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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:RFC1-SMIM14 (FusionGDB2 ID:73620)

Fusion Gene Summary for RFC1-SMIM14

Fusion gene summary

Fusion gene information	Fusion gene name: RFC1-SMIM14
	Fusion gene ID: 73620
		Hgene	Tgene
	Gene symbol	RFC1	SMIM14
	Gene ID	6573	201895
	Gene name	solute carrier family 19 member 1	small integral membrane protein 14
	Synonyms	CHMD\|FOLT\|IFC-1\|IFC1\|REFC\|RFC\|RFC1\|RFT-1\|hRFC\|hSLC19A1	C4orf34
	Cytomap	21q22.3	4p14
	Type of gene	protein-coding	protein-coding
	Description	reduced folate transporterfolate transporter 1intestinal folate carrier 1placental folate transporterreduced folate carrier 1reduced folate carrier proteinreduced folate transporter 1solute carrier family 19 (folate transporter), member 1	small integral membrane protein 14
	Modification date	20200313	20200313
	UniProtAcc	.	Q96QK8
	Ensembl transtripts involved in fusion gene	ENST00000349703, ENST00000381897, ENST00000418436,	ENST00000510628, ENST00000295958, ENST00000511809,
Fusion gene scores	* DoF score	8 X 7 X 6=336	12 X 7 X 8=672
	# samples	9	13
	** MAII score	log2(9/336*10)=-1.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(13/672*10)=-2.36994960975031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: RFC1 [Title/Abstract] AND SMIM14 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	RFC1(39367859)-SMIM14(39574083), # samples:2 SMIM14(39640359)-RFC1(39314551), # samples:2
Anticipated loss of major functional domain due to fusion event.

* 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	RFC1	GO:0051958	methotrexate transport	22554803
Hgene	RFC1	GO:0098838	folate transmembrane transport	22554803
Hgene	RFC1	GO:1904447	folate import across plasma membrane	14609557\|22554803

Fusion gene breakpoints across RFC1 (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 SMIM14 (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	UVM	TCGA-V4-A9EX-01A	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-
ChimerDB4	UVM	TCGA-V4-A9EX	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-

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Fusion Gene ORF analysis for RFC1-SMIM14

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-5UTR	ENST00000349703	ENST00000510628	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-
5CDS-5UTR	ENST00000381897	ENST00000510628	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-
5UTR-3CDS	ENST00000418436	ENST00000295958	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-
5UTR-3CDS	ENST00000418436	ENST00000511809	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-
5UTR-5UTR	ENST00000418436	ENST00000510628	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-
In-frame	ENST00000349703	ENST00000295958	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-
In-frame	ENST00000349703	ENST00000511809	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-
In-frame	ENST00000381897	ENST00000295958	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-
In-frame	ENST00000381897	ENST00000511809	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-

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)
ENST00000349703	RFC1	chr4	39367859	-	ENST00000295958	SMIM14	chr4	39574083	-	6134	113	2138	1833	101
ENST00000349703	RFC1	chr4	39367859	-	ENST00000511809	SMIM14	chr4	39574083	-	678	113	326	0	109
ENST00000381897	RFC1	chr4	39367859	-	ENST00000295958	SMIM14	chr4	39574083	-	6158	137	2162	1857	101
ENST00000381897	RFC1	chr4	39367859	-	ENST00000511809	SMIM14	chr4	39574083	-	702	137	350	0	117

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
ENST00000349703	ENST00000295958	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-	0.5627799	0.43722007
ENST00000349703	ENST00000511809	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-	0.584594	0.415406
ENST00000381897	ENST00000295958	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-	0.5666482	0.4333518
ENST00000381897	ENST00000511809	RFC1	chr4	39367859	-	SMIM14	chr4	39574083	-	0.5705276	0.42947236

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Fusion Genomic Features for RFC1-SMIM14

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 RFC1-SMIM14

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr4:39367859/chr4:39574083)
- 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
.	SMIM14 Q96QK8
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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

Tgene

SMIM14

chr4:39367859

chr4:39574083

ENST00000295958

71_99

100.0

Topological domain

Cytoplasmic

Tgene

SMIM14

chr4:39367859

chr4:39574083

ENST00000295958

50_70

100.0

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

RFC1

chr4:39367859

chr4:39574083

ENST00000349703

402_492

1148.0

Domain

BRCT

Hgene

RFC1

chr4:39367859

chr4:39574083

ENST00000381897

402_492

1149.0

Domain

BRCT

Hgene

RFC1

chr4:39367859

chr4:39574083

ENST00000349703

1120_1124

1148.0

Motif

Nuclear localization signal

Hgene

RFC1

chr4:39367859

chr4:39574083

ENST00000381897

1120_1124

1149.0

Motif

Nuclear localization signal

Hgene

RFC1

chr4:39367859

chr4:39574083

ENST00000349703

650_657

1148.0

Nucleotide binding

ATP

Hgene

RFC1

chr4:39367859

chr4:39574083

ENST00000381897

650_657

1149.0

Nucleotide binding

ATP

Tgene

SMIM14

chr4:39367859

chr4:39574083

ENST00000295958

1_49

100.0

Topological domain

Lumenal

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Fusion Gene Sequence for RFC1-SMIM14

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.

>73620_73620_1_RFC1-SMIM14_RFC1_chr4_39367859_ENST00000349703_SMIM14_chr4_39574083_ENST00000295958_length(transcript)=6134nt_BP=113nt
CTTGCACTTCGCGGGAGAAGTTGTTGGCGCGAATGGATCCTGAGCCTCGATAACAGATTCCTCAACCGGCCCACCCGCCAGCCAGCCAGC
GCCTTCATCCTGGGGCTGCGATGTTACGGCAGTCCCAGTCCTACTGCACAGACACAGAGTGTCTTCAGGAATTACCGGGACCCTCTGGTG
ATAATGGCATCAGTGTTACAATGATCTTGGTAGCCTGGATGGTTATTGCATTGATCTTGTTCTTACTGAGACCTCCTAATCTAAGAGGAT
CCAGCCTACCTGGAAAGCCAACCAGTCCTCATAATGGACAAGATCCACCAGCTCCTCCTGTGGACTAACTTTGTGATATGGGAAGTGAAA
ATAGTTAACACCTTGCACGACCAAACGAACGAAGATGACCAGAGTACTCTTAACCCCATTAGAACTGTTTTTCCTTTTGTATCTGCAATA
TGGGATGGTATTGTTTTCATGAGCTTCTAGAAATTTCACTTGCAAGTTTATTTTTGCTTCCTGTGTTACTGCCATTCCTATTTACAGTAT
ATTTGAGTGAATGATTATATTTTTAAAAAGTTACATGGGGCTTTTTTGGTTGTCCTAAACTTACAAACATTCCACTCATTCTGTTTGTAA
CTGTGATTATAATTTTTGTGATAATTTCTGGCCTGATTGAAGGAAATTTGAGAGGTCTGCATTTATATATTTTAAATAGATTTGATAGGT
TTTTAAATTGCTTTTTTTCATAAGGTATTTATAAAGTTATTTGGGGTTGTCTGGGATTGTGTGAAAGAAAATTAGAACCACGCTGTATTT
ACATTTACCTTGGTAGTTTATTTGTGGATGGCAGTTTTCTGTAGTTTTGGGGACTGTGGTAGCTCTTGGATTGTTTTGCAAATTACAGCT
GAAATCTGTGTCATGGATTAAACTGGCTTATGTGGCTAGAATAGGAAGAGAGAAAAAATGAAATGGTTGTTTACTAATTTTATACTCCCA
TTAAAAATCTCTAATGTTAAGAAAACCTTAAATAAACATGATTGATCAATATGGCAGATGATTTACAGTCCATTATATGACATTTGTAAG
CCACTCAACACTAGCCTTACAAGGTTCATGAAAGGAGGAAAACATTAATTCTTTCTGCCTTTGCTGATATAATCCACATAGTAATAATTT
AAGCTATAATTTATTTTTAAAATGAGTGCCTCTTGGGAAGCTTCTTTTCTGTTCTAACAGTTCCCTGTTAAAATGAAAATCTTAGGCCAG
TGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAA
CATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAAATTAGCCAGGGTTGGTGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCCAAA
GCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAACCAAGATCGCACCACTGCATTCCAGCCTAAGCAATAGAGCGAGACTC
CCTCTCAAAAAAAAAAAAAGAAGAAAATCTTAAAGCTGTATTAGGGCCTGTTAGGTTACTGATATTTGAATGCCTATTTACTTATTTACT
ACATTGAGTCTTTTGTTATCCTCTGACCTATAAAATATTTTAATAAATTACTGGTTTACTTCAAGGGAAAAGAAGGAAAATGAGAAACAT
ACATCTTTTTTTCACTCCTTATCTCATTCCTGTTTGGTGATGGGATGGATTGGGGTAGGAAGGAATGTTAATATGAGAGAAATTTTAAAA
TGTATAAAAAAGTAAAAGGTTGTATTGTTTTGCTCAGTTTGAAATAAAGTGAATACCAATAGCACTTAAAAATGTCTGCATGGGCTGGGC
ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAAC
ATGGTGAAACCTTATCTCTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGTGTGCCTATAATCCCAGCTACTGGGGAAGCTGAGGC
AGGAAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTAAGCTGAGATCGTGCCACTGCACTCCAATCAGGGCGACAGAGCGAGACTCTGT
CTCAAAATAAATAAATAAATAAAAATGTCTGCATGACCCATATGGTTATGAAGTTTTTTTCCTAGCAAATGATTGCAGATTATTTATGGG
GGCTAGAAGATATTTTGCTATCAATGTAAGGATTTTTTTCCCCTTAGGTCAGTCTATTCACTGTTTAGATCTGGTAAATTACTTGTATGA
ATTGAATAAATTCTCTGTATCATTGTACTGTTTAATAGTCTCTGATACAATTGTGATACTCATAAGGTATTTTCCCCCCTTTATTATGAT
TACATTCTAGATCATAAACATTGTAAGGGCATCTTTTCATTATATAATCCAATATTGATTGTTTGAATTCCTCCTTGTACATCCTGGCTT
TGTGCTCAATTTCTTGAAATAATATAACCAACTCTAAATTACTTGTGTTAATAGATCGGTAACATGACACAGGTAAGTTAAATCCTGGAT
AAATGAGCCCCACAGAATAAAGGTTTTTCCTCTTGCTGTGGCCTACTGGAAGCCTTCCTAACTCTATAGCTGGTAAAGTAGAGCAGAAAG
GGCCAGAATGGCTTAAGATGGAGCTAAATCCCTATAGCATTCCATTTTCTGCTCTTGCCTCTTGAACTTAGAAGGCTTGCCCATATATCC
TAACAATCTGTTCTCTGAGCTGTTAGGCCAATCCCTGGCAAGAGATATTGATGTAGTCACTGAATCTATGGCTCACAAATAATTGAAAAT
TGGCTTTGGGAGCTGGGCGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCACTTGAGGTCAGGAGGTT
GAGACCAGCCTGGCCAAGACGGTGAAACCCCGTGCCTACAAAAAATTAGCCGGGTTTGGTGACACGGCCTGTAGTCTTAGCTACTCGGGA
GGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGACAGGTTGCAGTAAGCCAAGATCACGCCACTGCACTCCAGCTTGAGTGACAGAGTGA
GACCCTGTCTCAAAAAAAAAAGGCTTTAGAAGGCTTTATTGGATGAAATGGCTGAAACTTGGATACAGAATGTCTAGTATTAGACACCTA
AAAATCTGGATTCTTTTTGGTTGTTGTTTTGAGATGGAGTTTTGCTCTTTCGCCCAAGCTGGAGTGAAGTGGCGCGACCTTGGCTCACTG
CAACATCCACCCCCAGGTTCGAGCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGCCCACCACCACGCCCAGCTAATT
TTTGTATCTTTAGTAGAGATGGGGTTTCGCCATGTAGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACTATGGCCTCC
CAAAGTGCTAGGATTACAGATGTGAGCCACCGTGCCTGGCCAGAAAATCTGGATTCTTATTCCTAGTTCTTCATTTCTGTCACATGCACT
TAGTTGACATTACATCTACATATATTAGCTTTTTCCTACATGAGCCATCTATTTACTTAGTAACCAGTGTTCTTAATGAAGTATTTAGTC
TTGGGTTTCTTGTAAAATTTCTCTGCATTCCTTAGACAGTGTACTATACATGAAATATTCTTGTTGACCTAGTAATTTATATTATTCCAT
TTAATTCTTAAACCTATGGCCTTTTTATTGAGCACACTCTTAAATCATTATTTGGCTTGTAAACATTCATCTGAAGTGTGGCTACAATCC
TCTTTAAATAATCTAGGAAAAAAGAAAGATAAAGCTTACATTTTCACAGTTTTGGCTCTTAAACACATTCCACAAATGCCATTAAGAATT
TATTTTGTTTTAGGCCAGTCATGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCTGAGGCAAGAACTGCTTGAGCCCAGGAGTTT
GAGACTAGCCTGGGCAACATAGCAAGACCCTGTCTCTACCAAAAAAAAAAAAGTTTATTTTGTTTTAGAGTCATTTAATGTGTTTTTATG
CACAATAATAGTGGGAGGTTGTTTTGTTGCATTTGTTTGTTTGTTTTGTTTTGTTTTGTTTTGCTTTCCATGTGGGAAAAGTTAACATTG
GAACTGTTTCTAGTAAAAGATTTTTTTCAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGACCGAGGGAGCTGGAT
CACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAAAAACTCCATCTCCACTAAAAATACAAAAGTAGCCTGGTGTGGTGGCA
CATGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCC
ATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGATGTTTTTCATTTTTTTCATGTTATCTATCC
AAGCACTGTTCCATGGTCAGCAAGTCATATTTCATAATGTGGATTTTCCAAAATAATTATTGAATACAGCTATTCTATGGCTACTTTTAG
TGTTTTTGTGGTATGTGGTGTGGGAGTGTTTATGGAATTACCAGTATCTTAAATTTTCAAAGGAACCTTGGAAGTCTATCACTCTAAATG
AAAGTCTGTCACTCTACATGAATTATGTGCTCAAATTTGACCAACTCAGTTTAAGACACAAAACAGTAATTTGAAGAAGGAAAAATGAAG
AGAGTTTCTAGTTTAATGGGTTAAATTTTTGTTGTTGCAATAGTAAGTTTAGTCTTCTTATAATATTTCTAAATGAAAAATCATAGGTAT
TTGTTACCATGTGTGAAGATTAGTTTGTTAAAAGCAAAAGTGGTCGTGTGATATGCTAAATGTTAATTACTGATTTTATATGTTTAAATC
ACGCCAAACAAATTATGTCTGTGCCATCCAGGGTCTGTTGTTAATCTTTTTCTGAGTACTTGGATTGGGATAAAGGGCTTGTACTATGCA
CTTTTTATTAATGAATAAATAGAAAACGTTAGTAACACTTTGTGTTTTCTGTTTGGCTTTTGTGGGAAGAGAAGCAAGCATCTTTTGCCT
AGTAGATGTTAACATTGTGTATTAAACAGTTTCTTTGTAAGACCTAACTAAAGACATTCCTAAGAGAGAACTTAAGTTTTAAGAAAAGTT
GTGAGAAAAATATTCATAAAATATGCAGTATGGGGCCAGTATTCAGAAGTAGAGTTTCTCTCTTGGAAATTAGATTGCAGTCACATTTCT
TTGGTTATTTTCTTTCTCTCTCTCTTCCTAGAATACCAGGTAAAATAGACATTTACTTTGAGGGACTAATATCCAATAGTGTTAATTATT
TAAGCAGATATATCTAGCTCAAAAGGAACCAGACATGTCACTGTACCAAAAACACACAAAAGTGAAAATTTGCTTCTGTTCTGTGACCTA
GAATGTGTCCAGACATTAAAGGTCATGAATACTCATATACATGTAAAAATAGTAACACTGCTCTGGCATGATTTTGACGTCAGTGTTTAT
GTAATAACTTCAGTGTTATATTTAAAATAGATAAATTTGTGAAATAACAATTTCTTGGAGACAGTCAACTTTTTATGATTTAATCTAAAG
ATTGTCATGTACATGTCAACGGATATCTGAATCCTCAGTGAAACTGTTAAGTTTTCATTAAATGACTCTGCTGCAATACTAGTTTTCTTC
TCAGAAAATGGAATTCAAATAAAATAAGTTTTTTGGTCTTGGCATTTCACCTGATGACTTTCTCTGTTCTGGATCTCAATTTGTAGAGTT
GTTGGGGGTTCCCCCCCCTCCAAAAGATGCTCCATAAACACCAACTACAATTATCTTTCATGATCATATTTTTAAAAATTGGAGTTACCT
GTGTGATCTTTTCCCATTAGTTGCTTGTAGGGGACTTTAGTGTGCGTATCTCTTCTCAGACAAATGTATTATGTTCGTTCAATAAACACT

>73620_73620_1_RFC1-SMIM14_RFC1_chr4_39367859_ENST00000349703_SMIM14_chr4_39574083_ENST00000295958_length(amino acids)=101AA_BP=2
MIGVQWHDLSLLQPPSPRFKQFPASASPVAGIIGTHHHAWLIFAFLVEIRFHHVGQAGLELLTSGDSPASASQSAGITGVSHRAQPMQTF

--------------------------------------------------------------
>73620_73620_2_RFC1-SMIM14_RFC1_chr4_39367859_ENST00000349703_SMIM14_chr4_39574083_ENST00000511809_length(transcript)=678nt_BP=113nt
CTTGCACTTCGCGGGAGAAGTTGTTGGCGCGAATGGATCCTGAGCCTCGATAACAGATTCCTCAACCGGCCCACCCGCCAGCCAGCCAGC
GCCTTCATCCTGGGGCTGCGATGTTACGGCAGTCCCAGTCCTACTGCACAGACACAGAGTGTCTTCAGGAATGGACAAGATCCACCAGCT
CCTCCTGTGGACTAACTTTGTGATATGGGAAGTGAAAATAGTTAACACCTTGCACGACCAAACGAACGAAGATGACCAGAGTACTCTTAA
CCCCATTAGAACTGTTTTTCCTTTTGTATCTGCAATATGGGATGGTATTGTTTTCATGAGCTTCTAGAAATTTCACTTGCAAGTTTATTT
TTGCTTCCTGTGTTACTGCCATTCCTATTTACAGTATATTTGAGTGAATGATTATATTTTTAAAAAGTTACATGGGGCTTTTTTGGTTGT
CCTAAACTTACAAACATTCCACTCATTCTGTTTGTAACTGTGATTATAATTTTTGTGATAATTTCTGGCCTGATTGAAGGAAATTTGAGA
GGTCTGCATTTATATATTTTAAATAGATTTGATAGGTTTTTAAATTGCTTTTTTTCATAAGGTATTTATAAAGTTATTTGGGGTTGTCTG

>73620_73620_2_RFC1-SMIM14_RFC1_chr4_39367859_ENST00000349703_SMIM14_chr4_39574083_ENST00000511809_length(amino acids)=109AA_BP=0
MKTIPSHIADTKGKTVLMGLRVLWSSSFVWSCKVLTIFTSHITKLVHRRSWWILSIPEDTLCLCSRTGTAVTSQPQDEGAGWLAGGPVEE

--------------------------------------------------------------
>73620_73620_3_RFC1-SMIM14_RFC1_chr4_39367859_ENST00000381897_SMIM14_chr4_39574083_ENST00000295958_length(transcript)=6158nt_BP=137nt
ACCGCGCGCCACTGTCTTCGCCTTCTTGCACTTCGCGGGAGAAGTTGTTGGCGCGAATGGATCCTGAGCCTCGATAACAGATTCCTCAAC
CGGCCCACCCGCCAGCCAGCCAGCGCCTTCATCCTGGGGCTGCGATGTTACGGCAGTCCCAGTCCTACTGCACAGACACAGAGTGTCTTC
AGGAATTACCGGGACCCTCTGGTGATAATGGCATCAGTGTTACAATGATCTTGGTAGCCTGGATGGTTATTGCATTGATCTTGTTCTTAC
TGAGACCTCCTAATCTAAGAGGATCCAGCCTACCTGGAAAGCCAACCAGTCCTCATAATGGACAAGATCCACCAGCTCCTCCTGTGGACT
AACTTTGTGATATGGGAAGTGAAAATAGTTAACACCTTGCACGACCAAACGAACGAAGATGACCAGAGTACTCTTAACCCCATTAGAACT
GTTTTTCCTTTTGTATCTGCAATATGGGATGGTATTGTTTTCATGAGCTTCTAGAAATTTCACTTGCAAGTTTATTTTTGCTTCCTGTGT
TACTGCCATTCCTATTTACAGTATATTTGAGTGAATGATTATATTTTTAAAAAGTTACATGGGGCTTTTTTGGTTGTCCTAAACTTACAA
ACATTCCACTCATTCTGTTTGTAACTGTGATTATAATTTTTGTGATAATTTCTGGCCTGATTGAAGGAAATTTGAGAGGTCTGCATTTAT
ATATTTTAAATAGATTTGATAGGTTTTTAAATTGCTTTTTTTCATAAGGTATTTATAAAGTTATTTGGGGTTGTCTGGGATTGTGTGAAA
GAAAATTAGAACCACGCTGTATTTACATTTACCTTGGTAGTTTATTTGTGGATGGCAGTTTTCTGTAGTTTTGGGGACTGTGGTAGCTCT
TGGATTGTTTTGCAAATTACAGCTGAAATCTGTGTCATGGATTAAACTGGCTTATGTGGCTAGAATAGGAAGAGAGAAAAAATGAAATGG
TTGTTTACTAATTTTATACTCCCATTAAAAATCTCTAATGTTAAGAAAACCTTAAATAAACATGATTGATCAATATGGCAGATGATTTAC
AGTCCATTATATGACATTTGTAAGCCACTCAACACTAGCCTTACAAGGTTCATGAAAGGAGGAAAACATTAATTCTTTCTGCCTTTGCTG
ATATAATCCACATAGTAATAATTTAAGCTATAATTTATTTTTAAAATGAGTGCCTCTTGGGAAGCTTCTTTTCTGTTCTAACAGTTCCCT
GTTAAAATGAAAATCTTAGGCCAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCA
GGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAAATTAGCCAGGGTTGGTGCATGTGCCTGTA
ATCCCAGCTACTCAGGAGGCCAAAGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAACCAAGATCGCACCACTGCATTCC
AGCCTAAGCAATAGAGCGAGACTCCCTCTCAAAAAAAAAAAAAGAAGAAAATCTTAAAGCTGTATTAGGGCCTGTTAGGTTACTGATATT
TGAATGCCTATTTACTTATTTACTACATTGAGTCTTTTGTTATCCTCTGACCTATAAAATATTTTAATAAATTACTGGTTTACTTCAAGG
GAAAAGAAGGAAAATGAGAAACATACATCTTTTTTTCACTCCTTATCTCATTCCTGTTTGGTGATGGGATGGATTGGGGTAGGAAGGAAT
GTTAATATGAGAGAAATTTTAAAATGTATAAAAAAGTAAAAGGTTGTATTGTTTTGCTCAGTTTGAAATAAAGTGAATACCAATAGCACT
TAAAAATGTCTGCATGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATCACCTGAGGTCAG
GAGTTCGAGACCAGCCTGACCAACATGGTGAAACCTTATCTCTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGTGTGCCTATAAT
CCCAGCTACTGGGGAAGCTGAGGCAGGAAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTAAGCTGAGATCGTGCCACTGCACTCCAAT
CAGGGCGACAGAGCGAGACTCTGTCTCAAAATAAATAAATAAATAAAAATGTCTGCATGACCCATATGGTTATGAAGTTTTTTTCCTAGC
AAATGATTGCAGATTATTTATGGGGGCTAGAAGATATTTTGCTATCAATGTAAGGATTTTTTTCCCCTTAGGTCAGTCTATTCACTGTTT
AGATCTGGTAAATTACTTGTATGAATTGAATAAATTCTCTGTATCATTGTACTGTTTAATAGTCTCTGATACAATTGTGATACTCATAAG
GTATTTTCCCCCCTTTATTATGATTACATTCTAGATCATAAACATTGTAAGGGCATCTTTTCATTATATAATCCAATATTGATTGTTTGA
ATTCCTCCTTGTACATCCTGGCTTTGTGCTCAATTTCTTGAAATAATATAACCAACTCTAAATTACTTGTGTTAATAGATCGGTAACATG
ACACAGGTAAGTTAAATCCTGGATAAATGAGCCCCACAGAATAAAGGTTTTTCCTCTTGCTGTGGCCTACTGGAAGCCTTCCTAACTCTA
TAGCTGGTAAAGTAGAGCAGAAAGGGCCAGAATGGCTTAAGATGGAGCTAAATCCCTATAGCATTCCATTTTCTGCTCTTGCCTCTTGAA
CTTAGAAGGCTTGCCCATATATCCTAACAATCTGTTCTCTGAGCTGTTAGGCCAATCCCTGGCAAGAGATATTGATGTAGTCACTGAATC
TATGGCTCACAAATAATTGAAAATTGGCTTTGGGAGCTGGGCGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGG
TGGATCACTTGAGGTCAGGAGGTTGAGACCAGCCTGGCCAAGACGGTGAAACCCCGTGCCTACAAAAAATTAGCCGGGTTTGGTGACACG
GCCTGTAGTCTTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGACAGGTTGCAGTAAGCCAAGATCACGCCACTGC
ACTCCAGCTTGAGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGGCTTTAGAAGGCTTTATTGGATGAAATGGCTGAAACTTGGATAC
AGAATGTCTAGTATTAGACACCTAAAAATCTGGATTCTTTTTGGTTGTTGTTTTGAGATGGAGTTTTGCTCTTTCGCCCAAGCTGGAGTG
AAGTGGCGCGACCTTGGCTCACTGCAACATCCACCCCCAGGTTCGAGCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTATAAGT
GCCCACCACCACGCCCAGCTAATTTTTGTATCTTTAGTAGAGATGGGGTTTCGCCATGTAGGCCAGGCTGGTCTCAAACTCCTGACCTCA
GGTGATCCACCCACTATGGCCTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCGTGCCTGGCCAGAAAATCTGGATTCTTATTCCTAG
TTCTTCATTTCTGTCACATGCACTTAGTTGACATTACATCTACATATATTAGCTTTTTCCTACATGAGCCATCTATTTACTTAGTAACCA
GTGTTCTTAATGAAGTATTTAGTCTTGGGTTTCTTGTAAAATTTCTCTGCATTCCTTAGACAGTGTACTATACATGAAATATTCTTGTTG
ACCTAGTAATTTATATTATTCCATTTAATTCTTAAACCTATGGCCTTTTTATTGAGCACACTCTTAAATCATTATTTGGCTTGTAAACAT
TCATCTGAAGTGTGGCTACAATCCTCTTTAAATAATCTAGGAAAAAAGAAAGATAAAGCTTACATTTTCACAGTTTTGGCTCTTAAACAC
ATTCCACAAATGCCATTAAGAATTTATTTTGTTTTAGGCCAGTCATGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCTGAGGCA
AGAACTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCAACATAGCAAGACCCTGTCTCTACCAAAAAAAAAAAAGTTTATTTTGTTTT
AGAGTCATTTAATGTGTTTTTATGCACAATAATAGTGGGAGGTTGTTTTGTTGCATTTGTTTGTTTGTTTTGTTTTGTTTTGTTTTGCTT
TCCATGTGGGAAAAGTTAACATTGGAACTGTTTCTAGTAAAAGATTTTTTTCAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAACAC
TTTGGGAGACCGAGGGAGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAAAAACTCCATCTCCACTAAAAATA
CAAAAGTAGCCTGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAG
GTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGATGTTTT
TCATTTTTTTCATGTTATCTATCCAAGCACTGTTCCATGGTCAGCAAGTCATATTTCATAATGTGGATTTTCCAAAATAATTATTGAATA
CAGCTATTCTATGGCTACTTTTAGTGTTTTTGTGGTATGTGGTGTGGGAGTGTTTATGGAATTACCAGTATCTTAAATTTTCAAAGGAAC
CTTGGAAGTCTATCACTCTAAATGAAAGTCTGTCACTCTACATGAATTATGTGCTCAAATTTGACCAACTCAGTTTAAGACACAAAACAG
TAATTTGAAGAAGGAAAAATGAAGAGAGTTTCTAGTTTAATGGGTTAAATTTTTGTTGTTGCAATAGTAAGTTTAGTCTTCTTATAATAT
TTCTAAATGAAAAATCATAGGTATTTGTTACCATGTGTGAAGATTAGTTTGTTAAAAGCAAAAGTGGTCGTGTGATATGCTAAATGTTAA
TTACTGATTTTATATGTTTAAATCACGCCAAACAAATTATGTCTGTGCCATCCAGGGTCTGTTGTTAATCTTTTTCTGAGTACTTGGATT
GGGATAAAGGGCTTGTACTATGCACTTTTTATTAATGAATAAATAGAAAACGTTAGTAACACTTTGTGTTTTCTGTTTGGCTTTTGTGGG
AAGAGAAGCAAGCATCTTTTGCCTAGTAGATGTTAACATTGTGTATTAAACAGTTTCTTTGTAAGACCTAACTAAAGACATTCCTAAGAG
AGAACTTAAGTTTTAAGAAAAGTTGTGAGAAAAATATTCATAAAATATGCAGTATGGGGCCAGTATTCAGAAGTAGAGTTTCTCTCTTGG
AAATTAGATTGCAGTCACATTTCTTTGGTTATTTTCTTTCTCTCTCTCTTCCTAGAATACCAGGTAAAATAGACATTTACTTTGAGGGAC
TAATATCCAATAGTGTTAATTATTTAAGCAGATATATCTAGCTCAAAAGGAACCAGACATGTCACTGTACCAAAAACACACAAAAGTGAA
AATTTGCTTCTGTTCTGTGACCTAGAATGTGTCCAGACATTAAAGGTCATGAATACTCATATACATGTAAAAATAGTAACACTGCTCTGG
CATGATTTTGACGTCAGTGTTTATGTAATAACTTCAGTGTTATATTTAAAATAGATAAATTTGTGAAATAACAATTTCTTGGAGACAGTC
AACTTTTTATGATTTAATCTAAAGATTGTCATGTACATGTCAACGGATATCTGAATCCTCAGTGAAACTGTTAAGTTTTCATTAAATGAC
TCTGCTGCAATACTAGTTTTCTTCTCAGAAAATGGAATTCAAATAAAATAAGTTTTTTGGTCTTGGCATTTCACCTGATGACTTTCTCTG
TTCTGGATCTCAATTTGTAGAGTTGTTGGGGGTTCCCCCCCCTCCAAAAGATGCTCCATAAACACCAACTACAATTATCTTTCATGATCA
TATTTTTAAAAATTGGAGTTACCTGTGTGATCTTTTCCCATTAGTTGCTTGTAGGGGACTTTAGTGTGCGTATCTCTTCTCAGACAAATG

>73620_73620_3_RFC1-SMIM14_RFC1_chr4_39367859_ENST00000381897_SMIM14_chr4_39574083_ENST00000295958_length(amino acids)=101AA_BP=2
MIGVQWHDLSLLQPPSPRFKQFPASASPVAGIIGTHHHAWLIFAFLVEIRFHHVGQAGLELLTSGDSPASASQSAGITGVSHRAQPMQTF

--------------------------------------------------------------
>73620_73620_4_RFC1-SMIM14_RFC1_chr4_39367859_ENST00000381897_SMIM14_chr4_39574083_ENST00000511809_length(transcript)=702nt_BP=137nt
ACCGCGCGCCACTGTCTTCGCCTTCTTGCACTTCGCGGGAGAAGTTGTTGGCGCGAATGGATCCTGAGCCTCGATAACAGATTCCTCAAC
CGGCCCACCCGCCAGCCAGCCAGCGCCTTCATCCTGGGGCTGCGATGTTACGGCAGTCCCAGTCCTACTGCACAGACACAGAGTGTCTTC
AGGAATGGACAAGATCCACCAGCTCCTCCTGTGGACTAACTTTGTGATATGGGAAGTGAAAATAGTTAACACCTTGCACGACCAAACGAA
CGAAGATGACCAGAGTACTCTTAACCCCATTAGAACTGTTTTTCCTTTTGTATCTGCAATATGGGATGGTATTGTTTTCATGAGCTTCTA
GAAATTTCACTTGCAAGTTTATTTTTGCTTCCTGTGTTACTGCCATTCCTATTTACAGTATATTTGAGTGAATGATTATATTTTTAAAAA
GTTACATGGGGCTTTTTTGGTTGTCCTAAACTTACAAACATTCCACTCATTCTGTTTGTAACTGTGATTATAATTTTTGTGATAATTTCT
GGCCTGATTGAAGGAAATTTGAGAGGTCTGCATTTATATATTTTAAATAGATTTGATAGGTTTTTAAATTGCTTTTTTTCATAAGGTATT

>73620_73620_4_RFC1-SMIM14_RFC1_chr4_39367859_ENST00000381897_SMIM14_chr4_39574083_ENST00000511809_length(amino acids)=117AA_BP=0
MKTIPSHIADTKGKTVLMGLRVLWSSSFVWSCKVLTIFTSHITKLVHRRSWWILSIPEDTLCLCSRTGTAVTSQPQDEGAGWLAGGPVEE

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for RFC1-SMIM14

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

Related Drugs for RFC1-SMIM14

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

Top

Related Diseases for RFC1-SMIM14

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source