UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY

Home

Download

Statistics

Examples

Help

Contact

level1

	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:C2orf69-ATIC

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: C2orf69-ATIC
	FusionPDB ID: 11659
	FusionGDB2.0 ID: 11659
		Hgene	Tgene
	Gene symbol	C2orf69	ATIC
	Gene ID	205327	471
	Gene name	chromosome 2 open reading frame 69	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
	Synonyms	-	AICAR\|AICARFT\|HEL-S-70p\|IMPCHASE\|PURH
	Cytomap	2q33.1	2q35
	Type of gene	protein-coding	protein-coding
	Description	UPF0565 protein C2orf69	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	Q8N8R5	P31939
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000491721, ENST00000319974,	ENST00000236959, ENST00000435675, ENST00000540518,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	5 X 3 X 2=30	10 X 9 X 4=360
	# samples	5	10
	** MAII score	log2(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 (manual curation of fusion genes in FusionPDB)	PubMed: C2orf69 [Title/Abstract] AND ATIC [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	C2orf69(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)

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 C2orf69 (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.

Top

Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	STAD	TCGA-BR-8284-01A	C2orf69	chr2	200776494	+	ATIC	chr2	216213817	+

Top

Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)

ENST00000319974

C2orf69

chr2

200776494

ENST00000236959

ATIC

chr2

216213817

900

516

791

250

ENST00000319974

C2orf69

chr2

200776494

ENST00000540518

ATIC

chr2

216213817

900

516

791

250

ENST00000319974

C2orf69

chr2

200776494

ENST00000435675

ATIC

chr2

216213817

900

516

791

250

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
ENST00000319974	ENST00000236959	C2orf69	chr2	200776494	+	ATIC	chr2	216213817	+	0.001439356	0.9985606
ENST00000319974	ENST00000540518	C2orf69	chr2	200776494	+	ATIC	chr2	216213817	+	0.001439356	0.9985606
ENST00000319974	ENST00000435675	C2orf69	chr2	200776494	+	ATIC	chr2	216213817	+	0.001439356	0.9985606

Top

Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>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(amino acids)=250AA_BP=159
MTSSPQRRLPAGPRPPTVEPPAEPPAEVPPSGTPPPPSTSEPLSRRRPMWGFRLLRSPPLLLLLPQLGIGNASSCSQARTMNPGGSGGAR
CSLSAEVRRRQCLQLSTVPGADPQRSNELLLLAAAGEGLERQDLPGDPAKEEPQPPPQHHVLYFPGDVQDEDLIKWKALFEEVPELLTEA

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

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

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

Top

Fusion Protein Functional Features

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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
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}.

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.

- 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

ATIC

chr2:200776494

chr2:216213817

ENST00000236959

565_566

501.0

593.0

Region

10-formyltetrahydrofolate binding

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000435675

565_566

500.0

592.0

Region

10-formyltetrahydrofolate binding

- 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

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000236959

2_146

501.0

593.0

Domain

MGS-like

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000435675

2_146

500.0

592.0

Domain

MGS-like

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000236959

101_102

501.0

593.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000236959

125_126

501.0

593.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000236959

12_14

501.0

593.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000236959

34_37

501.0

593.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000236959

64_67

501.0

593.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000435675

101_102

500.0

592.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000435675

125_126

500.0

592.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000435675

12_14

500.0

592.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000435675

34_37

500.0

592.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000435675

64_67

500.0

592.0

Nucleotide binding

IMP

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000236959

199_592

501.0

593.0

Region

AICAR formyltransferase

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000236959

207_208

501.0

593.0

Region

AICAR binding

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000236959

2_198

501.0

593.0

Region

IMP cyclohydrolase

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000435675

199_592

500.0

592.0

Region

AICAR formyltransferase

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000435675

207_208

500.0

592.0

Region

AICAR binding

Tgene

ATIC

chr2:200776494

chr2:216213817

ENST00000435675

2_198

500.0

592.0

Region

IMP cyclohydrolase

Top

Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

ATIC

PSTPIP1, IKBKE, ELF3, JAK1, RADIL, STOM, HNRNPDL, SNRPA, NDUFAF1, CMBL, NME2, EGFR, SIRT7, ISG15, CDK2, CLNS1A, TYMS, OXCT1, RBBP6, CRK, TARDBP, SUMO2, TXN, ASB6, AHCY, CAPN2, CTH, FH, GMDS, MCTS1, STK26, MYO1E, OGFOD1, PAPSS1, PTMA, TATDN1, UBA1, IPO5, ISOC1, MSN, NAE1, NSFL1C, PAFAH1B1, PROSC, YWHAE, CUL7, INSR, ALDH16A1, ACOT13, ADSL, C6orf211, CTBP1, DERA, DNM1L, GLO1, HSPB1, KCNAB1, KCNAB2, PAICS, PGM1, PLIN3, SHMT1, SPR, EEF2, ELAC2, GART, RTN4, TRNT1, NTRK1, U2AF2, CDH1, MTNR1A, SERPINB5, CTNNB1, UBE2M, RNF123, AGR2, MYC, PRNP, BCAT1, DIABLO, ECH1, YWHAG, CAPNS1, LDHA, BIRC3, LMBR1L, TEX101, PINK1, LINC01554, CAV1, PRKCE, SH3GL3, SHOC2, EMC2, CIT, PRC1, IFI16, PYHIN1, FASN, SREBF2, NDN, BRD4, DDX58, OGT, ATG7, NAA40, KAT6A, CTSL, IFITM1, IFITM3, CLEC4D, CLEC4E, CCNF,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
C2orf69
ATIC

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs to C2orf69-ATIC

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to C2orf69-ATIC

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	ATIC	C0001787	Osteoporosis, Age-Related	1	CTD_human
Tgene	ATIC	C0003873	Rheumatoid Arthritis	1	CTD_human
Tgene	ATIC	C0013221	Drug toxicity	1	CTD_human
Tgene	ATIC	C0029456	Osteoporosis	1	CTD_human
Tgene	ATIC	C0029459	Osteoporosis, Senile	1	CTD_human
Tgene	ATIC	C0041755	Adverse reaction to drug	1	CTD_human
Tgene	ATIC	C0155003	Blindness, Transient	1	CTD_human
Tgene	ATIC	C0221473	Blindness, Hysterical	1	CTD_human
Tgene	ATIC	C0271215	Blindness, Legal	1	CTD_human
Tgene	ATIC	C0339730	Blindness, Acquired	1	CTD_human
Tgene	ATIC	C0376288	Amaurosis	1	CTD_human
Tgene	ATIC	C0456909	Blindness	1	CTD_human
Tgene	ATIC	C0750958	Blindness, Monocular	1	CTD_human
Tgene	ATIC	C0751406	Post-Traumatic Osteoporosis	1	CTD_human
Tgene	ATIC	C1837530	AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency	1	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	ATIC	C1879328	Blindness both eyes NOS (disorder)	1	CTD_human
Tgene	ATIC	C3714756	Intellectual Disability	1	GENOMICS_ENGLAND