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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ARFGEF2-FAM19A5 (FusionGDB2 ID:HG10564TG25817) |
Fusion Gene Summary for ARFGEF2-FAM19A5 |
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Fusion gene information | Fusion gene name: ARFGEF2-FAM19A5 | Fusion gene ID: hg10564tg25817 | Hgene | Tgene | Gene symbol | ARFGEF2 | FAM19A5 | Gene ID | 10564 | 25817 |
Gene name | ADP ribosylation factor guanine nucleotide exchange factor 2 | TAFA chemokine like family member 5 | |
Synonyms | BIG2|PVNH2|dJ1164I10.1 | FAM19A5|QLLK5208|TAFA-5|UNQ5208 | |
Cytomap | ('ARFGEF2')('FAM19A5') 20q13.13 | 22q13.32 | |
Type of gene | protein-coding | protein-coding | |
Description | brefeldin A-inhibited guanine nucleotide-exchange protein 2ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)brefeldin A-inhibited GEP 2 | chemokine-like protein TAFA-5TAFA protein 5family with sequence similarity 19 (chemokine (C-C motif)-like), member A5family with sequence similarity 19 member A5, C-C motif chemokine likeprotein FAM19A5 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000371917, ENST00000493140, | ||
Fusion gene scores | * DoF score | 15 X 13 X 9=1755 | 10 X 7 X 6=420 |
# samples | 15 | 10 | |
** MAII score | log2(15/1755*10)=-3.54843662469604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/420*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ARFGEF2 [Title/Abstract] AND FAM19A5 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ARFGEF2(47538547)-FAM19A5(49042409), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | ARFGEF2-FAM19A5 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. ARFGEF2-FAM19A5 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ARFGEF2 | GO:0001881 | receptor recycling | 16477018 |
Hgene | ARFGEF2 | GO:0035556 | intracellular signal transduction | 12571360 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-AR-A0TX-01A | ARFGEF2 | chr20 | 47538547 | - | FAM19A5 | chr22 | 49042409 | + |
ChimerDB4 | BRCA | TCGA-AR-A0TX-01A | ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042409 | + |
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Fusion Gene ORF analysis for ARFGEF2-FAM19A5 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000371917 | ENST00000406880 | ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042409 | + |
5CDS-intron | ENST00000371917 | ENST00000473898 | ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042409 | + |
In-frame | ENST00000371917 | ENST00000358295 | ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042409 | + |
In-frame | ENST00000371917 | ENST00000402357 | ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042409 | + |
intron-3CDS | ENST00000493140 | ENST00000358295 | ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042409 | + |
intron-3CDS | ENST00000493140 | ENST00000402357 | ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042409 | + |
intron-intron | ENST00000493140 | ENST00000406880 | ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042409 | + |
intron-intron | ENST00000493140 | ENST00000473898 | ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042409 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000371917 | ARFGEF2 | chr20 | 47538547 | + | ENST00000402357 | FAM19A5 | chr22 | 49042409 | + | 1384 | 121 | 420 | 1235 | 271 |
ENST00000371917 | ARFGEF2 | chr20 | 47538547 | + | ENST00000358295 | FAM19A5 | chr22 | 49042409 | + | 2493 | 121 | 420 | 1235 | 271 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000371917 | ENST00000402357 | ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042409 | + | 0.26708987 | 0.73291016 |
ENST00000371917 | ENST00000358295 | ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042409 | + | 0.3325993 | 0.6674007 |
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Fusion Genomic Features for ARFGEF2-FAM19A5 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042408 | + | 1.54E-06 | 0.99999845 |
ARFGEF2 | chr20 | 47538547 | + | FAM19A5 | chr22 | 49042408 | + | 1.54E-06 | 0.99999845 |
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Fusion Protein Features for ARFGEF2-FAM19A5 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:47538547/chr22:49042409) - 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. |
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Hgene | Tgene |
. | . |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | ARFGEF2 | chr20:47538547 | chr22:49042409 | ENST00000371917 | + | 1 | 39 | 654_785 | 40 | 1786.0 | Domain | SEC7 |
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Fusion Gene Sequence for ARFGEF2-FAM19A5 |
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>5868_5868_1_ARFGEF2-FAM19A5_ARFGEF2_chr20_47538547_ENST00000371917_FAM19A5_chr22_49042409_ENST00000358295_length(transcript)=2493nt_BP=121nt ATGCAGGAGAGCCAGACCAAGAGCATGTTCGTGTCCCGGGCCCTGGAGAAGATCCTAGCCGACAAGGAGGTGAAGCGGCCCCAGCACTCC CAGCTGCGCAGGGCCTGCCAGGTGGCGCTCGGTCAGCTGGCCGCCGGCACCTGTGAGATTGTGACCTTGGACCGGGACAGCAGCCAGCCT CGGAGGACGATCGCCCGGCAGACCGCCCGCTGTGCGTGTAGAAAGGGGCAGATCGCCGGCACCACGAGAGCCCGGCCCGCCTGTGTGGAC GCAAGAATCATCAAGACCAAGCAGTGGTGTGACATGCTTCCGTGTCTGGAGGGGGAAGGCTGCGACTTGTTAATCAACCGGTCAGGCTGG ACGTGCACGCAGCCCGGCGGGAGGATAAAGACCACCACGGTCTCCTGACAAACACAGCCCCTGAGGGGCCCCGGGAGTGGCCTTGGCTCC CTGGAGAGCCCACGTCTCAGCCACAGTTCTCCACTCGCCTCGGACTTCACCCGTTCTCTGCCGCCCGCCCACTCCGTTTCCCTGTGGTCC GTGAAGGACGGCCTCAGGCCTTGGCATCCTGAGCTTCGGTCTGTCCAGCCGACCCGAGGAGGCCGGACTCAGACACATAGGCGGGGGGCG GCACCTGGCATCAGCAATACGCAGTCTGTGGGAGCCCGGCCGCGCCCAGCCCCCGCCGACCGTGGCGTTGGCCCTGCTGTCCTCAGAGGA GGAGGAGGAGGAGGCAGCTCCGGCAGCCACAGAAGGCTGCAGCCCAGCCCGCCTGAGACACGACGCCTGCCCCAGGGGACTGTCAGGCAC AGAAGCGGCCTCCTCCCGTGCCCCAGACTGTCCGAATTGCTTTTATTTTCTTATACTTTCAGTATACTCCATAGACCAAAGAGCAAAATC TATCTGAACCTGGACGCACCCTCACTGTCAGGGTCCCTGGGGTCGCTTGTGCGGGCGGGAGGGCAATGGTGGCAGAGACATGCTGGTGGC CCCGGCGGAGCGGAGAGGGCGGCCGTGGTGGAGGCCTCCACCCCAGGAGCACCCCGCGCACCCTCGGAGGACGGGCTTCGGCTGCGCGGA GGCCGTGGCACACCTGCGGGAGGCAGCGACGGCCCCCACGCAGACGCCGGGAACGCAGGCCGCTTTATTCCTCTGTACTTAGATCAACTT GACCGTACTAAAATCCCTTTCTGTTTTAACCAGTTAAACATGCCTCTTCTACAGCTCCATTTTTGATAGTTGGATAATCCAGTATCTGCC AAGAGCATGTTGGGTCTCCCGTGACTGCTGCCTCATCGATACCCCATTTAGCTCCAGAAAGCAAAGAAAACTCGAGTAACACTTGTTTGA AAGAGATCATTAAATGTATTTTGCAAAGCCTAAAGTTATATATTTAACAGTTTTTATATGTTGTATATTTGTAGAAAATCCTATTTAACA ATTAACGTGGCAGTCCCGGCCGTCCTGAGAGTCGGGCCGAGCCCCGTGTGTTTCTGAAGACTCTGGGGGTGGGACACGGCGGGGAGGTGG TGCCCCGCGGACCCCGGGGTGCCAGGCACGGAAGGCGGGACTCTGGGAGAAGCGTGCGGAGGACCGTGGCGTCGGCGTCCCGGATGTGTC GGTCGTGCCCGGGGAGGCCGGGTTCCCCTCGCTGCGGGCCAGGCTTGGCTCCTGATTCCCTCTCTGGTCCCTGTATTGGTCAACACTTGA GCGTACAATATCTTGAACATGCTTCTTCCAATGGGTTTTGTTTCCCATTTCCTGCCCCTTTCGCCACTCACGGACCTTGAGGCCAGTTGA CGGCCCTTCTCCCCACGCCTGTGTCCCCGCGTTCTGAGAAGTCCTCTGTCTTCGTGTCACTAGGTCCAGAAAGTCGCGCCGGGCAGAGGC GCAGGCGGGGCCGGCAGGGCCGAGGAATAAGCGACAATTCTGGTTTTTCTCCCCTGGCCGTCGTTCGCCAGCCTCCTTCATTTTCCTGAG TTCCCGCTGAAGTATATACTACCTATGAGTCCAATTAACATGAGTATTATGCTAGTTCTATCCTACTAAAAAAAACGTAAAAAAATAACT ATATAGAAGCTGTTCCAGCAACCATAGACTGAAGATACGAAAGAAAATCCATTTATTTAAGACCTGTTCCGGTATCCATGAGGACATAAT TTACCTTTCAGTCACCACAAATTTATAGGCATTTGTATCCTGGACTAAAAGAAGGGGCTGAGGTTGGGTTTGTCATCACAGAGGGGGTGG GCCTGGAAAGGGTCCTTCCCAAGCTGCCCCGGCTCCGGCGGCCCGGGCCGGCAGCCTCTGCCAGCCAGCGTCCTCACGGCCTCCCCCTCG CCTGTTTCTTTTGAAAGCAAGTGTAGACACCTTCGAGGGCAGAGATCGGGAGATTTAAGATGTTACAGCATATTTTTTTTTCTTGTTTTA CAGTATTCAATTTTGTGTTGATTCAGCTAAATTATGAAAAATAAAGAAAAACTCCTTTGATAA >5868_5868_1_ARFGEF2-FAM19A5_ARFGEF2_chr20_47538547_ENST00000371917_FAM19A5_chr22_49042409_ENST00000358295_length(amino acids)=271AA_BP= MRGPGSGLGSLESPRLSHSSPLASDFTRSLPPAHSVSLWSVKDGLRPWHPELRSVQPTRGGRTQTHRRGAAPGISNTQSVGARPRPAPAD RGVGPAVLRGGGGGGSSGSHRRLQPSPPETRRLPQGTVRHRSGLLPCPRLSELLLFSYTFSILHRPKSKIYLNLDAPSLSGSLGSLVRAG GQWWQRHAGGPGGAERAAVVEASTPGAPRAPSEDGLRLRGGRGTPAGGSDGPHADAGNAGRFIPLYLDQLDRTKIPFCFNQLNMPLLQLH F -------------------------------------------------------------- >5868_5868_2_ARFGEF2-FAM19A5_ARFGEF2_chr20_47538547_ENST00000371917_FAM19A5_chr22_49042409_ENST00000402357_length(transcript)=1384nt_BP=121nt ATGCAGGAGAGCCAGACCAAGAGCATGTTCGTGTCCCGGGCCCTGGAGAAGATCCTAGCCGACAAGGAGGTGAAGCGGCCCCAGCACTCC CAGCTGCGCAGGGCCTGCCAGGTGGCGCTCGGTCAGCTGGCCGCCGGCACCTGTGAGATTGTGACCTTGGACCGGGACAGCAGCCAGCCT CGGAGGACGATCGCCCGGCAGACCGCCCGCTGTGCGTGTAGAAAGGGGCAGATCGCCGGCACCACGAGAGCCCGGCCCGCCTGTGTGGAC GCAAGAATCATCAAGACCAAGCAGTGGTGTGACATGCTTCCGTGTCTGGAGGGGGAAGGCTGCGACTTGTTAATCAACCGGTCAGGCTGG ACGTGCACGCAGCCCGGCGGGAGGATAAAGACCACCACGGTCTCCTGACAAACACAGCCCCTGAGGGGCCCCGGGAGTGGCCTTGGCTCC CTGGAGAGCCCACGTCTCAGCCACAGTTCTCCACTCGCCTCGGACTTCACCCGTTCTCTGCCGCCCGCCCACTCCGTTTCCCTGTGGTCC GTGAAGGACGGCCTCAGGCCTTGGCATCCTGAGCTTCGGTCTGTCCAGCCGACCCGAGGAGGCCGGACTCAGACACATAGGCGGGGGGCG GCACCTGGCATCAGCAATACGCAGTCTGTGGGAGCCCGGCCGCGCCCAGCCCCCGCCGACCGTGGCGTTGGCCCTGCTGTCCTCAGAGGA GGAGGAGGAGGAGGCAGCTCCGGCAGCCACAGAAGGCTGCAGCCCAGCCCGCCTGAGACACGACGCCTGCCCCAGGGGACTGTCAGGCAC AGAAGCGGCCTCCTCCCGTGCCCCAGACTGTCCGAATTGCTTTTATTTTCTTATACTTTCAGTATACTCCATAGACCAAAGAGCAAAATC TATCTGAACCTGGACGCACCCTCACTGTCAGGGTCCCTGGGGTCGCTTGTGCGGGCGGGAGGGCAATGGTGGCAGAGACATGCTGGTGGC CCCGGCGGAGCGGAGAGGGCGGCCGTGGTGGAGGCCTCCACCCCAGGAGCACCCCGCGCACCCTCGGAGGACGGGCTTCGGCTGCGCGGA GGCCGTGGCACACCTGCGGGAGGCAGCGACGGCCCCCACGCAGACGCCGGGAACGCAGGCCGCTTTATTCCTCTGTACTTAGATCAACTT GACCGTACTAAAATCCCTTTCTGTTTTAACCAGTTAAACATGCCTCTTCTACAGCTCCATTTTTGATAGTTGGATAATCCAGTATCTGCC AAGAGCATGTTGGGTCTCCCGTGACTGCTGCCTCATCGATACCCCATTTAGCTCCAGAAAGCAAAGAAAACTCGAGTAACACTTGTTTGA AAGAGATCATTAAATGTATTTTGCAAAGCCTAAA >5868_5868_2_ARFGEF2-FAM19A5_ARFGEF2_chr20_47538547_ENST00000371917_FAM19A5_chr22_49042409_ENST00000402357_length(amino acids)=271AA_BP= MRGPGSGLGSLESPRLSHSSPLASDFTRSLPPAHSVSLWSVKDGLRPWHPELRSVQPTRGGRTQTHRRGAAPGISNTQSVGARPRPAPAD RGVGPAVLRGGGGGGSSGSHRRLQPSPPETRRLPQGTVRHRSGLLPCPRLSELLLFSYTFSILHRPKSKIYLNLDAPSLSGSLGSLVRAG GQWWQRHAGGPGGAERAAVVEASTPGAPRAPSEDGLRLRGGRGTPAGGSDGPHADAGNAGRFIPLYLDQLDRTKIPFCFNQLNMPLLQLH F -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ARFGEF2-FAM19A5 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ARFGEF2-FAM19A5 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ARFGEF2-FAM19A5 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ARFGEF2 | C1842563 | Heterotopia, Periventricular, Autosomal Recessive | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ARFGEF2 | C1868720 | Periventricular Nodular Heterotopia | 2 | GENOMICS_ENGLAND;ORPHANET |