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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:DNAJC1-DCLRE1C (FusionGDB2 ID:HG64215TG64421)

Fusion Gene Summary for DNAJC1-DCLRE1C

check button Fusion gene summary
Fusion gene informationFusion gene name: DNAJC1-DCLRE1C
Fusion gene ID: hg64215tg64421
HgeneTgene
Gene symbol

DNAJC1

DCLRE1C

Gene ID

64215

64421

Gene nameDnaJ heat shock protein family (Hsp40) member C1DNA cross-link repair 1C
SynonymsDNAJL1|ERdj1|HTJ1|MTJ1A-SCID|DCLREC1C|RS-SCID|SCIDA|SNM1C
Cytomap('DNAJC1')('DCLRE1C')

10p12.31

10p13

Type of geneprotein-codingprotein-coding
DescriptiondnaJ homolog subfamily C member 1DnaJ (Hsp40) homolog, subfamily C, member 1DnaJ-like proteindnaJ protein homolog MTJ1protein artemisDNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)SNM1 homolog CSNM1-like proteinsevere combined immunodeficiency, type a (Athabascan)
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000376980, ENST00000376946, 
ENST00000483085, 
Fusion gene scores* DoF score17 X 15 X 7=178510 X 9 X 4=360
# samples 1810
** MAII scorelog2(18/1785*10)=-3.30985526258679
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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

PubMed: DNAJC1 [Title/Abstract] AND DCLRE1C [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDNAJC1(22171211)-DCLRE1C(14941311), # samples:2
Anticipated loss of major functional domain due to fusion event.DNAJC1-DCLRE1C 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.
DNAJC1-DCLRE1C 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.
DNAJC1-DCLRE1C 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.
DNAJC1-DCLRE1C 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
HgeneDNAJC1

GO:0050708

regulation of protein secretion

14668352


check buttonFusion gene breakpoints across DNAJC1 (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 DCLRE1C (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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-A081-01ADNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-


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Fusion Gene ORF analysis for DNAJC1-DCLRE1C

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
5CDS-intronENST00000376980ENST00000357717DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378242DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378246DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378249DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378254DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378255DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378258DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378278DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000396817DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000453695DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000492201DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
In-frameENST00000376980ENST00000378289DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-3CDSENST00000376946ENST00000378289DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-3CDSENST00000483085ENST00000378289DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000357717DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378242DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378246DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378249DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378254DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378255DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378258DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378278DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000396817DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000453695DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000492201DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000357717DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378242DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378246DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378249DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378254DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378255DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378258DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378278DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000396817DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000453695DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000492201DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-

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)
ENST00000376980DNAJC1chr1022171211-ENST00000378289DCLRE1Cchr1014941311-322312692041331375

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
ENST00000376980ENST00000378289DNAJC1chr1022171211-DCLRE1Cchr1014941311-0.0003563280.9996437

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Fusion Genomic Features for DNAJC1-DCLRE1C


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.
genomic feature

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Fusion Protein Features for DNAJC1-DCLRE1C


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/chr10:22171211/chr10:14941311)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-81265_129326555.0DomainJ
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-81248_153326555.0Topological domainLumenal
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-812154_174326555.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-812325_379326555.0DomainSANT 1
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-812492_547326555.0DomainSANT 2
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-812175_554326555.0Topological domainCytoplasmic


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Fusion Gene Sequence for DNAJC1-DCLRE1C


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.
>23483_23483_1_DNAJC1-DCLRE1C_DNAJC1_chr10_22171211_ENST00000376980_DCLRE1C_chr10_14941311_ENST00000378289_length(transcript)=3223nt_BP=1269nt
GCAGCCCAGGCGCCGGGCGCTGCCTCTACAGCTGTGTGTAGGCCTGGGGGCGAGGGTCTTCGGAACGTAGCGCTGGCTGCGGCCCCGCCC
GCCTACCCACCCGCCCGTCCGGCAGCCGGCTCCCGCCGCCTCCGCGCTCTGTCTGGGGCCAGCCACCTGGCGGGCCGCTCCGGTGCGCCT
GCCCGCGCTTTTCACTGACAGGCGCTGTTCCCCACAGCCAGCGCCGCCCGCCACGTCCCAGCTCTCGGCCAACGGAGCTGCGCGGCGGGT
GACCTTTCCGAGCCCAGCGCGATGACGGCTCCTTGCTCCCAGCCGGCGCAGCTTCCTGGACGCCGCCAGCTCGGGCTGGTGCCGTTCCCG
CCGCCGCCGCCGCGGACGCCGCTGCTGTGGCTGCTGCTGCTGCTGCTGGCCGCCGTGGCGCCGGCGCGCGGCTGGGAGAGCGGAGACCTG
GAGTTGTTTGACTTAGTGGAGGAGGTGCAGCTCAACTTCTACCAGTTCCTCGGGGTGCAGCAGGATGCATCATCTGCAGACATCAGAAAA
GCATATCGTAAGCTTTCACTAACTTTACATCCAGACAAGAATAAAGATGAAAATGCAGAAACTCAGTTTAGACAATTGGTGGCCATTTAT
GAAGTTTTAAAGGATGATGAACGAAGGCAGAGGTATGATGATATTCTGATCAATGGACTTCCAGATTGGCGACAGCCTGTATTCTACTAC
AGGCGGGTGAGAAAAATGAGCAATGCTGAGCTGGCATTACTCTTGTTCATTATTCTCACAGTGGGTCATTATGCTGTGGTTTGGTCAATC
TACCTGGAAAAACAACTGGATGAACTACTAAGTAGAAAAAAGAGAGAAAAGAAAAAAAAGACTGGCAGCAAGAGTGTGGATGTATCAAAA
CTCGGTGCTTCAGAAAAAAATGAAAGATTGCTGATGAAACCACAGTGGCATGATTTGCTTCCATGCAAACTGGGGATTTGGTTTTGCCTT
ACACTAAAAGCATTACCTCACCTCATCCAGGATGCTGGGCAGTTTTATGCTAAATATAAAGAAACAAGATTGAAGGAAAAGGAAGATGCA
CTGACTAGAACTGAACTTGAAACACTTCAAAAACAGAAGAAAGTTAAAAAACCAAAACCTGAATTTCCTGTATACACACCTTTAGAAACT
ACATATATTCAGTCTTATGATCATGGAACTTCCATAGAAGAAATTGAGGAACAAATGGATGATTGGTTGGAAAACAGGAACCGAACACAG
AAAAAACAGGGTCTCACTCTGTCACTCAGGCTAGAATGCGGTGGTGCCATCATGACTCCCTGTATCCTTTAACTCCTGGGATCAAGCGAT
CTTCCTGCCTCAGCCTCCTGACTAGCTGGATCACAGGTGCATACCGCCATGCCCAGCTAATGATTTAGTTTTTATAGAGATGTGGGGTCT
CACTATGTTGCCCACACTGGTCTGGAACTCCTGGGCTCAAGTGAGCCTCCAGCCTTGACCTCCCCAAGTGCTGGGATTAACTGTAACTGG
TTGATTTATGACTTTTTAAACAGGATTTGAGCAGTACATTGGAACACTGCATTACTTTCATTATAATTAGGATGTTCAAAAAGCTATACA
ACTATAGCTCTCTACAGGACACAACTGAATGTTAAGGACTAAATCTGCAAGTATATGCTCTAAATATGATCCAGGCACATTTTTCCTATA
ACTTATATATATGCAGTTACAAATGGAAAATTGTTAAAAATACAGGGGAGAAGCTATGTTAACTTTGGAATGGAAGGTTTTGTTTTTGTA
GAATATGTTATTTTCATGCAATTCTGTAAGTCTAAGATCGTCATCTACAGTTCTGCTCTTAAGAACACAAGTTTTATGACACGCTCGGCT
TAAGAAACCAAAAGTGTCTAAAGTACTTTATGTTACCAACCAAATTTGGCTGCTGCACTCATTAAGAATGCAACTTAAAAAATTTTGGTT
AACAAAAAGAGTAATTTGATTATACAAGATCTTGTATACTGAATAATTTATAATAATCTACCACTGTCTAAAAGTGTAAGAATCAAAACA
GCCATCTAATTTAGTTTCAGAATTATAGATGAATACAGATAATTATAGGTGACCCAATTCCAACTAAAAAATCCAGAGTTGACAACTCCA
GATATGTAGCCATGCTTGTGTCTTTCTAGTCACAGCTCAACCTACCCTTCAGTTTGAAGCAGTGTGGTGCCATGGTGAAGACTACTGATT
TTAGAGCTTTGAATCTCGGTTCTTATTACTATGTGACCTGTGTGACCTTGGGCAAGGTACTCAATTTCTCTACAATAATGGACATAACAG
TACTACTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAGTACTACCTCACTGAGTTTTGGAGAGGATTAGTGAATTAATACAT
CAAGTGCTTAGAATAGTATGTGACACACGGCAAATACTTTTTACATTTATATATATATATACATATATATGATTTGTATACAAATAAATT
TGCTAGTATTTGTATGGTAGTTTTGAGAATGGTCTTCACAGTTCAAAAGTAAGTTACAGATTATGGATGCAATAAATGCTTGTGTATATT
TTACAAAACTCATAAATATAGTATCTTTCATGTTGATCCAAAATAGAGTTCTGCCAACTACATTTAATCATATTTGGTCAAATAGATGAA
GTAAATTAAAACTTTCAAGTTTCAAAGCAGCATGTGTTACATCTGAGTTTCTTCTTAGGACTTTTGGGTAAAAACAGTTGTCATATTTTA
AATTTTACAAATCCTAGGTTTGACTAGTAGGAATGTGTATTTGTTGAAAGATGACTATATCAATTTGTTTTAACGTATATTTTTTATTCA
TATAAAAGTTTTTTATTTCTAAATATGCCAGTGAACTCTTCTCCTAAATCTGAATAAATTTCTACATATCTGCAAATGAAAATATCAAAA
TGTACCAAGTATCTCTTAAAGAGATAAAAAGGTAATTTTCCAAAAGTATAAACCTTGCATGTCCATCATTTACTACGTGGCAAATGAAAC
ATACCTCTCCAACATATTCCATGACAAAACTCATTCTTTTAATCTTCACAAGGGTCTTTACACCCCAGCCACGTCCATTGCTAGTTCGAA
AGATGCAAAGCGAATACTGTGTGCCTTTTTGTACAATCCTATTGGGACAATCAGGACCACACTGACACCTTGA

>23483_23483_1_DNAJC1-DCLRE1C_DNAJC1_chr10_22171211_ENST00000376980_DCLRE1C_chr10_14941311_ENST00000378289_length(amino acids)=375AA_BP=353
MFPTASAARHVPALGQRSCAAGDLSEPSAMTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVEE
VQLNFYQFLGVQQDASSADIRKAYRKLSLTLHPDKNKDENAETQFRQLVAIYEVLKDDERRQRYDDILINGLPDWRQPVFYYRRVRKMSN
AELALLLFIILTVGHYAVVWSIYLEKQLDELLSRKKREKKKKTGSKSVDVSKLGASEKNERLLMKPQWHDLLPCKLGIWFCLTLKALPHL
IQDAGQFYAKYKETRLKEKEDALTRTELETLQKQKKVKKPKPEFPVYTPLETTYIQSYDHGTSIEEIEEQMDDWLENRNRTQKKQGLTLS
LRLECGGAIMTPCIL

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

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Fusion Gene PPI Analysis for DNAJC1-DCLRE1C


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 DNAJC1-DCLRE1C


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 DNAJC1-DCLRE1C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDNAJC1C0025202melanoma1CTD_human
TgeneC1865370Severe combined immunodeficiency with sensitivity to ionizing radiation6CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1865372Athabaskan severe combined immunodeficiency1ORPHANET
TgeneC2700553Omenn Syndrome1GENOMICS_ENGLAND;ORPHANET;UNIPROT