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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: 13876

FusionGeneSummary for FREM1_UNC13B

check button Fusion gene summary
Fusion gene informationFusion gene name: FREM1_UNC13B
Fusion gene ID: 13876
HgeneTgene
Gene symbol

FREM1

UNC13B

Gene ID

158326

10497

Gene nameFRAS1 related extracellular matrix 1unc-13 homolog B
SynonymsBNAR|C9orf143|C9orf145|C9orf154|MOTA|TILRR|TRIGNO2MUNC13|UNC13|Unc13h2
Cytomap

9p22.3

9p13.3

Type of geneprotein-codingprotein-coding
DescriptionFRAS1-related extracellular matrix protein 1extracellular matrix protein QBRICKprotein unc-13 homolog Bhomolog of rat Munc13 (diacylglycerol-binding)munc13-2unc-13-like
Modification date2018051920180523
UniProtAcc

Q5H8C1

O14795

Ensembl transtripts involved in fusion geneENST00000422223, ENST00000380881, 
ENST00000380880, ENST00000380894, 
ENST00000486223, 
ENST00000396787, 
ENST00000378495, ENST00000378496, 
ENST00000481299, 
Fusion gene scores* DoF score3 X 3 X 2=184 X 3 X 3=36
# samples 34
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FREM1 [Title/Abstract] AND UNC13B [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
TgeneUNC13B

GO:0043065

positive regulation of apoptotic process

10233166

TgeneUNC13B

GO:0050714

positive regulation of protein secretion

19641095

TgeneUNC13B

GO:0071333

cellular response to glucose stimulus

19641095


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
TCGARVBLCATCGA-XF-AAMX-01AFREM1chr9

14909912

-UNC13Bchr9

35228012

+
* 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-3CDSENST00000422223ENST00000396787FREM1chr9

14909912

-UNC13Bchr9

35228012

+
5UTR-3CDSENST00000422223ENST00000378495FREM1chr9

14909912

-UNC13Bchr9

35228012

+
5UTR-3CDSENST00000422223ENST00000378496FREM1chr9

14909912

-UNC13Bchr9

35228012

+
5UTR-intronENST00000422223ENST00000481299FREM1chr9

14909912

-UNC13Bchr9

35228012

+
5UTR-3CDSENST00000380881ENST00000396787FREM1chr9

14909912

-UNC13Bchr9

35228012

+
5UTR-3CDSENST00000380881ENST00000378495FREM1chr9

14909912

-UNC13Bchr9

35228012

+
5UTR-3CDSENST00000380881ENST00000378496FREM1chr9

14909912

-UNC13Bchr9

35228012

+
5UTR-intronENST00000380881ENST00000481299FREM1chr9

14909912

-UNC13Bchr9

35228012

+
5UTR-3CDSENST00000380880ENST00000396787FREM1chr9

14909912

-UNC13Bchr9

35228012

+
5UTR-3CDSENST00000380880ENST00000378495FREM1chr9

14909912

-UNC13Bchr9

35228012

+
5UTR-3CDSENST00000380880ENST00000378496FREM1chr9

14909912

-UNC13Bchr9

35228012

+
5UTR-intronENST00000380880ENST00000481299FREM1chr9

14909912

-UNC13Bchr9

35228012

+
intron-3CDSENST00000380894ENST00000396787FREM1chr9

14909912

-UNC13Bchr9

35228012

+
intron-3CDSENST00000380894ENST00000378495FREM1chr9

14909912

-UNC13Bchr9

35228012

+
intron-3CDSENST00000380894ENST00000378496FREM1chr9

14909912

-UNC13Bchr9

35228012

+
intron-intronENST00000380894ENST00000481299FREM1chr9

14909912

-UNC13Bchr9

35228012

+
intron-3CDSENST00000486223ENST00000396787FREM1chr9

14909912

-UNC13Bchr9

35228012

+
intron-3CDSENST00000486223ENST00000378495FREM1chr9

14909912

-UNC13Bchr9

35228012

+
intron-3CDSENST00000486223ENST00000378496FREM1chr9

14909912

-UNC13Bchr9

35228012

+
intron-intronENST00000486223ENST00000481299FREM1chr9

14909912

-UNC13Bchr9

35228012

+

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FusionProtFeatures for FREM1_UNC13B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FREM1

Q5H8C1

UNC13B

O14795

Extracellular matrix protein that plays a role inepidermal differentiation and is required for epidermal adhesionduring embryonic development. {ECO:0000250}. Plays a role in vesicle maturation during exocytosis asa target of the diacylglycerol second messenger pathway. Isinvolved in neurotransmitter release by acting in synaptic vesiclepriming prior to vesicle fusion and participates in the activity-depending refilling of readily releasable vesicle pool (RRP).Essential for synaptic vesicle maturation in a subset ofexcitatory/glutamatergic but not inhibitory/GABA-mediated synapses(By similarity). {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 FREM1_UNC13B


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 FREM1_UNC13B


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
FREM1STK3, KRASUNC13BSTX1A, SPTBN2, RPH3AL, STX1B, RIMS1, DOC2A, VAMP2, SNAP25, WDR48, BARD1, ECT2, RAB27A, CLK1, UBXN10, CCDC40, DIRAS2, PTPN4


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 FREM1_UNC13B


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 FREM1_UNC13B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFREM1C1855425Marles Greenberg Persaud syndrome2CTD_human;ORPHANET;UNIPROT
HgeneFREM1C2750433Bifid Nose With Or Without Anorectal And Renal Anomalies2CTD_human;ORPHANET;UNIPROT
HgeneFREM1C0015393Eye Abnormalities1CTD_human
HgeneFREM1C0221363Bifid nose1CTD_human
HgeneFREM1C0235833Congenital diaphragmatic hernia1CTD_human
HgeneFREM1C1609433Congenital absence of kidneys syndrome1CTD_human
HgeneFREM1C3280974TRIGONOCEPHALY 21UNIPROT