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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:EDF1-ZC3H3 (FusionGDB2 ID:24978)

Fusion Gene Summary for EDF1-ZC3H3

check button Fusion gene summary
Fusion gene informationFusion gene name: EDF1-ZC3H3
Fusion gene ID: 24978
HgeneTgene
Gene symbol

EDF1

ZC3H3

Gene ID

8721

23144

Gene nameendothelial differentiation related factor 1zinc finger CCCH-type containing 3
SynonymsCFAP280|EDF-1|MBF1SMICL|ZC3HDC3
Cytomap

9q34.3

8q24.3

Type of geneprotein-codingprotein-coding
Descriptionendothelial differentiation-related factor 1multiprotein bridging factor 1zinc finger CCCH domain-containing protein 3smad-interacting CPSF-like factorzinc finger CCCH-type domain containing 3
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000224073, ENST00000371649, 
ENST00000371648, 
ENST00000262577, 
Fusion gene scores* DoF score12 X 9 X 8=8648 X 7 X 6=336
# samples 149
** MAII scorelog2(14/864*10)=-2.6256044852185
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EDF1 [Title/Abstract] AND ZC3H3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEDF1(139757357)-ZC3H3(144550829), # samples:1
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
HgeneEDF1

GO:0043388

positive regulation of DNA binding

10567391


check buttonFusion gene breakpoints across EDF1 (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 ZC3H3 (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 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
ChimerDB4OVTCGA-24-1555EDF1chr9

139757357

-ZC3H3chr8

144550829

-


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Fusion Gene ORF analysis for EDF1-ZC3H3

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-frameENST00000224073ENST00000262577EDF1chr9

139757357

-ZC3H3chr8

144550829

-
In-frameENST00000371649ENST00000262577EDF1chr9

139757357

-ZC3H3chr8

144550829

-
intron-3CDSENST00000371648ENST00000262577EDF1chr9

139757357

-ZC3H3chr8

144550829

-

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)
ENST00000371649EDF1chr9139757357-ENST00000262577ZC3H3chr8144550829-1757412271355442
ENST00000224073EDF1chr9139757357-ENST00000262577ZC3H3chr8144550829-1758413281356442

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
ENST00000371649ENST00000262577EDF1chr9139757357-ZC3H3chr8144550829-0.124079120.87592083
ENST00000224073ENST00000262577EDF1chr9139757357-ZC3H3chr8144550829-0.123116480.8768835

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Fusion Genomic Features for EDF1-ZC3H3


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

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 EDF1-ZC3H3


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/chr9:139757357/chr8:144550829)
- 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
HgeneEDF1chr9:139757357chr8:144550829ENST00000224073-4592_111128149.0DNA bindingH-T-H motif
HgeneEDF1chr9:139757357chr8:144550829ENST00000224073-4581_88128149.0MotifNote=IQ motif
TgeneZC3H3chr9:139757357chr8:144550829ENST00000262577412873_881634949.0Compositional biasNote=Poly-Ser
TgeneZC3H3chr9:139757357chr8:144550829ENST00000262577412667_695634949.0Zinc fingerC3H1-type 1
TgeneZC3H3chr9:139757357chr8:144550829ENST00000262577412699_722634949.0Zinc fingerC3H1-type 2
TgeneZC3H3chr9:139757357chr8:144550829ENST00000262577412723_749634949.0Zinc fingerC3H1-type 3
TgeneZC3H3chr9:139757357chr8:144550829ENST00000262577412750_777634949.0Zinc fingerC3H1-type 4
TgeneZC3H3chr9:139757357chr8:144550829ENST00000262577412778_800634949.0Zinc fingerC3H1-type 5

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEDF1chr9:139757357chr8:144550829ENST00000371648-1492_1110140.0DNA bindingH-T-H motif
HgeneEDF1chr9:139757357chr8:144550829ENST00000224073-4581_135128149.0DomainHTH cro/C1-type
HgeneEDF1chr9:139757357chr8:144550829ENST00000371648-1481_1350140.0DomainHTH cro/C1-type
HgeneEDF1chr9:139757357chr8:144550829ENST00000371648-1481_880140.0MotifNote=IQ motif
TgeneZC3H3chr9:139757357chr8:144550829ENST00000262577412382_391634949.0Compositional biasNote=Poly-Ser


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Fusion Gene Sequence for EDF1-ZC3H3


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.
>24978_24978_1_EDF1-ZC3H3_EDF1_chr9_139757357_ENST00000224073_ZC3H3_chr8_144550829_ENST00000262577_length(transcript)=1758nt_BP=413nt
GCCGGACGGACGCTCGTCTTCGCCCGCCATGGCCGAGAGCGACTGGGACACGGTGACGGTGCTGCGCAAGAAGGGCCCTACGGCCGCCCA
GGCCAAATCCAAGCAGGCTATCTTAGCGGCACAGAGACGAGGAGAAGATGTGGAGACTTCCAAGAAATGGGCTGCTGGCCAGAACAAACA
ACATTCTATTACCAAGAACACGGCCAAGCTGGACCGGGAGACAGAGGAGCTGCACCATGACAGGGTGACCCTGGAGGTGGGCAAGGTGAT
CCAGCAAGGTCGGCAGAGCAAGGGGCTTACGCAGAAGGACCTGGCCACGAAAATCAATGAGAAGCCACAGGTGATCGCGGACTATGAGAG
CGGACGGGCCATACCCAATAACCAGGTGCTTGGCAAAATCGAGCGGGCCATTGGCCGGCTGGATCCTGCAGGCAGCTGTAGCCGTTCCCT
GGCCAGCCGGGCAGTGCAGCGCAGCCTGGCCATCATCCGGCAGGCGCGGCAGCGCAGGGAGAAGAGGAAGGAGTACTGCATGTACTACAA
CCGCTTCGGCAGGTGCAACCGTGGCGAGCGCTGCCCCTACATCCACGATCCCGAGAAGGTGGCCGTGTGCACCAGGTTTGTCCGGGGCAC
CTGCAAGAAAACGGATGGGACCTGCCCCTTCTCCCACCATGTGTCCAAGGAGAAGATGCCGGTGTGCTCCTACTTCCTGAAGGGCATCTG
CAGCAACAGCAACTGTCCCTATAGCCACGTGTACGTGTCCCGCAAGGCCGAGGTCTGCAGCGACTTCCTCAAAGGCTACTGCCCCCTGGG
TGCAAAGTGCAAGAAGAAACACACGCTGCTGTGCCCCGACTTTGCCCGCAGGGGGGCGTGTCCCCGCGGCGCCCAGTGCCAGCTGCTCCA
CCGTACCCAGAAACGCCACAGTCGGCGGGCAGCCACGTCCCCCGCCCCAGGGCCCAGCGACGCAACCGCCAGGAGCAGGGTCTCGGCCAG
CCACGGGCCCAGGAAGCCTTCAGCATCCCAGCGCCCCACCAGGCAGACGCCCAGCTCGGCTGCCCTCACTGCGGCTGCCGTGGCTGCACC
TCCCCACTGCCCAGGGGGGTCAGCCTCTCCCTCATCCTCGAAGGCTTCCTCCTCCTCCTCCTCCTCCTCATCCCCTCCCGCTTCCTTGGA
CCACGAGGCACCATCTCTCCAGGAGGCTGCCTTAGCAGCAGCGTGCTCCAACAGGCTCTGCAAGCTGCCTTCCTTCATCTCCCTGCAGTC
CTCGCCGAGCCCAGGAGCCCAGCCCAGGGTCCGGGCCCCTAGGGCCCCCCTCACCAAGGACTCAGGGAAGCCTCTGCACATCAAACCACG
TCTGTGAGGACCCCAGGGACCGGCCTGCACCTACCTCAGACCCTCATCCTTGGAGAGGAAAGAGGCTCTGTCCACCACTCTACCCCACAG
GAGGGCCGCCCGCCACCAAGCCTCACCTGGGGGCCACAGGGACACTGCTCTGCCTGCCTGGCCCTCAACCTTCCATGACCAGCGTGTGCG
CAGGGCCTGGTCTTCCTCCCCCAAGCCAGGCCCCTGTCCCCACCCCACCACCTTCCAGGGTGCCAGGCAGGGCTGGCCTCCAGGCCTGTC
CCCGACTGCCATTGGCAACAGTGGCCCTGCAGCCCCCAGCCCTCCCCACCCAGGTTTTCGGCCCAGTGAAGAGGCCACTGGCCAGGCCTC

>24978_24978_1_EDF1-ZC3H3_EDF1_chr9_139757357_ENST00000224073_ZC3H3_chr8_144550829_ENST00000262577_length(amino acids)=442AA_BP=128
MAESDWDTVTVLRKKGPTAAQAKSKQAILAAQRRGEDVETSKKWAAGQNKQHSITKNTAKLDRETEELHHDRVTLEVGKVIQQGRQSKGL
TQKDLATKINEKPQVIADYESGRAIPNNQVLGKIERAIGRLDPAGSCSRSLASRAVQRSLAIIRQARQRREKRKEYCMYYNRFGRCNRGE
RCPYIHDPEKVAVCTRFVRGTCKKTDGTCPFSHHVSKEKMPVCSYFLKGICSNSNCPYSHVYVSRKAEVCSDFLKGYCPLGAKCKKKHTL
LCPDFARRGACPRGAQCQLLHRTQKRHSRRAATSPAPGPSDATARSRVSASHGPRKPSASQRPTRQTPSSAALTAAAVAAPPHCPGGSAS

--------------------------------------------------------------
>24978_24978_2_EDF1-ZC3H3_EDF1_chr9_139757357_ENST00000371649_ZC3H3_chr8_144550829_ENST00000262577_length(transcript)=1757nt_BP=412nt
CCGGACGGACGCTCGTCTTCGCCCGCCATGGCCGAGAGCGACTGGGACACGGTGACGGTGCTGCGCAAGAAGGGCCCTACGGCCGCCCAG
GCCAAATCCAAGCAGGCTATCTTAGCGGCACAGAGACGAGGAGAAGATGTGGAGACTTCCAAGAAATGGGCTGCTGGCCAGAACAAACAA
CATTCTATTACCAAGAACACGGCCAAGCTGGACCGGGAGACAGAGGAGCTGCACCATGACAGGGTGACCCTGGAGGTGGGCAAGGTGATC
CAGCAAGGTCGGCAGAGCAAGGGGCTTACGCAGAAGGACCTGGCCACGAAAATCAATGAGAAGCCACAGGTGATCGCGGACTATGAGAGC
GGACGGGCCATACCCAATAACCAGGTGCTTGGCAAAATCGAGCGGGCCATTGGCCGGCTGGATCCTGCAGGCAGCTGTAGCCGTTCCCTG
GCCAGCCGGGCAGTGCAGCGCAGCCTGGCCATCATCCGGCAGGCGCGGCAGCGCAGGGAGAAGAGGAAGGAGTACTGCATGTACTACAAC
CGCTTCGGCAGGTGCAACCGTGGCGAGCGCTGCCCCTACATCCACGATCCCGAGAAGGTGGCCGTGTGCACCAGGTTTGTCCGGGGCACC
TGCAAGAAAACGGATGGGACCTGCCCCTTCTCCCACCATGTGTCCAAGGAGAAGATGCCGGTGTGCTCCTACTTCCTGAAGGGCATCTGC
AGCAACAGCAACTGTCCCTATAGCCACGTGTACGTGTCCCGCAAGGCCGAGGTCTGCAGCGACTTCCTCAAAGGCTACTGCCCCCTGGGT
GCAAAGTGCAAGAAGAAACACACGCTGCTGTGCCCCGACTTTGCCCGCAGGGGGGCGTGTCCCCGCGGCGCCCAGTGCCAGCTGCTCCAC
CGTACCCAGAAACGCCACAGTCGGCGGGCAGCCACGTCCCCCGCCCCAGGGCCCAGCGACGCAACCGCCAGGAGCAGGGTCTCGGCCAGC
CACGGGCCCAGGAAGCCTTCAGCATCCCAGCGCCCCACCAGGCAGACGCCCAGCTCGGCTGCCCTCACTGCGGCTGCCGTGGCTGCACCT
CCCCACTGCCCAGGGGGGTCAGCCTCTCCCTCATCCTCGAAGGCTTCCTCCTCCTCCTCCTCCTCCTCATCCCCTCCCGCTTCCTTGGAC
CACGAGGCACCATCTCTCCAGGAGGCTGCCTTAGCAGCAGCGTGCTCCAACAGGCTCTGCAAGCTGCCTTCCTTCATCTCCCTGCAGTCC
TCGCCGAGCCCAGGAGCCCAGCCCAGGGTCCGGGCCCCTAGGGCCCCCCTCACCAAGGACTCAGGGAAGCCTCTGCACATCAAACCACGT
CTGTGAGGACCCCAGGGACCGGCCTGCACCTACCTCAGACCCTCATCCTTGGAGAGGAAAGAGGCTCTGTCCACCACTCTACCCCACAGG
AGGGCCGCCCGCCACCAAGCCTCACCTGGGGGCCACAGGGACACTGCTCTGCCTGCCTGGCCCTCAACCTTCCATGACCAGCGTGTGCGC
AGGGCCTGGTCTTCCTCCCCCAAGCCAGGCCCCTGTCCCCACCCCACCACCTTCCAGGGTGCCAGGCAGGGCTGGCCTCCAGGCCTGTCC
CCGACTGCCATTGGCAACAGTGGCCCTGCAGCCCCCAGCCCTCCCCACCCAGGTTTTCGGCCCAGTGAAGAGGCCACTGGCCAGGCCTCC

>24978_24978_2_EDF1-ZC3H3_EDF1_chr9_139757357_ENST00000371649_ZC3H3_chr8_144550829_ENST00000262577_length(amino acids)=442AA_BP=128
MAESDWDTVTVLRKKGPTAAQAKSKQAILAAQRRGEDVETSKKWAAGQNKQHSITKNTAKLDRETEELHHDRVTLEVGKVIQQGRQSKGL
TQKDLATKINEKPQVIADYESGRAIPNNQVLGKIERAIGRLDPAGSCSRSLASRAVQRSLAIIRQARQRREKRKEYCMYYNRFGRCNRGE
RCPYIHDPEKVAVCTRFVRGTCKKTDGTCPFSHHVSKEKMPVCSYFLKGICSNSNCPYSHVYVSRKAEVCSDFLKGYCPLGAKCKKKHTL
LCPDFARRGACPRGAQCQLLHRTQKRHSRRAATSPAPGPSDATARSRVSASHGPRKPSASQRPTRQTPSSAALTAAAVAAPPHCPGGSAS

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

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Fusion Gene PPI Analysis for EDF1-ZC3H3


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
HgeneEDF1chr9:139757357chr8:144550829ENST00000224073-4537_113128.33333333333334149.0NR5A2%2C PPARG and NR1H3
HgeneEDF1chr9:139757357chr8:144550829ENST00000224073-4569_108128.33333333333334149.0TBP and NR5A1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneEDF1chr9:139757357chr8:144550829ENST00000371648-1437_1130140.0NR5A2%2C PPARG and NR1H3
HgeneEDF1chr9:139757357chr8:144550829ENST00000371648-1469_1080140.0TBP and NR5A1


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 EDF1-ZC3H3


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 EDF1-ZC3H3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource