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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:WDR75-ATIC

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: WDR75-ATIC
FusionPDB ID: 99090
FusionGDB2.0 ID: 99090
HgeneTgene
Gene symbol

WDR75

ATIC

Gene ID

84128

471

Gene nameWD repeat domain 755-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
SynonymsNET16|UTP17AICAR|AICARFT|HEL-S-70p|IMPCHASE|PURH
Cytomap

2q32.2

2q35

Type of geneprotein-codingprotein-coding
DescriptionWD repeat-containing protein 75U3 small nucleolar RNA-associated protein 17 homologUTP17, small subunit (SSU) processome component, homologbifunctional 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 geneENST idsENST00000314761, ENST00000236959, 
ENST00000435675, ENST00000540518, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 3 X 3=3610 X 9 X 4=360
# samples 410
** MAII scorelog2(4/36*10)=0.15200309344505
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: WDR75 [Title/Abstract] AND ATIC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)WDR75(190320170)-ATIC(216200758), # samples:1
Anticipated loss of major functional domain due to fusion event.WDR75-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.
WDR75-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.
WDR75-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.
WDR75-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 WDR75 (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


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4Non-CancerERR315399WDR75chr2

190320170

+ATICchr2

216200758

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000314761WDR75chr2190320170+ENST00000236959ATICchr2216200758+1437558601328422
ENST00000314761WDR75chr2190320170+ENST00000540518ATICchr2216200758+1437558601328422
ENST00000314761WDR75chr2190320170+ENST00000435675ATICchr2216200758+1437558601328422

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
ENST00000314761ENST00000236959WDR75chr2190320170+ATICchr2216200758+0.0005362990.99946374
ENST00000314761ENST00000540518WDR75chr2190320170+ATICchr2216200758+0.0005362990.99946374
ENST00000314761ENST00000435675WDR75chr2190320170+ATICchr2216200758+0.0005362990.99946374

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Fusion Amino Acid Sequences


check button 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

>99090_99090_1_WDR75-ATIC_WDR75_chr2_190320170_ENST00000314761_ATIC_chr2_216200758_ENST00000236959_length(amino acids)=422AA_BP=166
MVEEENIRVVRCGGSELNFRRAVFSADSKYIFCVSGDFVKVYSTVTEECVHILHGHRNLVTGIQLNPNNHLQLYSCSLDGTIKLWDYIDG
ILIKTFIVGCKLHALFTLAQAEDSVFVIVNKEKPDIFQLVSVKLPKSSSQEVEAKELSFVLDYINQSPKCIAFGNEVSDGIIAPGYEEEA
LTILSKKKNGNYCVLQMDQSYKPDENEVRTLFGLHLSQKRNNGVVDKSLFSNVVTKNKDLPESALRDLIVATIAVKYTQSNSVCYAKNGQ
VIGIGAGQQSRIHCTRLAGDKANYWWLRHHPQVLSMKFKTGVKRAEISNAIDQYVTGTIGEDEDLIKWKALFEEVPELLTEAEKKEWVEK

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

>99090_99090_2_WDR75-ATIC_WDR75_chr2_190320170_ENST00000314761_ATIC_chr2_216200758_ENST00000435675_length(amino acids)=422AA_BP=166
MVEEENIRVVRCGGSELNFRRAVFSADSKYIFCVSGDFVKVYSTVTEECVHILHGHRNLVTGIQLNPNNHLQLYSCSLDGTIKLWDYIDG
ILIKTFIVGCKLHALFTLAQAEDSVFVIVNKEKPDIFQLVSVKLPKSSSQEVEAKELSFVLDYINQSPKCIAFGNEVSDGIIAPGYEEEA
LTILSKKKNGNYCVLQMDQSYKPDENEVRTLFGLHLSQKRNNGVVDKSLFSNVVTKNKDLPESALRDLIVATIAVKYTQSNSVCYAKNGQ
VIGIGAGQQSRIHCTRLAGDKANYWWLRHHPQVLSMKFKTGVKRAEISNAIDQYVTGTIGEDEDLIKWKALFEEVPELLTEAEKKEWVEK

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

>99090_99090_3_WDR75-ATIC_WDR75_chr2_190320170_ENST00000314761_ATIC_chr2_216200758_ENST00000540518_length(amino acids)=422AA_BP=166
MVEEENIRVVRCGGSELNFRRAVFSADSKYIFCVSGDFVKVYSTVTEECVHILHGHRNLVTGIQLNPNNHLQLYSCSLDGTIKLWDYIDG
ILIKTFIVGCKLHALFTLAQAEDSVFVIVNKEKPDIFQLVSVKLPKSSSQEVEAKELSFVLDYINQSPKCIAFGNEVSDGIIAPGYEEEA
LTILSKKKNGNYCVLQMDQSYKPDENEVRTLFGLHLSQKRNNGVVDKSLFSNVVTKNKDLPESALRDLIVATIAVKYTQSNSVCYAKNGQ
VIGIGAGQQSRIHCTRLAGDKANYWWLRHHPQVLSMKFKTGVKRAEISNAIDQYVTGTIGEDEDLIKWKALFEEVPELLTEAEKKEWVEK

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

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Fusion Protein Functional Features


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/chr2:190320170/chr2:216200758)
- 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: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+52147_86166.0831.0RepeatNote=WD 2
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+5214_43166.0831.0RepeatNote=WD 1
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+52190_131166.0831.0RepeatNote=WD 3
TgeneATICchr2:190320170chr2:216200758ENST00000236959916565_566336.0593.0Region10-formyltetrahydrofolate binding
TgeneATICchr2:190320170chr2:216200758ENST00000435675815565_566335.0592.0Region10-formyltetrahydrofolate binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+521145_184166.0831.0RepeatNote=WD 4
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+521193_231166.0831.0RepeatNote=WD 5
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+521237_276166.0831.0RepeatNote=WD 6
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+521279_318166.0831.0RepeatNote=WD 7
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+521324_362166.0831.0RepeatNote=WD 8
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+521376_423166.0831.0RepeatNote=WD 9
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+521430_474166.0831.0RepeatNote=WD 10
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+521487_525166.0831.0RepeatNote=WD 11
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+521529_569166.0831.0RepeatNote=WD 12
HgeneWDR75chr2:190320170chr2:216200758ENST00000314761+521574_611166.0831.0RepeatNote=WD 13
TgeneATICchr2:190320170chr2:216200758ENST000002369599162_146336.0593.0DomainMGS-like
TgeneATICchr2:190320170chr2:216200758ENST000004356758152_146335.0592.0DomainMGS-like
TgeneATICchr2:190320170chr2:216200758ENST00000236959916101_102336.0593.0Nucleotide bindingIMP
TgeneATICchr2:190320170chr2:216200758ENST00000236959916125_126336.0593.0Nucleotide bindingIMP
TgeneATICchr2:190320170chr2:216200758ENST0000023695991612_14336.0593.0Nucleotide bindingIMP
TgeneATICchr2:190320170chr2:216200758ENST0000023695991634_37336.0593.0Nucleotide bindingIMP
TgeneATICchr2:190320170chr2:216200758ENST0000023695991664_67336.0593.0Nucleotide bindingIMP
TgeneATICchr2:190320170chr2:216200758ENST00000435675815101_102335.0592.0Nucleotide bindingIMP
TgeneATICchr2:190320170chr2:216200758ENST00000435675815125_126335.0592.0Nucleotide bindingIMP
TgeneATICchr2:190320170chr2:216200758ENST0000043567581512_14335.0592.0Nucleotide bindingIMP
TgeneATICchr2:190320170chr2:216200758ENST0000043567581534_37335.0592.0Nucleotide bindingIMP
TgeneATICchr2:190320170chr2:216200758ENST0000043567581564_67335.0592.0Nucleotide bindingIMP
TgeneATICchr2:190320170chr2:216200758ENST00000236959916199_592336.0593.0RegionAICAR formyltransferase
TgeneATICchr2:190320170chr2:216200758ENST00000236959916207_208336.0593.0RegionAICAR binding
TgeneATICchr2:190320170chr2:216200758ENST000002369599162_198336.0593.0RegionIMP cyclohydrolase
TgeneATICchr2:190320170chr2:216200758ENST00000435675815199_592335.0592.0RegionAICAR formyltransferase
TgeneATICchr2:190320170chr2:216200758ENST00000435675815207_208335.0592.0RegionAICAR binding
TgeneATICchr2:190320170chr2:216200758ENST000004356758152_198335.0592.0RegionIMP cyclohydrolase


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
ATICPSTPIP1, 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,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
WDR75
ATICall structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to WDR75-ATIC


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

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Related Diseases to WDR75-ATIC


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

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneATICC0001787Osteoporosis, Age-Related1CTD_human
TgeneATICC0003873Rheumatoid Arthritis1CTD_human
TgeneATICC0013221Drug toxicity1CTD_human
TgeneATICC0029456Osteoporosis1CTD_human
TgeneATICC0029459Osteoporosis, Senile1CTD_human
TgeneATICC0041755Adverse reaction to drug1CTD_human
TgeneATICC0155003Blindness, Transient1CTD_human
TgeneATICC0221473Blindness, Hysterical1CTD_human
TgeneATICC0271215Blindness, Legal1CTD_human
TgeneATICC0339730Blindness, Acquired1CTD_human
TgeneATICC0376288Amaurosis1CTD_human
TgeneATICC0456909Blindness1CTD_human
TgeneATICC0750958Blindness, Monocular1CTD_human
TgeneATICC0751406Post-Traumatic Osteoporosis1CTD_human
TgeneATICC1837530AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency1CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneATICC1879328Blindness both eyes NOS (disorder)1CTD_human
TgeneATICC3714756Intellectual Disability1GENOMICS_ENGLAND