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Fusion gene ID: 34525 |
FusionGeneSummary for SLC45A2_C1QTNF3 |
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Fusion gene information | Fusion gene name: SLC45A2_C1QTNF3 | Fusion gene ID: 34525 | Hgene | Tgene | Gene symbol | SLC45A2 | C1QTNF3 | Gene ID | 51151 | 114899 |
Gene name | solute carrier family 45 member 2 | C1q and TNF related 3 | |
Synonyms | 1A1|AIM1|MATP|OCA4|SHEP5 | C1ATNF3|CORCS|CORS|CORS-26|CORS26|CTRP3 | |
Cytomap | 5p13.2 | 5p13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | membrane-associated transporter proteinmelanoma antigen AIM1protein AIM-1underwhite | complement 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 date | 20180519 | 20180519 | |
UniProtAcc | Q9UMX9 | Q9BXJ4 | |
Ensembl transtripts involved in fusion gene | ENST00000296589, ENST00000342059, ENST00000382102, ENST00000509381, ENST00000345083, | ENST00000382065, ENST00000231338, ENST00000513065, | |
Fusion gene scores | * DoF score | 3 X 1 X 3=9 | 4 X 1 X 4=16 |
# samples | 3 | 4 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | C1QTNF3 | GO:0035356 | cellular triglyceride homeostasis | 20739398 |
Tgene | C1QTNF3 | GO:0045721 | negative regulation of gluconeogenesis | 20952387 |
Tgene | C1QTNF3 | GO:0050715 | positive regulation of cytokine secretion | 18421280 |
Tgene | C1QTNF3 | GO:0050728 | negative regulation of inflammatory response | 16213490 |
Tgene | C1QTNF3 | GO:0070165 | positive regulation of adiponectin secretion | 18421280 |
Tgene | C1QTNF3 | GO:0070206 | protein trimerization | 16213490 |
Tgene | C1QTNF3 | GO:0071638 | negative regulation of monocyte chemotactic protein-1 production | 20739398 |
Tgene | C1QTNF3 | GO:1900165 | negative regulation of interleukin-6 secretion | 16213490 |
Tgene | C1QTNF3 | GO:1901223 | negative regulation of NIK/NF-kappaB signaling | 16213490 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | ESCA | TCGA-L5-A4OQ-01A | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000296589 | ENST00000382065 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
Frame-shift | ENST00000296589 | ENST00000231338 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
5CDS-intron | ENST00000296589 | ENST00000513065 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
intron-3CDS | ENST00000342059 | ENST00000382065 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
intron-3CDS | ENST00000342059 | ENST00000231338 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
intron-intron | ENST00000342059 | ENST00000513065 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
Frame-shift | ENST00000382102 | ENST00000382065 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
Frame-shift | ENST00000382102 | ENST00000231338 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
5CDS-intron | ENST00000382102 | ENST00000513065 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
Frame-shift | ENST00000509381 | ENST00000382065 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
Frame-shift | ENST00000509381 | ENST00000231338 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
5CDS-intron | ENST00000509381 | ENST00000513065 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
Frame-shift | ENST00000345083 | ENST00000382065 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
Frame-shift | ENST00000345083 | ENST00000231338 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
5CDS-intron | ENST00000345083 | ENST00000513065 | SLC45A2 | chr5 | 33982341 | - | C1QTNF3 | chr5 | 34035863 | - |
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FusionProtFeatures for SLC45A2_C1QTNF3 |
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Hgene | Tgene |
SLC45A2 | C1QTNF3 |
Melanocyte differentiation antigen. May transportsubstances required for melanin biosynthesis (By similarity).{ECO:0000250}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SLC45A2_C1QTNF3 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SLC45A2 | GAPDHS, EGFR, SQRDL, UBB, ATG9A, CYHR1, FAM63A, PCNXL3, ATP2B2, MID1IP1, GTF2E1, AMFR, TMEM63A | C1QTNF3 | COLGALT2, MAPK8IP2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SLC45A2_C1QTNF3 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SLC45A2_C1QTNF3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SLC45A2 | C1847836 | Oculocutaneous Albinism, Type IV | 5 | CTD_human;ORPHANET;UNIPROT |
Hgene | SLC45A2 | C0025202 | melanoma | 2 | CTD_human |
Hgene | SLC45A2 | C0007117 | Basal cell carcinoma | 1 | CTD_human |
Hgene | SLC45A2 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Hgene | SLC45A2 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Tgene | C1QTNF3 | C0036341 | Schizophrenia | 1 | PSYGENET |