	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 3108

FusionGeneSummary for ATCAY_ATCAY

Fusion gene summary

Fusion gene information	Fusion gene name: ATCAY_ATCAY
	Fusion gene ID: 3108
		Hgene	Tgene
	Gene symbol	ATCAY	ATCAY
	Gene ID	85300	85300
	Gene name	ATCAY, caytaxin	ATCAY, caytaxin
	Synonyms	BNIP-H\|CLAC	BNIP-H\|CLAC
	Cytomap	19p13.3	19p13.3
	Type of gene	protein-coding	protein-coding
	Description	caytaxinBNIP-2-homolgyBNIP-2-homologyCayman ataxiaataxia cayman type proteinataxia cerebellar Cayman type	caytaxinBNIP-2-homolgyBNIP-2-homologyCayman ataxiaataxia cayman type proteinataxia cerebellar Cayman type
	Modification date	20180523	20180523
	UniProtAcc	Q86WG3	Q86WG3
	Ensembl transtripts involved in fusion gene	ENST00000450849, ENST00000301260, ENST00000595916, ENST00000398448, ENST00000600960,	ENST00000450849, ENST00000301260, ENST00000595916, ENST00000398448, ENST00000600960,
Fusion gene scores	* DoF score	1 X 3 X 1=3	3 X 5 X 3=45
	# samples	4	6
	** MAII score	log2(4/3*10)=3.73696559416621	log2(6/45*10)=0.415037499278844 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: ATCAY [Title/Abstract] AND ATCAY [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
Hgene	ATCAY	GO:0032880	regulation of protein localization	16899818
Hgene	ATCAY	GO:2000212	negative regulation of glutamate metabolic process	16899818
Tgene	ATCAY	GO:0032880	regulation of protein localization	16899818
Tgene	ATCAY	GO:2000212	negative regulation of glutamate metabolic process	16899818

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
ChiTaRS3.1			BF528840	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
ChiTaRS3.1			AX747461	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
ChiTaRS3.1			AK092298	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
ChiTaRS3.1			BF527108	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+

* 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
3UTR-3UTR	ENST00000450849	ENST00000450849	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
3UTR-intron	ENST00000450849	ENST00000301260	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
3UTR-intron	ENST00000450849	ENST00000595916	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
3UTR-intron	ENST00000450849	ENST00000398448	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
3UTR-intron	ENST00000450849	ENST00000600960	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-3UTR	ENST00000301260	ENST00000450849	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000301260	ENST00000301260	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000301260	ENST00000595916	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000301260	ENST00000398448	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000301260	ENST00000600960	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-3UTR	ENST00000595916	ENST00000450849	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000595916	ENST00000301260	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000595916	ENST00000595916	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000595916	ENST00000398448	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000595916	ENST00000600960	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-3UTR	ENST00000398448	ENST00000450849	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000398448	ENST00000301260	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000398448	ENST00000595916	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000398448	ENST00000398448	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000398448	ENST00000600960	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-3UTR	ENST00000600960	ENST00000450849	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000600960	ENST00000301260	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000600960	ENST00000595916	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000600960	ENST00000398448	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
intron-intron	ENST00000600960	ENST00000600960	ATCAY	chr19	3927268	-	ATCAY	chr19	3927402	+
3UTR-3UTR	ENST00000450849	ENST00000450849	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
3UTR-intron	ENST00000450849	ENST00000301260	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
3UTR-intron	ENST00000450849	ENST00000595916	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
3UTR-3UTR	ENST00000450849	ENST00000398448	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
3UTR-3UTR	ENST00000450849	ENST00000600960	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-3UTR	ENST00000301260	ENST00000450849	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-intron	ENST00000301260	ENST00000301260	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-intron	ENST00000301260	ENST00000595916	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-3UTR	ENST00000301260	ENST00000398448	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-3UTR	ENST00000301260	ENST00000600960	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-3UTR	ENST00000595916	ENST00000450849	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-intron	ENST00000595916	ENST00000301260	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-intron	ENST00000595916	ENST00000595916	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-3UTR	ENST00000595916	ENST00000398448	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-3UTR	ENST00000595916	ENST00000600960	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-3UTR	ENST00000398448	ENST00000450849	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-intron	ENST00000398448	ENST00000301260	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-intron	ENST00000398448	ENST00000595916	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-3UTR	ENST00000398448	ENST00000398448	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-3UTR	ENST00000398448	ENST00000600960	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-3UTR	ENST00000600960	ENST00000450849	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-intron	ENST00000600960	ENST00000301260	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-intron	ENST00000600960	ENST00000595916	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-3UTR	ENST00000600960	ENST00000398448	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
intron-3UTR	ENST00000600960	ENST00000600960	ATCAY	chr19	3927687	+	ATCAY	chr19	3924666	+
3UTR-3UTR	ENST00000450849	ENST00000450849	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-intron	ENST00000450849	ENST00000301260	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-intron	ENST00000450849	ENST00000595916	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-3UTR	ENST00000450849	ENST00000398448	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-3UTR	ENST00000450849	ENST00000600960	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
intron-3UTR	ENST00000301260	ENST00000450849	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
intron-intron	ENST00000301260	ENST00000301260	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
intron-intron	ENST00000301260	ENST00000595916	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
intron-3UTR	ENST00000301260	ENST00000398448	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
intron-3UTR	ENST00000301260	ENST00000600960	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
intron-3UTR	ENST00000595916	ENST00000450849	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
intron-intron	ENST00000595916	ENST00000301260	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
intron-intron	ENST00000595916	ENST00000595916	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
intron-3UTR	ENST00000595916	ENST00000398448	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
intron-3UTR	ENST00000595916	ENST00000600960	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-3UTR	ENST00000398448	ENST00000450849	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-intron	ENST00000398448	ENST00000301260	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-intron	ENST00000398448	ENST00000595916	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-3UTR	ENST00000398448	ENST00000398448	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-3UTR	ENST00000398448	ENST00000600960	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-3UTR	ENST00000600960	ENST00000450849	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-intron	ENST00000600960	ENST00000301260	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-intron	ENST00000600960	ENST00000595916	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-3UTR	ENST00000600960	ENST00000398448	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+
3UTR-3UTR	ENST00000600960	ENST00000600960	ATCAY	chr19	3924837	-	ATCAY	chr19	3924865	+

Top

FusionProtFeatures for ATCAY_ATCAY

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

Hgene	Tgene
ATCAY Q86WG3	ATCAY Q86WG3
Functions in the development of neural tissues,particularly the postnatal maturation of the cerebellar cortex.May play a role in neurotransmission through regulation ofglutaminase/GLS, an enzyme responsible for the production inneurons of the glutamate neurotransmitter. Alternatively, mayregulate the localization of mitochondria within axons anddendrites. {ECO:0000269\|PubMed:16899818}.	Functions in the development of neural tissues,particularly the postnatal maturation of the cerebellar cortex.May play a role in neurotransmission through regulation ofglutaminase/GLS, an enzyme responsible for the production inneurons of the glutamate neurotransmitter. Alternatively, mayregulate the localization of mitochondria within axons anddendrites. {ECO:0000269\|PubMed:16899818}.

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

Top

FusionGeneSequence for ATCAY_ATCAY

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).

Top

FusionGenePPI for ATCAY_ATCAY

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

- 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

Top

RelatedDrugs for ATCAY_ATCAY

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

Top

RelatedDiseases for ATCAY_ATCAY

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	ATCAY	C1832585	CEREBELLAR ATAXIA, CAYMAN TYPE	1	CTD_human;ORPHANET;UNIPROT
Tgene	ATCAY	C1832585	CEREBELLAR ATAXIA, CAYMAN TYPE	1	CTD_human;ORPHANET;UNIPROT

Home

Download

Statistics

Examples

Help

Contact

Fusion gene ID: 3108

FusionGeneSummary for ATCAY_ATCAY

FusionProtFeatures for ATCAY_ATCAY

FusionGeneSequence for ATCAY_ATCAY

FusionGenePPI for ATCAY_ATCAY

RelatedDrugs for ATCAY_ATCAY

RelatedDiseases for ATCAY_ATCAY