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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:IGF1R-PRPS1 (FusionGDB2 ID:38326)

Fusion Gene Summary for IGF1R-PRPS1

check button Fusion gene summary
Fusion gene informationFusion gene name: IGF1R-PRPS1
Fusion gene ID: 38326
HgeneTgene
Gene symbol

IGF1R

PRPS1

Gene ID

3480

221823

Gene nameinsulin like growth factor 1 receptorphosphoribosyl pyrophosphate synthetase 1 like 1
SynonymsCD221|IGFIR|IGFR|JTK13PRPS1|PRPS3|PRPSL|PRS-III
Cytomap

15q26.3

7p21.1

Type of geneprotein-codingprotein-coding
Descriptioninsulin-like growth factor 1 receptorIGF-I receptorsoluble IGF1R variant 1soluble IGF1R variant 2ribose-phosphate pyrophosphokinase 3PRPS1-like 1phosphoribosyl pyrophosphate synthase 1-like 1phosphoribosyl pyrophosphate synthase IIIphosphoribosylpyrophosphate synthetase subunit IIIribose-phosphate diphosphokinase catalytic chain IIIribose-phosp
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000268035, ENST00000558762, 
ENST00000560432, 		ENST00000372435, 
ENST00000372428, ENST00000372419, 
ENST00000543248, ENST00000372418, 
Fusion gene scores* DoF score24 X 15 X 6=21603 X 1 X 3=9
# samples 253
** MAII scorelog2(25/2160*10)=-3.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IGF1R [Title/Abstract] AND PRPS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIGF1R(99486281)-PRPS1(106882525), # samples:2
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
HgeneIGF1R

GO:0043066

negative regulation of apoptotic process

12556535

HgeneIGF1R

GO:0046328

regulation of JNK cascade

12556535

HgeneIGF1R

GO:0046777

protein autophosphorylation

1846292|7679099|11162456

HgeneIGF1R

GO:0048009

insulin-like growth factor receptor signaling pathway

7679099

HgeneIGF1R

GO:0048015

phosphatidylinositol-mediated signaling

7692086

HgeneIGF1R

GO:0051389

inactivation of MAPKK activity

12556535


check buttonFusion gene breakpoints across IGF1R (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PRPS1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4BRCATCGA-A8-A09E-01AIGF1Rchr15

99486281

+PRPS1chrX

106882525

+
ChimerDB4BRCATCGA-A8-A09E-01AIGF1Rchr15

99486281

-PRPS1chrX

106882525

+


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Fusion Gene ORF analysis for IGF1R-PRPS1

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
In-frameENST00000268035ENST00000372435IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
5CDS-5UTRENST00000268035ENST00000372428IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
5CDS-5UTRENST00000268035ENST00000372419IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
5CDS-5UTRENST00000268035ENST00000543248IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
5CDS-intronENST00000268035ENST00000372418IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
In-frameENST00000558762ENST00000372435IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
5CDS-5UTRENST00000558762ENST00000372428IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
5CDS-5UTRENST00000558762ENST00000372419IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
5CDS-5UTRENST00000558762ENST00000543248IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
5CDS-intronENST00000558762ENST00000372418IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
intron-3CDSENST00000560432ENST00000372435IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
intron-5UTRENST00000560432ENST00000372428IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
intron-5UTRENST00000560432ENST00000372419IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
intron-5UTRENST00000560432ENST00000543248IGF1Rchr15

99486281

+PRPS1chrX

106882525

+
intron-intronENST00000560432ENST00000372418IGF1Rchr15

99486281

+PRPS1chrX

106882525

+

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)
ENST00000268035IGF1Rchr1599486281+ENST00000372435PRPS1chrX106882525+6027419861150321473
ENST00000558762IGF1Rchr1599486281+ENST00000372435PRPS1chrX106882525+5951412253849561472

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
ENST00000268035ENST00000372435IGF1Rchr1599486281+PRPS1chrX106882525+0.0015384650.9984616
ENST00000558762ENST00000372435IGF1Rchr1599486281+PRPS1chrX106882525+0.0015835340.9984164

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Fusion Genomic Features for IGF1R-PRPS1


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)
IGF1Rchr1599486281+PRPS1chrX106882524+3.08E-070.99999964
IGF1Rchr1599486281+PRPS1chrX106882524+3.08E-070.99999964

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.

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.

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Fusion Protein Features for IGF1R-PRPS1


check button Go to

FGviewer for the breakpoints of chr15:99486281-chrX:106882525

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

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
HgeneIGF1Rchr15:99486281chrX:106882525ENST00000268035+1921491_6091195.66666666666671368.0DomainFibronectin type-III 1
HgeneIGF1Rchr15:99486281chrX:106882525ENST00000268035+1921610_7081195.66666666666671368.0DomainFibronectin type-III 2
HgeneIGF1Rchr15:99486281chrX:106882525ENST00000268035+1921735_8281195.66666666666671368.0DomainFibronectin type-III 3
HgeneIGF1Rchr15:99486281chrX:106882525ENST00000268035+1921834_9271195.66666666666671368.0DomainFibronectin type-III 4
HgeneIGF1Rchr15:99486281chrX:106882525ENST00000268035+1921977_9801195.66666666666671368.0MotifNote=IRS1- and SHC1-binding
HgeneIGF1Rchr15:99486281chrX:106882525ENST00000268035+19211005_10131195.66666666666671368.0Nucleotide bindingATP
HgeneIGF1Rchr15:99486281chrX:106882525ENST00000268035+1921741_9351195.66666666666671368.0Topological domainExtracellular
HgeneIGF1Rchr15:99486281chrX:106882525ENST00000268035+1921936_9591195.66666666666671368.0TransmembraneHelical
TgenePRPS1chr15:99486281chrX:106882525ENST000003724350796_10140.666666666666664319.0Nucleotide bindingNote=ATP
TgenePRPS1chr15:99486281chrX:106882525ENST000005432480896_10140.666666666666664312.3333333333333Nucleotide bindingNote=ATP
TgenePRPS1chr15:99486281chrX:106882525ENST0000037243507212_22740.666666666666664319.0RegionBinding of phosphoribosylpyrophosphate
TgenePRPS1chr15:99486281chrX:106882525ENST0000054324808212_22740.666666666666664312.3333333333333RegionBinding of phosphoribosylpyrophosphate

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneIGF1Rchr15:99486281chrX:106882525ENST00000268035+1921999_12741195.66666666666671368.0DomainProtein kinase
HgeneIGF1Rchr15:99486281chrX:106882525ENST00000268035+1921960_13671195.66666666666671368.0Topological domainCytoplasmic


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Fusion Gene Sequence for IGF1R-PRPS1


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.
>In-frame_ENST00000268035_ENST00000372435_TCGA-A8-A09E-01A_IGF1R_chr15_99486281_+_PRPS1_chrX_106882525_length(transcript)=6027nt_BP=4198nt
GGGAAGGAGCTCGCCGCGGCGGCGGCGGCGCTGAGGGAGGAGGCGGCGGCGAGCGGAGCCAGGAGGAGGAGGAGGAGGGGGAGCCGCTCA
TTCATTTTGACTCCGCGTTTCTGCCCCTCGCCGGCCTCGCCTGTGACCCGGACTTCGGGGCGATCTTGCGAACTGCGTCGCGCCCTCCCG
CGGCGGAAGCTCGGGCGTCCGGCCGCCTCCCGCGCGGCCAGGGCCGGGCTTGTTTTTCCTCGCCTAGGCAGATTTGGGCTTTGCCCCCTT
TCTTTGCAGTTTTCCCCCCTTCCTGCCTCTCCGGGTTTGAAAATGGAGGCCGACGACGCCGACAGCCCGCCCCGGCGCGCCTCGGGTTCC
CGACTCCGCCGAGCCCTGGGCCGCTGCTGCCGGCGCTGAGGGGCCGCCCCGCGCCGCCCGCCCCGTCCGCGCACCCGGAGGGCCCCGGCG
GCGCCGCCTTCGGAGTATTGTTTCCTTCGCCCTTGTTTTTGGAGGGGGAGCGAAGACTGAGTTTGAGACTTGTTTCCTTTCATTTCCTTT
TTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGGGGAATTTCATCCCAAATAAAAGGAATGAAGTCTGGCTCCGGAG
GAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAATCTGCGGGCCAGGCA
TCGACATCCGCAACGACTATCAGCAGCTGAAGCGCCTGGAGAACTGCACGGTGATCGAGGGCTACCTCCACATCCTGCTCATCTCCAAGG
CCGAGGACTACCGCAGCTACCGCTTCCCCAAGCTCACGGTCATTACCGAGTACTTGCTGCTGTTCCGAGTGGCTGGCCTCGAGAGCCTCG
GAGACCTCTTCCCCAACCTCACGGTCATCCGCGGCTGGAAACTCTTCTACAACTACGCCCTGGTCATCTTCGAGATGACCAATCTCAAGG
ATATTGGGCTTTACAACCTGAGGAACATTACTCGGGGGGCCATCAGGATTGAGAAAAATGCTGACCTCTGTTACCTCTCCACTGTGGACT
GGTCCCTGATCCTGGATGCGGTGTCCAATAACTACATTGTGGGGAATAAGCCCCCAAAGGAATGTGGGGACCTGTGTCCAGGGACCATGG
AGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAATGTGCCCAA
GCACGTGTGGGAAGCGGGCGTGCACCGAGAACAATGAGTGCTGCCACCCCGAGTGCCTGGGCAGCTGCAGCGCGCCTGACAACGACACGG
CCTGTGTAGCTTGCCGCCACTACTACTATGCCGGTGTCTGTGTGCCTGCCTGCCCGCCCAACACCTACAGGTTTGAGGGCTGGCGCTGTG
TGGACCGTGACTTCTGCGCCAACATCCTCAGCGCCGAGAGCAGCGACTCCGAGGGGTTTGTGATCCACGACGGCGAGTGCATGCAGGAGT
GCCCCTCGGGCTTCATCCGCAACGGCAGCCAGAGCATGTACTGCATCCCTTGTGAAGGTCCTTGCCCGAAGGTCTGTGAGGAAGAAAAGA
AAACAAAGACCATTGATTCTGTTACTTCTGCTCAGATGCTCCAAGGATGCACCATCTTCAAGGGCAATTTGCTCATTAACATCCGACGGG
GGAATAACATTGCTTCAGAGCTGGAGAACTTCATGGGGCTCATCGAGGTGGTGACGGGCTACGTGAAGATCCGCCATTCTCATGCCTTGG
TCTCCTTGTCCTTCCTAAAAAACCTTCGCCTCATCCTAGGAGAGGAGCAGCTAGAAGGGAATTACTCCTTCTACGTCCTCGACAACCAGA
ACTTGCAGCAACTGTGGGACTGGGACCACCGCAACCTGACCATCAAAGCAGGGAAAATGTACTTTGCTTTCAATCCCAAATTATGTGTTT
CCGAAATTTACCGCATGGAGGAAGTGACGGGGACTAAAGGGCGCCAAAGCAAAGGGGACATAAACACCAGGAACAACGGGGAGAGAGCCT
CCTGTGAAAGTGACGTCCTGCATTTCACCTCCACCACCACGTCGAAGAATCGCATCATCATAACCTGGCACCGGTACCGGCCCCCTGACT
ACAGGGATCTCATCAGCTTCACCGTTTACTACAAGGAAGCACCCTTTAAGAATGTCACAGAGTATGATGGGCAGGATGCCTGCGGCTCCA
ACAGCTGGAACATGGTGGACGTGGACCTCCCGCCCAACAAGGACGTGGAGCCCGGCATCTTACTACATGGGCTGAAGCCCTGGACTCAGT
ACGCCGTTTACGTCAAGGCTGTGACCCTCACCATGGTGGAGAACGACCATATCCGTGGGGCCAAGAGTGAGATCTTGTACATTCGCACCA
ATGCTTCAGTTCCTTCCATTCCCTTGGACGTTCTTTCAGCATCGAACTCCTCTTCTCAGTTAATCGTGAAGTGGAACCCTCCCTCTCTGC
CCAACGGCAACCTGAGTTACTACATTGTGCGCTGGCAGCGGCAGCCTCAGGACGGCTACCTTTACCGGCACAATTACTGCTCCAAAGACA
AAATCCCCATCAGGAAGTATGCCGACGGCACCATCGACATTGAGGAGGTCACAGAGAACCCCAAGACTGAGGTGTGTGGTGGGGAGAAAG
GGCCTTGCTGCGCCTGCCCCAAAACTGAAGCCGAGAAGCAGGCCGAGAAGGAGGAGGCTGAATACCGCAAAGTCTTTGAGAATTTCCTGC
ACAACTCCATCTTCGTGCCCAGACCTGAAAGGAAGCGGAGAGATGTCATGCAAGTGGCCAACACCACCATGTCCAGCCGAAGCAGGAACA
CCACGGCCGCAGACACCTACAACATCACCGACCCGGAAGAGCTGGAGACAGAGTACCCTTTCTTTGAGAGCAGAGTGGATAACAAGGAGA
GAACTGTCATTTCTAACCTTCGGCCTTTCACATTGTACCGCATCGATATCCACAGCTGCAACCACGAGGCTGAGAAGCTGGGCTGCAGCG
CCTCCAACTTCGTCTTTGCAAGGACTATGCCCGCAGAAGGAGCAGATGACATTCCTGGGCCAGTGACCTGGGAGCCAAGGCCTGAAAACT
CCATCTTTTTAAAGTGGCCGGAACCTGAGAATCCCAATGGATTGATTCTAATGTATGAAATAAAATACGGATCACAAGTTGAGGATCAGC
GAGAATGTGTGTCCAGACAGGAATACAGGAAGTATGGAGGGGCCAAGCTAAACCGGCTAAACCCGGGGAACTACACAGCCCGGATTCAGG
CCACATCTCTCTCTGGGAATGGGTCGTGGACAGATCCTGTGTTCTTCTATGTCCAGGCCAAAACAGGATATGAAAACTTCATCCATCTGA
TCATCGCTCTGCCCGTCGCTGTCCTGTTGATCGTGGGAGGGTTGGTGATTATGCTGTACGTCTTCCATAGAAAGAGAAATAACAGCAGGC
TGGGGAATGGAGTGCTGTATGCCTCTGTGAACCCGGAGTACTTCAGCGCTGCTGATGTGTACGTTCCTGATGAGTGGGAGGTGGCTCGGG
AGAAGATCACCATGAGCCGGGAACTTGGGCAGGGGTCGTTTGGGATGGTCTATGAAGGAGTTGCCAAGGGTGTGGTGAAAGATGAACCTG
AAACCAGAGTGGCCATTAAAACAGTGAACGAGGCCGCAAGCATGCGTGAGAGGATTGAGTTTCTCAACGAAGCTTCTGTGATGAAGGAGT
TCAATTGTCACCATGTGGTGCGATTGCTGGGTGTGGTGTCCCAAGGCCAGCCAACACTGGTCATCATGGAACTGATGACACGGGGCGATC
TCAAAAGTTATCTCCGGTCTCTGAGGCCAGAAATGGAGAATAATCCAGTCCTAGCACCTCCAAGCCTGAGCAAGATGATTCAGATGGCCG
GAGAGATTGCAGACGGCATGGCATACCTCAACGCCAATAAGTTCGTCCACAGAGACCTTGCTGCCCGGAATTGCATGGTAGCCGAAGATT
TCACAGTCAAAATCGGAGATTTTGGTATGACGCGAGATATCTATGAGACAGACTATTACCGGAAAGGAGGGAAAGGGCTGCTGCCCGTGC
GCTGGATGTCTCCTGAGTCCCTCAAGGATGGAGTCTTCACCACTTACTCGGACGTCTGTGTGGAAATTGGTGAAAGTGTACGTGGAGAGG
ATGTCTACATTGTTCAGAGTGGTTGTGGCGAAATCAATGACAATTTAATGGAGCTTTTGATCATGATTAATGCCTGCAAGATTGCTTCAG
CCAGCCGGGTTACTGCAGTCATCCCATGCTTCCCTTATGCCCGGCAGGATAAGAAAGATAAGAGCCGGGCGCCAATCTCAGCCAAGCTTG
TTGCAAATATGCTATCTGTAGCAGGTGCAGATCATATTATCACCATGGACCTACATGCTTCTCAAATTCAGGGCTTTTTTGATATCCCAG
TAGACAATTTGTATGCAGAGCCGGCTGTCCTAAAGTGGATAAGGGAGAATATCTCTGAGTGGAGGAACTGCACTATTGTCTCACCTGATG
CTGGTGGAGCTAAGAGAGTGACCTCCATTGCAGACAGGCTGAATGTGGACTTTGCCTTGATTCACAAAGAACGGAAGAAGGCCAATGAAG
TGGACCGCATGGTGCTTGTGGGAGATGTGAAGGATCGGGTGGCCATCCTTGTGGATGACATGGCTGACACTTGTGGCACAATCTGCCATG
CAGCTGACAAACTTCTCTCAGCTGGCGCCACCAGAGTTTATGCCATCTTGACTCATGGAATCTTCTCCGGTCCTGCTATTTCTCGCATCA
ACAACGCATGCTTTGAGGCAGTAGTAGTCACCAATACCATACCTCAGGAGGACAAGATGAAGCATTGCTCCAAAATACAGGTGATTGACA
TCTCTATGATCCTTGCAGAAGCCATCAGGAGAACTCACAATGGAGAATCCGTTTCTTACCTATTCAGCCATGTCCCTTTATAATAGAGTA
ACTTCTGAGGCTTTTTGAGAATAAAATCCACCCCACCCTTGTTTCCCCTTGGTATTTGATGACAAATTCAGCAGAAGACCCGGCTTGCTC
CAGTGTAGCTTTCTACATCCCACATCAGGTATATTAGAGCTTATCCGAACTGGGGAAAGACGGATTGAGATTAACTGCTGGGACCTCCTA
CCTGCATTATCTCATTCTGGCTTCCTTGATAATTCTGTGGGCCTTGCAGCTTTAACTATAGCTCAGCTGCTGCAAGATTTCAGACTTTTG
AGGATGTTGTGTGAGGGTGTTTGACTGTGACTGGGGAAGCTCAGACTACTTTGTATGTGAATGCTTCAGGGTTTTCTTTGTTGAGAACAA
CTAGCAACAAAGGCAACCCATGTGTGACCAGTTCTCCCCAAGGTCTATGCTAAATTATAGCAAGAGCCCTGGGCAACCCCAAACCTAGTC
CTGGTAGCTGAGCACCCTGTAAGGCAGGAGCAGGCAGCTCAGCTTGAGCAGACATTGGGTGGGGGGTGGGGGGTGGTTGAGGGGGGAGGC
AGCACAGTGCAGCAAATGTTTCTTGGGAGGAAGAAGCCTGATCCATCACCATCTGCTTGACTATGTAGCTTGGATTCTCCTTTGTACCTA
TCCCTTTCGATTTGGCTTTACCTTCATCTATCTTGATCCTTTCCTGGCCAAATATCCTCTTGGGCCCAAATGAACATTGTACCATAGTCT
TCTGGAAAGCAAACATGCTTCCTGCTATGTAATTGCTAACATTCATATTAGATGATGTGCTGTAGCTTGATCTTCCTTAGCCTACTGCCA
CTGAGGCAGTAGGTTTTAGGTGGTATCGTAGTGCCTTTTGATTAATTTAAGTATTTAATTTTCATCTTCCTTCTTTGGATCTATTTGGCC

>In-frame_ENST00000268035_ENST00000372435_TCGA-A8-A09E-01A_IGF1R_chr15_99486281_+_PRPS1_chrX_106882525_length(amino acids)=1473AA_start in transcript=611_stop in transcript=5032
MKSGSGGGSPTSLWGLLFLSAALSLWPTSGEICGPGIDIRNDYQQLKRLENCTVIEGYLHILLISKAEDYRSYRFPKLTVITEYLLLFRV
AGLESLGDLFPNLTVIRGWKLFYNYALVIFEMTNLKDIGLYNLRNITRGAIRIEKNADLCYLSTVDWSLILDAVSNNYIVGNKPPKECGD
LCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQKMCPSTCGKRACTENNECCHPECLGSCSAPDNDTACVACRHYYYAGVCVPACPPNTYR
FEGWRCVDRDFCANILSAESSDSEGFVIHDGECMQECPSGFIRNGSQSMYCIPCEGPCPKVCEEEKKTKTIDSVTSAQMLQGCTIFKGNL
LINIRRGNNIASELENFMGLIEVVTGYVKIRHSHALVSLSFLKNLRLILGEEQLEGNYSFYVLDNQNLQQLWDWDHRNLTIKAGKMYFAF
NPKLCVSEIYRMEEVTGTKGRQSKGDINTRNNGERASCESDVLHFTSTTTSKNRIIITWHRYRPPDYRDLISFTVYYKEAPFKNVTEYDG
QDACGSNSWNMVDVDLPPNKDVEPGILLHGLKPWTQYAVYVKAVTLTMVENDHIRGAKSEILYIRTNASVPSIPLDVLSASNSSSQLIVK
WNPPSLPNGNLSYYIVRWQRQPQDGYLYRHNYCSKDKIPIRKYADGTIDIEEVTENPKTEVCGGEKGPCCACPKTEAEKQAEKEEAEYRK
VFENFLHNSIFVPRPERKRRDVMQVANTTMSSRSRNTTAADTYNITDPEELETEYPFFESRVDNKERTVISNLRPFTLYRIDIHSCNHEA
EKLGCSASNFVFARTMPAEGADDIPGPVTWEPRPENSIFLKWPEPENPNGLILMYEIKYGSQVEDQRECVSRQEYRKYGGAKLNRLNPGN
YTARIQATSLSGNGSWTDPVFFYVQAKTGYENFIHLIIALPVAVLLIVGGLVIMLYVFHRKRNNSRLGNGVLYASVNPEYFSAADVYVPD
EWEVAREKITMSRELGQGSFGMVYEGVAKGVVKDEPETRVAIKTVNEAASMRERIEFLNEASVMKEFNCHHVVRLLGVVSQGQPTLVIME
LMTRGDLKSYLRSLRPEMENNPVLAPPSLSKMIQMAGEIADGMAYLNANKFVHRDLAARNCMVAEDFTVKIGDFGMTRDIYETDYYRKGG
KGLLPVRWMSPESLKDGVFTTYSDVCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRA
PISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKE
RKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCS

--------------------------------------------------------------
>In-frame_ENST00000558762_ENST00000372435_TCGA-A8-A09E-01A_IGF1R_chr15_99486281_+_PRPS1_chrX_106882525_length(transcript)=5951nt_BP=4122nt
GGAGGGGGAGCCGCTCATTCATTTTGACTCCGCGTTTCTGCCCCTCGCCGGCCTCGCCTGTGACCCGGACTTCGGGGCGATCTTGCGAAC
TGCGTCGCGCCCTCCCGCGGCGGAAGCTCGGGCGTCCGGCCGCCTCCCGCGCGGCCAGGGCCGGGCTTGTTTTTCCTCGCCTAGGCAGAT
TTGGGCTTTGCCCCCTTTCTTTGCAGTTTTCCCCCCTTCCTGCCTCTCCGGGTTTGAAAATGGAGGCCGACGACGCCGACAGCCCGCCCC
GGCGCGCCTCGGGTTCCCGACTCCGCCGAGCCCTGGGCCGCTGCTGCCGGCGCTGAGGGGCCGCCCCGCGCCGCCCGCCCCGTCCGCGCA
CCCGGAGGGCCCCGGCGGCGCCGCCTTCGGAGTATTGTTTCCTTCGCCCTTGTTTTTGGAGGGGGAGCGAAGACTGAGTTTGAGACTTGT
TTCCTTTCATTTCCTTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGGGGAATTTCATCCCAAATAAAAGGAAT
GAAGTCTGGCTCCGGAGGAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGA
AATCTGCGGGCCAGGCATCGACATCCGCAACGACTATCAGCAGCTGAAGCGCCTGGAGAACTGCACGGTGATCGAGGGCTACCTCCACAT
CCTGCTCATCTCCAAGGCCGAGGACTACCGCAGCTACCGCTTCCCCAAGCTCACGGTCATTACCGAGTACTTGCTGCTGTTCCGAGTGGC
TGGCCTCGAGAGCCTCGGAGACCTCTTCCCCAACCTCACGGTCATCCGCGGCTGGAAACTCTTCTACAACTACGCCCTGGTCATCTTCGA
GATGACCAATCTCAAGGATATTGGGCTTTACAACCTGAGGAACATTACTCGGGGGGCCATCAGGATTGAGAAAAATGCTGACCTCTGTTA
CCTCTCCACTGTGGACTGGTCCCTGATCCTGGATGCGGTGTCCAATAACTACATTGTGGGGAATAAGCCCCCAAAGGAATGTGGGGACCT
GTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTG
CCAGAAAATGTGCCCAAGCACGTGTGGGAAGCGGGCGTGCACCGAGAACAATGAGTGCTGCCACCCCGAGTGCCTGGGCAGCTGCAGCGC
GCCTGACAACGACACGGCCTGTGTAGCTTGCCGCCACTACTACTATGCCGGTGTCTGTGTGCCTGCCTGCCCGCCCAACACCTACAGGTT
TGAGGGCTGGCGCTGTGTGGACCGTGACTTCTGCGCCAACATCCTCAGCGCCGAGAGCAGCGACTCCGAGGGGTTTGTGATCCACGACGG
CGAGTGCATGCAGGAGTGCCCCTCGGGCTTCATCCGCAACGGCAGCCAGAGCATGTACTGCATCCCTTGTGAAGGTCCTTGCCCGAAGGT
CTGTGAGGAAGAAAAGAAAACAAAGACCATTGATTCTGTTACTTCTGCTCAGATGCTCCAAGGATGCACCATCTTCAAGGGCAATTTGCT
CATTAACATCCGACGGGGGAATAACATTGCTTCAGAGCTGGAGAACTTCATGGGGCTCATCGAGGTGGTGACGGGCTACGTGAAGATCCG
CCATTCTCATGCCTTGGTCTCCTTGTCCTTCCTAAAAAACCTTCGCCTCATCCTAGGAGAGGAGCAGCTAGAAGGGAATTACTCCTTCTA
CGTCCTCGACAACCAGAACTTGCAGCAACTGTGGGACTGGGACCACCGCAACCTGACCATCAAAGCAGGGAAAATGTACTTTGCTTTCAA
TCCCAAATTATGTGTTTCCGAAATTTACCGCATGGAGGAAGTGACGGGGACTAAAGGGCGCCAAAGCAAAGGGGACATAAACACCAGGAA
CAACGGGGAGAGAGCCTCCTGTGAAAGTGACGTCCTGCATTTCACCTCCACCACCACGTCGAAGAATCGCATCATCATAACCTGGCACCG
GTACCGGCCCCCTGACTACAGGGATCTCATCAGCTTCACCGTTTACTACAAGGAAGCACCCTTTAAGAATGTCACAGAGTATGATGGGCA
GGATGCCTGCGGCTCCAACAGCTGGAACATGGTGGACGTGGACCTCCCGCCCAACAAGGACGTGGAGCCCGGCATCTTACTACATGGGCT
GAAGCCCTGGACTCAGTACGCCGTTTACGTCAAGGCTGTGACCCTCACCATGGTGGAGAACGACCATATCCGTGGGGCCAAGAGTGAGAT
CTTGTACATTCGCACCAATGCTTCAGTTCCTTCCATTCCCTTGGACGTTCTTTCAGCATCGAACTCCTCTTCTCAGTTAATCGTGAAGTG
GAACCCTCCCTCTCTGCCCAACGGCAACCTGAGTTACTACATTGTGCGCTGGCAGCGGCAGCCTCAGGACGGCTACCTTTACCGGCACAA
TTACTGCTCCAAAGACAAAATCCCCATCAGGAAGTATGCCGACGGCACCATCGACATTGAGGAGGTCACAGAGAACCCCAAGACTGAGGT
GTGTGGTGGGGAGAAAGGGCCTTGCTGCGCCTGCCCCAAAACTGAAGCCGAGAAGCAGGCCGAGAAGGAGGAGGCTGAATACCGCAAAGT
CTTTGAGAATTTCCTGCACAACTCCATCTTCGTGCCCAGACCTGAAAGGAAGCGGAGAGATGTCATGCAAGTGGCCAACACCACCATGTC
CAGCCGAAGCAGGAACACCACGGCCGCAGACACCTACAACATCACCGACCCGGAAGAGCTGGAGACAGAGTACCCTTTCTTTGAGAGCAG
AGTGGATAACAAGGAGAGAACTGTCATTTCTAACCTTCGGCCTTTCACATTGTACCGCATCGATATCCACAGCTGCAACCACGAGGCTGA
GAAGCTGGGCTGCAGCGCCTCCAACTTCGTCTTTGCAAGGACTATGCCCGCAGAAGGAGCAGATGACATTCCTGGGCCAGTGACCTGGGA
GCCAAGGCCTGAAAACTCCATCTTTTTAAAGTGGCCGGAACCTGAGAATCCCAATGGATTGATTCTAATGTATGAAATAAAATACGGATC
ACAAGTTGAGGATCAGCGAGAATGTGTGTCCAGACAGGAATACAGGAAGTATGGAGGGGCCAAGCTAAACCGGCTAAACCCGGGGAACTA
CACAGCCCGGATTCAGGCCACATCTCTCTCTGGGAATGGGTCGTGGACAGATCCTGTGTTCTTCTATGTCCAGGCCAAAAGATATGAAAA
CTTCATCCATCTGATCATCGCTCTGCCCGTCGCTGTCCTGTTGATCGTGGGAGGGTTGGTGATTATGCTGTACGTCTTCCATAGAAAGAG
AAATAACAGCAGGCTGGGGAATGGAGTGCTGTATGCCTCTGTGAACCCGGAGTACTTCAGCGCTGCTGATGTGTACGTTCCTGATGAGTG
GGAGGTGGCTCGGGAGAAGATCACCATGAGCCGGGAACTTGGGCAGGGGTCGTTTGGGATGGTCTATGAAGGAGTTGCCAAGGGTGTGGT
GAAAGATGAACCTGAAACCAGAGTGGCCATTAAAACAGTGAACGAGGCCGCAAGCATGCGTGAGAGGATTGAGTTTCTCAACGAAGCTTC
TGTGATGAAGGAGTTCAATTGTCACCATGTGGTGCGATTGCTGGGTGTGGTGTCCCAAGGCCAGCCAACACTGGTCATCATGGAACTGAT
GACACGGGGCGATCTCAAAAGTTATCTCCGGTCTCTGAGGCCAGAAATGGAGAATAATCCAGTCCTAGCACCTCCAAGCCTGAGCAAGAT
GATTCAGATGGCCGGAGAGATTGCAGACGGCATGGCATACCTCAACGCCAATAAGTTCGTCCACAGAGACCTTGCTGCCCGGAATTGCAT
GGTAGCCGAAGATTTCACAGTCAAAATCGGAGATTTTGGTATGACGCGAGATATCTATGAGACAGACTATTACCGGAAAGGAGGGAAAGG
GCTGCTGCCCGTGCGCTGGATGTCTCCTGAGTCCCTCAAGGATGGAGTCTTCACCACTTACTCGGACGTCTGTGTGGAAATTGGTGAAAG
TGTACGTGGAGAGGATGTCTACATTGTTCAGAGTGGTTGTGGCGAAATCAATGACAATTTAATGGAGCTTTTGATCATGATTAATGCCTG
CAAGATTGCTTCAGCCAGCCGGGTTACTGCAGTCATCCCATGCTTCCCTTATGCCCGGCAGGATAAGAAAGATAAGAGCCGGGCGCCAAT
CTCAGCCAAGCTTGTTGCAAATATGCTATCTGTAGCAGGTGCAGATCATATTATCACCATGGACCTACATGCTTCTCAAATTCAGGGCTT
TTTTGATATCCCAGTAGACAATTTGTATGCAGAGCCGGCTGTCCTAAAGTGGATAAGGGAGAATATCTCTGAGTGGAGGAACTGCACTAT
TGTCTCACCTGATGCTGGTGGAGCTAAGAGAGTGACCTCCATTGCAGACAGGCTGAATGTGGACTTTGCCTTGATTCACAAAGAACGGAA
GAAGGCCAATGAAGTGGACCGCATGGTGCTTGTGGGAGATGTGAAGGATCGGGTGGCCATCCTTGTGGATGACATGGCTGACACTTGTGG
CACAATCTGCCATGCAGCTGACAAACTTCTCTCAGCTGGCGCCACCAGAGTTTATGCCATCTTGACTCATGGAATCTTCTCCGGTCCTGC
TATTTCTCGCATCAACAACGCATGCTTTGAGGCAGTAGTAGTCACCAATACCATACCTCAGGAGGACAAGATGAAGCATTGCTCCAAAAT
ACAGGTGATTGACATCTCTATGATCCTTGCAGAAGCCATCAGGAGAACTCACAATGGAGAATCCGTTTCTTACCTATTCAGCCATGTCCC
TTTATAATAGAGTAACTTCTGAGGCTTTTTGAGAATAAAATCCACCCCACCCTTGTTTCCCCTTGGTATTTGATGACAAATTCAGCAGAA
GACCCGGCTTGCTCCAGTGTAGCTTTCTACATCCCACATCAGGTATATTAGAGCTTATCCGAACTGGGGAAAGACGGATTGAGATTAACT
GCTGGGACCTCCTACCTGCATTATCTCATTCTGGCTTCCTTGATAATTCTGTGGGCCTTGCAGCTTTAACTATAGCTCAGCTGCTGCAAG
ATTTCAGACTTTTGAGGATGTTGTGTGAGGGTGTTTGACTGTGACTGGGGAAGCTCAGACTACTTTGTATGTGAATGCTTCAGGGTTTTC
TTTGTTGAGAACAACTAGCAACAAAGGCAACCCATGTGTGACCAGTTCTCCCCAAGGTCTATGCTAAATTATAGCAAGAGCCCTGGGCAA
CCCCAAACCTAGTCCTGGTAGCTGAGCACCCTGTAAGGCAGGAGCAGGCAGCTCAGCTTGAGCAGACATTGGGTGGGGGGTGGGGGGTGG
TTGAGGGGGGAGGCAGCACAGTGCAGCAAATGTTTCTTGGGAGGAAGAAGCCTGATCCATCACCATCTGCTTGACTATGTAGCTTGGATT
CTCCTTTGTACCTATCCCTTTCGATTTGGCTTTACCTTCATCTATCTTGATCCTTTCCTGGCCAAATATCCTCTTGGGCCCAAATGAACA
TTGTACCATAGTCTTCTGGAAAGCAAACATGCTTCCTGCTATGTAATTGCTAACATTCATATTAGATGATGTGCTGTAGCTTGATCTTCC
TTAGCCTACTGCCACTGAGGCAGTAGGTTTTAGGTGGTATCGTAGTGCCTTTTGATTAATTTAAGTATTTAATTTTCATCTTCCTTCTTT
GGATCTATTTGGCCTCTCAAATGAACTGAGATTCCTGTTAAAAAAGATTGATGTTATTGTCTCTTGTAGAGGAAACTAATAAAGTGTGTG

>In-frame_ENST00000558762_ENST00000372435_TCGA-A8-A09E-01A_IGF1R_chr15_99486281_+_PRPS1_chrX_106882525_length(amino acids)=1472AA_start in transcript=538_stop in transcript=4956
MKSGSGGGSPTSLWGLLFLSAALSLWPTSGEICGPGIDIRNDYQQLKRLENCTVIEGYLHILLISKAEDYRSYRFPKLTVITEYLLLFRV
AGLESLGDLFPNLTVIRGWKLFYNYALVIFEMTNLKDIGLYNLRNITRGAIRIEKNADLCYLSTVDWSLILDAVSNNYIVGNKPPKECGD
LCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQKMCPSTCGKRACTENNECCHPECLGSCSAPDNDTACVACRHYYYAGVCVPACPPNTYR
FEGWRCVDRDFCANILSAESSDSEGFVIHDGECMQECPSGFIRNGSQSMYCIPCEGPCPKVCEEEKKTKTIDSVTSAQMLQGCTIFKGNL
LINIRRGNNIASELENFMGLIEVVTGYVKIRHSHALVSLSFLKNLRLILGEEQLEGNYSFYVLDNQNLQQLWDWDHRNLTIKAGKMYFAF
NPKLCVSEIYRMEEVTGTKGRQSKGDINTRNNGERASCESDVLHFTSTTTSKNRIIITWHRYRPPDYRDLISFTVYYKEAPFKNVTEYDG
QDACGSNSWNMVDVDLPPNKDVEPGILLHGLKPWTQYAVYVKAVTLTMVENDHIRGAKSEILYIRTNASVPSIPLDVLSASNSSSQLIVK
WNPPSLPNGNLSYYIVRWQRQPQDGYLYRHNYCSKDKIPIRKYADGTIDIEEVTENPKTEVCGGEKGPCCACPKTEAEKQAEKEEAEYRK
VFENFLHNSIFVPRPERKRRDVMQVANTTMSSRSRNTTAADTYNITDPEELETEYPFFESRVDNKERTVISNLRPFTLYRIDIHSCNHEA
EKLGCSASNFVFARTMPAEGADDIPGPVTWEPRPENSIFLKWPEPENPNGLILMYEIKYGSQVEDQRECVSRQEYRKYGGAKLNRLNPGN
YTARIQATSLSGNGSWTDPVFFYVQAKRYENFIHLIIALPVAVLLIVGGLVIMLYVFHRKRNNSRLGNGVLYASVNPEYFSAADVYVPDE
WEVAREKITMSRELGQGSFGMVYEGVAKGVVKDEPETRVAIKTVNEAASMRERIEFLNEASVMKEFNCHHVVRLLGVVSQGQPTLVIMEL
MTRGDLKSYLRSLRPEMENNPVLAPPSLSKMIQMAGEIADGMAYLNANKFVHRDLAARNCMVAEDFTVKIGDFGMTRDIYETDYYRKGGK
GLLPVRWMSPESLKDGVFTTYSDVCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAP
ISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKER
KKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSK

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Fusion Gene PPI Analysis for IGF1R-PRPS1


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 IGF1R-PRPS1


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

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Related Diseases for IGF1R-PRPS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIGF1RC1849157Resistance to Insulin-Like Growth Factor I5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneIGF1RC0004238Atrial Fibrillation2CTD_human
HgeneIGF1RC0024115Lung diseases2CTD_human
HgeneIGF1RC0235480Paroxysmal atrial fibrillation2CTD_human
HgeneIGF1RC0235833Congenital diaphragmatic hernia2CTD_human
HgeneIGF1RC0265699Congenital hernia of foramen of Morgagni2CTD_human
HgeneIGF1RC0265700Congenital hernia of foramen of Bochdalek2CTD_human
HgeneIGF1RC2239176Liver carcinoma2CTD_human
HgeneIGF1RC2585653Persistent atrial fibrillation2CTD_human
HgeneIGF1RC3468561familial atrial fibrillation2CTD_human
HgeneIGF1RC0002395Alzheimer's Disease1CTD_human
HgeneIGF1RC0006142Malignant neoplasm of breast1CTD_human
HgeneIGF1RC0007114Malignant neoplasm of skin1CTD_human
HgeneIGF1RC0007621Neoplastic Cell Transformation1CTD_human
HgeneIGF1RC0011265Presenile dementia1CTD_human
HgeneIGF1RC0014170Endometrial Neoplasms1CTD_human
HgeneIGF1RC0015934Fetal Growth Retardation1CTD_human
HgeneIGF1RC0018273Growth Disorders1CTD_human
HgeneIGF1RC0030567Parkinson Disease1CTD_human
HgeneIGF1RC0035229Respiratory Insufficiency1CTD_human
HgeneIGF1RC0037286Skin Neoplasms1CTD_human
HgeneIGF1RC0087031Juvenile-Onset Still Disease1CTD_human
HgeneIGF1RC0206686Adrenocortical carcinoma1CTD_human
HgeneIGF1RC0235063Respiratory Depression1CTD_human
HgeneIGF1RC0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneIGF1RC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
HgeneIGF1RC0476089Endometrial Carcinoma1CTD_human
HgeneIGF1RC0494463Alzheimer Disease, Late Onset1CTD_human
HgeneIGF1RC0546126Acute Confusional Senile Dementia1CTD_human
HgeneIGF1RC0557874Global developmental delay1GENOMICS_ENGLAND
HgeneIGF1RC0678222Breast Carcinoma1CTD_human
HgeneIGF1RC0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneIGF1RC0750901Alzheimer Disease, Early Onset1CTD_human
HgeneIGF1RC0752347Lewy Body Disease1CTD_human
HgeneIGF1RC1145670Respiratory Failure1CTD_human
HgeneIGF1RC1257931Mammary Neoplasms, Human1CTD_human
HgeneIGF1RC1458155Mammary Neoplasms1CTD_human
HgeneIGF1RC3495559Juvenile arthritis1CTD_human
HgeneIGF1RC3714758Juvenile psoriatic arthritis1CTD_human
HgeneIGF1RC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneIGF1RC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
HgeneIGF1RC4704874Mammary Carcinoma, Human1CTD_human
HgeneIGF1RC4721453Peripheral Nervous System Diseases1CTD_human
TgenePRPS1C1970827Phosphoribosylpyrophosphate Synthetase Superactivity11CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePRPS1C1839566CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 56CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePRPS1C0796028ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePRPS1C1844677DEAFNESS, X-LINKED 1 (disorder)5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePRPS1C0043094Weight Gain1CTD_human
TgenePRPS1C0854723Retinal Dystrophies1GENOMICS_ENGLAND
TgenePRPS1C1384666hearing impairment1GENOMICS_ENGLAND