	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 1693

FusionGeneSummary for ANKAR_PMS1

Fusion gene summary

Fusion gene information	Fusion gene name: ANKAR_PMS1
	Fusion gene ID: 1693
		Hgene	Tgene
	Gene symbol	ANKAR	PMS1
	Gene ID	150709	5378
	Gene name	ankyrin and armadillo repeat containing	PMS1 homolog 1, mismatch repair system component
	Synonyms	-	HNPCC3\|MLH2\|PMSL1\|hPMS1
	Cytomap	2q32.2	2q32.2
	Type of gene	protein-coding	protein-coding
	Description	ankyrin and armadillo repeat-containing protein	PMS1 protein homolog 1DNA mismatch repair protein PMS1PMS1 postmeiotic segregation increased 1human homolog of yeast mutLmismatch repair gene PMSL1rhabdomyosarcoma antigen MU-RMS-40.10Brhabdomyosarcoma antigen MU-RMS-40.10E
	Modification date	20180522	20180523
	UniProtAcc	Q7Z5J8	P54277
	Ensembl transtripts involved in fusion gene	ENST00000520309, ENST00000313581, ENST00000281412, ENST00000438402, ENST00000431575, ENST00000461516,	ENST00000441310, ENST00000418224, ENST00000409823, ENST00000421722, ENST00000447232, ENST00000432292, ENST00000409985, ENST00000374826,
Fusion gene scores	* DoF score	3 X 2 X 3=18	6 X 4 X 5=120
	# samples	3	6
	** MAII score	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ANKAR [Title/Abstract] AND PMS1 [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	KIRP	TCGA-B3-4104-01A	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+

* 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-3CDS	ENST00000520309	ENST00000441310	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000520309	ENST00000418224	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000520309	ENST00000409823	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3UTR	ENST00000520309	ENST00000421722	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000520309	ENST00000447232	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000520309	ENST00000432292	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000520309	ENST00000409985	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000520309	ENST00000374826	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000313581	ENST00000441310	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000313581	ENST00000418224	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000313581	ENST00000409823	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3UTR	ENST00000313581	ENST00000421722	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000313581	ENST00000447232	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000313581	ENST00000432292	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000313581	ENST00000409985	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000313581	ENST00000374826	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000281412	ENST00000441310	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000281412	ENST00000418224	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000281412	ENST00000409823	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3UTR	ENST00000281412	ENST00000421722	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000281412	ENST00000447232	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000281412	ENST00000432292	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000281412	ENST00000409985	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000281412	ENST00000374826	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000438402	ENST00000441310	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000438402	ENST00000418224	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000438402	ENST00000409823	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3UTR	ENST00000438402	ENST00000421722	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000438402	ENST00000447232	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000438402	ENST00000432292	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000438402	ENST00000409985	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000438402	ENST00000374826	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000431575	ENST00000441310	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000431575	ENST00000418224	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3CDS	ENST00000431575	ENST00000409823	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-3UTR	ENST00000431575	ENST00000421722	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000431575	ENST00000447232	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000431575	ENST00000432292	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000431575	ENST00000409985	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
intron-intron	ENST00000431575	ENST00000374826	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
3UTR-3CDS	ENST00000461516	ENST00000441310	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
3UTR-3CDS	ENST00000461516	ENST00000418224	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
3UTR-3CDS	ENST00000461516	ENST00000409823	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
3UTR-3UTR	ENST00000461516	ENST00000421722	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
3UTR-intron	ENST00000461516	ENST00000447232	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
3UTR-intron	ENST00000461516	ENST00000432292	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
3UTR-intron	ENST00000461516	ENST00000409985	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+
3UTR-intron	ENST00000461516	ENST00000374826	ANKAR	chr2	190539556	+	PMS1	chr2	190728469	+

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FusionProtFeatures for ANKAR_PMS1

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

Hgene	Tgene
ANKAR Q7Z5J8	PMS1 P54277
	Probably involved in the repair of mismatches in DNA.{ECO:0000269\|PubMed:10748105}.

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 ANKAR_PMS1

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 ANKAR_PMS1

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
ANKAR	IQCB1	PMS1	MLH1, BRCA2, PSD2, UBC, EXO1, RFC2, PMS1, RFC4, RFC1, POLR1C, ATR, NONO, PGK1, TOP1, MCM6, SMC3, REV3L, IPO5, IPO9, RANBP9, RANGAP1, MMS19, USP5, USP13, UBAP2L, HERC2, CUL3, CUL1, USP9Y, RNF20, HELB, MOV10, BRIP1, KPNA2, SBF2, SBF1, CCNT1, CDK9, PIK3C2A, CDC5L, AKAP9, PPP2R1A, UBR5, CYLD, PSMC1, RNF123, FAN1, MSH6, MSH2, PSMC3, NTRK1, DYNLT1, PTTG1, CEP170P1, HIST1H1D, SNX21, BBS7, PAG1, AHNAK, VAMP3, HRAS, GNG5, PYGB, MCM9

- 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 ANKAR_PMS1

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 ANKAR_PMS1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 1693

FusionGeneSummary for ANKAR_PMS1

FusionProtFeatures for ANKAR_PMS1

FusionGeneSequence for ANKAR_PMS1

FusionGenePPI for ANKAR_PMS1

RelatedDrugs for ANKAR_PMS1

RelatedDiseases for ANKAR_PMS1