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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: 28740

FusionGeneSummary for PRKCD_SLC4A8

check button Fusion gene summary
Fusion gene informationFusion gene name: PRKCD_SLC4A8
Fusion gene ID: 28740
HgeneTgene
Gene symbol

PRKCD

SLC4A8

Gene ID

5580

9498

Gene nameprotein kinase C deltasolute carrier family 4 member 8
SynonymsALPS3|CVID9|MAY1|PKCD|nPKC-deltaNBC3|NDCBE
Cytomap

3p21.1

12q13.13

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C delta typeprotein kinase C delta VIIItyrosine-protein kinase PRKCDelectroneutral sodium bicarbonate exchanger 1electroneutral Na(+)-driven Cl-HCO3 exchangerk-NBC3solute carrier family 4, sodium bicarbonate cotransporter, member 8
Modification date2018052320180523
UniProtAcc

Q05655

Q2Y0W8

Ensembl transtripts involved in fusion geneENST00000394729, ENST00000330452, 
ENST00000477794, 
ENST00000535225, 
ENST00000358657, ENST00000453097, 
ENST00000394856, ENST00000514353, 
ENST00000546663, 
Fusion gene scores* DoF score4 X 5 X 2=403 X 3 X 3=27
# samples 53
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PRKCD [Title/Abstract] AND SLC4A8 [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
HgenePRKCD

GO:0006468

protein phosphorylation

10713049|16611985

HgenePRKCD

GO:0006915

apoptotic process

10770950

HgenePRKCD

GO:0016572

histone phosphorylation

19059439

HgenePRKCD

GO:0018105

peptidyl-serine phosphorylation

18285462

HgenePRKCD

GO:0018107

peptidyl-threonine phosphorylation

10770950

HgenePRKCD

GO:0032147

activation of protein kinase activity

10713049

HgenePRKCD

GO:0042119

neutrophil activation

10770950

HgenePRKCD

GO:0070301

cellular response to hydrogen peroxide

10713049

HgenePRKCD

GO:0071447

cellular response to hydroperoxide

19059439

HgenePRKCD

GO:1904385

cellular response to angiotensin

18285462


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
TCGALDHNSCTCGA-UF-A7JA-01APRKCDchr3

53224017

+SLC4A8chr12

51883484

+
* 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-intronENST00000394729ENST00000535225PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
5CDS-intronENST00000394729ENST00000358657PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
5CDS-intronENST00000394729ENST00000453097PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
5CDS-intronENST00000394729ENST00000394856PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
5CDS-intronENST00000394729ENST00000514353PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
5CDS-intronENST00000394729ENST00000546663PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
5CDS-intronENST00000330452ENST00000535225PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
5CDS-intronENST00000330452ENST00000358657PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
5CDS-intronENST00000330452ENST00000453097PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
5CDS-intronENST00000330452ENST00000394856PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
5CDS-intronENST00000330452ENST00000514353PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
5CDS-intronENST00000330452ENST00000546663PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
intron-intronENST00000477794ENST00000535225PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
intron-intronENST00000477794ENST00000358657PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
intron-intronENST00000477794ENST00000453097PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
intron-intronENST00000477794ENST00000394856PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
intron-intronENST00000477794ENST00000514353PRKCDchr3

53224017

+SLC4A8chr12

51883484

+
intron-intronENST00000477794ENST00000546663PRKCDchr3

53224017

+SLC4A8chr12

51883484

+

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FusionProtFeatures for PRKCD_SLC4A8


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

Q05655

SLC4A8

Q2Y0W8

Calcium-independent, phospholipid- and diacylglycerol(DAG)-dependent serine/threonine-protein kinase that playscontrasting roles in cell death and cell survival by functioningas a pro-apoptotic protein during DNA damage-induced apoptosis,but acting as an anti-apoptotic protein during cytokine receptor-initiated cell death, is involved in tumor suppression as well assurvival of several cancers, is required for oxygen radicalproduction by NADPH oxidase and acts as positive or negativeregulator in platelet functional responses. Negatively regulates Bcell proliferation and also has an important function in self-antigen induced B cell tolerance induction. Upon DNA damage,activates the promoter of the death-promoting transcription factorBCLAF1/Btf to trigger BCLAF1-mediated p53/TP53 gene transcriptionand apoptosis. In response to oxidative stress, interact with andactivate CHUK/IKKA in the nucleus, causing the phosphorylation ofp53/TP53. In the case of ER stress or DNA damage-inducedapoptosis, can form a complex with the tyrosine-protein kinaseABL1 which trigger apoptosis independently of p53/TP53. In cytosolcan trigger apoptosis by activating MAPK11 or MAPK14, inhibitingAKT1 and decreasing the level of X-linked inhibitor of apoptosisprotein (XIAP), whereas in nucleus induces apoptosis via theactivation of MAPK8 or MAPK9. Upon ionizing radiation treatment,is required for the activation of the apoptosis regulators BAX andBAK, which trigger the mitochondrial cell death pathway. Canphosphorylate MCL1 and target it for degradation which issufficient to trigger for BAX activation and apoptosis. Isrequired for the control of cell cycle progression both at G1/Sand G2/M phases. Mediates phorbol 12-myristate 13-acetate (PMA)-induced inhibition of cell cycle progression at G1/S phase by up-regulating the CDK inhibitor CDKN1A/p21 and inhibiting the cyclinCCNA2 promoter activity. In response to UV irradiation canphosphorylate CDK1, which is important for the G2/M DNA damagecheckpoint activation. Can protect glioma cells from the apoptosisinduced by TNFSF10/TRAIL, probably by inducing increasedphosphorylation and subsequent activation of AKT1. Is highlyexpressed in a number of cancer cells and promotes cell survivaland resistance against chemotherapeutic drugs by inducing cyclinD1 (CCND1) and hyperphosphorylation of RB1, and via several pro-survival pathways, including NF-kappa-B, AKT1 and MAPK1/3(ERK1/2). Can also act as tumor suppressor upon mitogenicstimulation with PMA or TPA. In N-formyl-methionyl-leucyl-phenylalanine (fMLP)-treated cells, is required for NCF1 (p47-phox) phosphorylation and activation of NADPH oxidase activity,and regulates TNF-elicited superoxide anion production inneutrophils, by direct phosphorylation and activation of NCF1 orindirectly through MAPK1/3 (ERK1/2) signaling pathways. May alsoplay a role in the regulation of NADPH oxidase activity ineosinophil after stimulation with IL5, leukotriene B4 or PMA. Incollagen-induced platelet aggregation, acts a negative regulatorof filopodia formation and actin polymerization by interactingwith and negatively regulating VASP phosphorylation. Downstream ofPAR1, PAR4 and CD36/GP4 receptors, regulates differentiallyplatelet dense granule secretion; acts as a positive regulator inPAR-mediated granule secretion, whereas it negatively regulatesCD36/GP4-mediated granule release. Phosphorylates MUC1 in the C-terminal and regulates the interaction between MUC1 and beta-catenin. The catalytic subunit phosphorylates 14-3-3 proteins(YWHAB, YWHAZ and YWHAH) in a sphingosine-dependent fashion (Bysimilarity). Phosphorylates ELAVL1 in response to angiotensin-2treatment (PubMed:18285462). {ECO:0000250,ECO:0000269|PubMed:11748588, ECO:0000269|PubMed:11877440,ECO:0000269|PubMed:15774464, ECO:0000269|PubMed:16940418,ECO:0000269|PubMed:18285462, ECO:0000269|PubMed:19587372,ECO:0000269|PubMed:19801500}.

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 PRKCD_SLC4A8


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 PRKCD_SLC4A8


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
PRKCDRASGRP3, PLSCR3, INPP5D, SHC1, RIPK4, YWHAG, PDPK1, C1QBP, GNA12, GNA13, MTOR, STAT1, PTK2B, ADAM9, INSR, PDP1, PDP2, PPP2CA, IRS1, PIK3CB, PTPN6, YWHAZ, TIAM1, PLD2, AFAP1, IL6ST, MUC1, GABRA1, CHUK, IKBKB, SP1, NFE2L2, PRKCD, HDAC5, STAT3, TRIM41, HSPB1, KLF4, VHL, HIST1H1A, TP53, IBTK, IRAK1, TRO, HIST1H1B, SNCA, NCF1, APP, ITGB2, TNFRSF1A, GSK3A, ELAVL1, PHB, SQSTM1, PRKCB, PRKCQ, DYNC1H1, HSPA4, HSP90AA1, ITPR1, MACF1, ART3, VCP, RANBP10, RANBP9, IL32, EP300, FLI1, DIABLO, PTGES3, MYC, DAB2, RPL37A, TKT, ZNF131, FXR1, DHX16, PRPF4B, PPRC1, CWC15, H2BFS, TRAPPC13, FAM192A, CHD9, BUD13, LYSMD2, ACTBL2, FYN, GRM5, NOTCH1, CARD11, TRAF6, MALT1, NGEF, TP73, MBPSLC4A8CA2, SLC9A3R1, ADCK2, ADCY3, ATP2A3, SNX14, TMEM63B, ABCC4, C1orf43, PCNXL3, SLC12A6, ULBP2, GHDC, ST7L, SLC4A7, GNB2, ATP13A2, EMC7, TMX2, EMC3, NRAS, ATG9A, TMEM63A, SLC4A2, LCLAT1, SREBF2, OMA1, FYN, UPF3B, GPR89B


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 PRKCD_SLC4A8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePRKCDQ05655DB05013Ingenol MebutateProtein kinase C delta typesmall moleculeapproved

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RelatedDiseases for PRKCD_SLC4A8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRKCDC0011853Diabetes Mellitus, Experimental1CTD_human
HgenePRKCDC0020538Hypertensive disease1CTD_human
HgenePRKCDC0021841Intestinal Neoplasms1CTD_human
HgenePRKCDC0023893Liver Cirrhosis, Experimental1CTD_human
HgenePRKCDC0036572Seizures1CTD_human
HgenePRKCDC0235032Neurotoxicity Syndromes1CTD_human
HgenePRKCDC0242422Parkinsonian Disorders1CTD_human