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Fusion Protein:MCCC1-FXR1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: MCCC1-FXR1 | FusionPDB ID: 52136 | FusionGDB2.0 ID: 52136 | Hgene | Tgene | Gene symbol | MCCC1 | FXR1 | Gene ID | 56922 | 8087 |
Gene name | methylcrotonoyl-CoA carboxylase 1 | FMR1 autosomal homolog 1 | |
Synonyms | MCC-B|MCCA | FXR1P | |
Cytomap | 3q27.1 | 3q26.33 | |
Type of gene | protein-coding | protein-coding | |
Description | methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial3-methylcrotonyl-CoA carboxylase 13-methylcrotonyl-CoA carboxylase biotin-containing subunit3-methylcrotonyl-CoA:carbon dioxide ligase subunit alphaMCCase subunit alphamethylcrotonoyl-CoA ca | fragile X mental retardation syndrome-related protein 1fragile X mental retardation, autosomal homolog 1 | |
Modification date | 20200313 | 20200320 | |
UniProtAcc | Q96RQ3 | P51114 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000265594, ENST00000492597, ENST00000539926, ENST00000489909, | ENST00000445140, ENST00000468861, ENST00000480918, ENST00000491062, ENST00000491674, ENST00000305586, ENST00000357559, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 10 X 12 X 6=720 | 9 X 11 X 4=396 |
# samples | 14 | 11 | |
** MAII score | log2(14/720*10)=-2.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/396*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: MCCC1 [Title/Abstract] AND FXR1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MCCC1(182788787)-FXR1(180679256), # samples:3 FXR1(180630524)-MCCC1(182790275), # samples:4 | ||
Anticipated loss of major functional domain due to fusion event. | FXR1-MCCC1 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. FXR1-MCCC1 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. MCCC1-FXR1 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. MCCC1-FXR1 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. MCCC1-FXR1 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. MCCC1-FXR1 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. MCCC1-FXR1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. MCCC1-FXR1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. MCCC1-FXR1 seems lost the major protein functional domain in Tgene 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | FXR1 | GO:2000637 | positive regulation of gene silencing by miRNA | 17057366 |
![]() * 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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Fusion Gene Sample Information |
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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 | LUSC | TCGA-56-7223-01A | MCCC1 | chr3 | 182788787 | - | FXR1 | chr3 | 180679256 | + |
ChimerDB4 | LUSC | TCGA-56-7223 | MCCC1 | chr3 | 182788786 | - | FXR1 | chr3 | 180679255 | + |
ChimerDB4 | LUSC | TCGA-56-7223 | MCCC1 | chr3 | 182788787 | - | FXR1 | chr3 | 180679256 | + |
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Fusion ORF Analysis |
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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) |
ENST00000539926 | MCCC1 | chr3 | 182788787 | - | ENST00000357559 | FXR1 | chr3 | 180679256 | + | 7943 | 606 | 609 | 1481 | 290 |
ENST00000539926 | MCCC1 | chr3 | 182788787 | - | ENST00000305586 | FXR1 | chr3 | 180679256 | + | 2345 | 606 | 609 | 1481 | 290 |
ENST00000539926 | MCCC1 | chr3 | 182788786 | - | ENST00000357559 | FXR1 | chr3 | 180679255 | + | 7943 | 606 | 609 | 1481 | 290 |
ENST00000539926 | MCCC1 | chr3 | 182788786 | - | ENST00000305586 | FXR1 | chr3 | 180679255 | + | 2345 | 606 | 609 | 1481 | 290 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000539926 | ENST00000357559 | MCCC1 | chr3 | 182788787 | - | FXR1 | chr3 | 180679256 | + | 0.000262913 | 0.9997371 |
ENST00000539926 | ENST00000305586 | MCCC1 | chr3 | 182788787 | - | FXR1 | chr3 | 180679256 | + | 0.000730619 | 0.9992694 |
ENST00000539926 | ENST00000357559 | MCCC1 | chr3 | 182788786 | - | FXR1 | chr3 | 180679255 | + | 0.000262913 | 0.9997371 |
ENST00000539926 | ENST00000305586 | MCCC1 | chr3 | 182788786 | - | FXR1 | chr3 | 180679255 | + | 0.000730619 | 0.9992694 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >52136_52136_1_MCCC1-FXR1_MCCC1_chr3_182788786_ENST00000539926_FXR1_chr3_180679255_ENST00000305586_length(amino acids)=290AA_BP=0 MVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSD WSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRT DEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEE -------------------------------------------------------------- >52136_52136_2_MCCC1-FXR1_MCCC1_chr3_182788786_ENST00000539926_FXR1_chr3_180679255_ENST00000357559_length(amino acids)=290AA_BP=0 MVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSD WSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRT DEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEE -------------------------------------------------------------- >52136_52136_3_MCCC1-FXR1_MCCC1_chr3_182788787_ENST00000539926_FXR1_chr3_180679256_ENST00000305586_length(amino acids)=290AA_BP=0 MVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSD WSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRT DEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEE -------------------------------------------------------------- >52136_52136_4_MCCC1-FXR1_MCCC1_chr3_182788787_ENST00000539926_FXR1_chr3_180679256_ENST00000357559_length(amino acids)=290AA_BP=0 MVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSD WSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRT DEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEE -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr3:182788787/chr3:180679256) - 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 |
MCCC1 | FXR1 |
FUNCTION: Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. {ECO:0000269|PubMed:17360195}. | FUNCTION: RNA-binding protein required for embryonic and postnatal development of muscle tissue (PubMed:30770808). May regulate intracellular transport and local translation of certain mRNAs (By similarity). {ECO:0000250|UniProtKB:Q61584, ECO:0000269|PubMed:30770808}. |
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- 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 |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000305586 | 10 | 18 | 502_510 | 245.0 | 537.0 | Compositional bias | Note=Poly-Arg | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000357559 | 9 | 17 | 502_510 | 330.0 | 622.0 | Compositional bias | Note=Poly-Arg | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000445140 | 9 | 16 | 502_510 | 330.0 | 540.0 | Compositional bias | Note=Poly-Arg | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000305586 | 10 | 18 | 502_510 | 245.0 | 537.0 | Compositional bias | Note=Poly-Arg | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000357559 | 9 | 17 | 502_510 | 330.0 | 622.0 | Compositional bias | Note=Poly-Arg | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000445140 | 9 | 16 | 502_510 | 330.0 | 540.0 | Compositional bias | Note=Poly-Arg | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000305586 | 10 | 18 | 285_314 | 245.0 | 537.0 | Domain | KH 2 | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000305586 | 10 | 18 | 285_314 | 245.0 | 537.0 | Domain | KH 2 | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000305586 | 10 | 18 | 442_457 | 245.0 | 537.0 | Region | Note=RNA-binding RGG-box | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000357559 | 9 | 17 | 442_457 | 330.0 | 622.0 | Region | Note=RNA-binding RGG-box | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000445140 | 9 | 16 | 442_457 | 330.0 | 540.0 | Region | Note=RNA-binding RGG-box | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000305586 | 10 | 18 | 442_457 | 245.0 | 537.0 | Region | Note=RNA-binding RGG-box | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000357559 | 9 | 17 | 442_457 | 330.0 | 622.0 | Region | Note=RNA-binding RGG-box | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000445140 | 9 | 16 | 442_457 | 330.0 | 540.0 | Region | Note=RNA-binding RGG-box |
- 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 | MCCC1 | chr3:182788786 | chr3:180679255 | ENST00000265594 | - | 7 | 19 | 167_364 | 253.66666666666666 | 726.0 | Domain | ATP-grasp |
Hgene | MCCC1 | chr3:182788786 | chr3:180679255 | ENST00000265594 | - | 7 | 19 | 48_494 | 253.66666666666666 | 726.0 | Domain | Note=Biotin carboxylation |
Hgene | MCCC1 | chr3:182788786 | chr3:180679255 | ENST00000265594 | - | 7 | 19 | 643_715 | 253.66666666666666 | 726.0 | Domain | Biotinyl-binding |
Hgene | MCCC1 | chr3:182788787 | chr3:180679256 | ENST00000265594 | - | 7 | 19 | 167_364 | 253.66666666666666 | 726.0 | Domain | ATP-grasp |
Hgene | MCCC1 | chr3:182788787 | chr3:180679256 | ENST00000265594 | - | 7 | 19 | 48_494 | 253.66666666666666 | 726.0 | Domain | Note=Biotin carboxylation |
Hgene | MCCC1 | chr3:182788787 | chr3:180679256 | ENST00000265594 | - | 7 | 19 | 643_715 | 253.66666666666666 | 726.0 | Domain | Biotinyl-binding |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000305586 | 10 | 18 | 50_53 | 245.0 | 537.0 | Compositional bias | Note=Poly-Pro | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000357559 | 9 | 17 | 50_53 | 330.0 | 622.0 | Compositional bias | Note=Poly-Pro | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000445140 | 9 | 16 | 50_53 | 330.0 | 540.0 | Compositional bias | Note=Poly-Pro | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000305586 | 10 | 18 | 50_53 | 245.0 | 537.0 | Compositional bias | Note=Poly-Pro | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000357559 | 9 | 17 | 50_53 | 330.0 | 622.0 | Compositional bias | Note=Poly-Pro | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000445140 | 9 | 16 | 50_53 | 330.0 | 540.0 | Compositional bias | Note=Poly-Pro | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000305586 | 10 | 18 | 222_251 | 245.0 | 537.0 | Domain | KH 1 | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000305586 | 10 | 18 | 4_50 | 245.0 | 537.0 | Domain | Agenet-like 1 | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000305586 | 10 | 18 | 63_115 | 245.0 | 537.0 | Domain | Agenet-like 2 | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000357559 | 9 | 17 | 222_251 | 330.0 | 622.0 | Domain | KH 1 | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000357559 | 9 | 17 | 285_314 | 330.0 | 622.0 | Domain | KH 2 | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000357559 | 9 | 17 | 4_50 | 330.0 | 622.0 | Domain | Agenet-like 1 | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000357559 | 9 | 17 | 63_115 | 330.0 | 622.0 | Domain | Agenet-like 2 | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000445140 | 9 | 16 | 222_251 | 330.0 | 540.0 | Domain | KH 1 | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000445140 | 9 | 16 | 285_314 | 330.0 | 540.0 | Domain | KH 2 | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000445140 | 9 | 16 | 4_50 | 330.0 | 540.0 | Domain | Agenet-like 1 | |
Tgene | FXR1 | chr3:182788786 | chr3:180679255 | ENST00000445140 | 9 | 16 | 63_115 | 330.0 | 540.0 | Domain | Agenet-like 2 | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000305586 | 10 | 18 | 222_251 | 245.0 | 537.0 | Domain | KH 1 | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000305586 | 10 | 18 | 4_50 | 245.0 | 537.0 | Domain | Agenet-like 1 | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000305586 | 10 | 18 | 63_115 | 245.0 | 537.0 | Domain | Agenet-like 2 | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000357559 | 9 | 17 | 222_251 | 330.0 | 622.0 | Domain | KH 1 | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000357559 | 9 | 17 | 285_314 | 330.0 | 622.0 | Domain | KH 2 | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000357559 | 9 | 17 | 4_50 | 330.0 | 622.0 | Domain | Agenet-like 1 | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000357559 | 9 | 17 | 63_115 | 330.0 | 622.0 | Domain | Agenet-like 2 | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000445140 | 9 | 16 | 222_251 | 330.0 | 540.0 | Domain | KH 1 | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000445140 | 9 | 16 | 285_314 | 330.0 | 540.0 | Domain | KH 2 | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000445140 | 9 | 16 | 4_50 | 330.0 | 540.0 | Domain | Agenet-like 1 | |
Tgene | FXR1 | chr3:182788787 | chr3:180679256 | ENST00000445140 | 9 | 16 | 63_115 | 330.0 | 540.0 | Domain | Agenet-like 2 |
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Fusion Protein Structures |
![]() * Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
Fusion protein PDB link (fusion AA seq ID in FusionPDB) | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | AA seq | Len(AA seq) |
PDB file >>>510_MCCC1_182788787_FXR1_180679256_ranked_0.pdb | MCCC1 | 182788786 | 182788787 | ENST00000305586 | FXR1 | chr3 | 180679256 | + | MVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSD WSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRT DEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEE | 290 |
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pLDDT score distribution |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
MCCC1_pLDDT.png![]() |
FXR1_pLDDT.png![]() |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
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Ramachandran Plot of Fusion Protein Structure |
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Fusion AA seq ID in FusionPDB and their Ramachandran plots |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
MCCC1 | |
FXR1 |
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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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Related Drugs to MCCC1-FXR1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to MCCC1-FXR1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |