
Cytomap

5p13.2

5p13.2

Type of geneprotein-codingprotein-coding
Descriptionmembrane-associated transporter proteinmelanoma antigen AIM1protein AIM-1underwhitecomplement C1q tumor necrosis factor-related protein 3C1q and tumor necrosis factor related protein 3cartonectincollagenous repeat-containing sequence 26 kDa proteincollagenous repeat-containing sequence of 26-kDasecretory protein CORS26
Modification date2018051920180519
UniProtAcc

Q9UMX9

Q9BXJ4

Ensembl transtripts involved in fusion geneENST00000296589, ENST00000342059, 
ENST00000382102, ENST00000509381, 
ENST00000345083, 
ENST00000382065, 
ENST00000231338, ENST00000513065, 
Fusion gene scores* DoF score3 X 1 X 3=94 X 1 X 4=16
# samples 34
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SLC45A2 [Title/Abstract] AND C1QTNF3 [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
TgeneC1QTNF3

GO:0035356

cellular triglyceride homeostasis

20739398

TgeneC1QTNF3

GO:0045721

negative regulation of gluconeogenesis

20952387

TgeneC1QTNF3

GO:0050715

positive regulation of cytokine secretion

18421280

TgeneC1QTNF3

GO:0050728

negative regulation of inflammatory response

16213490

TgeneC1QTNF3

GO:0070165

positive regulation of adiponectin secretion

18421280

TgeneC1QTNF3

GO:0070206

protein trimerization

16213490

TgeneC1QTNF3

GO:0071638

negative regulation of monocyte chemotactic protein-1 production

20739398

TgeneC1QTNF3

GO:1900165

negative regulation of interleukin-6 secretion

16213490

TgeneC1QTNF3

GO:1901223

negative regulation of NIK/NF-kappaB signaling

16213490


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
TCGARVESCATCGA-L5-A4OQ-01ASLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
* 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-shitENST00000296589ENST00000382065SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
Frame-shitENST00000296589ENST00000231338SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
5CDS-intronENST00000296589ENST00000513065SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
intron-3CDSENST00000342059ENST00000382065SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
intron-3CDSENST00000342059ENST00000231338SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
intron-intronENST00000342059ENST00000513065SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
Frame-shitENST00000382102ENST00000382065SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
Frame-shitENST00000382102ENST00000231338SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
5CDS-intronENST00000382102ENST00000513065SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
Frame-shitENST00000509381ENST00000382065SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
Frame-shitENST00000509381ENST00000231338SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
5CDS-intronENST00000509381ENST00000513065SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
Frame-shitENST00000345083ENST00000382065SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
Frame-shitENST00000345083ENST00000231338SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-
5CDS-intronENST00000345083ENST00000513065SLC45A2chr5

33982341

-C1QTNF3chr5

34035863

-

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FusionProtFeatures for SLC45A2_C1QTNF3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC45A2

Q9UMX9

C1QTNF3

Q9BXJ4

Melanocyte differentiation antigen. May transportsubstances required for melanin biosynthesis (By similarity).{ECO:0000250}.

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 SLC45A2_C1QTNF3


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 SLC45A2_C1QTNF3


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
SLC45A2GAPDHS, EGFR, SQRDL, UBB, ATG9A, CYHR1, FAM63A, PCNXL3, ATP2B2, MID1IP1, GTF2E1, AMFR, TMEM63AC1QTNF3COLGALT2, MAPK8IP2


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 SLC45A2_C1QTNF3


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 SLC45A2_C1QTNF3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC45A2C1847836Oculocutaneous Albinism, Type IV5CTD_human;ORPHANET;UNIPROT
HgeneSLC45A2C0025202melanoma2CTD_human
HgeneSLC45A2C0007117Basal cell carcinoma1CTD_human
HgeneSLC45A2C0007137Squamous cell carcinoma1CTD_human
HgeneSLC45A2C0236969Substance-Related Disorders1CTD_human
TgeneC1QTNF3C0036341Schizophrenia1PSYGENET