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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:CHD8-AP1S1 (FusionGDB2 ID:16385)

Fusion Gene Summary for CHD8-AP1S1

check button Fusion gene summary
Fusion gene informationFusion gene name: CHD8-AP1S1
Fusion gene ID: 16385
HgeneTgene
Gene symbol

CHD8

AP1S1

Gene ID

57680

1174

Gene namechromodomain helicase DNA binding protein 8adaptor related protein complex 1 subunit sigma 1
SynonymsAUTS18|HELSNF1AP19|CLAPS1|EKV3|MEDNIK|SIGMA1A
Cytomap

14q11.2

7q22.1

Type of geneprotein-codingprotein-coding
Descriptionchromodomain-helicase-DNA-binding protein 8ATP-dependent helicase CHD8axis duplication inhibitorduplinhelicase with SNF2 domain 1AP-1 complex subunit sigma-1AHA1 19 kDa subunitadapter-related protein complex 1 sigma-1A subunitadaptor protein complex AP-1 subunit sigma-1Aadaptor related protein complex 1 sigma 1 subunitadaptor-related protein complex 1 subunit sigma-1Aclathrin
Modification date2020032920200313
UniProtAcc

Q9HCK8

P61966

Ensembl transtripts involved in fusion geneENST00000430710, ENST00000557364, 
ENST00000399982, ENST00000555962, 
ENST00000337619, 
Fusion gene scores* DoF score12 X 12 X 10=14403 X 3 X 2=18
# samples 183
** MAII scorelog2(18/1440*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CHD8 [Title/Abstract] AND AP1S1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHD8(21878010)-AP1S1(100803800), # samples:3
Anticipated loss of major functional domain due to fusion event.CHD8-AP1S1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
CHD8-AP1S1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted 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
HgeneCHD8

GO:0045893

positive regulation of transcription, DNA-templated

17938208

HgeneCHD8

GO:0090090

negative regulation of canonical Wnt signaling pathway

18378692|22083958


check buttonFusion gene breakpoints across CHD8 (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 AP1S1 (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
ChimerDB4PRADTCGA-HC-7077-01ACHD8chr14

21878010

-AP1S1chr7

100803800

+
ChimerDB4PRADTCGA-HC-7077CHD8chr14

21878010

-AP1S1chr7

100803800

+


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Fusion Gene ORF analysis for CHD8-AP1S1

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
Frame-shiftENST00000430710ENST00000337619CHD8chr14

21878010

-AP1S1chr7

100803800

+
Frame-shiftENST00000557364ENST00000337619CHD8chr14

21878010

-AP1S1chr7

100803800

+
In-frameENST00000399982ENST00000337619CHD8chr14

21878010

-AP1S1chr7

100803800

+
intron-3CDSENST00000555962ENST00000337619CHD8chr14

21878010

-AP1S1chr7

100803800

+

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)
ENST00000399982CHD8chr1421878010-ENST00000337619AP1S1chr7100803800+31882429652476803

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
ENST00000399982ENST00000337619CHD8chr1421878010-AP1S1chr7100803800+0.0014734950.99852645

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Fusion Genomic Features for CHD8-AP1S1


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)
CHD8chr1421878009-AP1S1chr7100803799+0.0001997210.99980026
CHD8chr1421878009-AP1S1chr7100803799+0.0001997210.99980026
CHD8chr1421878009-AP1S1chr7100803799+0.0001997210.99980026
CHD8chr1421878009-AP1S1chr7100803799+0.0001997210.99980026

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.
genomic feature of top 1%

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Fusion Protein Features for CHD8-AP1S1


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/chr14:21878010/chr7:100803800)
- 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
CHD8

Q9HCK8

AP1S1

P61966

FUNCTION: DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription. {ECO:0000255|HAMAP-Rule:MF_03071, ECO:0000269|PubMed:17938208, ECO:0000269|PubMed:18378692}.FUNCTION: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. {ECO:0000269|PubMed:9733768}.

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
HgeneCHD8chr14:21878010chr7:100803800ENST00000399982-1037292_4107882582.0Compositional biasGln-rich
HgeneCHD8chr14:21878010chr7:100803800ENST00000430710-1138292_4105092303.0Compositional biasGln-rich
HgeneCHD8chr14:21878010chr7:100803800ENST00000557364-1138292_4107882582.0Compositional biasGln-rich
HgeneCHD8chr14:21878010chr7:100803800ENST00000399982-1037642_7097882582.0DomainChromo 1
HgeneCHD8chr14:21878010chr7:100803800ENST00000399982-1037724_7907882582.0DomainChromo 2
HgeneCHD8chr14:21878010chr7:100803800ENST00000557364-1138642_7097882582.0DomainChromo 1
HgeneCHD8chr14:21878010chr7:100803800ENST00000557364-1138724_7907882582.0DomainChromo 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCHD8chr14:21878010chr7:100803800ENST00000399982-10372069_20987882582.0Compositional biasSer-rich
HgeneCHD8chr14:21878010chr7:100803800ENST00000399982-10372493_25087882582.0Compositional biasHis-rich
HgeneCHD8chr14:21878010chr7:100803800ENST00000399982-10372539_25817882582.0Compositional biasAsp-rich
HgeneCHD8chr14:21878010chr7:100803800ENST00000430710-11382069_20985092303.0Compositional biasSer-rich
HgeneCHD8chr14:21878010chr7:100803800ENST00000430710-11382493_25085092303.0Compositional biasHis-rich
HgeneCHD8chr14:21878010chr7:100803800ENST00000430710-11382539_25815092303.0Compositional biasAsp-rich
HgeneCHD8chr14:21878010chr7:100803800ENST00000557364-11382069_20987882582.0Compositional biasSer-rich
HgeneCHD8chr14:21878010chr7:100803800ENST00000557364-11382493_25087882582.0Compositional biasHis-rich
HgeneCHD8chr14:21878010chr7:100803800ENST00000557364-11382539_25817882582.0Compositional biasAsp-rich
HgeneCHD8chr14:21878010chr7:100803800ENST00000399982-10371137_12887882582.0DomainHelicase C-terminal
HgeneCHD8chr14:21878010chr7:100803800ENST00000399982-1037823_9977882582.0DomainHelicase ATP-binding
HgeneCHD8chr14:21878010chr7:100803800ENST00000430710-11381137_12885092303.0DomainHelicase C-terminal
HgeneCHD8chr14:21878010chr7:100803800ENST00000430710-1138642_7095092303.0DomainChromo 1
HgeneCHD8chr14:21878010chr7:100803800ENST00000430710-1138724_7905092303.0DomainChromo 2
HgeneCHD8chr14:21878010chr7:100803800ENST00000430710-1138823_9975092303.0DomainHelicase ATP-binding
HgeneCHD8chr14:21878010chr7:100803800ENST00000557364-11381137_12887882582.0DomainHelicase C-terminal
HgeneCHD8chr14:21878010chr7:100803800ENST00000557364-1138823_9977882582.0DomainHelicase ATP-binding
HgeneCHD8chr14:21878010chr7:100803800ENST00000399982-1037948_9517882582.0MotifDEAH box
HgeneCHD8chr14:21878010chr7:100803800ENST00000430710-1138948_9515092303.0MotifDEAH box
HgeneCHD8chr14:21878010chr7:100803800ENST00000557364-1138948_9517882582.0MotifDEAH box
HgeneCHD8chr14:21878010chr7:100803800ENST00000399982-1037836_8437882582.0Nucleotide bindingATP
HgeneCHD8chr14:21878010chr7:100803800ENST00000430710-1138836_8435092303.0Nucleotide bindingATP
HgeneCHD8chr14:21878010chr7:100803800ENST00000557364-1138836_8437882582.0Nucleotide bindingATP


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Fusion Gene Sequence for CHD8-AP1S1


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.
>16385_16385_1_CHD8-AP1S1_CHD8_chr14_21878010_ENST00000399982_AP1S1_chr7_100803800_ENST00000337619_length(transcript)=3188nt_BP=2429nt
GCCAGTACCCCCCCTCCCCTTCCCTCCCTAGACCTTGGAGAAGTACCCTCCATTACTTTCCCAAGATGGCAGACCCCATCATGGATCTGT
TCGATGACCCAAATTTATTTGGCCTGGACTCTCTGACTGATGACAGCTTTAACCAGGTCACACAAGACCCCATTGAGGAAGCCCTTGGAC
TGCCAAGCTCTCTGGACTCCTTGGATCAGATGAACCAGGATGGTGGAGGTGGTGATGTGGGGAATTCATCAGCAAGTGAACTGGTCCCTC
CACCAGAGGAAACAGCTCCCACAGAACTTTCCAAAGAATCCACAGCTCCAGCTCCAGAATCCATAACCTTGCATGATTATACCACTCAGC
CTGCCAGCCAGGAGCAGCCAGCCCAACCTGTCTTACAGACATCGACGCCAACATCAGGACTTTTGCAAGTCTCCAAGAGCCAGGAGATCC
TGAGCCAAGGGAATCCTTTCATGGGTGTCTCTGCCACAGCTGTCTCCTCCAGTAGTGCTGGAGGGCAGCCACCTCAGTCAGCCCCTAAGA
TTGTTATCCTTAAGGCCCCACCAAGCTCCTCAGTCACTGGTGCCCATGTGGCACAAATTCAGGCCCAAGGTATCACCAGCACAGCTCAGC
CCCTGGTGGCAGGCACAGCCAATGGTGGAAAAGTCACTTTTACCAAAGTGCTAACCGGCACACCCCTTCGACCAGGTGTTTCCATTGTCT
CTGGTAATACAGTGTTGGCCGCCAAGGTCCCTGGGAACCAGGCTGCTGTTCAGCGCATTGTCCAGCCCAGCCGACCAGTAAAGCAGCTGG
TCCTCCAGCCAGTTAAGGGTTCAGCTCCTGCTGGAAACCCTGGGGCCACAGGGCCCCCACTGAAGCCTGCAGTTACACTGACCTCTACAC
CTACCCAGGGTGAATCGAAACGCATCACCCTGGTCCTCCAGCAGCCACAGTCTGGAGGTCCCCAAGGACATCGGCATGTTGTGCTAGGGA
GTCTACCAGGCAAGATAGTGTTACAGGGCAACCAGCTGGCAGCCCTGACTCAAGCCAAGAATGCCCAAGGGCAGCCTGCCAAGGTAGTAA
CTATCCAGCTGCAGGTGCAGCAGCCACAGCAAAAAATCCAGATTGTACCACAACCACCATCATCGCAGCCACAGCCCCAGCAGCCACCCT
CCACCCAGCCAGTGACTCTGTCCTCTGTACAGCAGGCTCAGATAATGGGACCAGGACAAAGCCCAGGACAAAGACTTTCAGTACCAGTCA
AGGTGGTACTGCAGCCACAGGCTGGCTCTTCCCAAGGGGCCTCTTCTGGGCTCTCTGTAGTTAAAGTTCTGAGTGCCAGTGAAGTGGCAG
CTTTGTCATCACCAGCAAGCTCTGCTCCTCATTCGGGGGGAAAGACAGGAATGGAGGAAAACCGCAGATTGGAACACCAGAAGAAGCAAG
AGAAAGCAAATCGGATTGTAGCAGAGGCCATTGCGAGAGCCCGTGCCCGCGGTGAGCAGAACATACCTCGAGTCTTAAATGAGGACGAGT
TGCCCAGCGTTCGGCCAGAGGAGGAAGGCGAGAAGAAACGCAGGAAGAAGAGTGCTGGGGAGAGGCTGAAAGAGGAGAAGCCAAAGAAGA
GTAAAACATCTGGTGCCTCCAAAACAAAGGGCAAGAGCAAGCTCAACACCATCACTCCTGTAGTGGGTAAGAAGAGAAAACGTAATACCT
CATCTGATAATTCAGATGTGGAAGTCATGCCTGCACAGTCACCTCGAGAAGATGAAGAAAGCAGCATTCAGAAGAGACGCTCAAACCGCC
AAGTTAAGCGAAAAAAATATACAGAGGACCTGGATATAAAGATCACAGATGATGAAGAAGAAGAAGAGGTGGATGTAACTGGTCCAATAA
AACCTGAGCCTATCCTCCCTGAACCAGTGCAAGAACCAGATGGCGAGACTTTGCCTTCCATGCAGTTCTTTGTGGAGAATCCCAGTGAAG
AAGATGCAGCCATTGTAGACAAAGTGCTTTCTATGCGGATTGTGAAGAAGGAGCTCCCTTCTGGACAATATACTGAAGCAGAAGAATTCT
TTGTCAAGTACAAGAACTACTCCTATCTGCATTGTGAATGGGCTACTATCTCCCAACTAGAGAAGGATAAGAGGATACATCAAAAATTAA
AGCGCTTCAAAACCAAAATGGCTCAGATGAGACACTTCTTCCATGAGGATGAAGAGCCCTTTAATCCAGACTACGTAGAGGTGGATAGGA
TATTGGATGAGTCTCACAGTATTGACAAGGACAATGGGGAGCCCGTTATTTACTACCTGGTGAAATGGTGCTCTCTGCCCTATGAGGATA
GCACATGGGAGCTAAAAGAAGATGTTGATGAGGGCAAGATTCGAGAATTTAAACGGATTCAGTCAAGGCACCCAGAACTCAAAAGGGTGG
AGGATGAGTCGCCACGGAGTGTGCTGGAGGAGATGGGTTTGGCATAGCCCCTGCTGGGCCGGGGTGTGGCGATGGGGTCCTGGCAGCGTG
GCGGGAACGGCTGCTTCTCCTCTGCCCAGGGCCCTGTTCTTGGTGGGACTCGGCTGCCCCTCCTCTGCTGCCTCACCTTTCGGAGTGAGC
TGTGGGCTCAGGCCCTTCAAACATTCCCTCCCTCCACCCCCTACCTCCACTTTCCCCTTTTCCCACTGAAGGTTTTAGAAGCTAGGAGGC
AGGAAAATGTGACCCAGATGGGGGTGCTATTTGGCTTTTATTCCCTGCCTTTGCAGAACTGATGTCACCCCAGATGTCCTTCCCTCCCTA
ATAACTGTAAATATATAAATATGTCAGGTTAAAGGGAAAAGGTGTTCAGGGCACTTCTTGTCCTCTCTGTCCCATAACCTACCTCCACCC
TCCCCCTAGCCAGCCAGGCAGCTTCTCTGCCTGGGAGGGGAGCCTGGACCCCCCTCTTTCTCCTTGGCTGCAGTGGGGCCTTTATCCAGT
GCCAGGGAGGAACAACATAGTTAATTTTTTTCTAACCTTGCCACTTTGAGGGAAGGAAGGGTTGGGGGAAGGGCAAGCTTTATGGGACCC
TGGTCCTGGCCCTGGCCTTTCACTCCAGTTCTGGGTGAGGCAGGAGCTGGGAGGGGTGGGGAGGGGGAGGGGGAAGTGTCTGCCTTTATG

>16385_16385_1_CHD8-AP1S1_CHD8_chr14_21878010_ENST00000399982_AP1S1_chr7_100803800_ENST00000337619_length(amino acids)=803AA_BP=788
MADPIMDLFDDPNLFGLDSLTDDSFNQVTQDPIEEALGLPSSLDSLDQMNQDGGGGDVGNSSASELVPPPEETAPTELSKESTAPAPESI
TLHDYTTQPASQEQPAQPVLQTSTPTSGLLQVSKSQEILSQGNPFMGVSATAVSSSSAGGQPPQSAPKIVILKAPPSSSVTGAHVAQIQA
QGITSTAQPLVAGTANGGKVTFTKVLTGTPLRPGVSIVSGNTVLAAKVPGNQAAVQRIVQPSRPVKQLVLQPVKGSAPAGNPGATGPPLK
PAVTLTSTPTQGESKRITLVLQQPQSGGPQGHRHVVLGSLPGKIVLQGNQLAALTQAKNAQGQPAKVVTIQLQVQQPQQKIQIVPQPPSS
QPQPQQPPSTQPVTLSSVQQAQIMGPGQSPGQRLSVPVKVVLQPQAGSSQGASSGLSVVKVLSASEVAALSSPASSAPHSGGKTGMEENR
RLEHQKKQEKANRIVAEAIARARARGEQNIPRVLNEDELPSVRPEEEGEKKRRKKSAGERLKEEKPKKSKTSGASKTKGKSKLNTITPVV
GKKRKRNTSSDNSDVEVMPAQSPREDEESSIQKRRSNRQVKRKKYTEDLDIKITDDEEEEEVDVTGPIKPEPILPEPVQEPDGETLPSMQ
FFVENPSEEDAAIVDKVLSMRIVKKELPSGQYTEAEEFFVKYKNYSYLHCEWATISQLEKDKRIHQKLKRFKTKMAQMRHFFHEDEEPFN

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Fusion Gene PPI Analysis for CHD8-AP1S1


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
HgeneCHD8chr14:21878010chr7:100803800ENST00000399982-10371789_2302788.02582.0FAM124B
HgeneCHD8chr14:21878010chr7:100803800ENST00000430710-11381789_2302509.02303.0FAM124B
HgeneCHD8chr14:21878010chr7:100803800ENST00000557364-11381789_2302788.02582.0FAM124B


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 CHD8-AP1S1


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 CHD8-AP1S1


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