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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: 25748

FusionGeneSummary for PACSIN2_A4GALT

check button Fusion gene summary
Fusion gene informationFusion gene name: PACSIN2_A4GALT
Fusion gene ID: 25748
HgeneTgene
Gene symbol

PACSIN2

A4GALT

Gene ID

11252

53947

Gene nameprotein kinase C and casein kinase substrate in neurons 2alpha 1,4-galactosyltransferase (P blood group)
SynonymsSDPIIA14GALT|A4GALT1|Gb3S|P(k)|P1|P1PK|PK
Cytomap

22q13.2

22q13.2

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C and casein kinase substrate in neurons protein 2cytoplasmic phosphoprotein PACSIN2syndapin-2syndapin-IIsyndapin2lactosylceramide 4-alpha-galactosyltransferaseCD77 synthaseGB3 synthaseP blood group (P one antigen)P one antigen (P blood group)P(k) antigen synthaseP1/Pk synthaseUDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferasealpha 14-gal
Modification date2018052320180519
UniProtAcc

Q9UNF0

Q9NPC4

Ensembl transtripts involved in fusion geneENST00000337959, ENST00000263246, 
ENST00000407585, ENST00000403744, 
ENST00000402229, 
ENST00000401850, 
ENST00000249005, ENST00000381278, 
ENST00000465765, 
Fusion gene scores* DoF score16 X 9 X 8=11522 X 1 X 2=4
# samples 172
** MAII scorelog2(17/1152*10)=-2.76053406530461
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: PACSIN2 [Title/Abstract] AND A4GALT [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
HgenePACSIN2

GO:0097320

plasma membrane tubulation

23596323

TgeneA4GALT

GO:0007009

plasma membrane organization

10747952


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
TCGALDLUSCTCGA-18-5595-01APACSIN2chr22

43411027

-A4GALTchr22

43091637

-
* 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-intronENST00000337959ENST00000401850PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
5UTR-intronENST00000337959ENST00000249005PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
5UTR-intronENST00000337959ENST00000381278PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
5UTR-5UTRENST00000337959ENST00000465765PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
5UTR-intronENST00000263246ENST00000401850PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
5UTR-intronENST00000263246ENST00000249005PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
5UTR-intronENST00000263246ENST00000381278PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
5UTR-5UTRENST00000263246ENST00000465765PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
intron-intronENST00000407585ENST00000401850PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
intron-intronENST00000407585ENST00000249005PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
intron-intronENST00000407585ENST00000381278PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
intron-5UTRENST00000407585ENST00000465765PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
intron-intronENST00000403744ENST00000401850PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
intron-intronENST00000403744ENST00000249005PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
intron-intronENST00000403744ENST00000381278PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
intron-5UTRENST00000403744ENST00000465765PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
intron-intronENST00000402229ENST00000401850PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
intron-intronENST00000402229ENST00000249005PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
intron-intronENST00000402229ENST00000381278PACSIN2chr22

43411027

-A4GALTchr22

43091637

-
intron-5UTRENST00000402229ENST00000465765PACSIN2chr22

43411027

-A4GALTchr22

43091637

-

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FusionProtFeatures for PACSIN2_A4GALT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PACSIN2

Q9UNF0

A4GALT

Q9NPC4

Lipid-binding protein that is able to promote thetubulation of the phosphatidic acid-containing membranes itpreferentially binds. Plays a role in intracellular vesicle-mediated transport. Involved in the endocytosis of cell-surfacereceptors like the EGF receptor, contributing to itsinternalization in the absence of EGF stimulus. May also play arole in the formation of caveolae at the cell membrane. RecruitsDNM2 to caveolae, and thereby plays a role in caveola-mediatedendocytosis. {ECO:0000269|PubMed:21610094,ECO:0000269|PubMed:21693584, ECO:0000269|PubMed:23129763,ECO:0000269|PubMed:23236520, ECO:0000269|PubMed:23596323}. Necessary for the biosynthesis of the Pk antigen ofblood histogroup P. Catalyzes the transfer of galactose tolactosylceramide and galactosylceramide. Necessary for thesynthesis of the receptor for bacterial verotoxins.

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 PACSIN2_A4GALT


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 PACSIN2_A4GALT


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
PACSIN2PACSIN3, PACSIN1, PACSIN2, FASLG, DNM1, SYNJ1, WASL, CARS, CYFIP2, ASAP1, DNM2, HSPA1A, HSPA8, KHDRBS1, MICALL1, APBB1IP, WAS, WIPF1, SBK1, TERF1, TERF2IP, POT1, SHBG, ANKS1A, COL4A3BP, FTL, PLOD2, PTPN12, UGP2, VASN, PPP2R5C, SWAP70, MEOX2, MOV10, NXF1, COBL, COBLL1, THG1L, WIPF2, MPRIP, HSPD1, PTGES3, ST13, EWSR1, TMEM17, ERP44, CDH1, RAI14, GTF2E2, TRIM25A4GALTABHD14A, PTGFRN, ICK, FCGRT, ABHD17B, CANX


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 PACSIN2_A4GALT


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 PACSIN2_A4GALT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePACSIN2C3495559Juvenile arthritis1CTD_human
TgeneA4GALTC0006413Burkitt Lymphoma1CTD_human