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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:FAM117B-ATIC (FusionGDB2 ID:28373)

Fusion Gene Summary for FAM117B-ATIC

Fusion gene summary

Fusion gene information	Fusion gene name: FAM117B-ATIC
	Fusion gene ID: 28373
		Hgene	Tgene
	Gene symbol	FAM117B	ATIC
	Gene ID	150864	471
	Gene name	family with sequence similarity 117 member B	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
	Synonyms	ALS2CR13	AICAR\|AICARFT\|HEL-S-70p\|IMPCHASE\|PURH
	Cytomap	2q33.2	2q35
	Type of gene	protein-coding	protein-coding
	Description	protein FAM117Bamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein	bifunctional purine biosynthesis protein PURH5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicaseAICAR formyltransferase/IMP cyclohydrolase bifunctional enzymeAICARFT/IMPCHASEepididymis secretory sperm binding protein Li 7
	Modification date	20200313	20200313
	UniProtAcc	Q6P1L5	P31939
	Ensembl transtripts involved in fusion gene	ENST00000392238, ENST00000303116,	ENST00000435675, ENST00000540518, ENST00000236959,
Fusion gene scores	* DoF score	5 X 4 X 4=80	10 X 9 X 4=360
	# samples	5	10
	** MAII score	log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/360*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: FAM117B [Title/Abstract] AND ATIC [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	FAM117B(203500511)-ATIC(216177221), # samples:3
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

Fusion gene breakpoints across FAM117B (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 ATIC (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-A1F0-01A	FAM117B	chr2	203500511	-	ATIC	chr2	216177221	+
ChimerDB4	BRCA	TCGA-BH-A1F0-01A	FAM117B	chr2	203500511	+	ATIC	chr2	216177221	+

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Fusion Gene ORF analysis for FAM117B-ATIC

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	ENST00000392238	ENST00000435675	FAM117B	chr2	203500511	+	ATIC	chr2	216177221	+
5CDS-5UTR	ENST00000392238	ENST00000540518	FAM117B	chr2	203500511	+	ATIC	chr2	216177221	+
5UTR-3CDS	ENST00000303116	ENST00000236959	FAM117B	chr2	203500511	+	ATIC	chr2	216177221	+
5UTR-5UTR	ENST00000303116	ENST00000435675	FAM117B	chr2	203500511	+	ATIC	chr2	216177221	+
5UTR-5UTR	ENST00000303116	ENST00000540518	FAM117B	chr2	203500511	+	ATIC	chr2	216177221	+
In-frame	ENST00000392238	ENST00000236959	FAM117B	chr2	203500511	+	ATIC	chr2	216177221	+

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)

ENST00000392238

FAM117B

chr2

203500511

ENST00000236959

ATIC

chr2

216177221

2469

601

2360

786

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
ENST00000392238	ENST00000236959	FAM117B	chr2	203500511	+	ATIC	chr2	216177221	+	0.00374801	0.996252

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Fusion Genomic Features for FAM117B-ATIC

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)
FAM117B	chr2	203500511	+	ATIC	chr2	216177220	+	0.000209979	0.99979
FAM117B	chr2	203500511	+	ATIC	chr2	216177220	+	0.000209979	0.99979

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 FAM117B-ATIC

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:203500511/chr2:216177221)
- 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
FAM117B Q6P1L5	ATIC P31939
	FUNCTION: Bifunctional enzyme that catalyzes the last two steps of purine biosynthesis (PubMed:11948179, PubMed:14756554). Acts as a transformylase that incorporates a formyl group to the AMP analog AICAR (5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide) to produce the intermediate formyl-AICAR (FAICAR) (PubMed:9378707, PubMed:11948179, PubMed:10985775). Can use both 10-formyldihydrofolate and 10-formyltetrahydrofolate as the formyl donor in this reaction (PubMed:10985775). Also catalyzes the cyclization of FAICAR to IMP (PubMed:11948179, PubMed:14756554). Is able to convert thio-AICAR to 6-mercaptopurine ribonucleotide, an inhibitor of purine biosynthesis used in the treatment of human leukemias (PubMed:10985775). Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571). {ECO:0000269\|PubMed:10985775, ECO:0000269\|PubMed:11948179, ECO:0000269\|PubMed:14756554, ECO:0000269\|PubMed:25687571, ECO:0000269\|PubMed:9378707}.

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

FAM117B

chr2:203500511

chr2:216177221

ENST00000392238

137_145

200

590.0

Compositional bias

Note=Poly-Pro

Hgene

FAM117B

chr2:203500511

chr2:216177221

ENST00000392238

15_99

200

590.0

Compositional bias

Note=Gly-rich

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000435675

2_146

592.0

Domain

MGS-like

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000236959

101_102

593.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000236959

125_126

593.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000236959

12_14

593.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000236959

34_37

593.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000236959

64_67

593.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000435675

101_102

592.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000435675

125_126

592.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000435675

12_14

592.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000435675

34_37

592.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000435675

64_67

592.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000236959

199_592

593.0

Region

AICAR formyltransferase

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000236959

207_208

593.0

Region

AICAR binding

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000236959

565_566

593.0

Region

10-formyltetrahydrofolate binding

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000435675

199_592

592.0

Region

AICAR formyltransferase

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000435675

207_208

592.0

Region

AICAR binding

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000435675

2_198

592.0

Region

IMP cyclohydrolase

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000435675

565_566

592.0

Region

10-formyltetrahydrofolate binding

- 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

FAM117B

chr2:203500511

chr2:216177221

ENST00000303116

137_145

346.0

Compositional bias

Note=Poly-Pro

Hgene

FAM117B

chr2:203500511

chr2:216177221

ENST00000303116

15_99

346.0

Compositional bias

Note=Gly-rich

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000236959

2_146

593.0

Domain

MGS-like

Tgene

ATIC

chr2:203500511

chr2:216177221

ENST00000236959

2_198

593.0

Region

IMP cyclohydrolase

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Fusion Gene Sequence for FAM117B-ATIC

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.

>28373_28373_1_FAM117B-ATIC_FAM117B_chr2_203500511_ENST00000392238_ATIC_chr2_216177221_ENST00000236959_length(transcript)=2469nt_BP=601nt
ATGTCCCAGCGGGTGAGGCGCAATGGGTCCCCCACGCCGGCCGGCTCCCTTGGGGGTGGTGCGGTGGCCACGGCCGGGGGACCCGGGAGC
CGCTTGCAGCCCATGAGGGCGACGGTTCCGTTCCAGCTGAAGCAGCAGCAGCAGCAGCAACATGGCAGCCCCACGCGGAGCGGCGGCGGC
GGCGGCGGCAACAACAACGGTGGCTGCTGTGGTGGCGCCTCAGGCCCCGCAGGCGGCGGCGGCGGCGGTGGCCCGCGCACCGCCTCGCGC
AGCACCAGCCCCACGCGCGGCGGCGGGAACGCGGCCGCGCGCACCAGCCCCACGGTGGCCACGCAGACGGGCGCGTCCGCGACGTCCACG
CGAGGCACCAGCCCCACGCGCAGCGCCGCGCCTGGAGCTCGCGGGAGCCCCCCACGGCCGCCGCCGCCGCCGCCGCTGCTGGGCACCGTG
TCGTCGCCCAGCTCGTCGCCCACCCACCTGTGGACCGGCGAGGTGAGCGCGGCCCCACCCCCAGCCCGCGTCCGGCATCGGAGGAGGTCT
CCGGAGCAGAGCCGAAGCTCGCCGGAGAAGAGGAGCCCCAGCGCCCCGGTTTGCAAAGCAGCCTTATTTAGTGTCTCTGACAAAACCGGC
CTTGTGGAATTTGCAAGAAACCTGACCGCTCTTGGTTTGAATCTGGTCGCTTCCGGAGGGACTGCAAAAGCTCTCAGGGATGCTGGTCTG
GCAGTCAGAGATGTCTCTGAGTTGACGGGATTTCCTGAAATGTTGGGGGGACGTGTGAAAACTTTGCATCCTGCAGTCCATGCTGGAATC
CTAGCTCGTAATATTCCAGAAGATAATGCTGACATGGCCAGACTTGATTTCAATCTTATAAGAGTTGTTGCCTGCAATCTCTATCCCTTT
GTAAAGACAGTGGCTTCTCCAGGTGTAACTGTTGAGGAGGCTGTGGAGCAAATTGACATTGGTGGAGTAACCTTACTGAGAGCTGCAGCC
AAAAACCACGCTCGAGTGACAGTGGTGTGTGAACCAGAGGACTATGTGGTGGTGTCCACGGAGATGCAGAGCTCCGAGAGTAAGGACACC
TCCTTGGAGACTAGACGCCAGTTAGCCTTGAAGGCATTCACTCATACGGCACAATATGATGAAGCAATTTCAGATTATTTCAGGAAACAG
TACAGCAAAGGCGTATCTCAGATGCCCTTGAGATATGGAATGAACCCACATCAGACCCCTGCCCAGCTGTACACACTGCAGCCCAAGCTT
CCCATCACAGTTCTAAATGGAGCCCCTGGATTTATAAACTTGTGCGATGCTTTGAACGCCTGGCAGCTGGTGAAGGAACTCAAGGAGGCT
TTAGGTATTCCAGCCGCTGCCTCTTTCAAACATGTCAGCCCAGCAGGTGCTGCTGTTGGAATTCCACTCAGTGAAGATGAGGCCAAAGTC
TGCATGGTTTATGATCTCTATAAAACCCTCACACCCATCTCAGCGGCATATGCAAGAGCAAGAGGGGCTGATAGGATGTCTTCATTTGGT
GATTTTGTTGCATTGTCCGATGTTTGTGATGTACCAACTGCAAAAATTATTTCCAGAGAAGTATCTGATGGTATAATTGCCCCAGGATAT
GAAGAAGAAGCCTTGACAATACTTTCCAAAAAGAAAAATGGAAACTATTGTGTCCTTCAGATGGACCAATCTTACAAACCAGATGAAAAT
GAAGTTCGAACTCTCTTTGGTCTTCATTTAAGCCAGAAGAGAAATAATGGTGTCGTCGACAAGTCATTATTTAGCAATGTTGTTACCAAA
AATAAAGATTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCC
AAGAACGGGCAGGTTATCGGCATTGGAGCAGGACAGCAGTCTCGTATACACTGCACTCGCCTTGCAGGAGATAAGGCAAACTATTGGTGG
CTTAGACACCATCCACAAGTGCTTTCGATGAAGTTTAAAACAGGAGTGAAGAGAGCAGAAATCTCCAATGCCATCGATCAATATGTGACT
GGAACCATTGGCGAGGATGAAGATTTGATAAAGTGGAAGGCACTGTTTGAGGAAGTCCCTGAGTTACTCACTGAGGCAGAGAAGAAGGAA
TGGGTTGAGAAACTGACTGAAGTTTCTATCAGCTCTGATGCCTTCTTCCCTTTCCGAGATAACGTAGACAGAGCTAAAAGGAGTGGTGTG
GCGTACATTGCGGCTCCCTCCGGTTCTGCTGCTGACAAAGTTGTGATTGAGGCCTGCGACGAACTGGGAATCATCCTCGCTCATACGAAC
CTTCGGCTCTTCCACCACTGATTTTACCACACACTGTTTTTTGGCTTGCTTATGTGTAGGTGAACAGTCACGCCTGAAACTTTGAGGATA

>28373_28373_1_FAM117B-ATIC_FAM117B_chr2_203500511_ENST00000392238_ATIC_chr2_216177221_ENST00000236959_length(amino acids)=786AA_BP=200
MSQRVRRNGSPTPAGSLGGGAVATAGGPGSRLQPMRATVPFQLKQQQQQQHGSPTRSGGGGGGNNNGGCCGGASGPAGGGGGGGPRTASR
STSPTRGGGNAAARTSPTVATQTGASATSTRGTSPTRSAAPGARGSPPRPPPPPPLLGTVSSPSSSPTHLWTGEVSAAPPPARVRHRRRS
PEQSRSSPEKRSPSAPVCKAALFSVSDKTGLVEFARNLTALGLNLVASGGTAKALRDAGLAVRDVSELTGFPEMLGGRVKTLHPAVHAGI
LARNIPEDNADMARLDFNLIRVVACNLYPFVKTVASPGVTVEEAVEQIDIGGVTLLRAAAKNHARVTVVCEPEDYVVVSTEMQSSESKDT
SLETRRQLALKAFTHTAQYDEAISDYFRKQYSKGVSQMPLRYGMNPHQTPAQLYTLQPKLPITVLNGAPGFINLCDALNAWQLVKELKEA
LGIPAAASFKHVSPAGAAVGIPLSEDEAKVCMVYDLYKTLTPISAAYARARGADRMSSFGDFVALSDVCDVPTAKIISREVSDGIIAPGY
EEEALTILSKKKNGNYCVLQMDQSYKPDENEVRTLFGLHLSQKRNNGVVDKSLFSNVVTKNKDLPESALRDLIVATIAVKYTQSNSVCYA
KNGQVIGIGAGQQSRIHCTRLAGDKANYWWLRHHPQVLSMKFKTGVKRAEISNAIDQYVTGTIGEDEDLIKWKALFEEVPELLTEAEKKE

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

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Fusion Gene PPI Analysis for FAM117B-ATIC

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 FAM117B-ATIC

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 FAM117B-ATIC

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source