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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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Fusion gene ID: 4876

FusionGeneSummary for C1orf27_EGLN1

check button Fusion gene summary
Fusion gene informationFusion gene name: C1orf27_EGLN1
Fusion gene ID: 4876
HgeneTgene
Gene symbol

C1orf27

EGLN1

Gene ID

54583

Gene nameegl-9 family hypoxia inducible factor 1
SynonymsC1orf12|ECYT3|HALAH|HIF-PH2|HIFPH2|HPH-2|HPH2|PHD2|SM20|ZMYND6
Cytomap

1q42.2

Type of geneprotein-coding
Descriptionegl 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 date20180527
UniProtAcc

Q9GZT9

Ensembl transtripts involved in fusion geneENST00000367470, ENST00000419367, 
ENST00000287859, ENST00000432021, 
ENST00000461662, 
ENST00000366641, 
ENST00000476717, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 3 X 3=45
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

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

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSTADTCGA-BR-6458-01AC1orf27chr1

186352288

+EGLN1chr1

231509845

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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

-

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FusionProtFeatures for C1orf27_EGLN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C1orf27

EGLN1

Q9GZT9

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Cellular oxygen sensor that catalyzes, under normoxicconditions, the post-translational formation of 4-hydroxyprolinein hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates aspecific 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 forboth HIF1A and HIF1B. Hydroxylated HIFs are then targeted forproteasomal degradation via the von Hippel-Lindau ubiquitinationcomplex. Under hypoxic conditions, the hydroxylation reaction isattenuated allowing HIFs to escape degradation resulting in theirtranslocation to the nucleus, heterodimerization with HIF1B, andincreased expression of hypoxy-inducible genes. EGLN1 is the mostimportant isozyme under normoxia and, through regulating thestability of HIF1, involved in various hypoxia-influencedprocesses such as angiogenesis in retinal and cardiacfunctionality. Target proteins are preferentially recognized via aLXXLAP 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_45278455TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000287859+31482_10278455TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000367470+313432_45278432TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000367470+31382_10278432TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000419367+313432_45278423TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000419367+31382_10278423TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000432021+212432_45278432TransmembraneHelical
HgeneC1orf27chr1:186352288chr1:231509845ENST00000432021+21282_10278432TransmembraneHelical
TgeneEGLN1chr1:186352288chr1:231509845ENST00000366641-05291_392297427DomainFe2OG dioxygenase
TgeneEGLN1chr1:186352288chr1:231509845ENST00000366641-05241_251297427RegionBeta(2)beta(3) 'finger-like' loop
TgeneEGLN1chr1:186352288chr1:231509845ENST00000366641-056_20297427RegionNote=Required for nuclear export
TgeneEGLN1chr1:186352288chr1:231509845ENST00000366641-0521_58297427Zinc fingerMYND-type


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FusionGeneSequence for C1orf27_EGLN1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_C1orf27_ENST00000367470_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_208aa
MGRTYIVEETVGQYLSNINLQGKAFVSGLLIGQCSSQKDYVILATRTPPKEEQSENLKHPKAKLDNLDEEWATEHACQAMVACYPGNGTG
YVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARA

>In-frame_C1orf27_ENST00000419367_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_208aa
MGRTYIVEETVGQYLSNINLQGKAFVSGLLIGQCSSQKDYVILATRTPPKEEQSENLKHPKAKLDNLDEEWATEHACQAMVACYPGNGTG
YVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARA

>In-frame_C1orf27_ENST00000287859_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_208aa
MGRTYIVEETVGQYLSNINLQGKAFVSGLLIGQCSSQKDYVILATRTPPKEEQSENLKHPKAKLDNLDEEWATEHACQAMVACYPGNGTG
YVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARA

>In-frame_C1orf27_ENST00000432021_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_208aa
MGRTYIVEETVGQYLSNINLQGKAFVSGLLIGQCSSQKDYVILATRTPPKEEQSENLKHPKAKLDNLDEEWATEHACQAMVACYPGNGTG
YVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_C1orf27_ENST00000367470_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_624nt
ATGGGAAGAACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTA
ATAGGACAGTGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCC
AAAGCTAAGTTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGT
TATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGT
GGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGAC
CGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCT

>In-frame_C1orf27_ENST00000419367_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_624nt
ATGGGAAGAACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTA
ATAGGACAGTGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCC
AAAGCTAAGTTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGT
TATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGT
GGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGAC
CGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCT

>In-frame_C1orf27_ENST00000287859_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_624nt
ATGGGAAGAACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTA
ATAGGACAGTGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCC
AAAGCTAAGTTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGT
TATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGT
GGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGAC
CGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCT

>In-frame_C1orf27_ENST00000432021_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_624nt
ATGGGAAGAACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTA
ATAGGACAGTGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCC
AAAGCTAAGTTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGT
TATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGT
GGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGAC
CGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCT


* Fusion transcript sequences (Full-length transcript).
>In-frame_C1orf27_ENST00000367470_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_3520nt
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_C1orf27_ENST00000419367_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_3455nt
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_C1orf27_ENST00000287859_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_3409nt
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_C1orf27_ENST00000432021_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_3284nt
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


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FusionGenePPI 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
C1orf27GRB2, FAM177A1, ATM, UBXN4, UFSP2, CYLDEGLN1POLR2A, ING4, OSR1, HIF1A, EPAS1, HIST1H3A, OS9, SIAH2, EGLN1, EGLN3, SPRY2, SRC, FKBP8, LIMD1, VHL, MAGEA11, MAGEA9, PKM, KRAS, ZNF281, FKBP5, PLD1, RFPL4B, PEX19, SNUPN, CBWD1, CBWD2, MKS1, PLD2, GPLD1, RHOBTB3, PTGES3, FKBP4, HSP90AA1, HSP90AB1, N6AMT2, AKT1, AKT2


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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RelatedDrugs for C1orf27_EGLN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneEGLN1Q9GZT9DB01592IronEgl nine homolog 1small moleculeapproved
TgeneEGLN1Q9GZT9DB00126Vitamin CEgl nine homolog 1small moleculeapproved|nutraceutical

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RelatedDiseases for C1orf27_EGLN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEGLN1C1853286Erythrocytosis, Familial, 32CTD_human;UNIPROT