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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: 35777

FusionGeneSummary for SPPL2B_DOT1L

check button Fusion gene summary
Fusion gene informationFusion gene name: SPPL2B_DOT1L
Fusion gene ID: 35777
HgeneTgene
Gene symbol

SPPL2B

DOT1L

Gene ID

56928

84444

Gene namesignal peptide peptidase like 2BDOT1 like histone lysine methyltransferase
SynonymsIMP-4|IMP4|PSH4|PSL1DOT1|KMT4
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionsignal peptide peptidase-like 2BSPP-like 2Bintramembrane protease 4presenilin homologous protein 4presenilin-like protein 1histone-lysine N-methyltransferase, H3 lysine-79 specificDOT1 like histone H3K79 methyltransferaseDOT1-like histone methyltransferaseDOT1-like proteinDOT1-like, histone H3 methyltransferaseH3-K79-HMTasehistone H3-K79 methyltransferasehistone methyl
Modification date2018052320180523
UniProtAcc

Q8TEK3

Ensembl transtripts involved in fusion geneENST00000452401, ENST00000398665, 
ENST00000608122, 
Fusion gene scores* DoF score5 X 5 X 3=757 X 7 X 7=343
# samples 58
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/343*10)=-2.10013667128545
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPPL2B [Title/Abstract] AND DOT1L [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
HgeneSPPL2B

GO:0006509

membrane protein ectodomain proteolysis

16829951|17965014

HgeneSPPL2B

GO:0031293

membrane protein intracellular domain proteolysis

16829951|19114711

HgeneSPPL2B

GO:0033619

membrane protein proteolysis

2313285

TgeneDOT1L

GO:0008284

positive regulation of cell proliferation

15851025

TgeneDOT1L

GO:0034729

histone H3-K79 methylation

15851025

TgeneDOT1L

GO:0045944

positive regulation of transcription by RNA polymerase II

15851025

TgeneDOT1L

GO:0046425

regulation of JAK-STAT cascade

22002246


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
TCGALDESCATCGA-L5-A4OQ-01ASPPL2Bchr19

2334720

+DOT1Lchr19

2232302

+
* 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
3UTR-3UTRENST00000452401ENST00000398665SPPL2Bchr19

2334720

+DOT1Lchr19

2232302

+
3UTR-intronENST00000452401ENST00000608122SPPL2Bchr19

2334720

+DOT1Lchr19

2232302

+

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FusionProtFeatures for SPPL2B_DOT1L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPPL2B

DOT1L

Q8TEK3

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Histone methyltransferase. Methylates 'Lys-79' ofhistone H3. Nucleosomes are preferred as substrate compared tofree histones. Binds to DNA.

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 SPPL2B_DOT1L


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 SPPL2B_DOT1L


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
SPPL2BFAM187B, SLC8A3, SYNE4, PTH1R, ATP1B4, PTCH1, LPAR1, HTR3C, PON2, SLC30A5, PIGN, KTN1, SLC30A6, SLC35G2, IGSF3, P2RX4, TMEM8A, PIGW, MTCH1, MFSD5, CDR2, GLG1, ENTPD7, NBR1, ATP9A, USP28, METTL7A, OSBPL8, TOR1A, NDUFC2, TSPAN3, TXNDC15, TMEM43, FITM2, TLCD1, EXTL2, PSME2, TMED1, ENDOD1, CHRND, BRI3BP, GHITM, TMEM186, SLC19A2, CEP44, TVP23C, UPK1A, MRS2, NDUFB1, SLC39A1, CASC4, ERGIC2, NDUFB8, SLC35F2, ABCB8, TMED9, YIPF4, SURF4, ADIPOR1, PLD6, FXYD6, SPPL3, CADM1, HTR3A, CCNYL1, GOLGA5, UQCRQ, PTPLB, PIGU, ALG10, CD300E, ERGIC3, PSEN1, LMAN2, SPINK4, MTCH2, RMND1, CD70, NR2F2, ATP1A3, TMBIM6, ACP2, MOXD1, EXTL3, MAVS, SLC52A2, SLC35B2, FAM20B, CMTM4, CHPT1, KDELR3, GPR114, YIPF6, MPPE1, COX1, GPRC5C, TMED4, SERINC1, NRN1DOT1LMLLT10, MLLT3, MLLT6, SIRT1, NPM1, HNRNPM, MLLT1, HIST1H1C, DDX21, HIST1H2BB, GRWD1, HNRNPU, HIST1H2AA, ALYREF, YBX3, SYNCRIP, GNL3, H1FX, HIST1H1A, KMT2A, AFF1, HIST2H3C, STAT1, HIST3H3, LIN28A, NANOG, BAG6, TP53, MAPK7, EBNA1BP2, IBTK, NIN, PARP16, ORC1, YEATS4, CKAP5, VWA9, RBM45, KIF24, BRINP1


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 SPPL2B_DOT1L


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 SPPL2B_DOT1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDOT1LC0152013Adenocarcinoma of lung (disorder)1CTD_human