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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FAM107B-PRKCQ (FusionGDB2 ID:28243)

Fusion Gene Summary for FAM107B-PRKCQ

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM107B-PRKCQ
Fusion gene ID: 28243
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 date2020031320200313
UniProtAcc

Q9H098

.
Ensembl transtripts involved in fusion geneENST00000181796, ENST00000378470, 
ENST00000468747, ENST00000378467, 
ENST00000378465, ENST00000378458, 
ENST00000478076, ENST00000378462, 
ENST00000496330, ENST00000479731, 
ENST00000471815, 		ENST00000263125, 
ENST00000397176, ENST00000539722, 
Fusion gene scores* DoF score10 X 8 X 3=2403 X 3 X 3=27
# samples 103
** MAII scorelog2(10/240*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: FAM107B [Title/Abstract] AND PRKCQ [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM107B(14646239)-PRKCQ(6540520), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across FAM107B (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PRKCQ (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4DLBCTCGA-FA-A86F-01AFAM107Bchr10

14646239

-PRKCQchr10

6540520

-


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Fusion Gene ORF analysis for FAM107B-PRKCQ

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

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for FAM107B-PRKCQ


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for FAM107B-PRKCQ


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q9H098

.
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for FAM107B-PRKCQ


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis 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


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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Related Drugs for FAM107B-PRKCQ


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases 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
TgenePRKCQC0035305Retinal Detachment1CTD_human
TgenePRKCQC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
TgenePRKCQC0205734Diabetes, Autoimmune1CTD_human
TgenePRKCQC0339546Retinal Pigment Epithelial Detachment1CTD_human
TgenePRKCQC0342302Brittle diabetes1CTD_human
TgenePRKCQC0376407Granulomatous Slack Skin1CTD_human
TgenePRKCQC3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
TgenePRKCQC4554117Diabetes Mellitus, Sudden-Onset1CTD_human