Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:SNUPN-ATIC (FusionGDB2 ID:HG10073TG471)

Fusion Gene Summary for SNUPN-ATIC

check button Fusion gene summary
Fusion gene informationFusion gene name: SNUPN-ATIC
Fusion gene ID: hg10073tg471
HgeneTgene
Gene symbol

SNUPN

ATIC

Gene ID

10073

471

Gene namesnurportin 15-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
SynonymsKPNBL|RNUT1|Snurportin1AICAR|AICARFT|HEL-S-70p|IMPCHASE|PURH
Cytomap('SNUPN')('ATIC')

15q24.2

2q35

Type of geneprotein-codingprotein-coding
Descriptionsnurportin-1RNA U transporter 1bifunctional 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.

P31939

Ensembl transtripts involved in fusion geneENST00000308588, ENST00000371091, 
ENST00000564644, ENST00000564675, 
ENST00000567134, 
Fusion gene scores* DoF score4 X 4 X 2=3210 X 9 X 4=360
# samples 410
** MAII scorelog2(4/32*10)=0.321928094887362
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: SNUPN [Title/Abstract] AND ATIC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSNUPN(75918632)-ATIC(216176838), # samples:1
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)

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


check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABC007306SNUPNchr15

75918632

-ATICchr2

216176838

+


Top

Fusion Gene ORF analysis for SNUPN-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
intron-5UTRENST00000308588ENST00000236959SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000308588ENST00000435675SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000308588ENST00000540518SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000371091ENST00000236959SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000371091ENST00000435675SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000371091ENST00000540518SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000564644ENST00000236959SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000564644ENST00000435675SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000564644ENST00000540518SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000564675ENST00000236959SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000564675ENST00000435675SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000564675ENST00000540518SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000567134ENST00000236959SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000567134ENST00000435675SNUPNchr15

75918632

-ATICchr2

216176838

+
intron-5UTRENST00000567134ENST00000540518SNUPNchr15

75918632

-ATICchr2

216176838

+

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)

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

Top

Fusion Genomic Features for SNUPN-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)


Top

Fusion Protein Features for SNUPN-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/:75918632/:216176838)
- 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
.ATIC

P31939

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}.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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

Fusion Gene Sequence for SNUPN-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.

Top

Fusion Gene PPI Analysis for SNUPN-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


Top

Related Drugs for SNUPN-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

Top

Related Diseases for SNUPN-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