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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: 35691

FusionGeneSummary for SPIN1_DAPK1

check button Fusion gene summary
Fusion gene informationFusion gene name: SPIN1_DAPK1
Fusion gene ID: 35691
HgeneTgene
Gene symbol

SPIN1

DAPK1

Gene ID

83985

1612

Gene namesphingolipid transporter 1 (putative)death associated protein kinase 1
SynonymsHSpin1|LAT|PP2030|SPIN1|SPINL|nrsDAPK|ROCO3
Cytomap

16p11.2

9q21.33

Type of geneprotein-codingprotein-coding
Descriptionprotein spinster homolog 1SPNS sphingolipid transporter 1 (putative)spinster homolog 1spinster-like protein 1death-associated protein kinase 1DAP kinase 1
Modification date2018052220180523
UniProtAcc

Q9Y657

P53355

Ensembl transtripts involved in fusion geneENST00000375859, ENST00000541629, 
ENST00000469017, 
ENST00000358077, 
ENST00000472284, ENST00000469640, 
ENST00000408954, ENST00000491893, 
ENST00000466188, 
Fusion gene scores* DoF score4 X 4 X 3=485 X 4 X 5=100
# samples 55
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPIN1 [Title/Abstract] AND DAPK1 [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
TgeneDAPK1

GO:0006468

protein phosphorylation

10629061

TgeneDAPK1

GO:0017148

negative regulation of translation

18995835

TgeneDAPK1

GO:0035556

intracellular signal transduction

10629061

TgeneDAPK1

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

16132846

TgeneDAPK1

GO:0046777

protein autophosphorylation

10629061|12730201

TgeneDAPK1

GO:0071346

cellular response to interferon-gamma

18995835


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
TCGARVKIRCTCGA-B8-A8YJ-01ASPIN1chr9

91003453

+DAPK1chr9

90283512

+
* 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-3CDSENST00000375859ENST00000358077SPIN1chr9

91003453

+DAPK1chr9

90283512

+
5UTR-3CDSENST00000375859ENST00000472284SPIN1chr9

91003453

+DAPK1chr9

90283512

+
5UTR-3CDSENST00000375859ENST00000469640SPIN1chr9

91003453

+DAPK1chr9

90283512

+
5UTR-3CDSENST00000375859ENST00000408954SPIN1chr9

91003453

+DAPK1chr9

90283512

+
5UTR-3CDSENST00000375859ENST00000491893SPIN1chr9

91003453

+DAPK1chr9

90283512

+
5UTR-3UTRENST00000375859ENST00000466188SPIN1chr9

91003453

+DAPK1chr9

90283512

+
5UTR-3CDSENST00000541629ENST00000358077SPIN1chr9

91003453

+DAPK1chr9

90283512

+
5UTR-3CDSENST00000541629ENST00000472284SPIN1chr9

91003453

+DAPK1chr9

90283512

+
5UTR-3CDSENST00000541629ENST00000469640SPIN1chr9

91003453

+DAPK1chr9

90283512

+
5UTR-3CDSENST00000541629ENST00000408954SPIN1chr9

91003453

+DAPK1chr9

90283512

+
5UTR-3CDSENST00000541629ENST00000491893SPIN1chr9

91003453

+DAPK1chr9

90283512

+
5UTR-3UTRENST00000541629ENST00000466188SPIN1chr9

91003453

+DAPK1chr9

90283512

+
3UTR-3CDSENST00000469017ENST00000358077SPIN1chr9

91003453

+DAPK1chr9

90283512

+
3UTR-3CDSENST00000469017ENST00000472284SPIN1chr9

91003453

+DAPK1chr9

90283512

+
3UTR-3CDSENST00000469017ENST00000469640SPIN1chr9

91003453

+DAPK1chr9

90283512

+
3UTR-3CDSENST00000469017ENST00000408954SPIN1chr9

91003453

+DAPK1chr9

90283512

+
3UTR-3CDSENST00000469017ENST00000491893SPIN1chr9

91003453

+DAPK1chr9

90283512

+
3UTR-3UTRENST00000469017ENST00000466188SPIN1chr9

91003453

+DAPK1chr9

90283512

+

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FusionProtFeatures for SPIN1_DAPK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPIN1

Q9Y657

DAPK1

P53355

Chromatin reader that specifically recognizes and bindshistone H3 both trimethylated at 'Lys-4' and asymmetricallydimethylated at 'Arg-8' (H3K4me3 and H3R8me2a) and acts as anactivator of Wnt signaling pathway downstream of PRMT2. In case ofcancer, promotes cell cancer proliferation via activation of theWnt signaling pathway (PubMed:24589551). Overexpression inducesmetaphase arrest and chromosomal instability. Localizes to activerDNA loci and promotes the expression of rRNA genes(PubMed:21960006). May play a role in cell-cycle regulation duringthe transition from gamete to embryo. Involved in oocyte meioticresumption, a process that takes place before ovulation to resumemeiosis of oocytes blocked in prophase I: may act by regulatingmaternal transcripts to control meiotic resumption.{ECO:0000269|PubMed:21960006, ECO:0000269|PubMed:22258766,ECO:0000269|PubMed:24589551, ECO:0000269|PubMed:29061846}. Calcium/calmodulin-dependent serine/threonine kinaseinvolved in multiple cellular signaling pathways that trigger cellsurvival, apoptosis, and autophagy. Regulates both type Iapoptotic and type II autophagic cell deaths signal, depending onthe cellular setting. The former is caspase-dependent, while thelatter is caspase-independent and is characterized by theaccumulation of autophagic vesicles. Phosphorylates PIN1 resultingin inhibition of its catalytic activity, nuclear localization, andcellular function. Phosphorylates TPM1, enhancing stress fiberformation in endothelial cells. Phosphorylates STX1A andsignificantly decreases its binding to STXBP1. PhosphorylatesPRKD1 and regulates JNK signaling by binding and activating PRKD1under oxidative stress. Phosphorylates BECN1, reducing itsinteraction with BCL2 and BCL2L1 and promoting the induction ofautophagy. Phosphorylates TSC2, disrupting the TSC1-TSC2 complexand stimulating mTORC1 activity in a growth factor-dependentpathway. Phosphorylates RPS6, MYL9 and DAPK3. Acts as a signalingamplifier of NMDA receptors at extrasynaptic sites for mediatingbrain damage in stroke. Cerebral ischemia recruits DAPK1 into theNMDA receptor complex and it phosphorylates GRINB at Ser-1303inducing injurious Ca(2+) influx through NMDA receptor channels,resulting in an irreversible neuronal death. Required togetherwith DAPK3 for phosphorylation of RPL13A upon interferon-gammaactivation which is causing RPL13A involvement in transcript-selective translation inhibition. Isoform 2 cannot induce apoptosis but can inducemembrane blebbing.

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 SPIN1_DAPK1


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 SPIN1_DAPK1


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
SPIN1AGO3, ELAVL1, ARRB1, ARRB2, TCF3, GRK5, EIF4A3, MAGOH, SMURF1, YWHAE, UBL4A, NPM1, BAG3, PRMT6, SPIN2B, SPIN4, SUPT16H, BCLAF1, THRAP3, CGGBP1, SSRP1, YRDC, C11orf84, MCM2, ZGPAT, SF3A3, SCNM1, TOPORS, PAX3, HSPB1, HIST1H3E, GAN, CRBN, DUSP8, ZNF324B, C17orf89, CYLD, HSD17B10, SOD1, VDAC1DAPK1TNFRSF1A, KRIT1, FADD, YWHAQ, TP53, HSP90AA1, ST13, CCNDBP1, IKBKG, KLHL20, CUL3, LNX1, CALM1, MIB1, DAPK1, LRRK2, LRRK1, MDM2, MAPK3, MAPK1, MYL12B, BECN1, PDCD6, PPP2R2D, PPP2R5A, PPP2CA, PPP2R1A, ACTC1, TTLL3, BAG2, CAPZA2, CAPZB, CORO1C, DDX5, EEF2, IFI30, MYO1B, MYO1D, SVIL, TMOD3, TPM3, TWF1, TSC2, TSC1, UNC5B, PPP2R1B, UNC5A, UNC5C, IVNS1ABP, ERP44


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 SPIN1_DAPK1


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 SPIN1_DAPK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDAPK1C0001418Adenocarcinoma1CTD_human
TgeneDAPK1C0006118Brain Neoplasms1CTD_human
TgeneDAPK1C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneDAPK1C0007134Renal Cell Carcinoma1CTD_human
TgeneDAPK1C0007138Carcinoma, Transitional Cell1CTD_human
TgeneDAPK1C0009759Conjunctival Diseases1CTD_human
TgeneDAPK1C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneDAPK1C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneDAPK1C0024121Lung Neoplasms1CTD_human
TgeneDAPK1C0027627Neoplasm Metastasis1CTD_human
TgeneDAPK1C0031117Peripheral Neuropathy1CTD_human
TgeneDAPK1C0035242Respiratory Tract Diseases1CTD_human
TgeneDAPK1C0036095Salivary Gland Neoplasms1CTD_human
TgeneDAPK1C0085183Neoplasms, Second Primary1CTD_human
TgeneDAPK1C3463824MYELODYSPLASTIC SYNDROME1CTD_human
TgeneDAPK1C3495559Juvenile arthritis1CTD_human