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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: 12472

FusionGeneSummary for FAM107B_PRKCQ

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM107B_PRKCQ
Fusion gene ID: 12472
HgeneTgene
Gene symbol

FAM107B

PRKCQ

Gene ID

83641

5588

Gene namefamily with sequence similarity 107 member Bprotein kinase C theta
SynonymsC10orf45|HITSPRKCT|nPKC-theta
Cytomap

10p13

10p15.1

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM107BFAM107B/CDNF fusionheat shock-inducible tumor small proteinprotein kinase C theta type
Modification date2018051920180523
UniProtAcc

Q9H098

Q04759

Ensembl transtripts involved in fusion geneENST00000181796, ENST00000378470, 
ENST00000468747, ENST00000378467, 
ENST00000378465, ENST00000378458, 
ENST00000478076, ENST00000378462, 
ENST00000496330, ENST00000479731, 
ENST00000471815, 
ENST00000263125, 
ENST00000397176, ENST00000539722, 
Fusion gene scores* DoF score5 X 5 X 2=503 X 3 X 3=27
# samples 56
** MAII scorelog2(5/50*10)=0log2(6/27*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FAM107B [Title/Abstract] AND PRKCQ [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
TgenePRKCQ

GO:0051092

positive regulation of NF-kappaB transcription factor activity

16356855


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
TCGALDDLBCTCGA-FA-A86F-01AFAM107Bchr10

14646239

-PRKCQchr10

6540520

-
* 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
intron-3CDSENST00000181796ENST00000263125FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000181796ENST00000397176FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000181796ENST00000539722FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000378470ENST00000263125FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000378470ENST00000397176FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000378470ENST00000539722FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
5UTR-3CDSENST00000468747ENST00000263125FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
5UTR-3CDSENST00000468747ENST00000397176FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
5UTR-3CDSENST00000468747ENST00000539722FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
5UTR-3CDSENST00000378467ENST00000263125FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
5UTR-3CDSENST00000378467ENST00000397176FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
5UTR-3CDSENST00000378467ENST00000539722FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000378465ENST00000263125FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000378465ENST00000397176FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000378465ENST00000539722FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000378458ENST00000263125FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000378458ENST00000397176FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000378458ENST00000539722FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000478076ENST00000263125FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000478076ENST00000397176FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000478076ENST00000539722FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000378462ENST00000263125FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000378462ENST00000397176FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000378462ENST00000539722FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000496330ENST00000263125FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000496330ENST00000397176FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000496330ENST00000539722FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000479731ENST00000263125FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000479731ENST00000397176FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
intron-3CDSENST00000479731ENST00000539722FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
5UTR-3CDSENST00000471815ENST00000263125FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
5UTR-3CDSENST00000471815ENST00000397176FAM107Bchr10

14646239

-PRKCQchr10

6540520

-
5UTR-3CDSENST00000471815ENST00000539722FAM107Bchr10

14646239

-PRKCQchr10

6540520

-

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FusionProtFeatures for FAM107B_PRKCQ


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM107B

Q9H098

PRKCQ

Q04759

Calcium-independent, phospholipid- and diacylglycerol(DAG)-dependent serine/threonine-protein kinase that mediates non-redundant functions in T-cell receptor (TCR) signaling, includingT-cells activation, proliferation, differentiation and survival,by mediating activation of multiple transcription factors such asNF-kappa-B, JUN, NFATC1 and NFATC2. In TCR-CD3/CD28-co-stimulatedT-cells, is required for the activation of NF-kappa-B and JUN,which in turn are essential for IL2 production, and participatesin the calcium-dependent NFATC1 and NFATC2 transactivation.Mediates the activation of the canonical NF-kappa-B pathway(NFKB1) by direct phosphorylation of CARD11 on several serineresidues, inducing CARD11 association with lipid rafts andrecruitment of the BCL10-MALT1 complex, which then activates IKKcomplex, resulting in nuclear translocation and activation ofNFKB1. May also play an indirect role in activation of the non-canonical NF-kappa-B (NFKB2) pathway. In the signaling pathwayleading to JUN activation, acts by phosphorylating the mediatorSTK39/SPAK and may not act through MAP kinases signaling. Plays acritical role in TCR/CD28-induced NFATC1 and NFATC2transactivation by participating in the regulation of reducedinositol 1,4,5-trisphosphate generation and intracellular calciummobilization. After costimulation of T-cells through CD28 canphosphorylate CBLB and is required for the ubiquitination andsubsequent degradation of CBLB, which is a prerequisite for theactivation of TCR. During T-cells differentiation, plays animportant role in the development of T-helper 2 (Th2) cellsfollowing immune and inflammatory responses, and, in thedevelopment of inflammatory autoimmune diseases, is necessary forthe activation of IL17-producing Th17 cells. May play a minor rolein Th1 response. Upon TCR stimulation, mediates T-cell protectivesurvival signal by phosphorylating BAD, thus protecting T-cellsfrom BAD-induced apoptosis, and by up-regulating BCL-X(L)/BCL2L1levels through NF-kappa-B and JUN pathways. In platelets,regulates signal transduction downstream of the ITGA2B, CD36/GP4,F2R/PAR1 and F2RL3/PAR4 receptors, playing a positive role in'outside-in' signaling and granule secretion signal transduction.May relay signals from the activated ITGA2B receptor by regulatingthe uncoupling of WASP and WIPF1, thereby permitting theregulation of actin filament nucleation and branching activity ofthe Arp2/3 complex. May mediate inhibitory effects of free fattyacids on insulin signaling by phosphorylating IRS1, which in turnblocks IRS1 tyrosine phosphorylation and downstream activation ofthe PI3K/AKT pathway. Phosphorylates MSN (moesin) in the presenceof phosphatidylglycerol or phosphatidylinositol. PhosphorylatesPDPK1 at 'Ser-504' and 'Ser-532' and negatively regulates itsability to phosphorylate PKB/AKT1. {ECO:0000269|PubMed:11342610,ECO:0000269|PubMed:14988727, ECO:0000269|PubMed:15364919,ECO:0000269|PubMed:16252004, ECO:0000269|PubMed:16356855,ECO:0000269|PubMed:16709830, ECO:0000269|PubMed:19549985,ECO:0000269|PubMed:8657160}.

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 FAM107B_PRKCQ


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 FAM107B_PRKCQ


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
FAM107BELAVL1, BAG3, U2AF2, TRIM25PRKCQVAV1, FYN, LCK, TAL1, IKBKB, YWHAG, AKT1, GLRX3, PDPK1, CHUK, IKBKG, JUND, NFE2L2, PRKCQ, MAP3K7, FYB, CARD11, BCL10, YWHAQ, KCNA5, CBL, SELL, RASGRP3, MALT1, HSP90AA1, PRKCD, DEF6, ALK, C2CD2L, ZNF24


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 FAM107B_PRKCQ


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 FAM107B_PRKCQ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePRKCQC0003873Rheumatoid Arthritis3CTD_human
TgenePRKCQC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgenePRKCQC0079773Lymphoma, T-Cell, Cutaneous1CTD_human