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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
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Fusion gene:MFSD6-PMS1 (FusionGDB2 ID:53288)

Fusion Gene Summary for MFSD6-PMS1

Fusion gene summary

Fusion gene information	Fusion gene name: MFSD6-PMS1
	Fusion gene ID: 53288
		Hgene	Tgene
	Gene symbol	MFSD6	PMS1
	Gene ID	54842	5378
	Gene name	major facilitator superfamily domain containing 6	PMS1 homolog 1, mismatch repair system component
	Synonyms	MMR2\|hMMR2	HNPCC3\|MLH2\|PMSL1\|hPMS1
	Cytomap	2q32.2	2q32.2
	Type of gene	protein-coding	protein-coding
	Description	major facilitator superfamily domain-containing protein 6macrophage MHC class I receptor 2 homologmacrophage MHC receptor 2	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	20200313	20200327
	UniProtAcc	Q6ZSS7	PMS1
	Ensembl transtripts involved in fusion gene	ENST00000281416, ENST00000392328, ENST00000489793, ENST00000535751,	ENST00000374826, ENST00000409985, ENST00000421722, ENST00000432292, ENST00000447232, ENST00000409823, ENST00000418224, ENST00000441310,
Fusion gene scores	* DoF score	8 X 3 X 5=120	11 X 6 X 7=462
	# samples	8	11
	** MAII score	log2(8/120*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/462*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: MFSD6 [Title/Abstract] AND PMS1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	MFSD6(191334581)-PMS1(190738222), # samples:2
Anticipated loss of major functional domain due to fusion event.	MFSD6-PMS1 seems lost the major protein functional domain in Tgene partner, which is a CGC 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 MFSD6 (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 PMS1 (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	OV	TCGA-24-1417-01A	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+

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Fusion Gene ORF analysis for MFSD6-PMS1

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
5CDS-intron	ENST00000281416	ENST00000374826	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000281416	ENST00000409985	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000281416	ENST00000421722	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000281416	ENST00000432292	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000281416	ENST00000447232	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000392328	ENST00000374826	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000392328	ENST00000409985	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000392328	ENST00000421722	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000392328	ENST00000432292	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000392328	ENST00000447232	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000489793	ENST00000374826	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000489793	ENST00000409985	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000489793	ENST00000421722	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000489793	ENST00000432292	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000489793	ENST00000447232	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000535751	ENST00000374826	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000535751	ENST00000409985	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000535751	ENST00000421722	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000535751	ENST00000432292	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
5CDS-intron	ENST00000535751	ENST00000447232	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
Frame-shift	ENST00000489793	ENST00000409823	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
Frame-shift	ENST00000489793	ENST00000418224	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
Frame-shift	ENST00000489793	ENST00000441310	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
In-frame	ENST00000281416	ENST00000409823	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
In-frame	ENST00000281416	ENST00000418224	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
In-frame	ENST00000281416	ENST00000441310	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
In-frame	ENST00000392328	ENST00000409823	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
In-frame	ENST00000392328	ENST00000418224	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
In-frame	ENST00000392328	ENST00000441310	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
In-frame	ENST00000535751	ENST00000409823	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
In-frame	ENST00000535751	ENST00000418224	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+
In-frame	ENST00000535751	ENST00000441310	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+

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)
ENST00000392328	MFSD6	chr2	191334581	+	ENST00000441310	PMS1	chr2	190738222	+	2473	1954	324	2279	651
ENST00000392328	MFSD6	chr2	191334581	+	ENST00000418224	PMS1	chr2	190738222	+	2471	1954	324	2279	651
ENST00000392328	MFSD6	chr2	191334581	+	ENST00000409823	PMS1	chr2	190738222	+	2280	1954	324	2279	651
ENST00000281416	MFSD6	chr2	191334581	+	ENST00000441310	PMS1	chr2	190738222	+	2284	1765	135	2090	651
ENST00000281416	MFSD6	chr2	191334581	+	ENST00000418224	PMS1	chr2	190738222	+	2282	1765	135	2090	651
ENST00000281416	MFSD6	chr2	191334581	+	ENST00000409823	PMS1	chr2	190738222	+	2091	1765	135	2090	651
ENST00000535751	MFSD6	chr2	191334581	+	ENST00000441310	PMS1	chr2	190738222	+	751	232	138	557	139
ENST00000535751	MFSD6	chr2	191334581	+	ENST00000418224	PMS1	chr2	190738222	+	749	232	138	557	139
ENST00000535751	MFSD6	chr2	191334581	+	ENST00000409823	PMS1	chr2	190738222	+	558	232	138	557	139

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
ENST00000392328	ENST00000441310	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+	0.000595692	0.9994043
ENST00000392328	ENST00000418224	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+	0.000587439	0.99941254
ENST00000392328	ENST00000409823	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+	0.001058201	0.99894184
ENST00000281416	ENST00000441310	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+	0.000274782	0.99972516
ENST00000281416	ENST00000418224	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+	0.000271981	0.999728
ENST00000281416	ENST00000409823	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+	0.000427141	0.9995728
ENST00000535751	ENST00000441310	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+	0.018855961	0.9811441
ENST00000535751	ENST00000418224	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+	0.0191697	0.9808303
ENST00000535751	ENST00000409823	MFSD6	chr2	191334581	+	PMS1	chr2	190738222	+	0.014137094	0.9858629

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Fusion Genomic Features for MFSD6-PMS1

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)

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 MFSD6-PMS1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:191334581/chr2:190738222)
- 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
MFSD6 Q6ZSS7	PMS1 PMS1
	932

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

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000281416

105_125

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000281416

132_152

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000281416

286_306

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000281416

335_355

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000281416

369_389

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000281416

450_470

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000281416

479_499

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000281416

507_527

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000281416

73_93

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000392328

105_125

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000392328

132_152

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000392328

286_306

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000392328

335_355

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000392328

369_389

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000392328

450_470

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000392328

479_499

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000392328

507_527

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000392328

73_93

543

792.0

Transmembrane

Helical

- 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

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000281416

544_564

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000281416

579_599

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000281416

605_625

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000392328

544_564

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000392328

579_599

543

792.0

Transmembrane

Helical

Hgene

MFSD6

chr2:191334581

chr2:190738222

ENST00000392328

605_625

543

792.0

Transmembrane

Helical

Tgene

PMS1

chr2:191334581

chr2:190738222

ENST00000409823

571_639

785

894.0

DNA binding

HMG box

Tgene

PMS1

chr2:191334581

chr2:190738222

ENST00000441310

571_639

824

933.0

DNA binding

HMG box

Tgene

PMS1

chr2:191334581

chr2:190738222

ENST00000447232

571_639

662

771.0

DNA binding

HMG box

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Fusion Gene Sequence for MFSD6-PMS1

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.

>53288_53288_1_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000281416_PMS1_chr2_190738222_ENST00000409823_length(transcript)=2091nt_BP=1765nt
CTTAATTTCCTGCAAGATGAAGTTCTGTGTTTACATGTTATGATTTTCATTACTAAGCCATCTTTTAAATTTTACTTTACAGATCAACAG
TACAAATTCTGAAGTTTGTAAACTTGCTGATGGTGGTGGTAAGCCATGGCAGATGATAAAGTTGCTATCTTAACGGATGATGAAGAGGAA
CAGAAGAGAAAGTATGTGCTTGCAGATCCCTTTAATGGTATTTCCAGGGAACCAGAACCACCTTCGAATGAAACACCTTCCTCCACAGAA
ACATCTGCTATTCCTGAGGAGGAAATAGACTGGATAGAGAAACATTGTGTTAAGATAAACAACGATCTTCTAATTTCCAAGGTCTTTTAT
TTTTTCTTTTACTCTGCCTATGGCTCTCTCTATCCCCTTTTGCCTGTGTATTACAAACAGCTGGGAATGTCTCCAAGCCAGAGTGGACTA
CTAGTAGGTATTCGTTACTTCATTGAATTCTGCAGTGCCCCCTTTTGGGGTGTAGTTGCAGACCGCTTTAAAAAAGGCAAAATTGTCCTC
CTCTTTTCTCTTTTGTGTTGGGTTTTATTCAACCTGGGCATTGGATTTGTCAAACCTGCTACCTTGAGATGTGTACCAAAGATTCGCCCA
ACAACTCACCCCACCAATGCAAGTCACCAGTTAACTATCCTGCCAACAAATTCTTCCTTTACCTCTTTCCTCACCATATCACCAAAAATG
CGTGAGAAAAGAAACCTTTTGGAAACAAGGCTCAATGTCTCAGACACCGTTACTTTGCCAACAGCTCCAAACATGAACAGTGAACCCACT
CTGCAGCCCCAGACAGGTGAAATTACTAACCGTATGATGGACTTGACTTTGAACTCAAGCACAGCAACCCCTGTCTCCCCAGGAAGCGTA
ACCAAGGAGACAACCACTGTTATTGTTACCACCACCAAATCTTTACCTTCTGACCAAGTCATGCTTGTTTATGATCAACAAGAAGTTGAA
GCTATATTCTTGGTGATCTTGGTAGTTGTCATAATAGGAGAATTTTTCAGTGCCTCTTCTGTCACAATCGTAGACACGGTCACACTCCAG
TATCTGGGAAAACACAGAGATCGCTATGGGTTGCAGCGCATGTGGGGCTCCCTGGGCTGGGGCCTGGCGATGCTGTCTGTGGGCATCGGG
ATCGACTACACCCACATCGAAGTGCTCATCGATGGAAAGGGGTGTAAGCCCCCCGAGTACAGGAATTACCAGATCGTCTTCATCGTCTTC
GGCGTTCTCATGACCATGGCCTTGATCGTTGCCACTCAGTTCCGGTTCCGCTACAACCATTTCAAAAACGATGATTCTAAAGGGAAAGAG
GTGGAGATCCCGCAGGTGGAAAGGAACAACTCTACAGAGTCCTCTGAGGAGACACCAACCACCACAAGCCACTCGCAGGCCTTCAACTTT
TGGGACTTAATCAAGCTGCTCTGCAGCGTGCAGTATGGCTCAGTGCTGTTTGTGGCTTGGTTCATGGGTTTTGGATATGGCTTCGTGTTC
ACCTTTCTCTACTGGCATTTGGAAGACCTCAATGGAACTACAACCCTCTTTGGGGTCTGTTCAGTCCTGAGTCATGTGTCTGAGCTGACA
GCATATTTTTTTAGTCACAAGCTTATTGAATTGATCGGCCACATCAGGGTTCTGTACATTGGCCTGGCCTGCAATACGGCTCGCTATATT
TATATTTCCTACCTGGAGAATGCCTGGACTGTTCTCCCCATGGAAGTTCTTCAAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAA
GGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTAT
GAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGGGAGAAGCAGTGCGTCTATCCAGACAATTACCCATGTACTTATCAAAAGAGGAC
ATCCAAGACATTATCTACAGAATGAAGCACCAGTTTGGAAATGAAATTAAAGAGTGTGTTCATGGTCGCCCATTTTTTCATCATTTAACC

>53288_53288_1_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000281416_PMS1_chr2_190738222_ENST00000409823_length(amino acids)=651AA_BP=541
MADDKVAILTDDEEEQKRKYVLADPFNGISREPEPPSNETPSSTETSAIPEEEIDWIEKHCVKINNDLLISKVFYFFFYSAYGSLYPLLP
VYYKQLGMSPSQSGLLVGIRYFIEFCSAPFWGVVADRFKKGKIVLLFSLLCWVLFNLGIGFVKPATLRCVPKIRPTTHPTNASHQLTILP
TNSSFTSFLTISPKMREKRNLLETRLNVSDTVTLPTAPNMNSEPTLQPQTGEITNRMMDLTLNSSTATPVSPGSVTKETTTVIVTTTKSL
PSDQVMLVYDQQEVEAIFLVILVVVIIGEFFSASSVTIVDTVTLQYLGKHRDRYGLQRMWGSLGWGLAMLSVGIGIDYTHIEVLIDGKGC
KPPEYRNYQIVFIVFGVLMTMALIVATQFRFRYNHFKNDDSKGKEVEIPQVERNNSTESSEETPTTTSHSQAFNFWDLIKLLCSVQYGSV
LFVAWFMGFGYGFVFTFLYWHLEDLNGTTTLFGVCSVLSHVSELTAYFFSHKLIELIGHIRVLYIGLACNTARYIYISYLENAWTVLPME
VLQGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDIIYRMKHQFGNE

--------------------------------------------------------------
>53288_53288_2_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000281416_PMS1_chr2_190738222_ENST00000418224_length(transcript)=2282nt_BP=1765nt
CTTAATTTCCTGCAAGATGAAGTTCTGTGTTTACATGTTATGATTTTCATTACTAAGCCATCTTTTAAATTTTACTTTACAGATCAACAG
TACAAATTCTGAAGTTTGTAAACTTGCTGATGGTGGTGGTAAGCCATGGCAGATGATAAAGTTGCTATCTTAACGGATGATGAAGAGGAA
CAGAAGAGAAAGTATGTGCTTGCAGATCCCTTTAATGGTATTTCCAGGGAACCAGAACCACCTTCGAATGAAACACCTTCCTCCACAGAA
ACATCTGCTATTCCTGAGGAGGAAATAGACTGGATAGAGAAACATTGTGTTAAGATAAACAACGATCTTCTAATTTCCAAGGTCTTTTAT
TTTTTCTTTTACTCTGCCTATGGCTCTCTCTATCCCCTTTTGCCTGTGTATTACAAACAGCTGGGAATGTCTCCAAGCCAGAGTGGACTA
CTAGTAGGTATTCGTTACTTCATTGAATTCTGCAGTGCCCCCTTTTGGGGTGTAGTTGCAGACCGCTTTAAAAAAGGCAAAATTGTCCTC
CTCTTTTCTCTTTTGTGTTGGGTTTTATTCAACCTGGGCATTGGATTTGTCAAACCTGCTACCTTGAGATGTGTACCAAAGATTCGCCCA
ACAACTCACCCCACCAATGCAAGTCACCAGTTAACTATCCTGCCAACAAATTCTTCCTTTACCTCTTTCCTCACCATATCACCAAAAATG
CGTGAGAAAAGAAACCTTTTGGAAACAAGGCTCAATGTCTCAGACACCGTTACTTTGCCAACAGCTCCAAACATGAACAGTGAACCCACT
CTGCAGCCCCAGACAGGTGAAATTACTAACCGTATGATGGACTTGACTTTGAACTCAAGCACAGCAACCCCTGTCTCCCCAGGAAGCGTA
ACCAAGGAGACAACCACTGTTATTGTTACCACCACCAAATCTTTACCTTCTGACCAAGTCATGCTTGTTTATGATCAACAAGAAGTTGAA
GCTATATTCTTGGTGATCTTGGTAGTTGTCATAATAGGAGAATTTTTCAGTGCCTCTTCTGTCACAATCGTAGACACGGTCACACTCCAG
TATCTGGGAAAACACAGAGATCGCTATGGGTTGCAGCGCATGTGGGGCTCCCTGGGCTGGGGCCTGGCGATGCTGTCTGTGGGCATCGGG
ATCGACTACACCCACATCGAAGTGCTCATCGATGGAAAGGGGTGTAAGCCCCCCGAGTACAGGAATTACCAGATCGTCTTCATCGTCTTC
GGCGTTCTCATGACCATGGCCTTGATCGTTGCCACTCAGTTCCGGTTCCGCTACAACCATTTCAAAAACGATGATTCTAAAGGGAAAGAG
GTGGAGATCCCGCAGGTGGAAAGGAACAACTCTACAGAGTCCTCTGAGGAGACACCAACCACCACAAGCCACTCGCAGGCCTTCAACTTT
TGGGACTTAATCAAGCTGCTCTGCAGCGTGCAGTATGGCTCAGTGCTGTTTGTGGCTTGGTTCATGGGTTTTGGATATGGCTTCGTGTTC
ACCTTTCTCTACTGGCATTTGGAAGACCTCAATGGAACTACAACCCTCTTTGGGGTCTGTTCAGTCCTGAGTCATGTGTCTGAGCTGACA
GCATATTTTTTTAGTCACAAGCTTATTGAATTGATCGGCCACATCAGGGTTCTGTACATTGGCCTGGCCTGCAATACGGCTCGCTATATT
TATATTTCCTACCTGGAGAATGCCTGGACTGTTCTCCCCATGGAAGTTCTTCAAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAA
GGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTAT
GAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGGGAGAAGCAGTGCGTCTATCCAGACAATTACCCATGTACTTATCAAAAGAGGAC
ATCCAAGACATTATCTACAGAATGAAGCACCAGTTTGGAAATGAAATTAAAGAGTGTGTTCATGGTCGCCCATTTTTTCATCATTTAACC
TATCTTCCAGAAACTACATGATTAAATATGTTTAAGAAGATTAGTTACCATTGAAATTGGTTCTGTCATAAAACAGCATGAGTCTGGTTT
TAAATTATCTTTGTATTATGTGTCACATGGTTATTTTTTAAATGAGGATTCACTGACTTGTTTTTATATTGAAAAAAGTTCCACGTATTG

>53288_53288_2_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000281416_PMS1_chr2_190738222_ENST00000418224_length(amino acids)=651AA_BP=541
MADDKVAILTDDEEEQKRKYVLADPFNGISREPEPPSNETPSSTETSAIPEEEIDWIEKHCVKINNDLLISKVFYFFFYSAYGSLYPLLP
VYYKQLGMSPSQSGLLVGIRYFIEFCSAPFWGVVADRFKKGKIVLLFSLLCWVLFNLGIGFVKPATLRCVPKIRPTTHPTNASHQLTILP
TNSSFTSFLTISPKMREKRNLLETRLNVSDTVTLPTAPNMNSEPTLQPQTGEITNRMMDLTLNSSTATPVSPGSVTKETTTVIVTTTKSL
PSDQVMLVYDQQEVEAIFLVILVVVIIGEFFSASSVTIVDTVTLQYLGKHRDRYGLQRMWGSLGWGLAMLSVGIGIDYTHIEVLIDGKGC
KPPEYRNYQIVFIVFGVLMTMALIVATQFRFRYNHFKNDDSKGKEVEIPQVERNNSTESSEETPTTTSHSQAFNFWDLIKLLCSVQYGSV
LFVAWFMGFGYGFVFTFLYWHLEDLNGTTTLFGVCSVLSHVSELTAYFFSHKLIELIGHIRVLYIGLACNTARYIYISYLENAWTVLPME
VLQGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDIIYRMKHQFGNE

--------------------------------------------------------------
>53288_53288_3_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000281416_PMS1_chr2_190738222_ENST00000441310_length(transcript)=2284nt_BP=1765nt
CTTAATTTCCTGCAAGATGAAGTTCTGTGTTTACATGTTATGATTTTCATTACTAAGCCATCTTTTAAATTTTACTTTACAGATCAACAG
TACAAATTCTGAAGTTTGTAAACTTGCTGATGGTGGTGGTAAGCCATGGCAGATGATAAAGTTGCTATCTTAACGGATGATGAAGAGGAA
CAGAAGAGAAAGTATGTGCTTGCAGATCCCTTTAATGGTATTTCCAGGGAACCAGAACCACCTTCGAATGAAACACCTTCCTCCACAGAA
ACATCTGCTATTCCTGAGGAGGAAATAGACTGGATAGAGAAACATTGTGTTAAGATAAACAACGATCTTCTAATTTCCAAGGTCTTTTAT
TTTTTCTTTTACTCTGCCTATGGCTCTCTCTATCCCCTTTTGCCTGTGTATTACAAACAGCTGGGAATGTCTCCAAGCCAGAGTGGACTA
CTAGTAGGTATTCGTTACTTCATTGAATTCTGCAGTGCCCCCTTTTGGGGTGTAGTTGCAGACCGCTTTAAAAAAGGCAAAATTGTCCTC
CTCTTTTCTCTTTTGTGTTGGGTTTTATTCAACCTGGGCATTGGATTTGTCAAACCTGCTACCTTGAGATGTGTACCAAAGATTCGCCCA
ACAACTCACCCCACCAATGCAAGTCACCAGTTAACTATCCTGCCAACAAATTCTTCCTTTACCTCTTTCCTCACCATATCACCAAAAATG
CGTGAGAAAAGAAACCTTTTGGAAACAAGGCTCAATGTCTCAGACACCGTTACTTTGCCAACAGCTCCAAACATGAACAGTGAACCCACT
CTGCAGCCCCAGACAGGTGAAATTACTAACCGTATGATGGACTTGACTTTGAACTCAAGCACAGCAACCCCTGTCTCCCCAGGAAGCGTA
ACCAAGGAGACAACCACTGTTATTGTTACCACCACCAAATCTTTACCTTCTGACCAAGTCATGCTTGTTTATGATCAACAAGAAGTTGAA
GCTATATTCTTGGTGATCTTGGTAGTTGTCATAATAGGAGAATTTTTCAGTGCCTCTTCTGTCACAATCGTAGACACGGTCACACTCCAG
TATCTGGGAAAACACAGAGATCGCTATGGGTTGCAGCGCATGTGGGGCTCCCTGGGCTGGGGCCTGGCGATGCTGTCTGTGGGCATCGGG
ATCGACTACACCCACATCGAAGTGCTCATCGATGGAAAGGGGTGTAAGCCCCCCGAGTACAGGAATTACCAGATCGTCTTCATCGTCTTC
GGCGTTCTCATGACCATGGCCTTGATCGTTGCCACTCAGTTCCGGTTCCGCTACAACCATTTCAAAAACGATGATTCTAAAGGGAAAGAG
GTGGAGATCCCGCAGGTGGAAAGGAACAACTCTACAGAGTCCTCTGAGGAGACACCAACCACCACAAGCCACTCGCAGGCCTTCAACTTT
TGGGACTTAATCAAGCTGCTCTGCAGCGTGCAGTATGGCTCAGTGCTGTTTGTGGCTTGGTTCATGGGTTTTGGATATGGCTTCGTGTTC
ACCTTTCTCTACTGGCATTTGGAAGACCTCAATGGAACTACAACCCTCTTTGGGGTCTGTTCAGTCCTGAGTCATGTGTCTGAGCTGACA
GCATATTTTTTTAGTCACAAGCTTATTGAATTGATCGGCCACATCAGGGTTCTGTACATTGGCCTGGCCTGCAATACGGCTCGCTATATT
TATATTTCCTACCTGGAGAATGCCTGGACTGTTCTCCCCATGGAAGTTCTTCAAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAA
GGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTAT
GAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGGGAGAAGCAGTGCGTCTATCCAGACAATTACCCATGTACTTATCAAAAGAGGAC
ATCCAAGACATTATCTACAGAATGAAGCACCAGTTTGGAAATGAAATTAAAGAGTGTGTTCATGGTCGCCCATTTTTTCATCATTTAACC
TATCTTCCAGAAACTACATGATTAAATATGTTTAAGAAGATTAGTTACCATTGAAATTGGTTCTGTCATAAAACAGCATGAGTCTGGTTT
TAAATTATCTTTGTATTATGTGTCACATGGTTATTTTTTAAATGAGGATTCACTGACTTGTTTTTATATTGAAAAAAGTTCCACGTATTG

>53288_53288_3_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000281416_PMS1_chr2_190738222_ENST00000441310_length(amino acids)=651AA_BP=541
MADDKVAILTDDEEEQKRKYVLADPFNGISREPEPPSNETPSSTETSAIPEEEIDWIEKHCVKINNDLLISKVFYFFFYSAYGSLYPLLP
VYYKQLGMSPSQSGLLVGIRYFIEFCSAPFWGVVADRFKKGKIVLLFSLLCWVLFNLGIGFVKPATLRCVPKIRPTTHPTNASHQLTILP
TNSSFTSFLTISPKMREKRNLLETRLNVSDTVTLPTAPNMNSEPTLQPQTGEITNRMMDLTLNSSTATPVSPGSVTKETTTVIVTTTKSL
PSDQVMLVYDQQEVEAIFLVILVVVIIGEFFSASSVTIVDTVTLQYLGKHRDRYGLQRMWGSLGWGLAMLSVGIGIDYTHIEVLIDGKGC
KPPEYRNYQIVFIVFGVLMTMALIVATQFRFRYNHFKNDDSKGKEVEIPQVERNNSTESSEETPTTTSHSQAFNFWDLIKLLCSVQYGSV
LFVAWFMGFGYGFVFTFLYWHLEDLNGTTTLFGVCSVLSHVSELTAYFFSHKLIELIGHIRVLYIGLACNTARYIYISYLENAWTVLPME
VLQGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDIIYRMKHQFGNE

--------------------------------------------------------------
>53288_53288_4_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000392328_PMS1_chr2_190738222_ENST00000409823_length(transcript)=2280nt_BP=1954nt
GTCGCAGCCCCGGAGGAGCGCGCGAGCAGCCCGGGATGGTGCGCGCTGCCCCGACAGCCGCCGCCCCGGCGCCCCGAGCCGCCGCCCCGT
GCTCCGGGGACAGGGCTCCCCGCGCCCCGCGCAGCTGAGCGCTGCCGCCGCCGCAGCAGACAGGATCTCTCTCAGTTACCCAGGCCGGAG
TGCAGTGGCGTGATCCTAGCTCACTGCAGCCTTGAACCCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCTGAATAGCTAGAACTACA
GATCAACAGTACAAATTCTGAAGTTTGTAAACTTGCTGATGGTGGTGGTAAGCCATGGCAGATGATAAAGTTGCTATCTTAACGGATGAT
GAAGAGGAACAGAAGAGAAAGTATGTGCTTGCAGATCCCTTTAATGGTATTTCCAGGGAACCAGAACCACCTTCGAATGAAACACCTTCC
TCCACAGAAACATCTGCTATTCCTGAGGAGGAAATAGACTGGATAGAGAAACATTGTGTTAAGATAAACAACGATCTTCTAATTTCCAAG
GTCTTTTATTTTTTCTTTTACTCTGCCTATGGCTCTCTCTATCCCCTTTTGCCTGTGTATTACAAACAGCTGGGAATGTCTCCAAGCCAG
AGTGGACTACTAGTAGGTATTCGTTACTTCATTGAATTCTGCAGTGCCCCCTTTTGGGGTGTAGTTGCAGACCGCTTTAAAAAAGGCAAA
ATTGTCCTCCTCTTTTCTCTTTTGTGTTGGGTTTTATTCAACCTGGGCATTGGATTTGTCAAACCTGCTACCTTGAGATGTGTACCAAAG
ATTCGCCCAACAACTCACCCCACCAATGCAAGTCACCAGTTAACTATCCTGCCAACAAATTCTTCCTTTACCTCTTTCCTCACCATATCA
CCAAAAATGCGTGAGAAAAGAAACCTTTTGGAAACAAGGCTCAATGTCTCAGACACCGTTACTTTGCCAACAGCTCCAAACATGAACAGT
GAACCCACTCTGCAGCCCCAGACAGGTGAAATTACTAACCGTATGATGGACTTGACTTTGAACTCAAGCACAGCAACCCCTGTCTCCCCA
GGAAGCGTAACCAAGGAGACAACCACTGTTATTGTTACCACCACCAAATCTTTACCTTCTGACCAAGTCATGCTTGTTTATGATCAACAA
GAAGTTGAAGCTATATTCTTGGTGATCTTGGTAGTTGTCATAATAGGAGAATTTTTCAGTGCCTCTTCTGTCACAATCGTAGACACGGTC
ACACTCCAGTATCTGGGAAAACACAGAGATCGCTATGGGTTGCAGCGCATGTGGGGCTCCCTGGGCTGGGGCCTGGCGATGCTGTCTGTG
GGCATCGGGATCGACTACACCCACATCGAAGTGCTCATCGATGGAAAGGGGTGTAAGCCCCCCGAGTACAGGAATTACCAGATCGTCTTC
ATCGTCTTCGGCGTTCTCATGACCATGGCCTTGATCGTTGCCACTCAGTTCCGGTTCCGCTACAACCATTTCAAAAACGATGATTCTAAA
GGGAAAGAGGTGGAGATCCCGCAGGTGGAAAGGAACAACTCTACAGAGTCCTCTGAGGAGACACCAACCACCACAAGCCACTCGCAGGCC
TTCAACTTTTGGGACTTAATCAAGCTGCTCTGCAGCGTGCAGTATGGCTCAGTGCTGTTTGTGGCTTGGTTCATGGGTTTTGGATATGGC
TTCGTGTTCACCTTTCTCTACTGGCATTTGGAAGACCTCAATGGAACTACAACCCTCTTTGGGGTCTGTTCAGTCCTGAGTCATGTGTCT
GAGCTGACAGCATATTTTTTTAGTCACAAGCTTATTGAATTGATCGGCCACATCAGGGTTCTGTACATTGGCCTGGCCTGCAATACGGCT
CGCTATATTTATATTTCCTACCTGGAGAATGCCTGGACTGTTCTCCCCATGGAAGTTCTTCAAGGAGTTTCAATTACTGAAAATTACTTG
GAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAG
GAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGGGAGAAGCAGTGCGTCTATCCAGACAATTACCCATGTACTTATCA
AAAGAGGACATCCAAGACATTATCTACAGAATGAAGCACCAGTTTGGAAATGAAATTAAAGAGTGTGTTCATGGTCGCCCATTTTTTCAT

>53288_53288_4_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000392328_PMS1_chr2_190738222_ENST00000409823_length(amino acids)=651AA_BP=541
MADDKVAILTDDEEEQKRKYVLADPFNGISREPEPPSNETPSSTETSAIPEEEIDWIEKHCVKINNDLLISKVFYFFFYSAYGSLYPLLP
VYYKQLGMSPSQSGLLVGIRYFIEFCSAPFWGVVADRFKKGKIVLLFSLLCWVLFNLGIGFVKPATLRCVPKIRPTTHPTNASHQLTILP
TNSSFTSFLTISPKMREKRNLLETRLNVSDTVTLPTAPNMNSEPTLQPQTGEITNRMMDLTLNSSTATPVSPGSVTKETTTVIVTTTKSL
PSDQVMLVYDQQEVEAIFLVILVVVIIGEFFSASSVTIVDTVTLQYLGKHRDRYGLQRMWGSLGWGLAMLSVGIGIDYTHIEVLIDGKGC
KPPEYRNYQIVFIVFGVLMTMALIVATQFRFRYNHFKNDDSKGKEVEIPQVERNNSTESSEETPTTTSHSQAFNFWDLIKLLCSVQYGSV
LFVAWFMGFGYGFVFTFLYWHLEDLNGTTTLFGVCSVLSHVSELTAYFFSHKLIELIGHIRVLYIGLACNTARYIYISYLENAWTVLPME
VLQGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDIIYRMKHQFGNE

--------------------------------------------------------------
>53288_53288_5_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000392328_PMS1_chr2_190738222_ENST00000418224_length(transcript)=2471nt_BP=1954nt
GTCGCAGCCCCGGAGGAGCGCGCGAGCAGCCCGGGATGGTGCGCGCTGCCCCGACAGCCGCCGCCCCGGCGCCCCGAGCCGCCGCCCCGT
GCTCCGGGGACAGGGCTCCCCGCGCCCCGCGCAGCTGAGCGCTGCCGCCGCCGCAGCAGACAGGATCTCTCTCAGTTACCCAGGCCGGAG
TGCAGTGGCGTGATCCTAGCTCACTGCAGCCTTGAACCCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCTGAATAGCTAGAACTACA
GATCAACAGTACAAATTCTGAAGTTTGTAAACTTGCTGATGGTGGTGGTAAGCCATGGCAGATGATAAAGTTGCTATCTTAACGGATGAT
GAAGAGGAACAGAAGAGAAAGTATGTGCTTGCAGATCCCTTTAATGGTATTTCCAGGGAACCAGAACCACCTTCGAATGAAACACCTTCC
TCCACAGAAACATCTGCTATTCCTGAGGAGGAAATAGACTGGATAGAGAAACATTGTGTTAAGATAAACAACGATCTTCTAATTTCCAAG
GTCTTTTATTTTTTCTTTTACTCTGCCTATGGCTCTCTCTATCCCCTTTTGCCTGTGTATTACAAACAGCTGGGAATGTCTCCAAGCCAG
AGTGGACTACTAGTAGGTATTCGTTACTTCATTGAATTCTGCAGTGCCCCCTTTTGGGGTGTAGTTGCAGACCGCTTTAAAAAAGGCAAA
ATTGTCCTCCTCTTTTCTCTTTTGTGTTGGGTTTTATTCAACCTGGGCATTGGATTTGTCAAACCTGCTACCTTGAGATGTGTACCAAAG
ATTCGCCCAACAACTCACCCCACCAATGCAAGTCACCAGTTAACTATCCTGCCAACAAATTCTTCCTTTACCTCTTTCCTCACCATATCA
CCAAAAATGCGTGAGAAAAGAAACCTTTTGGAAACAAGGCTCAATGTCTCAGACACCGTTACTTTGCCAACAGCTCCAAACATGAACAGT
GAACCCACTCTGCAGCCCCAGACAGGTGAAATTACTAACCGTATGATGGACTTGACTTTGAACTCAAGCACAGCAACCCCTGTCTCCCCA
GGAAGCGTAACCAAGGAGACAACCACTGTTATTGTTACCACCACCAAATCTTTACCTTCTGACCAAGTCATGCTTGTTTATGATCAACAA
GAAGTTGAAGCTATATTCTTGGTGATCTTGGTAGTTGTCATAATAGGAGAATTTTTCAGTGCCTCTTCTGTCACAATCGTAGACACGGTC
ACACTCCAGTATCTGGGAAAACACAGAGATCGCTATGGGTTGCAGCGCATGTGGGGCTCCCTGGGCTGGGGCCTGGCGATGCTGTCTGTG
GGCATCGGGATCGACTACACCCACATCGAAGTGCTCATCGATGGAAAGGGGTGTAAGCCCCCCGAGTACAGGAATTACCAGATCGTCTTC
ATCGTCTTCGGCGTTCTCATGACCATGGCCTTGATCGTTGCCACTCAGTTCCGGTTCCGCTACAACCATTTCAAAAACGATGATTCTAAA
GGGAAAGAGGTGGAGATCCCGCAGGTGGAAAGGAACAACTCTACAGAGTCCTCTGAGGAGACACCAACCACCACAAGCCACTCGCAGGCC
TTCAACTTTTGGGACTTAATCAAGCTGCTCTGCAGCGTGCAGTATGGCTCAGTGCTGTTTGTGGCTTGGTTCATGGGTTTTGGATATGGC
TTCGTGTTCACCTTTCTCTACTGGCATTTGGAAGACCTCAATGGAACTACAACCCTCTTTGGGGTCTGTTCAGTCCTGAGTCATGTGTCT
GAGCTGACAGCATATTTTTTTAGTCACAAGCTTATTGAATTGATCGGCCACATCAGGGTTCTGTACATTGGCCTGGCCTGCAATACGGCT
CGCTATATTTATATTTCCTACCTGGAGAATGCCTGGACTGTTCTCCCCATGGAAGTTCTTCAAGGAGTTTCAATTACTGAAAATTACTTG
GAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAG
GAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGGGAGAAGCAGTGCGTCTATCCAGACAATTACCCATGTACTTATCA
AAAGAGGACATCCAAGACATTATCTACAGAATGAAGCACCAGTTTGGAAATGAAATTAAAGAGTGTGTTCATGGTCGCCCATTTTTTCAT
CATTTAACCTATCTTCCAGAAACTACATGATTAAATATGTTTAAGAAGATTAGTTACCATTGAAATTGGTTCTGTCATAAAACAGCATGA
GTCTGGTTTTAAATTATCTTTGTATTATGTGTCACATGGTTATTTTTTAAATGAGGATTCACTGACTTGTTTTTATATTGAAAAAAGTTC

>53288_53288_5_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000392328_PMS1_chr2_190738222_ENST00000418224_length(amino acids)=651AA_BP=541
MADDKVAILTDDEEEQKRKYVLADPFNGISREPEPPSNETPSSTETSAIPEEEIDWIEKHCVKINNDLLISKVFYFFFYSAYGSLYPLLP
VYYKQLGMSPSQSGLLVGIRYFIEFCSAPFWGVVADRFKKGKIVLLFSLLCWVLFNLGIGFVKPATLRCVPKIRPTTHPTNASHQLTILP
TNSSFTSFLTISPKMREKRNLLETRLNVSDTVTLPTAPNMNSEPTLQPQTGEITNRMMDLTLNSSTATPVSPGSVTKETTTVIVTTTKSL
PSDQVMLVYDQQEVEAIFLVILVVVIIGEFFSASSVTIVDTVTLQYLGKHRDRYGLQRMWGSLGWGLAMLSVGIGIDYTHIEVLIDGKGC
KPPEYRNYQIVFIVFGVLMTMALIVATQFRFRYNHFKNDDSKGKEVEIPQVERNNSTESSEETPTTTSHSQAFNFWDLIKLLCSVQYGSV
LFVAWFMGFGYGFVFTFLYWHLEDLNGTTTLFGVCSVLSHVSELTAYFFSHKLIELIGHIRVLYIGLACNTARYIYISYLENAWTVLPME
VLQGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDIIYRMKHQFGNE

--------------------------------------------------------------
>53288_53288_6_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000392328_PMS1_chr2_190738222_ENST00000441310_length(transcript)=2473nt_BP=1954nt
GTCGCAGCCCCGGAGGAGCGCGCGAGCAGCCCGGGATGGTGCGCGCTGCCCCGACAGCCGCCGCCCCGGCGCCCCGAGCCGCCGCCCCGT
GCTCCGGGGACAGGGCTCCCCGCGCCCCGCGCAGCTGAGCGCTGCCGCCGCCGCAGCAGACAGGATCTCTCTCAGTTACCCAGGCCGGAG
TGCAGTGGCGTGATCCTAGCTCACTGCAGCCTTGAACCCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCTGAATAGCTAGAACTACA
GATCAACAGTACAAATTCTGAAGTTTGTAAACTTGCTGATGGTGGTGGTAAGCCATGGCAGATGATAAAGTTGCTATCTTAACGGATGAT
GAAGAGGAACAGAAGAGAAAGTATGTGCTTGCAGATCCCTTTAATGGTATTTCCAGGGAACCAGAACCACCTTCGAATGAAACACCTTCC
TCCACAGAAACATCTGCTATTCCTGAGGAGGAAATAGACTGGATAGAGAAACATTGTGTTAAGATAAACAACGATCTTCTAATTTCCAAG
GTCTTTTATTTTTTCTTTTACTCTGCCTATGGCTCTCTCTATCCCCTTTTGCCTGTGTATTACAAACAGCTGGGAATGTCTCCAAGCCAG
AGTGGACTACTAGTAGGTATTCGTTACTTCATTGAATTCTGCAGTGCCCCCTTTTGGGGTGTAGTTGCAGACCGCTTTAAAAAAGGCAAA
ATTGTCCTCCTCTTTTCTCTTTTGTGTTGGGTTTTATTCAACCTGGGCATTGGATTTGTCAAACCTGCTACCTTGAGATGTGTACCAAAG
ATTCGCCCAACAACTCACCCCACCAATGCAAGTCACCAGTTAACTATCCTGCCAACAAATTCTTCCTTTACCTCTTTCCTCACCATATCA
CCAAAAATGCGTGAGAAAAGAAACCTTTTGGAAACAAGGCTCAATGTCTCAGACACCGTTACTTTGCCAACAGCTCCAAACATGAACAGT
GAACCCACTCTGCAGCCCCAGACAGGTGAAATTACTAACCGTATGATGGACTTGACTTTGAACTCAAGCACAGCAACCCCTGTCTCCCCA
GGAAGCGTAACCAAGGAGACAACCACTGTTATTGTTACCACCACCAAATCTTTACCTTCTGACCAAGTCATGCTTGTTTATGATCAACAA
GAAGTTGAAGCTATATTCTTGGTGATCTTGGTAGTTGTCATAATAGGAGAATTTTTCAGTGCCTCTTCTGTCACAATCGTAGACACGGTC
ACACTCCAGTATCTGGGAAAACACAGAGATCGCTATGGGTTGCAGCGCATGTGGGGCTCCCTGGGCTGGGGCCTGGCGATGCTGTCTGTG
GGCATCGGGATCGACTACACCCACATCGAAGTGCTCATCGATGGAAAGGGGTGTAAGCCCCCCGAGTACAGGAATTACCAGATCGTCTTC
ATCGTCTTCGGCGTTCTCATGACCATGGCCTTGATCGTTGCCACTCAGTTCCGGTTCCGCTACAACCATTTCAAAAACGATGATTCTAAA
GGGAAAGAGGTGGAGATCCCGCAGGTGGAAAGGAACAACTCTACAGAGTCCTCTGAGGAGACACCAACCACCACAAGCCACTCGCAGGCC
TTCAACTTTTGGGACTTAATCAAGCTGCTCTGCAGCGTGCAGTATGGCTCAGTGCTGTTTGTGGCTTGGTTCATGGGTTTTGGATATGGC
TTCGTGTTCACCTTTCTCTACTGGCATTTGGAAGACCTCAATGGAACTACAACCCTCTTTGGGGTCTGTTCAGTCCTGAGTCATGTGTCT
GAGCTGACAGCATATTTTTTTAGTCACAAGCTTATTGAATTGATCGGCCACATCAGGGTTCTGTACATTGGCCTGGCCTGCAATACGGCT
CGCTATATTTATATTTCCTACCTGGAGAATGCCTGGACTGTTCTCCCCATGGAAGTTCTTCAAGGAGTTTCAATTACTGAAAATTACTTG
GAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAG
GAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGGGAGAAGCAGTGCGTCTATCCAGACAATTACCCATGTACTTATCA
AAAGAGGACATCCAAGACATTATCTACAGAATGAAGCACCAGTTTGGAAATGAAATTAAAGAGTGTGTTCATGGTCGCCCATTTTTTCAT
CATTTAACCTATCTTCCAGAAACTACATGATTAAATATGTTTAAGAAGATTAGTTACCATTGAAATTGGTTCTGTCATAAAACAGCATGA
GTCTGGTTTTAAATTATCTTTGTATTATGTGTCACATGGTTATTTTTTAAATGAGGATTCACTGACTTGTTTTTATATTGAAAAAAGTTC

>53288_53288_6_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000392328_PMS1_chr2_190738222_ENST00000441310_length(amino acids)=651AA_BP=541
MADDKVAILTDDEEEQKRKYVLADPFNGISREPEPPSNETPSSTETSAIPEEEIDWIEKHCVKINNDLLISKVFYFFFYSAYGSLYPLLP
VYYKQLGMSPSQSGLLVGIRYFIEFCSAPFWGVVADRFKKGKIVLLFSLLCWVLFNLGIGFVKPATLRCVPKIRPTTHPTNASHQLTILP
TNSSFTSFLTISPKMREKRNLLETRLNVSDTVTLPTAPNMNSEPTLQPQTGEITNRMMDLTLNSSTATPVSPGSVTKETTTVIVTTTKSL
PSDQVMLVYDQQEVEAIFLVILVVVIIGEFFSASSVTIVDTVTLQYLGKHRDRYGLQRMWGSLGWGLAMLSVGIGIDYTHIEVLIDGKGC
KPPEYRNYQIVFIVFGVLMTMALIVATQFRFRYNHFKNDDSKGKEVEIPQVERNNSTESSEETPTTTSHSQAFNFWDLIKLLCSVQYGSV
LFVAWFMGFGYGFVFTFLYWHLEDLNGTTTLFGVCSVLSHVSELTAYFFSHKLIELIGHIRVLYIGLACNTARYIYISYLENAWTVLPME
VLQGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDIIYRMKHQFGNE

--------------------------------------------------------------
>53288_53288_7_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000535751_PMS1_chr2_190738222_ENST00000409823_length(transcript)=558nt_BP=232nt
GAAAAGGCTGAGGGCAGATATGTTAGAAGCCATCTTCTTATTCCTAAATTCATGCTTAAATGTAATTGTCCTTCAGTTTTCCCACTCCTG
AGTTTGGAGTCTGCTGGATGATGGGTGGTTTGGGGAAGGAAAAGGGTTCTGTACATTGGCCTGGCCTGCAATACGGCTCGCTATATTTAT
ATTTCCTACCTGGAGAATGCCTGGACTGTTCTCCCCATGGAAGTTCTTCAAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGA
ATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAA
TGTAGACCTCGCAAAGTGATAAGTTATTTAGAGGGAGAAGCAGTGCGTCTATCCAGACAATTACCCATGTACTTATCAAAAGAGGACATC
CAAGACATTATCTACAGAATGAAGCACCAGTTTGGAAATGAAATTAAAGAGTGTGTTCATGGTCGCCCATTTTTTCATCATTTAACCTAT

>53288_53288_7_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000535751_PMS1_chr2_190738222_ENST00000409823_length(amino acids)=139AA_BP=29
MYIGLACNTARYIYISYLENAWTVLPMEVLQGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVR

--------------------------------------------------------------
>53288_53288_8_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000535751_PMS1_chr2_190738222_ENST00000418224_length(transcript)=749nt_BP=232nt
GAAAAGGCTGAGGGCAGATATGTTAGAAGCCATCTTCTTATTCCTAAATTCATGCTTAAATGTAATTGTCCTTCAGTTTTCCCACTCCTG
AGTTTGGAGTCTGCTGGATGATGGGTGGTTTGGGGAAGGAAAAGGGTTCTGTACATTGGCCTGGCCTGCAATACGGCTCGCTATATTTAT
ATTTCCTACCTGGAGAATGCCTGGACTGTTCTCCCCATGGAAGTTCTTCAAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGA
ATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAA
TGTAGACCTCGCAAAGTGATAAGTTATTTAGAGGGAGAAGCAGTGCGTCTATCCAGACAATTACCCATGTACTTATCAAAAGAGGACATC
CAAGACATTATCTACAGAATGAAGCACCAGTTTGGAAATGAAATTAAAGAGTGTGTTCATGGTCGCCCATTTTTTCATCATTTAACCTAT
CTTCCAGAAACTACATGATTAAATATGTTTAAGAAGATTAGTTACCATTGAAATTGGTTCTGTCATAAAACAGCATGAGTCTGGTTTTAA
ATTATCTTTGTATTATGTGTCACATGGTTATTTTTTAAATGAGGATTCACTGACTTGTTTTTATATTGAAAAAAGTTCCACGTATTGTAG

>53288_53288_8_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000535751_PMS1_chr2_190738222_ENST00000418224_length(amino acids)=139AA_BP=29
MYIGLACNTARYIYISYLENAWTVLPMEVLQGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVR

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>53288_53288_9_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000535751_PMS1_chr2_190738222_ENST00000441310_length(transcript)=751nt_BP=232nt
GAAAAGGCTGAGGGCAGATATGTTAGAAGCCATCTTCTTATTCCTAAATTCATGCTTAAATGTAATTGTCCTTCAGTTTTCCCACTCCTG
AGTTTGGAGTCTGCTGGATGATGGGTGGTTTGGGGAAGGAAAAGGGTTCTGTACATTGGCCTGGCCTGCAATACGGCTCGCTATATTTAT
ATTTCCTACCTGGAGAATGCCTGGACTGTTCTCCCCATGGAAGTTCTTCAAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGA
ATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAA
TGTAGACCTCGCAAAGTGATAAGTTATTTAGAGGGAGAAGCAGTGCGTCTATCCAGACAATTACCCATGTACTTATCAAAAGAGGACATC
CAAGACATTATCTACAGAATGAAGCACCAGTTTGGAAATGAAATTAAAGAGTGTGTTCATGGTCGCCCATTTTTTCATCATTTAACCTAT
CTTCCAGAAACTACATGATTAAATATGTTTAAGAAGATTAGTTACCATTGAAATTGGTTCTGTCATAAAACAGCATGAGTCTGGTTTTAA
ATTATCTTTGTATTATGTGTCACATGGTTATTTTTTAAATGAGGATTCACTGACTTGTTTTTATATTGAAAAAAGTTCCACGTATTGTAG

>53288_53288_9_MFSD6-PMS1_MFSD6_chr2_191334581_ENST00000535751_PMS1_chr2_190738222_ENST00000441310_length(amino acids)=139AA_BP=29
MYIGLACNTARYIYISYLENAWTVLPMEVLQGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVR

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Fusion Gene PPI Analysis for MFSD6-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

- 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 MFSD6-PMS1

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 MFSD6-PMS1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source