	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 4756

FusionGeneSummary for C16orf95_GABRA3

Fusion gene summary

Fusion gene information	Fusion gene name: C16orf95_GABRA3
	Fusion gene ID: 4756
		Hgene	Tgene
	Gene symbol	C16orf95	GABRA3
	Gene ID	100506581	2556
	Gene name	chromosome 16 open reading frame 95	gamma-aminobutyric acid type A receptor alpha3 subunit
	Synonyms	-	-
	Cytomap	16q24.2	Xq28
	Type of gene	protein-coding	protein-coding
	Description	uncharacterized protein C16orf95	gamma-aminobutyric acid receptor subunit alpha-3GABA(A) receptor subunit alpha-3GABA(A) receptor, alpha 3gamma-aminobutyric acid (GABA) A receptor, alpha 3gamma-animobutyric acid (GABA) A receptor, alpha 3
	Modification date	20180519	20180523
	UniProtAcc	Q9H693	P34903
	Ensembl transtripts involved in fusion gene	ENST00000562840, ENST00000253461, ENST00000567970,	ENST00000370314, ENST00000535043, ENST00000497894,
Fusion gene scores	* DoF score	1 X 1 X 1=1	6 X 5 X 5=150
	# samples	1	6
	** MAII score	log2(1/1*10)=3.32192809488736	log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: C16orf95 [Title/Abstract] AND GABRA3 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	LD	BRCA	TCGA-AR-A2LR-01A	C16orf95	chr16	87336259	-	GABRA3	chrX	151514174	-

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5UTR-3CDS	ENST00000562840	ENST00000370314	C16orf95	chr16	87336259	-	GABRA3	chrX	151514174	-
5UTR-3CDS	ENST00000562840	ENST00000535043	C16orf95	chr16	87336259	-	GABRA3	chrX	151514174	-
5UTR-intron	ENST00000562840	ENST00000497894	C16orf95	chr16	87336259	-	GABRA3	chrX	151514174	-
intron-3CDS	ENST00000253461	ENST00000370314	C16orf95	chr16	87336259	-	GABRA3	chrX	151514174	-
intron-3CDS	ENST00000253461	ENST00000535043	C16orf95	chr16	87336259	-	GABRA3	chrX	151514174	-
intron-intron	ENST00000253461	ENST00000497894	C16orf95	chr16	87336259	-	GABRA3	chrX	151514174	-
intron-3CDS	ENST00000567970	ENST00000370314	C16orf95	chr16	87336259	-	GABRA3	chrX	151514174	-
intron-3CDS	ENST00000567970	ENST00000535043	C16orf95	chr16	87336259	-	GABRA3	chrX	151514174	-
intron-intron	ENST00000567970	ENST00000497894	C16orf95	chr16	87336259	-	GABRA3	chrX	151514174	-

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FusionProtFeatures for C16orf95_GABRA3

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
C16orf95 Q9H693	GABRA3 P34903
	GABA, the major inhibitory neurotransmitter in thevertebrate brain, mediates neuronal inhibition by binding to theGABA/benzodiazepine receptor and opening an integral chloridechannel.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for C16orf95_GABRA3

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 C16orf95_GABRA3

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
C16orf95		GABRA3	UBQLN1, UGT2B7, SDCBP2, EGFR, GABRA5, ABCA7, SEC11C, TMEM131, GLRB, TUSC3, AMIGO1, TMEM59L, TTC17, EDA, POMT1, SPCS1, WLS, ALG9, SLC47A1, HLA-C, GPAA1

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for C16orf95_GABRA3

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner	Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Tgene	GABRA3	P34903	DB00425	Zolpidem	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved
Tgene	GABRA3	P34903	DB00546	Adinazolam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved
Tgene	GABRA3	P34903	DB00842	Oxazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved
Tgene	GABRA3	P34903	DB00849	Methylphenobarbital	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved
Tgene	GABRA3	P34903	DB00898	Ethanol	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved
Tgene	GABRA3	P34903	DB01198	Zopiclone	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved
Tgene	GABRA3	P34903	DB01354	Heptabarbital	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved
Tgene	GABRA3	P34903	DB01355	Hexobarbital	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved
Tgene	GABRA3	P34903	DB01594	Cinolazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved
Tgene	GABRA3	P34903	DB01595	Nitrazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved
Tgene	GABRA3	P34903	DB09166	Etizolam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved
Tgene	GABRA3	P34903	DB13872	Lormetazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved
Tgene	GABRA3	P34903	DB00306	Talbutal	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit
Tgene	GABRA3	P34903	DB00371	Meprobamate	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit
Tgene	GABRA3	P34903	DB00683	Midazolam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit
Tgene	GABRA3	P34903	DB01215	Estazolam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit
Tgene	GABRA3	P34903	DB01351	Amobarbital	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit
Tgene	GABRA3	P34903	DB01352	Aprobarbital	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit
Tgene	GABRA3	P34903	DB01353	Butethal	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit
Tgene	GABRA3	P34903	DB01544	Flunitrazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit
Tgene	GABRA3	P34903	DB01559	Clotiazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit
Tgene	GABRA3	P34903	DB01567	Fludiazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit
Tgene	GABRA3	P34903	DB01588	Prazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit
Tgene	GABRA3	P34903	DB01589	Quazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit
Tgene	GABRA3	P34903	DB00690	Flurazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit\|investigational
Tgene	GABRA3	P34903	DB01558	Bromazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit\|investigational
Tgene	GABRA3	P34903	DB00829	Diazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit\|investigational\|vet_approved
Tgene	GABRA3	P34903	DB00801	Halazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|illicit\|withdrawn
Tgene	GABRA3	P34903	DB00231	Temazepam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|investigational
Tgene	GABRA3	P34903	DB00402	Eszopiclone	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|investigational
Tgene	GABRA3	P34903	DB00897	Triazolam	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|investigational
Tgene	GABRA3	P34903	DB00312	Pentobarbital	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|investigational\|vet_approved
Tgene	GABRA3	P34903	DB00418	Secobarbital	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|vet_approved
Tgene	GABRA3	P34903	DB00599	Thiopental	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|vet_approved
Tgene	GABRA3	P34903	DB00794	Primidone	Gamma-aminobutyric acid receptor subunit alpha-3	small molecule	approved\|vet_approved

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RelatedDiseases for C16orf95_GABRA3

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	GABRA3	C0005586	Bipolar Disorder	5	PSYGENET
Tgene	GABRA3	C0004352	Autistic Disorder	1	CTD_human
Tgene	GABRA3	C0011570	Mental Depression	1	PSYGENET
Tgene	GABRA3	C0011581	Depressive disorder	1	PSYGENET

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Fusion gene ID: 4756

FusionGeneSummary for C16orf95_GABRA3

FusionProtFeatures for C16orf95_GABRA3

FusionGeneSequence for C16orf95_GABRA3

FusionGenePPI for C16orf95_GABRA3

RelatedDrugs for C16orf95_GABRA3

RelatedDiseases for C16orf95_GABRA3