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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: 35087

FusionGeneSummary for SND1_LEP

check button Fusion gene summary
Fusion gene informationFusion gene name: SND1_LEP
Fusion gene ID: 35087
HgeneTgene
Gene symbol

SND1

LEP

Gene ID

27044

3952

Gene namestaphylococcal nuclease and tudor domain containing 1leptin
SynonymsTDRD11|Tudor-SN|p100LEPD|OB|OBS
Cytomap

7q32.1

7q32.1

Type of geneprotein-codingprotein-coding
Descriptionstaphylococcal nuclease domain-containing protein 1EBNA2 coactivator p100testis tissue sperm-binding protein Li 82Ptudor domain-containing protein 11leptinleptin (murine obesity homolog)leptin (obesity homolog, mouse)obese proteinobese, mouse, homolog ofobesity factor
Modification date2018052320180527
UniProtAcc

Q7KZF4

P41159

Ensembl transtripts involved in fusion geneENST00000354725, ENST00000467238, 
ENST00000308868, 
Fusion gene scores* DoF score13 X 14 X 7=12741 X 1 X 1=1
# samples 201
** MAII scorelog2(20/1274*10)=-2.67129337248158
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: SND1 [Title/Abstract] AND LEP [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
TgeneLEP

GO:0001525

angiogenesis

19910644|21771332

TgeneLEP

GO:0001890

placenta development

17957153

TgeneLEP

GO:0001936

regulation of endothelial cell proliferation

11460888

TgeneLEP

GO:0010507

negative regulation of autophagy

25060689

TgeneLEP

GO:0014068

positive regulation of phosphatidylinositol 3-kinase signaling

24340098

TgeneLEP

GO:0032008

positive regulation of TOR signaling

25060689

TgeneLEP

GO:0032310

prostaglandin secretion

19688109

TgeneLEP

GO:0032814

regulation of natural killer cell activation

12504075

TgeneLEP

GO:0032817

regulation of natural killer cell proliferation

12504075

TgeneLEP

GO:0042102

positive regulation of T cell proliferation

25060689

TgeneLEP

GO:0042269

regulation of natural killer cell mediated cytotoxicity

12504075

TgeneLEP

GO:0043410

positive regulation of MAPK cascade

24340098

TgeneLEP

GO:0044320

cellular response to leptin stimulus

17344214

TgeneLEP

GO:0045765

regulation of angiogenesis

11460888

TgeneLEP

GO:0046325

negative regulation of glucose import

24340098

TgeneLEP

GO:0046427

positive regulation of JAK-STAT cascade

17344214

TgeneLEP

GO:0048639

positive regulation of developmental growth

17957153

TgeneLEP

GO:0050892

intestinal absorption

24340098

TgeneLEP

GO:0050999

regulation of nitric-oxide synthase activity

15899045

TgeneLEP

GO:0051726

regulation of cell cycle

17344214

TgeneLEP

GO:0072604

interleukin-6 secretion

19688109

TgeneLEP

GO:0072606

interleukin-8 secretion

19688109

TgeneLEP

GO:1900015

regulation of cytokine production involved in inflammatory response

19688109

TgeneLEP

GO:1900745

positive regulation of p38MAPK cascade

24340098

TgeneLEP

GO:1990051

activation of protein kinase C activity

24340098


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
TCGALDPRADTCGA-HC-8264-01BSND1chr7

127347701

+LEPchr7

127892044

+
* 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-5UTRENST00000354725ENST00000308868SND1chr7

127347701

+LEPchr7

127892044

+
intron-5UTRENST00000467238ENST00000308868SND1chr7

127347701

+LEPchr7

127892044

+

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FusionProtFeatures for SND1_LEP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SND1

Q7KZF4

LEP

P41159

Functions as a bridging factor between STAT6 and thebasal transcription factor. Plays a role in PIM1 regulation of MYBactivity. Functions as a transcriptional coactivator for theEpstein-Barr virus nuclear antigen 2 (EBNA2).{ECO:0000269|PubMed:7651391}. Key player in the regulation of energy balance and bodyweight control. Once released into the circulation, has centraland peripheral effects by binding LEPR, found in many tissues,which results in the activation of several major signalingpathways (PubMed:17344214, PubMed:15899045, PubMed:19688109). Inthe hypothalamus, acts as an appetite-regulating factor thatinduces a decrease in food intake and an increase in energyconsumption by inducing anorexinogenic factors and suppressingorexigenic neuropeptides, also regulates bone mass and secretionof hypothalamo-pituitary-adrenal hormones. In the periphery,increases basal metabolism, influences reproductive function,regulates pancreatic beta-cell function and insulin secretion, ispro-angiogenic for endothelial cell and affects innate andadaptive immunity (By similarity) (PubMed:8589726,PubMed:11460888, PubMed:19688109, PubMed:24340098,PubMed:25060689). In the arcuate nucleus of the hypothalamus,activates by depolarization POMC neurons inducing FOS and SOCS3expression to release anorexigenic peptides and inhibits byhyperpolarization NPY neurons inducing SOCS3 with a consequentreduction on release of orexigenic peptides (By similarity). Inaddition to its known satiety inducing effect, has a modulatoryrole in nutrient absorption. In the intestine, reduces glucoseabsorption by enterocytes by activating PKC and leading to asequential activation of p38, PI3K and ERK signaling pathwayswhich exerts an inhibitory effect on glucose absorption(PubMed:24340098). Acts as a growth factor on certain tissues,through the activation of different signaling pathways increasesexpression of genes involved in cell cycle regulation such asCCND1, via JAK2-STAT3 pathway, or VEGFA, via MAPK1/3 and PI3K-AKT1pathways (By similarity) (PubMed:17344214). May also play anapoptotic role via JAK2-STAT3 pathway and up-regulation of BIRC5expression (PubMed:18242580). Pro-angiogenic, has mitogenicactivity on vascular endothelial cells and plays a role in matrixremodeling by regulating the expression of matrixmetalloproteinases (MMPs) and tissue inhibitors ofmetalloproteinases (TIMPs) (PubMed:11460888). In innate immunity,modulates the activity and function of neutrophils by increasingchemotaxis and the secretion of oxygen radicals. Increasesphagocytosis by macrophages and enhances secretion of pro-inflammatory mediators. Increases cytotoxic ability of NK cells(PubMed:12504075). Plays a pro-inflammatory role, in synergy withIL1B, by inducing NOS2 wich promotes the production of IL6, IL8and Prostaglandin E2, through a signaling pathway that involvesJAK2, PI3K, MAP2K1/MEK1 and MAPK14/p38 (PubMed:15899045,PubMed:19688109). In adaptive immunity, promotes the switch ofmemory T-cells towards T helper-1 cell immune responses (Bysimilarity). Increases CD4(+)CD25(-) T-cell proliferation andreduces autophagy during TCR (T-cell receptor) stimulation,through MTOR signaling pathway activation and BCL2 up-regulation(PubMed:25060689). {ECO:0000250|UniProtKB:P41160,ECO:0000250|UniProtKB:P50596, ECO:0000269|PubMed:11460888,ECO:0000269|PubMed:12504075, ECO:0000269|PubMed:15899045,ECO:0000269|PubMed:17344214, ECO:0000269|PubMed:18242580,ECO:0000269|PubMed:19688109, ECO:0000269|PubMed:24340098,ECO:0000269|PubMed:25060689, ECO:0000269|PubMed:8589726,ECO:0000305|PubMed:15122202, ECO:0000305|PubMed:25232147}.

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 SND1_LEP


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 SND1_LEP


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
SND1IKBKE, SNW1, RBPJ, GTF2E2, GTF2E1, MYB, PIM1, STAT6, POLR2A, USP22, PDPK1, PRKAA1, UBA5, LZTR1, DHX9, CREBBP, RBM39, SIRT7, CUL3, CDK2, CAND1, APP, RPS3, HNRNPM, TOMM22, RPL19, MYBBP1A, SMNDC1, RPS20, NENF, RPL4, VDAC2, ILF2, SRSF3, HNRNPU, RPN1, HNRNPR, SSR3, FN1, VCAM1, CSNK2A1, ITGA4, G3BP1, PRPF8, RNU1-1, RNU2-1, RNU4-1, RNU6-1, RNU5A-1, MAK, TARDBP, EIF3CL, RPS11, RPS2, RPS6, RPS9, DDX3X, RPL23A, RPL35, RPS16, RPS26, RPS27, RPS3A, SHFM1, LIN28A, HUWE1, RAPGEF2, MDM2, CUL7, OBSL1, CCDC8, UBE2I, ESR1, MMP28, TDRD3, TXNDC5, NTRK1, NPM1, RPL10, CNOT1, MCM2, U2AF2, CDH1, PTP4A1, MTDH, PA2G4, TRAP1, ANXA5, SNRPB2, EIF5B, GPI, IDH2, PDIA3, UBE2N, MRPL12, CRNN, ZNF207, CPNE3, CS, PYGL, SF3A3, DNAJC8, PLS3, CPSF6, NANS, SF3A1, ECHS1, SRP68, MYL12B, AIMP1, CYLD, DLD, DLST, PDHA1, SOD1, TRIM25, BRCA1, YAP1LEPA2M


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 SND1_LEP


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 SND1_LEP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSND1C0004352Autistic Disorder1CTD_human
HgeneSND1C0024121Lung Neoplasms1CTD_human
TgeneLEPC0028754Obesity13CTD_human;HPO
TgeneLEPC0038358Gastric ulcer6CTD_human
TgeneLEPC0011570Mental Depression5PSYGENET
TgeneLEPC0011581Depressive disorder5PSYGENET
TgeneLEPC0043094Weight Gain5CTD_human
TgeneLEPC0015695Fatty Liver4CTD_human
TgeneLEPC0020538Hypertensive disease4CTD_human
TgeneLEPC0236663Alcohol withdrawal syndrome3PSYGENET
TgeneLEPC0020505Hyperphagia2CTD_human;HPO
TgeneLEPC0020619Hypogonadism2CTD_human;HPO
TgeneLEPC0021655Insulin Resistance2CTD_human
TgeneLEPC0023893Liver Cirrhosis, Experimental2CTD_human
TgeneLEPC0028756Obesity, Morbid2CTD_human
TgeneLEPC0033975Psychotic Disorders2PSYGENET
TgeneLEPC0036341Schizophrenia2PSYGENET
TgeneLEPC0524620Metabolic Syndrome X2CTD_human
TgeneLEPC0556385Craving for alcohol2PSYGENET
TgeneLEPC3554224LEPTIN DEFICIENCY OR DYSFUNCTION2ORPHANET;UNIPROT
TgeneLEPC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneLEPC0002395Alzheimer's Disease1CTD_human
TgeneLEPC0004352Autistic Disorder1CTD_human
TgeneLEPC0009375Colonic Neoplasms1CTD_human
TgeneLEPC0010346Crohn Disease1CTD_human
TgeneLEPC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneLEPC0019337Heroin Dependence1CTD_human
TgeneLEPC0020443Hypercholesterolemia1CTD_human
TgeneLEPC0020459Hyperinsulinism1CTD_human;HPO
TgeneLEPC0021361Female infertility1CTD_human
TgeneLEPC0021368Inflammation1CTD_human
TgeneLEPC0027746Nerve Degeneration1CTD_human
TgeneLEPC0032460Polycystic Ovary Syndrome1CTD_human
TgeneLEPC0032617Polyuria1CTD_human
TgeneLEPC0033578Prostatic Neoplasms1CTD_human
TgeneLEPC0033687Proteinuria1CTD_human
TgeneLEPC0036572Seizures1CTD_human
TgeneLEPC0039231Tachycardia1CTD_human
TgeneLEPC0085207Gestational Diabetes1CTD_human
TgeneLEPC0085602Polydipsia1CTD_human
TgeneLEPC0149745Oral Ulcer1CTD_human
TgeneLEPC0221765Chronic schizophrenia1PSYGENET
TgeneLEPC0241910Hepatitis, Autoimmune1CTD_human
TgeneLEPC0349204Nonorganic psychosis1PSYGENET
TgeneLEPC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneLEPC0993582Arthritis, Experimental1CTD_human
TgeneLEPC1262477Weight decreased1CTD_human
TgeneLEPC1269683Major Depressive Disorder1PSYGENET
TgeneLEPC1458155Mammary Neoplasms1CTD_human