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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: 481

FusionGeneSummary for ACSL3_PHGDH

check button Fusion gene summary
Fusion gene informationFusion gene name: ACSL3_PHGDH
Fusion gene ID: 481
HgeneTgene
Gene symbol

ACSL3

PHGDH

Gene ID

2181

26227

Gene nameacyl-CoA synthetase long chain family member 3phosphoglycerate dehydrogenase
SynonymsACS3|FACL3|LACS 3|LACS3|PRO21943-PGDH|3PGDH|HEL-S-113|NLS|NLS1|PDG|PGAD|PGD|PGDH|PHGDHD|SERA
Cytomap

2q36.1

1p12

Type of geneprotein-codingprotein-coding
Descriptionlong-chain-fatty-acid--CoA ligase 3fatty-acid-Coenzyme A ligase, long-chain 3lignoceroyl-CoA synthaselong-chain acyl-CoA synthetase 3D-3-phosphoglycerate dehydrogenase2-oxoglutarate reductase3-phosphoglycerate dehydrogenaseepididymis secretory protein Li 113malate dehydrogenase
Modification date2018051920180523
UniProtAcc

O95573

O43175

Ensembl transtripts involved in fusion geneENST00000357430, ENST00000392066, 
ENST00000369409, ENST00000369407, 
ENST00000482968, 
Fusion gene scores* DoF score6 X 4 X 6=1447 X 4 X 5=140
# samples 77
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACSL3 [Title/Abstract] AND PHGDH [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
HgeneACSL3

GO:0044539

long-chain fatty acid import

20219900


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
TCGARVLUADTCGA-69-7979-01AACSL3chr2

223725976

+PHGDHchr1

120263793

+
* 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
5UTR-3CDSENST00000357430ENST00000369409ACSL3chr2

223725976

+PHGDHchr1

120263793

+
5UTR-3CDSENST00000357430ENST00000369407ACSL3chr2

223725976

+PHGDHchr1

120263793

+
5UTR-intronENST00000357430ENST00000482968ACSL3chr2

223725976

+PHGDHchr1

120263793

+
5UTR-3CDSENST00000392066ENST00000369409ACSL3chr2

223725976

+PHGDHchr1

120263793

+
5UTR-3CDSENST00000392066ENST00000369407ACSL3chr2

223725976

+PHGDHchr1

120263793

+
5UTR-intronENST00000392066ENST00000482968ACSL3chr2

223725976

+PHGDHchr1

120263793

+

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FusionProtFeatures for ACSL3_PHGDH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACSL3

O95573

PHGDH

O43175

Acyl-CoA synthetases (ACSL) activates long-chain fattyacids for both synthesis of cellular lipids, and degradation viabeta-oxidation. ACSL3 mediates hepatic lipogenesis (Bysimilarity). Preferentially uses myristate, laurate, arachidonateand eicosapentaenoate as substrates (By similarity). Has mainly ananabolic role in energy metabolism. Required for the incorporationof fatty acids into phosphatidylcholine, the major phospholipidlocated on the surface of VLDL (very low density lipoproteins).{ECO:0000250, ECO:0000269|PubMed:18003621}. Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of thephosphorylated L-serine biosynthesis pathway. Also catalyzes thereversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate andthe reversible oxidation of (S)-malate to oxaloacetate.{ECO:0000269|PubMed:11751922, ECO:0000269|PubMed:25406093}.

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 ACSL3_PHGDH


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 ACSL3_PHGDH


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
ACSL3SPG20, TMEM173, NDRG1, SIRT7, APP, ACSL4, MTHFD1, LYN, YES1, HIPK4, MAPK4, PPP6R1, PPP6R2, STAU1, CUL7, OBSL1, CCDC8, GNAT2, NTRK1, TCTN2, TCTN3, EVC2, TMEM17, TMEM216, KIF11, REEP5, KIF20B, TIGD6, SKA1, MCM2, ESRRB, MTMR14, TPTE, IFT140, WDR19, CYLD, TRIM25, TESPHGDHMEPCE, UBC, HDAC5, MAPK6, ISG15, FBXO25, CUL3, CUL5, CUL2, CDK2, CAND1, CHMP2B, APP, IK, SAP18, SURF4, NCSTN, SRSF10, TRA2A, SRSF11, SMARCA5, U2AF1, RPS27A, SSRP1, THRAP3, TRIM55, VTN, TCERG1, GTF3C1, VASN, U2AF2, UQCC3, PRKDC, SMU1, SRSF1, ADNP, EEF1A1, STAT1, SRSF5, SON, UTP14A, ECT2, MDC1, TRAF3IP1, FN1, CLN3, CLN5, EGFR, PIAS4, FBXO6, TARDBP, EPN1, ROM1, ITSN1, RPAP3, HUWE1, FUS, CUL7, OBSL1, CCDC8, EZH2, SUZ12, RNF2, BMI1, EPN3, RPS6KB2, ADH5, ASNS, ASS1, CCDC25, GDPGP1, GOT1, GPD1L, HNRNPA1, HSPE1, LDHB, MTHFD1, MYL6, NUDT9, PABPC1, PABPC4, NECAP1, PGAM1, PSPH, VAPA, PLIN3, PROSC, PSAT1, RAD23A, RAD23B, STIP1, TYMS, UBE2N, UBE2NL, UQCRFS1, USP7, NTRK1, XPO1, GAK, SLC33A1, KIF20A, GTSE1, TUBA1C, CRY2, MCM2, SNW1, CDC5L, OTUB1, RC3H1, NFATC1, CDC73, TRIM25, BRCA1, YAP1, HDAC6


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 ACSL3_PHGDH


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 ACSL3_PHGDH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePHGDHC1866174Phosphoglycerate Dehydrogenase Deficiency3CTD_human;UNIPROT
TgenePHGDHC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgenePHGDHC0007621Neoplastic Cell Transformation1CTD_human
TgenePHGDHC0025202melanoma1CTD_human
TgenePHGDHC0033578Prostatic Neoplasms1CTD_human
TgenePHGDHC0265218Neu-Laxova syndrome1ORPHANET;UNIPROT
TgenePHGDHC1458155Mammary Neoplasms1CTD_human