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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:C1orf27-EGLN1 (FusionGDB2 ID:11409)

Fusion Gene Summary for C1orf27-EGLN1

check button Fusion gene summary
Fusion gene informationFusion gene name: C1orf27-EGLN1
Fusion gene ID: 11409
HgeneTgene
Gene symbol

C1orf27

EGLN1

Gene ID

54953

54583

Gene nameodr-4 GPCR localization factor homologegl-9 family hypoxia inducible factor 1
SynonymsC1orf27|TTG1|odr-4C1orf12|ECYT3|HALAH|HIF-PH2|HIFPH2|HPH-2|HPH2|PHD2|SM20|ZMYND6
Cytomap

1q31.1

1q42.2

Type of geneprotein-codingprotein-coding
Descriptionprotein odr-4 homologLAG1-interacting proteinodorant response abnormal 4transactivated by recombinant transforming growth factor betatransactivated by recombinant transforming growth factor beta 1transactivated by transforming growth factor beta protegl nine homolog 1HIF-prolyl hydroxylase 2egl nine-like protein 1hypoxia-inducible factor prolyl hydroxylase 2prolyl hydroxylase domain-containing protein 2zinc finger MYND domain-containing protein 6
Modification date2020031320200313
UniProtAcc.

Q9GZT9

Ensembl transtripts involved in fusion geneENST00000367470, ENST00000419367, 
ENST00000287859, ENST00000432021, 
ENST00000461662, 		ENST00000366641, 
ENST00000476717, 
Fusion gene scores* DoF score3 X 4 X 2=247 X 4 X 5=140
# samples 37
** MAII scorelog2(3/24*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C1orf27 [Title/Abstract] AND EGLN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC1orf27(186352288)-EGLN1(231509845), # 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
TgeneEGLN1

GO:0001666

response to hypoxia

16956324

TgeneEGLN1

GO:0018401

peptidyl-proline hydroxylation to 4-hydroxy-L-proline

11598268

TgeneEGLN1

GO:0032364

oxygen homeostasis

16956324

TgeneEGLN1

GO:0043433

negative regulation of DNA-binding transcription factor activity

16956324

TgeneEGLN1

GO:0071731

response to nitric oxide

21601578


check buttonFusion gene breakpoints across C1orf27 (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 EGLN1 (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
ChimerDB4STADTCGA-BR-6458-01AC1orf27chr1

186352288

+EGLN1chr1

231509845

-
ChimerDB4STADTCGA-BR-6458C1orf27chr1

186352288

+EGLN1chr1

231509845

-


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Fusion Gene ORF analysis for C1orf27-EGLN1

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-frameENST00000367470ENST00000366641C1orf27chr1

186352288

+EGLN1chr1

231509845

-
5CDS-5UTRENST00000367470ENST00000476717C1orf27chr1

186352288

+EGLN1chr1

231509845

-
In-frameENST00000419367ENST00000366641C1orf27chr1

186352288

+EGLN1chr1

231509845

-
5CDS-5UTRENST00000419367ENST00000476717C1orf27chr1

186352288

+EGLN1chr1

231509845

-
In-frameENST00000287859ENST00000366641C1orf27chr1

186352288

+EGLN1chr1

231509845

-
5CDS-5UTRENST00000287859ENST00000476717C1orf27chr1

186352288

+EGLN1chr1

231509845

-
In-frameENST00000432021ENST00000366641C1orf27chr1

186352288

+EGLN1chr1

231509845

-
5CDS-5UTRENST00000432021ENST00000476717C1orf27chr1

186352288

+EGLN1chr1

231509845

-
intron-3CDSENST00000461662ENST00000366641C1orf27chr1

186352288

+EGLN1chr1

231509845

-
intron-5UTRENST00000461662ENST00000476717C1orf27chr1

186352288

+EGLN1chr1

231509845

-

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)
ENST00000367470C1orf27chr1186352288+ENST00000366641EGLN1chr1231509845-3520470236859207
ENST00000419367C1orf27chr1186352288+ENST00000366641EGLN1chr1231509845-3455405171794207
ENST00000287859C1orf27chr1186352288+ENST00000366641EGLN1chr1231509845-3409359125748207
ENST00000432021C1orf27chr1186352288+ENST00000366641EGLN1chr1231509845-32842340623207

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
ENST00000367470ENST00000366641C1orf27chr1186352288+EGLN1chr1231509845-0.0003164060.9996836
ENST00000419367ENST00000366641C1orf27chr1186352288+EGLN1chr1231509845-0.0003005130.9996995
ENST00000287859ENST00000366641C1orf27chr1186352288+EGLN1chr1231509845-0.0002915680.99970835
ENST00000432021ENST00000366641C1orf27chr1186352288+EGLN1chr1231509845-0.0002707720.9997292

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Fusion Genomic Features for C1orf27-EGLN1


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)

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 C1orf27-EGLN1


check button Go to

FGviewer for the breakpoints of chr1:186352288-chr1:231509845

.
- 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
.EGLN1

Q9GZT9

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: Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN1 is the most important isozyme under normoxia and, through regulating the stability of HIF1, involved in various hypoxia-influenced processes such as angiogenesis in retinal and cardiac functionality. Target proteins are preferentially recognized via a LXXLAP motif. {ECO:0000269|PubMed:11595184, ECO:0000269|PubMed:12181324, ECO:0000269|PubMed:12351678, ECO:0000269|PubMed:15897452, ECO:0000269|PubMed:19339211, ECO:0000269|PubMed:21792862, ECO:0000269|PubMed:25129147}.

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
HgeneC1orf27chr1:186352288chr1:231509845ENST00000287859+314432_45278.0455.0TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000287859+31482_10278.0455.0TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000367470+313432_45278.0432.0TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000367470+31382_10278.0432.0TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000419367+313432_45278.0423.0TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000419367+31382_10278.0423.0TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000432021+212432_45278.0432.0TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000432021+21282_10278.0432.0TransmembraneHelical
TgeneEGLN1chr1:186352288chr1:231509845ENST0000036664105291_392297.0427.0DomainFe2OG dioxygenase
TgeneEGLN1chr1:186352288chr1:231509845ENST0000036664105241_251297.0427.0RegionBeta(2)beta(3) 'finger-like' loop
TgeneEGLN1chr1:186352288chr1:231509845ENST00000366641056_20297.0427.0RegionNote=Required for nuclear export
TgeneEGLN1chr1:186352288chr1:231509845ENST000003666410521_58297.0427.0Zinc fingerMYND-type


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Fusion Gene Sequence for C1orf27-EGLN1


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_ENST00000367470_ENST00000366641_TCGA-BR-6458-01A_C1orf27_chr1_186352288_+_EGLN1_chr1_231509845_length(transcript)=3520nt_BP=470nt
CGTCATCAATCTGCGCCACCTGACTCCCAAGTCCCTGGCTTTGGAGTGGGAAGTGAGGTGTGGGAAGTAGGTCGCTTTCTGATGAATTCA
GTGGCAGTGAATTGAGACCGGAGGGAATCTGGCCCCTAGAGGCTGGTACTTGGGCCCGAAACCCCCATCTCCGGCGGAGAGACCGTCCGA
GGTAATTGTCTGCCACGAGTGCACATTCTGAAAACAGGAGATTTTAGTTCCTAAAAATGGGAAGAACCTACATTGTAGAAGAGACTGTTG
GCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTAATAGGACAGTGTTCGTCACAAAAGGATTATGTGA
TTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCCAAAGCTAAGTTGGATAACTTGGATGAAGAATGGG
CCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGTTATGTACGTCATGTTGATAATCCAAATGGAGATG
GAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGTGGAGGTATACTTCGAATTTTTCCAGAAGGCAAAG
CCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGACCGTCGCAACCCTCATGAAGTACAACCAGCATATG
CTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCTAAAGTAAAATATCTAACAGGTGAAAAAGGTGTGA
GGGTTGAACTCAATAAACCTTCAGATTCGGTCGGTAAAGACGTCTTCTAGAGCCTTTGATCCAGCAATACCCCACTTCACCTACAATATT
GTTAACTATTTGTTAACTTGTGAATACGAATAAATGGGATAAAGAAAAATAGACAACCAGTTCGCATTTTAATAAGGAAACAGAAACAAC
TTTTTGTGTTGCATCAAACAGAAGATTTTGACTGCTGTGACTTTGTACTGCATGATCAACTTCAAATCTGTGATTGCTTACAGGAGGAAG
ATAAGCTACTAATTGAAAATGGTTTTTACATCTGGATATGAAATAAGTGCCCTGTGTAGAATTTTTTTCATTCTTATATTTTGCCAGATC
TGTTATCTAGCTGAGTTCATTTCATCTCTCCCTTTTTTATATCAAGTTTGAATTTGGGATAATTTTTCTATATTAGGTACAATTTATCTA
AACTGAATTGAGAAAAAATTACAGTATTATTCCTCAAAATAACATCAATCTATTTTTGTAAACCTGTTCATACTATTAAATTTTGCCCTA
AAAGACCTCTTAATAATGATTGTTGCCAGTGACTGATGATTAATTTTATTTTACTTAAAATAAGAAAAGGAGCACTTTAATTACAACTGA
AAAATCAGATTGTTTTGTAGTCCTTCCTTACACTAATTTGAACTGTTAAAGATTGCTGCTTTTTTTTTGACATTGTCAATAACGAAACCT
AATTGTAAAACAGTCACCATTTACTACCAATAACTTTTAGTTAATGTTTTACAAGGAAAAAGACACAAGAAGAGTTTAAATTTTTTTGTT
TTGTTTTGTTTTTTTGAGACAGTCTTGCTCTGTTACCCAGGCTGGAGGGGAGTGGTGCATTCTTGGCTCACTGCAACCTCCGCCTCCCAG
GTTCAAGCAATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACTGCAGGCACACACCACCATGCCTGACTAATTTTTGTATGTTTAGTAG
AGACGGGGTTTTGCCATGTTGCCTAGGCTGGGGTTTAAGTTAAATTTTTTAAAAAACTAAAGTGACTGGCACTAAGTGAACTTGAGATTA
TCCTCAGCTTCAAGTTCCTAAGATAAGGGCTTTCTTAAGCTTTCAGGTGTATGTATCCTCTAGATGTAGACAATAATGTCCCATTTCTAA
GTCTTTTCCTTTTGCTTCTCCTTAAATTGATTGTACTTCCAAATTTGCTGTTATGTTTTTTTCCTAATACTGTGATCTATCTGATCTGCA
GACAAGAACCTTGTCTCTGTTGAAGAGCATCAAGGGGAGATTATGTACACATTGAAACTGAAGTGTGGTGTTACTGACGGAATGTGCAGT
AACTCCTCAGATATCTGTTAAGGCATTTCCCAGATGTGATGCCAGCCTTCTTACCTGTACTGAAAGATGCTTAGCTTAGAAAAAAACAAA
ACAGATGCAAAATCAGATAATTTTATTTTGTTTCATGGGTTTTCTTATTTACTTTTTAAACAAGGAAGGAATATTAGAAAATCACACAAG
GCCTCACATACATGTTATTTAAAGAATGAATTGGGACGGATGTCTTAGACTTCACTTTCCTAGGCTTTTTAGCAAAACCTAAAGGGTGGT
ATCCATATTTTGCGTGAATTATGGGTGTAAGACCTTGCCCACTTAGGTTTTCTATCTCTGTCCTTGATCTTCTTTGCCAAAATGTGAGTA
TACAGAAATTTTCTGTATATTTCAACTTAAGACATTTTTAGCATCTGTATAGTTTGTATTCAATTTGAGACCTTTTCTATGGGAAGCTCA
GTAATTTTTATTAAAAGATTGCCATTGCTATTCATGTAAAACATGGAAAAAAATTGTGTAGTGAAGCCAACAGTGGACTTAGGATGGGAT
TGAATGTTCAGTATAGTGATCTCACTTAGGAGAATTTGCAGGAGAAAGTGATAGTTTATTGTTTTTTCCTCGCCCATATTCAGTTTTGTT
CTACTTCCTCCCCTTCCTTCCAGATGATAACATCACATCTCTACAGTAAGTGCCTCTGCCAGCCCAACCCAGGAGCGCAAGTTGTCTTTG
CCATCTGGTCTATAGTACAGTGCGCGGCGTTAGGCCACAACTCAAAAGCATTATCTTTTTTAGGGTTAGTAGAAATTGTTTTATGTTGAT
GGGAGGTTTGTTTGATTGTCAAAATGTACAGCCACAGCCTTTTAATTTGGGAGCCCCTGTTGTCATTCAAATGTGTACCTCTACAGTTGT
AAAAAGTATTAGATTCTACTATCTGTGGGTTGTGCTTGCCAGACAGGTCTTAAATTGTATATTTTTTGGAAAAGTTTATATACTCTCTTA
GGAATCATTGTGAAAAGATCAAGAAATCAGGATGGCCATTTATTTAATATCCATTCATTTCATGTTAGTGGGACTATTAACTTGTCACCA
AGCAGGACTCTATTTCAAACAAAATTTAAAACTGTTTGTGGCCTATATGTGTTTAATCCTGGTTAAAGATAAAGCTTCATAATGCTGTTT
TTATTCAACACATTAACCAGCTGTAAAACACAGACCTTTATCAAGAGTAGGCAAAGATTTTCAGGATTCATATACAGATAGACTATAAAG
TCATGTAATTTGAAAAGCAGTGTTTCATTATGAAAGAGCTCTCAAGTTGCTTGTAAAGCTAATCTAATTAAAAAGATGTATAAATGTTGT

>In-frame_ENST00000367470_ENST00000366641_TCGA-BR-6458-01A_C1orf27_chr1_186352288_+_EGLN1_chr1_231509845_length(amino acids)=207AA_start in transcript=236_stop in transcript=859
MGRTYIVEETVGQYLSNINLQGKAFVSGLLIGQCSSQKDYVILATRTPPKEEQSENLKHPKAKLDNLDEEWATEHACQAMVACYPGNGTG
YVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARA

--------------------------------------------------------------
>In-frame_ENST00000419367_ENST00000366641_TCGA-BR-6458-01A_C1orf27_chr1_186352288_+_EGLN1_chr1_231509845_length(transcript)=3455nt_BP=405nt
AGTAGGTCGCTTTCTGATGAATTCAGTGGCAGTGAATTGAGACCGGAGGGAATCTGGCCCCTAGAGGCTGGTACTTGGGCCCGAAACCCC
CATCTCCGGCGGAGAGACCGTCCGAGGTAATTGTCTGCCACGAGTGCACATTCTGAAAACAGGAGATTTTAGTTCCTAAAAATGGGAAGA
ACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTAATAGGACAG
TGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCCAAAGCTAAG
TTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGTTATGTACGT
CATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGTGGAGGTATA
CTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGACCGTCGCAAC
CCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCTAAAGTAAAA
TATCTAACAGGTGAAAAAGGTGTGAGGGTTGAACTCAATAAACCTTCAGATTCGGTCGGTAAAGACGTCTTCTAGAGCCTTTGATCCAGC
AATACCCCACTTCACCTACAATATTGTTAACTATTTGTTAACTTGTGAATACGAATAAATGGGATAAAGAAAAATAGACAACCAGTTCGC
ATTTTAATAAGGAAACAGAAACAACTTTTTGTGTTGCATCAAACAGAAGATTTTGACTGCTGTGACTTTGTACTGCATGATCAACTTCAA
ATCTGTGATTGCTTACAGGAGGAAGATAAGCTACTAATTGAAAATGGTTTTTACATCTGGATATGAAATAAGTGCCCTGTGTAGAATTTT
TTTCATTCTTATATTTTGCCAGATCTGTTATCTAGCTGAGTTCATTTCATCTCTCCCTTTTTTATATCAAGTTTGAATTTGGGATAATTT
TTCTATATTAGGTACAATTTATCTAAACTGAATTGAGAAAAAATTACAGTATTATTCCTCAAAATAACATCAATCTATTTTTGTAAACCT
GTTCATACTATTAAATTTTGCCCTAAAAGACCTCTTAATAATGATTGTTGCCAGTGACTGATGATTAATTTTATTTTACTTAAAATAAGA
AAAGGAGCACTTTAATTACAACTGAAAAATCAGATTGTTTTGTAGTCCTTCCTTACACTAATTTGAACTGTTAAAGATTGCTGCTTTTTT
TTTGACATTGTCAATAACGAAACCTAATTGTAAAACAGTCACCATTTACTACCAATAACTTTTAGTTAATGTTTTACAAGGAAAAAGACA
CAAGAAGAGTTTAAATTTTTTTGTTTTGTTTTGTTTTTTTGAGACAGTCTTGCTCTGTTACCCAGGCTGGAGGGGAGTGGTGCATTCTTG
GCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACTGCAGGCACACACCACCATGCC
TGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTTGCCATGTTGCCTAGGCTGGGGTTTAAGTTAAATTTTTTAAAAAACTAAAGTGA
CTGGCACTAAGTGAACTTGAGATTATCCTCAGCTTCAAGTTCCTAAGATAAGGGCTTTCTTAAGCTTTCAGGTGTATGTATCCTCTAGAT
GTAGACAATAATGTCCCATTTCTAAGTCTTTTCCTTTTGCTTCTCCTTAAATTGATTGTACTTCCAAATTTGCTGTTATGTTTTTTTCCT
AATACTGTGATCTATCTGATCTGCAGACAAGAACCTTGTCTCTGTTGAAGAGCATCAAGGGGAGATTATGTACACATTGAAACTGAAGTG
TGGTGTTACTGACGGAATGTGCAGTAACTCCTCAGATATCTGTTAAGGCATTTCCCAGATGTGATGCCAGCCTTCTTACCTGTACTGAAA
GATGCTTAGCTTAGAAAAAAACAAAACAGATGCAAAATCAGATAATTTTATTTTGTTTCATGGGTTTTCTTATTTACTTTTTAAACAAGG
AAGGAATATTAGAAAATCACACAAGGCCTCACATACATGTTATTTAAAGAATGAATTGGGACGGATGTCTTAGACTTCACTTTCCTAGGC
TTTTTAGCAAAACCTAAAGGGTGGTATCCATATTTTGCGTGAATTATGGGTGTAAGACCTTGCCCACTTAGGTTTTCTATCTCTGTCCTT
GATCTTCTTTGCCAAAATGTGAGTATACAGAAATTTTCTGTATATTTCAACTTAAGACATTTTTAGCATCTGTATAGTTTGTATTCAATT
TGAGACCTTTTCTATGGGAAGCTCAGTAATTTTTATTAAAAGATTGCCATTGCTATTCATGTAAAACATGGAAAAAAATTGTGTAGTGAA
GCCAACAGTGGACTTAGGATGGGATTGAATGTTCAGTATAGTGATCTCACTTAGGAGAATTTGCAGGAGAAAGTGATAGTTTATTGTTTT
TTCCTCGCCCATATTCAGTTTTGTTCTACTTCCTCCCCTTCCTTCCAGATGATAACATCACATCTCTACAGTAAGTGCCTCTGCCAGCCC
AACCCAGGAGCGCAAGTTGTCTTTGCCATCTGGTCTATAGTACAGTGCGCGGCGTTAGGCCACAACTCAAAAGCATTATCTTTTTTAGGG
TTAGTAGAAATTGTTTTATGTTGATGGGAGGTTTGTTTGATTGTCAAAATGTACAGCCACAGCCTTTTAATTTGGGAGCCCCTGTTGTCA
TTCAAATGTGTACCTCTACAGTTGTAAAAAGTATTAGATTCTACTATCTGTGGGTTGTGCTTGCCAGACAGGTCTTAAATTGTATATTTT
TTGGAAAAGTTTATATACTCTCTTAGGAATCATTGTGAAAAGATCAAGAAATCAGGATGGCCATTTATTTAATATCCATTCATTTCATGT
TAGTGGGACTATTAACTTGTCACCAAGCAGGACTCTATTTCAAACAAAATTTAAAACTGTTTGTGGCCTATATGTGTTTAATCCTGGTTA
AAGATAAAGCTTCATAATGCTGTTTTTATTCAACACATTAACCAGCTGTAAAACACAGACCTTTATCAAGAGTAGGCAAAGATTTTCAGG
ATTCATATACAGATAGACTATAAAGTCATGTAATTTGAAAAGCAGTGTTTCATTATGAAAGAGCTCTCAAGTTGCTTGTAAAGCTAATCT

>In-frame_ENST00000419367_ENST00000366641_TCGA-BR-6458-01A_C1orf27_chr1_186352288_+_EGLN1_chr1_231509845_length(amino acids)=207AA_start in transcript=171_stop in transcript=794
MGRTYIVEETVGQYLSNINLQGKAFVSGLLIGQCSSQKDYVILATRTPPKEEQSENLKHPKAKLDNLDEEWATEHACQAMVACYPGNGTG
YVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARA

--------------------------------------------------------------
>In-frame_ENST00000287859_ENST00000366641_TCGA-BR-6458-01A_C1orf27_chr1_186352288_+_EGLN1_chr1_231509845_length(transcript)=3409nt_BP=359nt
AGGGAATCTGGCCCCTAGAGGCTGGTACTTGGGCCCGAAACCCCCATCTCCGGCGGAGAGACCGTCCGAGGTAATTGTCTGCCACGAGTG
CACATTCTGAAAACAGGAGATTTTAGTTCCTAAAAATGGGAAGAACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAA
ATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTAATAGGACAGTGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCAC
CCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCCAAAGCTAAGTTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGG
CCATGGTTGCTTGTTATCCGGGCAATGGAACGGGTTATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATAT
ATTATCTTAATAAAGACTGGGATGCCAAGGTAAGTGGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAAC
CCAAATTTGATAGACTGCTGTTTTTCTGGTCTGACCGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTG
TTTGGTATTTTGATGCAGATGAGAGAGCACGAGCTAAAGTAAAATATCTAACAGGTGAAAAAGGTGTGAGGGTTGAACTCAATAAACCTT
CAGATTCGGTCGGTAAAGACGTCTTCTAGAGCCTTTGATCCAGCAATACCCCACTTCACCTACAATATTGTTAACTATTTGTTAACTTGT
GAATACGAATAAATGGGATAAAGAAAAATAGACAACCAGTTCGCATTTTAATAAGGAAACAGAAACAACTTTTTGTGTTGCATCAAACAG
AAGATTTTGACTGCTGTGACTTTGTACTGCATGATCAACTTCAAATCTGTGATTGCTTACAGGAGGAAGATAAGCTACTAATTGAAAATG
GTTTTTACATCTGGATATGAAATAAGTGCCCTGTGTAGAATTTTTTTCATTCTTATATTTTGCCAGATCTGTTATCTAGCTGAGTTCATT
TCATCTCTCCCTTTTTTATATCAAGTTTGAATTTGGGATAATTTTTCTATATTAGGTACAATTTATCTAAACTGAATTGAGAAAAAATTA
CAGTATTATTCCTCAAAATAACATCAATCTATTTTTGTAAACCTGTTCATACTATTAAATTTTGCCCTAAAAGACCTCTTAATAATGATT
GTTGCCAGTGACTGATGATTAATTTTATTTTACTTAAAATAAGAAAAGGAGCACTTTAATTACAACTGAAAAATCAGATTGTTTTGTAGT
CCTTCCTTACACTAATTTGAACTGTTAAAGATTGCTGCTTTTTTTTTGACATTGTCAATAACGAAACCTAATTGTAAAACAGTCACCATT
TACTACCAATAACTTTTAGTTAATGTTTTACAAGGAAAAAGACACAAGAAGAGTTTAAATTTTTTTGTTTTGTTTTGTTTTTTTGAGACA
GTCTTGCTCTGTTACCCAGGCTGGAGGGGAGTGGTGCATTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATCCTCCCACCT
CAGCCTCCCAACTAGCTGGGACTGCAGGCACACACCACCATGCCTGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTTGCCATGTTG
CCTAGGCTGGGGTTTAAGTTAAATTTTTTAAAAAACTAAAGTGACTGGCACTAAGTGAACTTGAGATTATCCTCAGCTTCAAGTTCCTAA
GATAAGGGCTTTCTTAAGCTTTCAGGTGTATGTATCCTCTAGATGTAGACAATAATGTCCCATTTCTAAGTCTTTTCCTTTTGCTTCTCC
TTAAATTGATTGTACTTCCAAATTTGCTGTTATGTTTTTTTCCTAATACTGTGATCTATCTGATCTGCAGACAAGAACCTTGTCTCTGTT
GAAGAGCATCAAGGGGAGATTATGTACACATTGAAACTGAAGTGTGGTGTTACTGACGGAATGTGCAGTAACTCCTCAGATATCTGTTAA
GGCATTTCCCAGATGTGATGCCAGCCTTCTTACCTGTACTGAAAGATGCTTAGCTTAGAAAAAAACAAAACAGATGCAAAATCAGATAAT
TTTATTTTGTTTCATGGGTTTTCTTATTTACTTTTTAAACAAGGAAGGAATATTAGAAAATCACACAAGGCCTCACATACATGTTATTTA
AAGAATGAATTGGGACGGATGTCTTAGACTTCACTTTCCTAGGCTTTTTAGCAAAACCTAAAGGGTGGTATCCATATTTTGCGTGAATTA
TGGGTGTAAGACCTTGCCCACTTAGGTTTTCTATCTCTGTCCTTGATCTTCTTTGCCAAAATGTGAGTATACAGAAATTTTCTGTATATT
TCAACTTAAGACATTTTTAGCATCTGTATAGTTTGTATTCAATTTGAGACCTTTTCTATGGGAAGCTCAGTAATTTTTATTAAAAGATTG
CCATTGCTATTCATGTAAAACATGGAAAAAAATTGTGTAGTGAAGCCAACAGTGGACTTAGGATGGGATTGAATGTTCAGTATAGTGATC
TCACTTAGGAGAATTTGCAGGAGAAAGTGATAGTTTATTGTTTTTTCCTCGCCCATATTCAGTTTTGTTCTACTTCCTCCCCTTCCTTCC
AGATGATAACATCACATCTCTACAGTAAGTGCCTCTGCCAGCCCAACCCAGGAGCGCAAGTTGTCTTTGCCATCTGGTCTATAGTACAGT
GCGCGGCGTTAGGCCACAACTCAAAAGCATTATCTTTTTTAGGGTTAGTAGAAATTGTTTTATGTTGATGGGAGGTTTGTTTGATTGTCA
AAATGTACAGCCACAGCCTTTTAATTTGGGAGCCCCTGTTGTCATTCAAATGTGTACCTCTACAGTTGTAAAAAGTATTAGATTCTACTA
TCTGTGGGTTGTGCTTGCCAGACAGGTCTTAAATTGTATATTTTTTGGAAAAGTTTATATACTCTCTTAGGAATCATTGTGAAAAGATCA
AGAAATCAGGATGGCCATTTATTTAATATCCATTCATTTCATGTTAGTGGGACTATTAACTTGTCACCAAGCAGGACTCTATTTCAAACA
AAATTTAAAACTGTTTGTGGCCTATATGTGTTTAATCCTGGTTAAAGATAAAGCTTCATAATGCTGTTTTTATTCAACACATTAACCAGC
TGTAAAACACAGACCTTTATCAAGAGTAGGCAAAGATTTTCAGGATTCATATACAGATAGACTATAAAGTCATGTAATTTGAAAAGCAGT

>In-frame_ENST00000287859_ENST00000366641_TCGA-BR-6458-01A_C1orf27_chr1_186352288_+_EGLN1_chr1_231509845_length(amino acids)=207AA_start in transcript=125_stop in transcript=748
MGRTYIVEETVGQYLSNINLQGKAFVSGLLIGQCSSQKDYVILATRTPPKEEQSENLKHPKAKLDNLDEEWATEHACQAMVACYPGNGTG
YVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARA

--------------------------------------------------------------
>In-frame_ENST00000432021_ENST00000366641_TCGA-BR-6458-01A_C1orf27_chr1_186352288_+_EGLN1_chr1_231509845_length(transcript)=3284nt_BP=234nt
ATGGGAAGAACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTA
ATAGGACAGTGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCC
AAAGCTAAGTTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGT
TATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGT
GGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGAC
CGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCT
AAAGTAAAATATCTAACAGGTGAAAAAGGTGTGAGGGTTGAACTCAATAAACCTTCAGATTCGGTCGGTAAAGACGTCTTCTAGAGCCTT
TGATCCAGCAATACCCCACTTCACCTACAATATTGTTAACTATTTGTTAACTTGTGAATACGAATAAATGGGATAAAGAAAAATAGACAA
CCAGTTCGCATTTTAATAAGGAAACAGAAACAACTTTTTGTGTTGCATCAAACAGAAGATTTTGACTGCTGTGACTTTGTACTGCATGAT
CAACTTCAAATCTGTGATTGCTTACAGGAGGAAGATAAGCTACTAATTGAAAATGGTTTTTACATCTGGATATGAAATAAGTGCCCTGTG
TAGAATTTTTTTCATTCTTATATTTTGCCAGATCTGTTATCTAGCTGAGTTCATTTCATCTCTCCCTTTTTTATATCAAGTTTGAATTTG
GGATAATTTTTCTATATTAGGTACAATTTATCTAAACTGAATTGAGAAAAAATTACAGTATTATTCCTCAAAATAACATCAATCTATTTT
TGTAAACCTGTTCATACTATTAAATTTTGCCCTAAAAGACCTCTTAATAATGATTGTTGCCAGTGACTGATGATTAATTTTATTTTACTT
AAAATAAGAAAAGGAGCACTTTAATTACAACTGAAAAATCAGATTGTTTTGTAGTCCTTCCTTACACTAATTTGAACTGTTAAAGATTGC
TGCTTTTTTTTTGACATTGTCAATAACGAAACCTAATTGTAAAACAGTCACCATTTACTACCAATAACTTTTAGTTAATGTTTTACAAGG
AAAAAGACACAAGAAGAGTTTAAATTTTTTTGTTTTGTTTTGTTTTTTTGAGACAGTCTTGCTCTGTTACCCAGGCTGGAGGGGAGTGGT
GCATTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACTGCAGGCACACAC
CACCATGCCTGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTTGCCATGTTGCCTAGGCTGGGGTTTAAGTTAAATTTTTTAAAAAA
CTAAAGTGACTGGCACTAAGTGAACTTGAGATTATCCTCAGCTTCAAGTTCCTAAGATAAGGGCTTTCTTAAGCTTTCAGGTGTATGTAT
CCTCTAGATGTAGACAATAATGTCCCATTTCTAAGTCTTTTCCTTTTGCTTCTCCTTAAATTGATTGTACTTCCAAATTTGCTGTTATGT
TTTTTTCCTAATACTGTGATCTATCTGATCTGCAGACAAGAACCTTGTCTCTGTTGAAGAGCATCAAGGGGAGATTATGTACACATTGAA
ACTGAAGTGTGGTGTTACTGACGGAATGTGCAGTAACTCCTCAGATATCTGTTAAGGCATTTCCCAGATGTGATGCCAGCCTTCTTACCT
GTACTGAAAGATGCTTAGCTTAGAAAAAAACAAAACAGATGCAAAATCAGATAATTTTATTTTGTTTCATGGGTTTTCTTATTTACTTTT
TAAACAAGGAAGGAATATTAGAAAATCACACAAGGCCTCACATACATGTTATTTAAAGAATGAATTGGGACGGATGTCTTAGACTTCACT
TTCCTAGGCTTTTTAGCAAAACCTAAAGGGTGGTATCCATATTTTGCGTGAATTATGGGTGTAAGACCTTGCCCACTTAGGTTTTCTATC
TCTGTCCTTGATCTTCTTTGCCAAAATGTGAGTATACAGAAATTTTCTGTATATTTCAACTTAAGACATTTTTAGCATCTGTATAGTTTG
TATTCAATTTGAGACCTTTTCTATGGGAAGCTCAGTAATTTTTATTAAAAGATTGCCATTGCTATTCATGTAAAACATGGAAAAAAATTG
TGTAGTGAAGCCAACAGTGGACTTAGGATGGGATTGAATGTTCAGTATAGTGATCTCACTTAGGAGAATTTGCAGGAGAAAGTGATAGTT
TATTGTTTTTTCCTCGCCCATATTCAGTTTTGTTCTACTTCCTCCCCTTCCTTCCAGATGATAACATCACATCTCTACAGTAAGTGCCTC
TGCCAGCCCAACCCAGGAGCGCAAGTTGTCTTTGCCATCTGGTCTATAGTACAGTGCGCGGCGTTAGGCCACAACTCAAAAGCATTATCT
TTTTTAGGGTTAGTAGAAATTGTTTTATGTTGATGGGAGGTTTGTTTGATTGTCAAAATGTACAGCCACAGCCTTTTAATTTGGGAGCCC
CTGTTGTCATTCAAATGTGTACCTCTACAGTTGTAAAAAGTATTAGATTCTACTATCTGTGGGTTGTGCTTGCCAGACAGGTCTTAAATT
GTATATTTTTTGGAAAAGTTTATATACTCTCTTAGGAATCATTGTGAAAAGATCAAGAAATCAGGATGGCCATTTATTTAATATCCATTC
ATTTCATGTTAGTGGGACTATTAACTTGTCACCAAGCAGGACTCTATTTCAAACAAAATTTAAAACTGTTTGTGGCCTATATGTGTTTAA
TCCTGGTTAAAGATAAAGCTTCATAATGCTGTTTTTATTCAACACATTAACCAGCTGTAAAACACAGACCTTTATCAAGAGTAGGCAAAG
ATTTTCAGGATTCATATACAGATAGACTATAAAGTCATGTAATTTGAAAAGCAGTGTTTCATTATGAAAGAGCTCTCAAGTTGCTTGTAA

>In-frame_ENST00000432021_ENST00000366641_TCGA-BR-6458-01A_C1orf27_chr1_186352288_+_EGLN1_chr1_231509845_length(amino acids)=207AA_start in transcript=0_stop in transcript=623
MGRTYIVEETVGQYLSNINLQGKAFVSGLLIGQCSSQKDYVILATRTPPKEEQSENLKHPKAKLDNLDEEWATEHACQAMVACYPGNGTG
YVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARA

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

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Fusion Gene PPI Analysis for C1orf27-EGLN1


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 C1orf27-EGLN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneEGLN1Q9GZT9DB01592IronSmall moleculeApproved
TgeneEGLN1Q9GZT9DB01592IronSmall moleculeApproved
TgeneEGLN1Q9GZT9DB01592IronSmall moleculeApproved
TgeneEGLN1Q9GZT9DB01592IronSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14488Ferrous gluconateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14488Ferrous gluconateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14488Ferrous gluconateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14488Ferrous gluconateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14489Ferrous succinateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14489Ferrous succinateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14489Ferrous succinateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14489Ferrous succinateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14490Ferrous ascorbateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14490Ferrous ascorbateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14490Ferrous ascorbateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14490Ferrous ascorbateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14491Ferrous fumarateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14491Ferrous fumarateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14491Ferrous fumarateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14491Ferrous fumarateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14501Ferrous glycine sulfateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14501Ferrous glycine sulfateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14501Ferrous glycine sulfateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB14501Ferrous glycine sulfateSmall moleculeApproved
TgeneEGLN1Q9GZT9DB00126Ascorbic acidChaperoneSmall moleculeApproved|Nutraceutical
TgeneEGLN1Q9GZT9DB00126Ascorbic acidChaperoneSmall moleculeApproved|Nutraceutical
TgeneEGLN1Q9GZT9DB00126Ascorbic acidChaperoneSmall moleculeApproved|Nutraceutical
TgeneEGLN1Q9GZT9DB00126Ascorbic acidChaperoneSmall moleculeApproved|Nutraceutical

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Related Diseases for C1orf27-EGLN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEGLN1C1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome6CLINGEN
TgeneEGLN1C1853286Erythrocytosis, Familial, 32CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneEGLN1C0030421Paraganglioma1GENOMICS_ENGLAND
TgeneEGLN1C0031511Pheochromocytoma1GENOMICS_ENGLAND
TgeneEGLN1C0032461Polycythemia1GENOMICS_ENGLAND
TgeneEGLN1C0149504Encephalopathy, Toxic1CTD_human
TgeneEGLN1C0154659Toxic Encephalitis1CTD_human
TgeneEGLN1C0235032Neurotoxicity Syndromes1CTD_human
TgeneEGLN1C4551683Adrenal Gland Pheochromocytoma1GENOMICS_ENGLAND