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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:C2orf69-ATIC (FusionGDB2 ID:HG205327TG471)

Fusion Gene Summary for C2orf69-ATIC

check button Fusion gene summary
Fusion gene informationFusion gene name: C2orf69-ATIC
Fusion gene ID: hg205327tg471
HgeneTgene
Gene symbol

C2orf69

ATIC

Gene ID

205327

471

Gene namechromosome 2 open reading frame 695-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Synonyms-AICAR|AICARFT|HEL-S-70p|IMPCHASE|PURH
Cytomap('C2orf69')('ATIC')

2q33.1

2q35

Type of geneprotein-codingprotein-coding
DescriptionUPF0565 protein C2orf69bifunctional 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 date2020031320200313
UniProtAcc

Q8N8R5

P31939

Ensembl transtripts involved in fusion geneENST00000491721, ENST00000319974, 
Fusion gene scores* DoF score5 X 3 X 2=3010 X 9 X 4=360
# samples 510
** MAII scorelog2(5/30*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: C2orf69 [Title/Abstract] AND ATIC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC2orf69(200776494)-ATIC(216213817), # samples:1
Anticipated loss of major functional domain due to fusion event.C2orf69-ATIC seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
C2orf69-ATIC seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
C2orf69-ATIC seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
C2orf69-ATIC seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across C2orf69 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion 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.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-8284-01AC2orf69chr2

200776494

+ATICchr2

216213817

+


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Fusion Gene ORF analysis for C2orf69-ATIC

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000491721ENST00000236959C2orf69chr2

200776494

+ATICchr2

216213817

+
3UTR-3CDSENST00000491721ENST00000435675C2orf69chr2

200776494

+ATICchr2

216213817

+
3UTR-3CDSENST00000491721ENST00000540518C2orf69chr2

200776494

+ATICchr2

216213817

+
In-frameENST00000319974ENST00000236959C2orf69chr2

200776494

+ATICchr2

216213817

+
In-frameENST00000319974ENST00000435675C2orf69chr2

200776494

+ATICchr2

216213817

+
In-frameENST00000319974ENST00000540518C2orf69chr2

200776494

+ATICchr2

216213817

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000319974C2orf69chr2200776494+ENST00000236959ATICchr2216213817+90051639791250
ENST00000319974C2orf69chr2200776494+ENST00000540518ATICchr2216213817+90051639791250
ENST00000319974C2orf69chr2200776494+ENST00000435675ATICchr2216213817+90051639791250

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000319974ENST00000236959C2orf69chr2200776494+ATICchr2216213817+0.0014393560.9985606
ENST00000319974ENST00000540518C2orf69chr2200776494+ATICchr2216213817+0.0014393560.9985606
ENST00000319974ENST00000435675C2orf69chr2200776494+ATICchr2216213817+0.0014393560.9985606

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Fusion Genomic Features for C2orf69-ATIC


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
C2orf69chr2200776494+ATICchr2216213816+2.49E-081
C2orf69chr2200776494+ATICchr2216213816+2.49E-081

check buttonDistribution 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.
genomic feature

check buttonDistribution 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.
genomic feature of top 1%

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Fusion Protein Features for C2orf69-ATIC


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:200776494/chr2:216213817)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C2orf69

Q8N8R5

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}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneATICchr2:200776494chr2:216213817ENST000002369591316565_566501593.0Region10-formyltetrahydrofolate binding
TgeneATICchr2:200776494chr2:216213817ENST000004356751215565_566500592.0Region10-formyltetrahydrofolate binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneATICchr2:200776494chr2:216213817ENST0000023695913162_146501593.0DomainMGS-like
TgeneATICchr2:200776494chr2:216213817ENST0000043567512152_146500592.0DomainMGS-like
TgeneATICchr2:200776494chr2:216213817ENST000002369591316101_102501593.0Nucleotide bindingIMP
TgeneATICchr2:200776494chr2:216213817ENST000002369591316125_126501593.0Nucleotide bindingIMP
TgeneATICchr2:200776494chr2:216213817ENST00000236959131612_14501593.0Nucleotide bindingIMP
TgeneATICchr2:200776494chr2:216213817ENST00000236959131634_37501593.0Nucleotide bindingIMP
TgeneATICchr2:200776494chr2:216213817ENST00000236959131664_67501593.0Nucleotide bindingIMP
TgeneATICchr2:200776494chr2:216213817ENST000004356751215101_102500592.0Nucleotide bindingIMP
TgeneATICchr2:200776494chr2:216213817ENST000004356751215125_126500592.0Nucleotide bindingIMP
TgeneATICchr2:200776494chr2:216213817ENST00000435675121512_14500592.0Nucleotide bindingIMP
TgeneATICchr2:200776494chr2:216213817ENST00000435675121534_37500592.0Nucleotide bindingIMP
TgeneATICchr2:200776494chr2:216213817ENST00000435675121564_67500592.0Nucleotide bindingIMP
TgeneATICchr2:200776494chr2:216213817ENST000002369591316199_592501593.0RegionAICAR formyltransferase
TgeneATICchr2:200776494chr2:216213817ENST000002369591316207_208501593.0RegionAICAR binding
TgeneATICchr2:200776494chr2:216213817ENST0000023695913162_198501593.0RegionIMP cyclohydrolase
TgeneATICchr2:200776494chr2:216213817ENST000004356751215199_592500592.0RegionAICAR formyltransferase
TgeneATICchr2:200776494chr2:216213817ENST000004356751215207_208500592.0RegionAICAR binding
TgeneATICchr2:200776494chr2:216213817ENST0000043567512152_198500592.0RegionIMP cyclohydrolase


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Fusion Gene Sequence for C2orf69-ATIC


check button 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.
>11659_11659_1_C2orf69-ATIC_C2orf69_chr2_200776494_ENST00000319974_ATIC_chr2_216213817_ENST00000236959_length(transcript)=900nt_BP=516nt
CTTCCTTTCCTTACGCACGCTGCGCGCGGACGTCGGCCTCTGACGTCGTCGCCTCAGCGCCGGCTCCCGGCCGGGCCGCGGCCGCCGACC
GTTGAGCCGCCGGCTGAGCCGCCTGCTGAAGTCCCTCCCTCAGGAACCCCTCCGCCACCCTCCACCTCCGAACCGCTCTCGCGGCGGCGA
CCCATGTGGGGGTTCAGGCTCCTGCGGTCGCCGCCGTTGCTGCTCCTGCTGCCGCAGCTCGGAATCGGAAACGCCTCGTCCTGCTCTCAG
GCCAGAACCATGAACCCGGGCGGCAGCGGCGGCGCGCGATGCTCCCTCTCGGCCGAGGTGCGCCGCCGTCAGTGCCTGCAGCTTTCCACC
GTGCCTGGAGCCGATCCGCAGCGCAGCAACGAATTGCTCCTGTTGGCGGCGGCCGGGGAGGGACTGGAGCGGCAGGACCTCCCCGGGGAC
CCAGCGAAGGAGGAGCCGCAGCCGCCGCCCCAGCATCACGTCCTCTATTTCCCTGGGGATGTGCAGGATGAAGATTTGATAAAGTGGAAG
GCACTGTTTGAGGAAGTCCCTGAGTTACTCACTGAGGCAGAGAAGAAGGAATGGGTTGAGAAACTGACTGAAGTTTCTATCAGCTCTGAT
GCCTTCTTCCCTTTCCGAGATAACGTAGACAGAGCTAAAAGGAGTGGTGTGGCGTACATTGCGGCTCCCTCCGGTTCTGCTGCTGACAAA
GTTGTGATTGAGGCCTGCGACGAACTGGGAATCATCCTCGCTCATACGAACCTTCGGCTCTTCCACCACTGATTTTACCACACACTGTTT
TTTGGCTTGCTTATGTGTAGGTGAACAGTCACGCCTGAAACTTTGAGGATAACTTTTTAAAAAAATAAAACAGTATCTCTTAATCACTGG

>11659_11659_1_C2orf69-ATIC_C2orf69_chr2_200776494_ENST00000319974_ATIC_chr2_216213817_ENST00000236959_length(amino acids)=250AA_BP=159
MTSSPQRRLPAGPRPPTVEPPAEPPAEVPPSGTPPPPSTSEPLSRRRPMWGFRLLRSPPLLLLLPQLGIGNASSCSQARTMNPGGSGGAR
CSLSAEVRRRQCLQLSTVPGADPQRSNELLLLAAAGEGLERQDLPGDPAKEEPQPPPQHHVLYFPGDVQDEDLIKWKALFEEVPELLTEA

--------------------------------------------------------------
>11659_11659_2_C2orf69-ATIC_C2orf69_chr2_200776494_ENST00000319974_ATIC_chr2_216213817_ENST00000435675_length(transcript)=900nt_BP=516nt
CTTCCTTTCCTTACGCACGCTGCGCGCGGACGTCGGCCTCTGACGTCGTCGCCTCAGCGCCGGCTCCCGGCCGGGCCGCGGCCGCCGACC
GTTGAGCCGCCGGCTGAGCCGCCTGCTGAAGTCCCTCCCTCAGGAACCCCTCCGCCACCCTCCACCTCCGAACCGCTCTCGCGGCGGCGA
CCCATGTGGGGGTTCAGGCTCCTGCGGTCGCCGCCGTTGCTGCTCCTGCTGCCGCAGCTCGGAATCGGAAACGCCTCGTCCTGCTCTCAG
GCCAGAACCATGAACCCGGGCGGCAGCGGCGGCGCGCGATGCTCCCTCTCGGCCGAGGTGCGCCGCCGTCAGTGCCTGCAGCTTTCCACC
GTGCCTGGAGCCGATCCGCAGCGCAGCAACGAATTGCTCCTGTTGGCGGCGGCCGGGGAGGGACTGGAGCGGCAGGACCTCCCCGGGGAC
CCAGCGAAGGAGGAGCCGCAGCCGCCGCCCCAGCATCACGTCCTCTATTTCCCTGGGGATGTGCAGGATGAAGATTTGATAAAGTGGAAG
GCACTGTTTGAGGAAGTCCCTGAGTTACTCACTGAGGCAGAGAAGAAGGAATGGGTTGAGAAACTGACTGAAGTTTCTATCAGCTCTGAT
GCCTTCTTCCCTTTCCGAGATAACGTAGACAGAGCTAAAAGGAGTGGTGTGGCGTACATTGCGGCTCCCTCCGGTTCTGCTGCTGACAAA
GTTGTGATTGAGGCCTGCGACGAACTGGGAATCATCCTCGCTCATACGAACCTTCGGCTCTTCCACCACTGATTTTACCACACACTGTTT
TTTGGCTTGCTTATGTGTAGGTGAACAGTCACGCCTGAAACTTTGAGGATAACTTTTTAAAAAAATAAAACAGTATCTCTTAATCACTGG

>11659_11659_2_C2orf69-ATIC_C2orf69_chr2_200776494_ENST00000319974_ATIC_chr2_216213817_ENST00000435675_length(amino acids)=250AA_BP=159
MTSSPQRRLPAGPRPPTVEPPAEPPAEVPPSGTPPPPSTSEPLSRRRPMWGFRLLRSPPLLLLLPQLGIGNASSCSQARTMNPGGSGGAR
CSLSAEVRRRQCLQLSTVPGADPQRSNELLLLAAAGEGLERQDLPGDPAKEEPQPPPQHHVLYFPGDVQDEDLIKWKALFEEVPELLTEA

--------------------------------------------------------------
>11659_11659_3_C2orf69-ATIC_C2orf69_chr2_200776494_ENST00000319974_ATIC_chr2_216213817_ENST00000540518_length(transcript)=900nt_BP=516nt
CTTCCTTTCCTTACGCACGCTGCGCGCGGACGTCGGCCTCTGACGTCGTCGCCTCAGCGCCGGCTCCCGGCCGGGCCGCGGCCGCCGACC
GTTGAGCCGCCGGCTGAGCCGCCTGCTGAAGTCCCTCCCTCAGGAACCCCTCCGCCACCCTCCACCTCCGAACCGCTCTCGCGGCGGCGA
CCCATGTGGGGGTTCAGGCTCCTGCGGTCGCCGCCGTTGCTGCTCCTGCTGCCGCAGCTCGGAATCGGAAACGCCTCGTCCTGCTCTCAG
GCCAGAACCATGAACCCGGGCGGCAGCGGCGGCGCGCGATGCTCCCTCTCGGCCGAGGTGCGCCGCCGTCAGTGCCTGCAGCTTTCCACC
GTGCCTGGAGCCGATCCGCAGCGCAGCAACGAATTGCTCCTGTTGGCGGCGGCCGGGGAGGGACTGGAGCGGCAGGACCTCCCCGGGGAC
CCAGCGAAGGAGGAGCCGCAGCCGCCGCCCCAGCATCACGTCCTCTATTTCCCTGGGGATGTGCAGGATGAAGATTTGATAAAGTGGAAG
GCACTGTTTGAGGAAGTCCCTGAGTTACTCACTGAGGCAGAGAAGAAGGAATGGGTTGAGAAACTGACTGAAGTTTCTATCAGCTCTGAT
GCCTTCTTCCCTTTCCGAGATAACGTAGACAGAGCTAAAAGGAGTGGTGTGGCGTACATTGCGGCTCCCTCCGGTTCTGCTGCTGACAAA
GTTGTGATTGAGGCCTGCGACGAACTGGGAATCATCCTCGCTCATACGAACCTTCGGCTCTTCCACCACTGATTTTACCACACACTGTTT
TTTGGCTTGCTTATGTGTAGGTGAACAGTCACGCCTGAAACTTTGAGGATAACTTTTTAAAAAAATAAAACAGTATCTCTTAATCACTGG

>11659_11659_3_C2orf69-ATIC_C2orf69_chr2_200776494_ENST00000319974_ATIC_chr2_216213817_ENST00000540518_length(amino acids)=250AA_BP=159
MTSSPQRRLPAGPRPPTVEPPAEPPAEVPPSGTPPPPSTSEPLSRRRPMWGFRLLRSPPLLLLLPQLGIGNASSCSQARTMNPGGSGGAR
CSLSAEVRRRQCLQLSTVPGADPQRSNELLLLAAAGEGLERQDLPGDPAKEEPQPPPQHHVLYFPGDVQDEDLIKWKALFEEVPELLTEA

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

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Fusion Gene PPI Analysis for C2orf69-ATIC


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for C2orf69-ATIC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneATICP31939DB00563MethotrexateInhibitorSmall moleculeApproved
TgeneATICP31939DB00563MethotrexateInhibitorSmall moleculeApproved
TgeneATICP31939DB00563MethotrexateInhibitorSmall moleculeApproved
TgeneATICP31939DB00642PemetrexedInhibitorSmall moleculeApproved|Investigational
TgeneATICP31939DB00642PemetrexedInhibitorSmall moleculeApproved|Investigational
TgeneATICP31939DB00642PemetrexedInhibitorSmall moleculeApproved|Investigational

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Related Diseases for C2orf69-ATIC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0001787Osteoporosis, Age-Related1CTD_human
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0029456Osteoporosis1CTD_human
TgeneC0029459Osteoporosis, Senile1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0155003Blindness, Transient1CTD_human
TgeneC0221473Blindness, Hysterical1CTD_human
TgeneC0271215Blindness, Legal1CTD_human
TgeneC0339730Blindness, Acquired1CTD_human
TgeneC0376288Amaurosis1CTD_human
TgeneC0456909Blindness1CTD_human
TgeneC0750958Blindness, Monocular1CTD_human
TgeneC0751406Post-Traumatic Osteoporosis1CTD_human
TgeneC1837530AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency1CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1879328Blindness both eyes NOS (disorder)1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND