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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: 6474

FusionGeneSummary for CDIPT_SEZ6L2

check button Fusion gene summary
Fusion gene informationFusion gene name: CDIPT_SEZ6L2
Fusion gene ID: 6474
HgeneTgene
Gene symbol

CDIPT

SEZ6L2

Gene ID

10423

26470

Gene nameCDP-diacylglycerol--inositol 3-phosphatidyltransferaseseizure related 6 homolog like 2
SynonymsPIS|PIS1BSRPA|PSK-1
Cytomap

16p11.2

16p11.2

Type of geneprotein-codingprotein-coding
DescriptionCDP-diacylglycerol--inositol 3-phosphatidyltransferasePI synthasePtdIns synthasephosphatidylinositol synthaseseizure 6-like protein 2seizure related 6-like protein 2type I transmembrane receptor (seizure-related protein)
Modification date2018052320180519
UniProtAcc

O14735

Q6UXD5

Ensembl transtripts involved in fusion geneENST00000219789, ENST00000567459, 
ENST00000561555, ENST00000566113, 
ENST00000569956, ENST00000570016, 
ENST00000563415, 
ENST00000346932, 
ENST00000350527, ENST00000308713, 
ENST00000537485, ENST00000562159, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 2=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CDIPT [Title/Abstract] AND SEZ6L2 [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
HgeneCDIPT

GO:0006661

phosphatidylinositol biosynthetic process

8110188|9407135


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
TCGARVESCATCGA-LN-A8I0-01ACDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
* 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-shiftENST00000219789ENST00000346932CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000219789ENST00000350527CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000219789ENST00000308713CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000219789ENST00000537485CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
5CDS-intronENST00000219789ENST00000562159CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
intron-3CDSENST00000567459ENST00000346932CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
intron-3CDSENST00000567459ENST00000350527CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
intron-3CDSENST00000567459ENST00000308713CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
intron-3CDSENST00000567459ENST00000537485CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
intron-intronENST00000567459ENST00000562159CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000561555ENST00000346932CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000561555ENST00000350527CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000561555ENST00000308713CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000561555ENST00000537485CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
5CDS-intronENST00000561555ENST00000562159CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000566113ENST00000346932CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000566113ENST00000350527CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000566113ENST00000308713CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000566113ENST00000537485CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
5CDS-intronENST00000566113ENST00000562159CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000569956ENST00000346932CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000569956ENST00000350527CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000569956ENST00000308713CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000569956ENST00000537485CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
5CDS-intronENST00000569956ENST00000562159CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000570016ENST00000346932CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000570016ENST00000350527CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000570016ENST00000308713CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000570016ENST00000537485CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
5CDS-intronENST00000570016ENST00000562159CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000563415ENST00000346932CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000563415ENST00000350527CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000563415ENST00000308713CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
Frame-shiftENST00000563415ENST00000537485CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-
5CDS-intronENST00000563415ENST00000562159CDIPTchr16

29871902

-SEZ6L2chr16

29885050

-

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FusionProtFeatures for CDIPT_SEZ6L2


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

O14735

SEZ6L2

Q6UXD5

Catalyzes the biosynthesis of phosphatidylinositol(PtdIns) as well as PtdIns:inositol exchange reaction. May thusact to reduce an excessive cellular PtdIns content. The exchangeactivity is due to the reverse reaction of PtdIns synthase and isdependent on CMP, which is tightly bound to the enzyme.{ECO:0000269|PubMed:8110188}. May contribute to specialized endoplasmic reticulumfunctions in neurons. {ECO:0000250}.

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 CDIPT_SEZ6L2


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 CDIPT_SEZ6L2


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
CDIPTNLRX1, SARM1, UNC93B1, RPLP1, APP, IQCB1, NOS2, UBL4A, MMS19, CLN5, ILK, STAU1, PCSK9, SDCBP, RTN3, EGFR, CAPZA2, ORC1, SAMD1, SMAP2, YTHDF1, DSCC1, TTC5, UQCC1, PTPN1, PTPN18SEZ6L2TK1, UNG, ETV5, FOXA1, OASL, LGALS8, FCN1, NTRK1, FAM19A4, IL1R2, SERPINA12


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 CDIPT_SEZ6L2


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 CDIPT_SEZ6L2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSEZ6L2C0004352Autistic Disorder1CTD_human