FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 35877

FusionGeneSummary for SPTLC2_SNW1

check button Fusion gene summary
Fusion gene informationFusion gene name: SPTLC2_SNW1
Fusion gene ID: 35877
HgeneTgene
Gene symbol

SPTLC2

SNW1

Gene ID

9517

22938

Gene nameserine palmitoyltransferase long chain base subunit 2SNW domain containing 1
SynonymsHSN1C|LCB2|LCB2A|NSAN1C|SPT2|hLCB2aBx42|FUN20|NCOA-62|PRPF45|Prp45|SKIIP|SKIP|SKIP1
Cytomap

14q24.3

14q24.3

Type of geneprotein-codingprotein-coding
Descriptionserine palmitoyltransferase 2LCB 2SPT 2long chain base biosynthesis protein 2aserine palmitoyltransferase, subunit IIserine-palmitoyl-CoA transferase 2SNW domain-containing protein 1SKI interacting proteinhomolog of Drosophila BX42nuclear protein SkiPnuclear receptor coactivator NCoA-62nuclear receptor coactivator, 62-kDski-interacting protein
Modification date2018051920180519
UniProtAcc

O15270

Q13573

Ensembl transtripts involved in fusion geneENST00000216484, ENST00000556264, 
ENST00000261531, ENST00000554775, 
ENST00000555761, 
Fusion gene scores* DoF score6 X 6 X 4=14415 X 4 X 12=720
# samples 716
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/720*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPTLC2 [Title/Abstract] AND SNW1 [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
HgeneSPTLC2

GO:0030148

sphingolipid biosynthetic process

25332431

HgeneSPTLC2

GO:0046513

ceramide biosynthetic process

25691431

HgeneSPTLC2

GO:1904504

positive regulation of lipophagy

25332431

TgeneSNW1

GO:0000122

negative regulation of transcription by RNA polymerase II

14985122

TgeneSNW1

GO:0000398

mRNA splicing, via spliceosome

15194481|28076346

TgeneSNW1

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

11278756

TgeneSNW1

GO:0043923

positive regulation by host of viral transcription

15905409

TgeneSNW1

GO:0045892

negative regulation of transcription, DNA-templated

10713164|15878163

TgeneSNW1

GO:0045944

positive regulation of transcription by RNA polymerase II

14985122|19934264

TgeneSNW1

GO:0048384

retinoic acid receptor signaling pathway

19934264

TgeneSNW1

GO:0048385

regulation of retinoic acid receptor signaling pathway

14985122

TgeneSNW1

GO:0070562

regulation of vitamin D receptor signaling pathway

14985122

TgeneSNW1

GO:0070564

positive regulation of vitamin D receptor signaling pathway

9632709|11514567

TgeneSNW1

GO:0071300

cellular response to retinoic acid

19934264


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
TCGARVSTADTCGA-CG-4443-01ASPTLC2chr14

78018439

-SNW1chr14

78205404

-
* 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-shitENST00000216484ENST00000261531SPTLC2chr14

78018439

-SNW1chr14

78205404

-
5CDS-intronENST00000216484ENST00000554775SPTLC2chr14

78018439

-SNW1chr14

78205404

-
5CDS-intronENST00000216484ENST00000555761SPTLC2chr14

78018439

-SNW1chr14

78205404

-
intron-3CDSENST00000556264ENST00000261531SPTLC2chr14

78018439

-SNW1chr14

78205404

-
intron-intronENST00000556264ENST00000554775SPTLC2chr14

78018439

-SNW1chr14

78205404

-
intron-intronENST00000556264ENST00000555761SPTLC2chr14

78018439

-SNW1chr14

78205404

-

Top

FusionProtFeatures for SPTLC2_SNW1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPTLC2

O15270

SNW1

Q13573

Serine palmitoyltransferase (SPT). The heterodimerformed with LCB1/SPTLC1 constitutes the catalytic core. Thecomposition of the serine palmitoyltransferase (SPT) complexdetermines the substrate preference. The SPTLC1-SPTLC2-SPTSSAcomplex shows a strong preference for C16-CoA substrate, while theSPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoAsubstrate. {ECO:0000269|PubMed:19416851,ECO:0000269|PubMed:20920666}. Involved in pre-mRNA splicing as component of thespliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346).Is required in the specific splicing of CDKN1A pre-mRNA; thefunction probably involves the recruitment of U2AF2 to the mRNA.Is proposed to recruit PPIL1 to the spliceosome. May be involvedin cyclin-D1/CCND1 mRNA stability through the SNARP complex whichassociates with both the 3'end of the CCND1 gene and its mRNA.Involved in transcriptional regulation. Modulates TGF-beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1, RB1-mediatedtranscriptional repression, and retinoid-X receptor (RXR)- andvitamin D receptor (VDR)-dependent gene transcription in a cellline-specific manner probably involving coactivators NCOA1 andGRIP1. Is involved in NOTCH1-mediated transcriptional activation.Binds to multimerized forms of Notch intracellular domain (NICD)and is proposed to recruit transcriptional coactivators such asMAML1 to form an intermediate preactivation complex whichassociates with DNA-bound CBF-1/RBPJ to form a transcriptionalactivation complex by releasing SNW1 and redundant NOTCH1 NICD.{ECO:0000269|PubMed:10644367, ECO:0000269|PubMed:11278756,ECO:0000269|PubMed:11371506, ECO:0000269|PubMed:11514567,ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12840015,ECO:0000269|PubMed:14985122, ECO:0000269|PubMed:15194481,ECO:0000269|PubMed:15905409, ECO:0000269|PubMed:18794151,ECO:0000269|PubMed:19818711, ECO:0000269|PubMed:21245387,ECO:0000269|PubMed:21460037, ECO:0000269|PubMed:28076346,ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:9632709}. (Microbial infection) Is recruited by HIV-1 Tat toTat:P-TEFb:TAR RNA complexes and is involved in Tat transcriptionby recruitment of MYC, MEN1 and TRRAP to the HIV promoter.{ECO:0000269|PubMed:15905409, ECO:0000269|PubMed:19818711}. (Microbial infection) Proposed to be involved intranscriptional activation by EBV EBNA2 of CBF-1/RBPJ-repressedpromoters. {ECO:0000269|PubMed:10644367}.

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


Top

FusionGeneSequence for SPTLC2_SNW1


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).

Top

FusionGenePPI for SPTLC2_SNW1


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
SPTLC2BCL6, NOTCH3, SPINT2, NRG1, P2RX4, FAM189A2, WBP1, EVA1C, NTRK1, HERC2, PTAR1, LRRTM1, ROM1, PTPRN, TRIM25SNW1SKI, RBPJ, CIR1, HDAC2, SIN3A, NCOR2, SND1, NOTCH1, NOTCH3, ASCC2, RB1, RBL1, RBL2, SMAD2, SMAD3, SMAD4, SKIL, VDR, PABPN1, MYOD1, RXRA, NCOA2, NCOA1, TCEA2, CCNT1, MYC, CDK9, KMT2A, MEN1, IKBKG, PCBD2, TRIM15, ZSCAN1, SRRM1, NCOR1, EP300, TADA2A, PRPF8, UBR5, ZMAT3, EFTUD2, HNRNPU, DDB1, SFPQ, DDX23, CDC5L, HSPA5, PFKL, ABCF2, TUBB4A, EEF1G, EEF1A1, TUBB1, MSH2, NR0B1, NR0B2, ACTN2, CKAP5, MAPK6, TNNT1, VAV2, SIRT7, PRKAA2, CUL3, CUL2, DAXX, LNX1, MAGEA1, TOP1, PABPC1, CWC27, DHX38, SKIV2L2, DHX15, SNRPD2, DDX5, RAD21, EIF4A3, MAGOH, NHP2L1, SART1, CTNNBL1, XAB2, SNIP1, MFAP1, ZNF830, CXorf56, TTC14, HDAC11, HECW2, AURKB, TP53, TUBGCP3, GOLGA2, TRAF1, IKZF1, MTUS2, TFIP11, PPIL1, CEP55, TEX11, RINT1, LZTS2, KRT40, NXF1, MSL1, ZDHHC17, CUL7, OBSL1, SIRT1, RARA, SUZ12, RNF2, BMI1, OCLN, SNRPA1, DHX8, TSSC4, USB1, FHL3, PPIE, WDR83, CCDC94, LUC7L2, HSPB1, NTRK1, GCN1L1, HARS, HNRNPR, PFKM, PRPF4, SEPT2, SEPT7, SNRNP200, BUD31, CDC40, CRNKL1, PFKP, PLRG1, PRPF19, SARS, TRMT6, SYF2, TTC37, VARS, MUS81, KRAS, SF3B4, SYNCRIP, CPSF4, HNRNPA0, EBNA1BP2, CLP1, CPSF6, SRSF3, HNRNPA3, RBMX, CPSF1, HNRNPA1, HNRNPAB, HNRNPD, NCBP1, PCF11, LUC7L3, PPP2R1B, PRPF40A, METTL3, SRSF2, SRSF5, SRSF6, SNRPB2, RBM10, SRSF11, DDX46, PPP1CA, LOC102724594, BCAS2, SF3A1, CHERP, SF3A3, SF3B2, DDX42, U2AF2, HNRNPK, TRUB1, CSTF3, ELAVL1, XRN2, SNW1, U2SURP, TARDBP, SF3B3, SF3B1, PRPF6, FUS, HNRNPA2B1, HNRNPC, HNRNPF, HNRNPH1, HSPA8, HNRNPM, NONO, GEMIN4, PCBP1, SF3B6, CPSF3, EXOSC10, CPSF2, LUC7L, RBM4, SRSF1, SMN1, SMN2, SNRNP70, SNRPD3, U2AF1, CPSF7, RBM17, HNRNPLL, SNRNP40, RBM39, BZW1, PDCD6IP, SNUPN, ACTR1A, CDK3, STAG1, TUBB3, SEC23B, ARFGEF2, MAGED2, COPS6, CHD3, CHD4, WDR5, PKP3, KTI12, ARAP1, CSK, DCTN1, DDX1, DHX9, DOCK1, DOCK2, MLKL, CTTN, PUF60, ACIN1, WAPAL, XPO6, DNAJC13, SRRM2, GTPBP4, XRCC6, NIPBL, SEC31B, LDLRAP1, KIAA1279, ZNF326, BABAM1, GSPT1, OLA1, PIK3R4, IK, ILK, KPNA1, MLH1, ATM, PAK1, METTL13, CDK12, POLE, ATR, APBB1IP, ATRX, PPP2R1A, KIF27, UBE2Q1, CHD7, PRKAG1, ASUN, EXOC1, CAND1, MAP2K2, MAP2K3, LRRC47, TAOK1, PURA, WIZ, BLM, NCAPG, RBM15, YTHDC2, SRP19, AURKA, TTK, VASP, VRK1, NUP37, SPATA5L1, SHOC2, FIP1L1, DIAPH3, RIOK1, USP48, FYTTD1, RAE1, COPS3, API5, AP3B1, FUBP1, CPNE3, OTULIN, BCL7C, TRIP12, GNA14, AQR, CDK1, TOX4, G3BP2, NUP153, PSMC3, ACTB, SMC4, DNM1L, TUBB, ACTR2, RAD50, TRAP1, TUBA4A, PSMC6, DDX39A, PAK4, TUBB4B, NDC80, DCTN2, CCT7, CCT4, CCT2, EXOC5, KHDRBS1, CCT8, NUDC, SEPT9, TUBGCP2, RUVBL2, SUGT1, EHD1, KIF2C, CHEK1, DDX19B, PSMC1, RBM45, COPA, COPB1, CSE1L, AP1B1, SPATA5, DFNA5, DIAPH1, DYNC1LI2, DNM2, DSP, FASN, LRWD1, FEN1, COPG1, RALY, CCT5, CNOT1, MDN1, EXOC7, SMCHD1, NCAPH, ORC6, ORC3, KIF4A, HSPA12A, INTS1, PHGDH, VPS33B, COPG2, ZNF638, FHOD1, RACGAP1, MSH6, PARVB, HDLBP, HELLS, EHD4, DNAJA1, HSP90AA1, HSP90AB1, HSPD1, ARCN1, KIF11, KPNB1, KPNA2, LIMS1, LMNA, MRE11A, MYH9, NBN, DRG1, NSF, ORC2, ORC4, ORC5, UCHL5, DDX41, GULP1, RTCB, PLEC, PLK1, PNN, POLD1, ANLN, RIF1, FANCI, DDX19A, ABCF3, WDR33, CDKN2AIP, KIF21A, FERMT1, LRRC40, SCYL2, NSUN5, IPO9, ENAH, PARVA, EXOC2, PKN2, UNC45A, PRKDC, MAP2K7, RAD18, SMARCAD1, PSMC2, PSMC4, PSMC5, PSMD1, PSMD2, PSMD3, PSMD11, PSMD12, PSMD13, WDR18, TWF1, SHROOM3, CHD8, RANBP2, RANGAP1, RBBP5, RBBP7, UPF1, RFC2, RFC3, RFC4, RFC5, EXOC4, RPA1, SRSF7, ANAPC1, EPS8L2, FAM129B, INTS3, HLTF, SPTAN1, SPTBN1, SRP54, SRP68, SRP72, TCP1, BUB1, BUB1B, TLN1, TMPO, HSP90B1, CCT3, TUBG1, UBE2N, VIM, AHNAK, DDX39B, CDC73, UBA5, MYO15B, SYMPK, SEH1L, CAPG, SMC1A, UBL4A, ARID1A, CAPZA1, PICALM, EPPK1, NUF2, MAD1L1, CUL1, SMARCA5, RUVBL1, CDC23, IQGAP1, CCNB1, HIP1R, UBE2M, BTAF1, CCT6A, SMC3, ARHGEF1, DEPDC7, ARHGEF2, BUB3, PDLIM7, TRIP13, ROCK2, CHD1L, NUP155, NCAPD2, OXSR1, CDC27, MVP, TUBA1B, EXOC3, SNRPE, DVL3, ELAVL2, C11orf57, SNRPG, KIAA1143, SNRPF, ZC3H18, CD2BP2, EAPP


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


Top

RelatedDrugs for SPTLC2_SNW1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSPTLC2O15270DB00114Pyridoxal PhosphateSerine palmitoyltransferase 2small moleculeapproved|investigational|nutraceutical

Top

RelatedDiseases for SPTLC2_SNW1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPTLC2C3150896NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC2CTD_human;UNIPROT