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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:ANKHD1-CYSTM1 (FusionGDB2 ID:4439)

Fusion Gene Summary for ANKHD1-CYSTM1

Fusion gene summary

Fusion gene information	Fusion gene name: ANKHD1-CYSTM1
	Fusion gene ID: 4439
		Hgene	Tgene
	Gene symbol	ANKHD1	CYSTM1
	Gene ID	54882	84418
	Gene name	ankyrin repeat and KH domain containing 1	cysteine rich transmembrane module containing 1
	Synonyms	MASK\|MASK1\|PP2500\|VBARP	C5orf32\|ORF1-FL49
	Cytomap	5q31.3	5q31.3
	Type of gene	protein-coding	protein-coding
	Description	ankyrin repeat and KH domain-containing protein 1HIV-1 Vpr-binding ankyrin repeat proteinmultiple ankyrin repeats, single KH-domain homolog	cysteine-rich and transmembrane domain-containing protein 1UPF0467 protein C5orf32putative nuclear protein ORF1-FL49
	Modification date	20200313	20200313
	UniProtAcc	Q8IWZ3	Q9H1C7
	Ensembl transtripts involved in fusion gene	ENST00000462121, ENST00000297183, ENST00000360839, ENST00000394722, ENST00000394723, ENST00000544120,	ENST00000261811, ENST00000509789,
Fusion gene scores	* DoF score	29 X 9 X 8=2088	26 X 7 X 13=2366
	# samples	14	34
	** MAII score	log2(14/2088*10)=-3.89862297962492 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(34/2366*10)=-2.79884342220209 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ANKHD1 [Title/Abstract] AND CYSTM1 [Title/Abstract] AND fusion [Title/Abstract] Integrative analysis of the melanoma transcriptome (pmid: 20179022)
Most frequent breakpoint	ANKHD1(139781858)-CYSTM1(139661082), # samples:3
Anticipated loss of major functional domain due to fusion event.	ANKHD1-CYSTM1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.

* 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 breakpoints across ANKHD1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across CYSTM1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	BRCA	TCGA-BH-A0H9-01A	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
ChimerDB4	BRCA	TCGA-BH-A0H9-01A	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+
ChimerDB4	BRCA	TCGA-D8-A13Y-01A	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
ChimerDB4	LIHC	TCGA-RC-A6M3-01A	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
ChimerDB4	PCPG	TCGA-WB-A820-01A	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
ChimerDB4	SARC	TCGA-N1-A6IA-01A	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
ChimerDB4	STAD	TCGA-BR-8296-01A	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
ChimerDB4	STAD	TCGA-IN-A6RI-01A	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
ChimerDB4	STAD	TCGA-IN-A6RI-01A	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
ChimerDB4	THCA	TCGA-EM-A3FQ-01A	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
ChimerDB4	THCA	TCGA-EM-A3FQ-06A	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
ChimerDB4	UCEC	TCGA-AJ-A3EM-01A	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
ChimerDB4	UCEC	TCGA-AJ-A3EM-01A	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
ChimerDB4	UCS	TCGA-NA-A4RO	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+

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Fusion Gene ORF analysis for ANKHD1-CYSTM1

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-3CDS	ENST00000462121	ENST00000261811	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
3UTR-3UTR	ENST00000462121	ENST00000509789	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
3UTR-5UTR	ENST00000462121	ENST00000261811	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+
3UTR-intron	ENST00000462121	ENST00000509789	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+
5CDS-3UTR	ENST00000297183	ENST00000509789	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
5CDS-3UTR	ENST00000297183	ENST00000509789	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
5CDS-3UTR	ENST00000297183	ENST00000509789	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
5CDS-3UTR	ENST00000297183	ENST00000509789	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
5CDS-3UTR	ENST00000297183	ENST00000509789	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
5CDS-3UTR	ENST00000297183	ENST00000509789	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
5CDS-3UTR	ENST00000297183	ENST00000509789	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+
5CDS-3UTR	ENST00000360839	ENST00000509789	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
5CDS-3UTR	ENST00000360839	ENST00000509789	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
5CDS-3UTR	ENST00000360839	ENST00000509789	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
5CDS-3UTR	ENST00000360839	ENST00000509789	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
5CDS-3UTR	ENST00000360839	ENST00000509789	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
5CDS-3UTR	ENST00000360839	ENST00000509789	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
5CDS-3UTR	ENST00000360839	ENST00000509789	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+
5CDS-3UTR	ENST00000394722	ENST00000509789	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
5CDS-3UTR	ENST00000394722	ENST00000509789	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
5CDS-3UTR	ENST00000394722	ENST00000509789	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
5CDS-3UTR	ENST00000394723	ENST00000509789	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
5CDS-3UTR	ENST00000394723	ENST00000509789	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
5CDS-3UTR	ENST00000394723	ENST00000509789	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
5CDS-5UTR	ENST00000297183	ENST00000261811	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
5CDS-5UTR	ENST00000297183	ENST00000261811	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+
5CDS-5UTR	ENST00000360839	ENST00000261811	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
5CDS-5UTR	ENST00000360839	ENST00000261811	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+
5CDS-intron	ENST00000297183	ENST00000261811	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
5CDS-intron	ENST00000297183	ENST00000261811	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
5CDS-intron	ENST00000297183	ENST00000509789	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
5CDS-intron	ENST00000297183	ENST00000509789	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+
5CDS-intron	ENST00000360839	ENST00000261811	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
5CDS-intron	ENST00000360839	ENST00000261811	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
5CDS-intron	ENST00000360839	ENST00000509789	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
5CDS-intron	ENST00000360839	ENST00000509789	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+
5CDS-intron	ENST00000394722	ENST00000261811	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
5CDS-intron	ENST00000394722	ENST00000261811	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
5CDS-intron	ENST00000394723	ENST00000261811	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
5CDS-intron	ENST00000394723	ENST00000261811	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
Frame-shift	ENST00000297183	ENST00000261811	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
Frame-shift	ENST00000297183	ENST00000261811	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
Frame-shift	ENST00000297183	ENST00000261811	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
Frame-shift	ENST00000297183	ENST00000261811	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
Frame-shift	ENST00000297183	ENST00000261811	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+
Frame-shift	ENST00000360839	ENST00000261811	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
Frame-shift	ENST00000360839	ENST00000261811	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
Frame-shift	ENST00000360839	ENST00000261811	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
Frame-shift	ENST00000360839	ENST00000261811	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
Frame-shift	ENST00000360839	ENST00000261811	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+
Frame-shift	ENST00000394722	ENST00000261811	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
Frame-shift	ENST00000394723	ENST00000261811	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000394722	ENST00000261811	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000394722	ENST00000261811	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000394722	ENST00000261811	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000394722	ENST00000261811	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000394723	ENST00000261811	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000394723	ENST00000261811	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000394723	ENST00000261811	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000394723	ENST00000261811	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000462121	ENST00000261811	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000462121	ENST00000261811	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000462121	ENST00000261811	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000462121	ENST00000261811	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000544120	ENST00000261811	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000544120	ENST00000261811	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000544120	ENST00000261811	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000544120	ENST00000261811	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
intron-3CDS	ENST00000544120	ENST00000261811	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000394722	ENST00000509789	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000394722	ENST00000509789	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000394722	ENST00000509789	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000394722	ENST00000509789	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000394723	ENST00000509789	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000394723	ENST00000509789	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000394723	ENST00000509789	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000394723	ENST00000509789	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000462121	ENST00000509789	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000462121	ENST00000509789	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000462121	ENST00000509789	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
intron-3UTR	ENST00000462121	ENST00000509789	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
intron-3UTR	ENST00000462121	ENST00000509789	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000462121	ENST00000509789	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000544120	ENST00000509789	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000544120	ENST00000509789	ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000544120	ENST00000509789	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
intron-3UTR	ENST00000544120	ENST00000509789	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
intron-3UTR	ENST00000544120	ENST00000509789	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000544120	ENST00000509789	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622890	+
intron-3UTR	ENST00000544120	ENST00000509789	ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622890	+
intron-5UTR	ENST00000394722	ENST00000261811	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
intron-5UTR	ENST00000394722	ENST00000261811	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+
intron-5UTR	ENST00000394723	ENST00000261811	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
intron-5UTR	ENST00000394723	ENST00000261811	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+
intron-5UTR	ENST00000462121	ENST00000261811	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
intron-5UTR	ENST00000544120	ENST00000261811	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
intron-5UTR	ENST00000544120	ENST00000261811	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+
intron-intron	ENST00000394722	ENST00000509789	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
intron-intron	ENST00000394722	ENST00000509789	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+
intron-intron	ENST00000394723	ENST00000509789	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
intron-intron	ENST00000394723	ENST00000509789	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+
intron-intron	ENST00000462121	ENST00000261811	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
intron-intron	ENST00000462121	ENST00000261811	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
intron-intron	ENST00000462121	ENST00000509789	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
intron-intron	ENST00000544120	ENST00000261811	ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661082	+
intron-intron	ENST00000544120	ENST00000261811	ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661082	+
intron-intron	ENST00000544120	ENST00000509789	ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574031	+
intron-intron	ENST00000544120	ENST00000509789	ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574031	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for ANKHD1-CYSTM1

FusionAI 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622889	+	0.000228075	0.9997719
ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622889	+	0.000228075	0.9997719
ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574030	+	9.17E-06	0.9999908
ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622889	+	3.68E-06	0.9999963
ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622889	+	2.69E-06	0.99999726
ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661081	+	1.39E-07	0.9999999
ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622889	+	7.41E-08	0.9999999
ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622889	+	7.41E-08	0.9999999
ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574030	+	1.51E-08	1
ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622889	+	6.33E-12	1
ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661081	+	6.26E-11	1
ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661081	+	6.26E-11	1
ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622889	+	0.000228075	0.9997719
ANKHD1	chr5	139876863	+	CYSTM1	chr5	139622889	+	0.000228075	0.9997719
ANKHD1	chr5	139876863	+	CYSTM1	chr5	139574030	+	9.17E-06	0.9999908
ANKHD1	chr5	139893064	+	CYSTM1	chr5	139622889	+	3.68E-06	0.9999963
ANKHD1	chr5	139903825	+	CYSTM1	chr5	139622889	+	2.69E-06	0.99999726
ANKHD1	chr5	139828890	+	CYSTM1	chr5	139661081	+	1.39E-07	0.9999999
ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622889	+	7.41E-08	0.9999999
ANKHD1	chr5	139866645	+	CYSTM1	chr5	139622889	+	7.41E-08	0.9999999
ANKHD1	chr5	139866645	+	CYSTM1	chr5	139574030	+	1.51E-08	1
ANKHD1	chr5	139781858	+	CYSTM1	chr5	139622889	+	6.33E-12	1
ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661081	+	6.26E-11	1
ANKHD1	chr5	139781858	+	CYSTM1	chr5	139661081	+	6.26E-11	1

Distribution 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.

Distribution 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 ANKHD1-CYSTM1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:139781858/:139661082)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

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

Hgene	Tgene
ANKHD1 Q8IWZ3	CYSTM1 Q9H1C7
FUNCTION: May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases. {ECO:0000269\|PubMed:16098192}.

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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Fusion Gene Sequence for ANKHD1-CYSTM1

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 ANKHD1-CYSTM1

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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Related Drugs for ANKHD1-CYSTM1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for ANKHD1-CYSTM1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source