	FusionGeneSummary
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Fusion gene ID: 10149

FusionGeneSummary for DMD_TMEM165

Fusion gene summary

Fusion gene information	Fusion gene name: DMD_TMEM165
	Fusion gene ID: 10149
		Hgene	Tgene
	Gene symbol	DMD	TMEM165
	Gene ID	1756	55858
	Gene name	dystrophin	transmembrane protein 165
	Synonyms	BMD\|CMD3B\|DXS142\|DXS164\|DXS206\|DXS230\|DXS239\|DXS268\|DXS269\|DXS270\|DXS272\|MRX85	CDG2K\|FT27\|GDT1\|TMPT27\|TPARL
	Cytomap	Xp21.2-p21.1	4q12
	Type of gene	protein-coding	protein-coding
	Description	dystrophin	transmembrane protein 165TPA regulated locustransmembrane protein PT27transmembrane protein TPARL
	Modification date	20180522	20180519
	UniProtAcc	P11532	Q9HC07
	Ensembl transtripts involved in fusion gene	ENST00000378707, ENST00000359836, ENST00000541735, ENST00000343523, ENST00000378677, ENST00000357033, ENST00000474231, ENST00000378723, ENST00000378702, ENST00000361471, ENST00000378680, ENST00000288447, ENST00000445312,	ENST00000506198, ENST00000381334, ENST00000542052, ENST00000514904,
Fusion gene scores	* DoF score	6 X 8 X 3=144	2 X 2 X 1=4
	# samples	8	2
	** MAII score	log2(8/144*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(2/4*10)=2.32192809488736
Context	PubMed: DMD [Title/Abstract] AND TMEM165 [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	DMD	GO:0043043	peptide biosynthetic process	16000376
Tgene	TMEM165	GO:0032472	Golgi calcium ion transport	23569283

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			BX282127	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+

* 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
intron-intron	ENST00000378707	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378707	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378707	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378707	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000359836	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000359836	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000359836	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000359836	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000541735	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000541735	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000541735	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000541735	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000343523	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000343523	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000343523	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000343523	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378677	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378677	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378677	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378677	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000357033	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000357033	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000357033	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000357033	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000474231	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000474231	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000474231	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000474231	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378723	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378723	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378723	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378723	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378702	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378702	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378702	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378702	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000361471	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000361471	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000361471	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000361471	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378680	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378680	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378680	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000378680	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000288447	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000288447	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000288447	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000288447	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000445312	ENST00000506198	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000445312	ENST00000381334	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000445312	ENST00000542052	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+
intron-intron	ENST00000445312	ENST00000514904	DMD	chrX	31893460	+	TMEM165	chr4	56284474	+

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FusionProtFeatures for DMD_TMEM165

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

Hgene	Tgene
DMD P11532	TMEM165 Q9HC07
	May function as a calcium/proton transporter involved incalcium and in lysosomal pH homeostasis. Therefore, it may play anindirect role in protein glycosylation.{ECO:0000269\|PubMed:22683087, ECO:0000269\|PubMed:23569283}.

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 DMD_TMEM165

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 DMD_TMEM165

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

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RelatedDrugs for DMD_TMEM165

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

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RelatedDiseases for DMD_TMEM165

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	DMD	C0013264	Muscular Dystrophy, Duchenne	16	CTD_human;ORPHANET;UNIPROT
Hgene	DMD	C0026850	Muscular Dystrophy	4	CTD_human;HPO
Hgene	DMD	C3668940	Dmd-Associated Dilated Cardiomyopathy	4	CTD_human;UNIPROT
Hgene	DMD	C0878544	Cardiomyopathies	3	CTD_human;HPO
Hgene	DMD	C0006663	Calcinosis	1	CTD_human
Hgene	DMD	C0007193	Cardiomyopathy, Dilated	1	CTD_human;HPO
Hgene	DMD	C0018800	Cardiomegaly	1	CTD_human
Hgene	DMD	C0023269	leiomyosarcoma	1	CTD_human
Hgene	DMD	C0026851	Muscular Dystrophy, Animal	1	CTD_human
Hgene	DMD	C0027540	Necrosis	1	CTD_human
Hgene	DMD	C0027626	Neoplasm Invasiveness	1	CTD_human
Hgene	DMD	C0027627	Neoplasm Metastasis	1	CTD_human
Hgene	DMD	C0032460	Polycystic Ovary Syndrome	1	CTD_human
Hgene	DMD	C0038220	Status Epilepticus	1	CTD_human
Hgene	DMD	C0151786	Muscle Weakness	1	CTD_human;HPO
Hgene	DMD	C0206656	Rhabdomyosarcoma, Embryonal	1	CTD_human
Hgene	DMD	C0238198	Gastrointestinal Stromal Tumors	1	CTD_human
Hgene	DMD	C0242973	Ventricular Dysfunction	1	CTD_human
Hgene	DMD	C0917713	Becker Muscular Dystrophy	1	ORPHANET;UNIPROT
Tgene	TMEM165	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Tgene	TMEM165	C3553571	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk	1	ORPHANET;UNIPROT

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Fusion gene ID: 10149

FusionGeneSummary for DMD_TMEM165

FusionProtFeatures for DMD_TMEM165

FusionGeneSequence for DMD_TMEM165

FusionGenePPI for DMD_TMEM165

RelatedDrugs for DMD_TMEM165

RelatedDiseases for DMD_TMEM165