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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for TBL1XR1 |
 Gene summary |
| Gene information | Gene symbol | TBL1XR1 | Gene ID | 79718 |
| Gene name | transducin beta like 1 X-linked receptor 1 | |
| Synonyms | C21|DC42|IRA1|MRD41|TBLR1 | |
| Cytomap | 3q26.32 | |
| Type of gene | protein-coding | |
| Description | F-box-like/WD repeat-containing protein TBL1XR1TBL1-related protein 1nuclear receptor co-repressor/HDAC3 complex subunitnuclear receptor corepressor/HDAC3 complex subunit TBLR1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BZK7 | |
| Context | PubMed: TBL1XR1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| TBL1XR1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12628926 |
| TBL1XR1 | GO:0045893 | positive regulation of transcription, DNA-templated | 18193033 |
| TBL1XR1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 18193033 |
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Exon skipping events across known transcript of Ensembl for TBL1XR1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for TBL1XR1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TBL1XR1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_390103 | 3 | 176751985:176752113:176755885:176755960:176756100:176756222 | 176755885:176755960 | ENSG00000177565.11 | ENST00000457928.2,ENST00000430069.1 |
| exon_skip_390105 | 3 | 176768345:176768398:176769291:176769514:176771560:176771706 | 176769291:176769514 | ENSG00000177565.11 | ENST00000428970.1,ENST00000424913.1,ENST00000457928.2,ENST00000430069.1 |
| exon_skip_390107 | 3 | 176771665:176771706:176782707:176782810:176797614:176797733 | 176782707:176782810 | ENSG00000177565.11 | ENST00000450267.1,ENST00000422442.1,ENST00000443315.1 |
| exon_skip_390109 | 3 | 176771665:176771706:176782707:176782810:176816253:176816329 | 176782707:176782810 | ENSG00000177565.11 | ENST00000457928.2,ENST00000430069.1,ENST00000422066.1 |
| exon_skip_390112 | 3 | 176771665:176771706:176782707:176782810:176914127:176914211 | 176782707:176782810 | ENSG00000177565.11 | ENST00000437738.1 |
| exon_skip_390113 | 3 | 176771665:176771706:176782707:176782810:176914908:176914971 | 176782707:176782810 | ENSG00000177565.11 | ENST00000352800.5 |
| exon_skip_390126 | 3 | 176771665:176771706:176816253:176816329:176914127:176914211 | 176816253:176816329 | ENSG00000177565.11 | ENST00000424913.1 |
| exon_skip_390127 | 3 | 176771665:176771706:176816253:176816329:176914908:176914971 | 176816253:176816329 | ENSG00000177565.11 | ENST00000431421.1 |
| exon_skip_390135 | 3 | 176782707:176782810:176796419:176796566:176797614:176797733 | 176796419:176796566 | ENSG00000177565.11 | ENST00000413084.1 |
| exon_skip_390138 | 3 | 176782707:176782810:176797614:176797733:176816253:176816329 | 176797614:176797733 | ENSG00000177565.11 | ENST00000422442.1,ENST00000443315.1 |
| exon_skip_390142 | 3 | 176782707:176782810:176797614:176797733:176914908:176914971 | 176797614:176797733 | ENSG00000177565.11 | ENST00000450267.1 |
| exon_skip_390145 | 3 | 176782707:176782810:176804752:176804829:176816253:176816329 | 176804752:176804829 | ENSG00000177565.11 | ENST00000431674.1 |
| exon_skip_390147 | 3 | 176782707:176782810:176808938:176808968:176816253:176816329 | 176808938:176808968 | ENSG00000177565.11 | ENST00000427349.1 |
| exon_skip_390156 | 3 | 176782707:176782810:176816253:176816329:176878658:176878776 | 176816253:176816329 | ENSG00000177565.11 | ENST00000422066.1 |
| exon_skip_390158 | 3 | 176782707:176782810:176816253:176816329:176914908:176914971 | 176816253:176816329 | ENSG00000177565.11 | ENST00000457928.2 |
| exon_skip_390183 | 3 | 176797614:176797733:176816253:176816329:176914127:176914211 | 176816253:176816329 | ENSG00000177565.11 | ENST00000443315.1 |
| exon_skip_390184 | 3 | 176797614:176797733:176816253:176816329:176914908:176914971 | 176816253:176816329 | ENSG00000177565.11 | ENST00000422442.1,ENST00000413084.1 |
| exon_skip_390200 | 3 | 176816253:176816329:176849150:176849237:176914908:176914971 | 176849150:176849237 | ENSG00000177565.11 | ENST00000427349.1 |
| exon_skip_390206 | 3 | 176816253:176816329:176878658:176878776:176914908:176914971 | 176878658:176878776 | ENSG00000177565.11 | ENST00000422066.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TBL1XR1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_390103 | 3 | 176751985:176752113:176755885:176755960:176756100:176756222 | 176755885:176755960 | ENSG00000177565.11 | ENST00000430069.1,ENST00000457928.2 |
| exon_skip_390105 | 3 | 176768345:176768398:176769291:176769514:176771560:176771706 | 176769291:176769514 | ENSG00000177565.11 | ENST00000430069.1,ENST00000457928.2,ENST00000428970.1,ENST00000424913.1 |
| exon_skip_390107 | 3 | 176771665:176771706:176782707:176782810:176797614:176797733 | 176782707:176782810 | ENSG00000177565.11 | ENST00000450267.1,ENST00000443315.1,ENST00000422442.1 |
| exon_skip_390109 | 3 | 176771665:176771706:176782707:176782810:176816253:176816329 | 176782707:176782810 | ENSG00000177565.11 | ENST00000430069.1,ENST00000457928.2,ENST00000422066.1 |
| exon_skip_390112 | 3 | 176771665:176771706:176782707:176782810:176914127:176914211 | 176782707:176782810 | ENSG00000177565.11 | ENST00000437738.1 |
| exon_skip_390113 | 3 | 176771665:176771706:176782707:176782810:176914908:176914971 | 176782707:176782810 | ENSG00000177565.11 | ENST00000352800.5 |
| exon_skip_390126 | 3 | 176771665:176771706:176816253:176816329:176914127:176914211 | 176816253:176816329 | ENSG00000177565.11 | ENST00000424913.1 |
| exon_skip_390127 | 3 | 176771665:176771706:176816253:176816329:176914908:176914971 | 176816253:176816329 | ENSG00000177565.11 | ENST00000431421.1 |
| exon_skip_390135 | 3 | 176782707:176782810:176796419:176796566:176797614:176797733 | 176796419:176796566 | ENSG00000177565.11 | ENST00000413084.1 |
| exon_skip_390138 | 3 | 176782707:176782810:176797614:176797733:176816253:176816329 | 176797614:176797733 | ENSG00000177565.11 | ENST00000443315.1,ENST00000422442.1 |
| exon_skip_390142 | 3 | 176782707:176782810:176797614:176797733:176914908:176914971 | 176797614:176797733 | ENSG00000177565.11 | ENST00000450267.1 |
| exon_skip_390145 | 3 | 176782707:176782810:176804752:176804829:176816253:176816329 | 176804752:176804829 | ENSG00000177565.11 | ENST00000431674.1 |
| exon_skip_390147 | 3 | 176782707:176782810:176808938:176808968:176816253:176816329 | 176808938:176808968 | ENSG00000177565.11 | ENST00000427349.1 |
| exon_skip_390156 | 3 | 176782707:176782810:176816253:176816329:176878658:176878776 | 176816253:176816329 | ENSG00000177565.11 | ENST00000422066.1 |
| exon_skip_390158 | 3 | 176782707:176782810:176816253:176816329:176914908:176914971 | 176816253:176816329 | ENSG00000177565.11 | ENST00000457928.2 |
| exon_skip_390183 | 3 | 176797614:176797733:176816253:176816329:176914127:176914211 | 176816253:176816329 | ENSG00000177565.11 | ENST00000443315.1 |
| exon_skip_390184 | 3 | 176797614:176797733:176816253:176816329:176914908:176914971 | 176816253:176816329 | ENSG00000177565.11 | ENST00000422442.1,ENST00000413084.1 |
| exon_skip_390200 | 3 | 176816253:176816329:176849150:176849237:176914908:176914971 | 176849150:176849237 | ENSG00000177565.11 | ENST00000427349.1 |
| exon_skip_390206 | 3 | 176816253:176816329:176878658:176878776:176914908:176914971 | 176878658:176878776 | ENSG00000177565.11 | ENST00000422066.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for TBL1XR1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000430069 | 176782707 | 176782810 | 3UTR-3CDS |
| ENST00000457928 | 176782707 | 176782810 | 3UTR-3CDS |
| ENST00000457928 | 176816253 | 176816329 | 3UTR-3UTR |
| ENST00000430069 | 176769291 | 176769514 | Frame-shift |
| ENST00000457928 | 176769291 | 176769514 | Frame-shift |
| ENST00000430069 | 176755885 | 176755960 | In-frame |
| ENST00000457928 | 176755885 | 176755960 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000430069 | 176782707 | 176782810 | 3UTR-3CDS |
| ENST00000457928 | 176782707 | 176782810 | 3UTR-3CDS |
| ENST00000457928 | 176816253 | 176816329 | 3UTR-3UTR |
| ENST00000430069 | 176769291 | 176769514 | Frame-shift |
| ENST00000457928 | 176769291 | 176769514 | Frame-shift |
| ENST00000430069 | 176755885 | 176755960 | In-frame |
| ENST00000457928 | 176755885 | 176755960 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TBL1XR1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000430069 | 7965 | 514 | 176755885 | 176755960 | 1308 | 1382 | 349 | 374 |
| ENST00000457928 | 4209 | 514 | 176755885 | 176755960 | 1517 | 1591 | 349 | 374 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000430069 | 7965 | 514 | 176755885 | 176755960 | 1308 | 1382 | 349 | 374 |
| ENST00000457928 | 4209 | 514 | 176755885 | 176755960 | 1517 | 1591 | 349 | 374 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9BZK7 | 349 | 374 | 352 | 357 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 374 | 352 | 357 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 374 | 361 | 368 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 374 | 361 | 368 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 374 | 371 | 377 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 374 | 371 | 377 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 374 | 2 | 514 | Chain | ID=PRO_0000051266;Note=F-box-like/WD repeat-containing protein TBL1XR1 |
| Q9BZK7 | 349 | 374 | 2 | 514 | Chain | ID=PRO_0000051266;Note=F-box-like/WD repeat-containing protein TBL1XR1 |
| Q9BZK7 | 349 | 374 | 347 | 386 | Repeat | Note=WD 5 |
| Q9BZK7 | 349 | 374 | 347 | 386 | Repeat | Note=WD 5 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9BZK7 | 349 | 374 | 352 | 357 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 374 | 352 | 357 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 374 | 361 | 368 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 374 | 361 | 368 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 374 | 371 | 377 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 374 | 371 | 377 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LG9 |
| Q9BZK7 | 349 | 374 | 2 | 514 | Chain | ID=PRO_0000051266;Note=F-box-like/WD repeat-containing protein TBL1XR1 |
| Q9BZK7 | 349 | 374 | 2 | 514 | Chain | ID=PRO_0000051266;Note=F-box-like/WD repeat-containing protein TBL1XR1 |
| Q9BZK7 | 349 | 374 | 347 | 386 | Repeat | Note=WD 5 |
| Q9BZK7 | 349 | 374 | 347 | 386 | Repeat | Note=WD 5 |
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SNVs in the skipped exons for TBL1XR1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
TBL1XR1_BRCA_exon_skip_390105_psi_boxplot.png |
TBL1XR1_LUAD_exon_skip_390105_psi_boxplot.png |
TBL1XR1_STAD_exon_skip_390105_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| BRCA | TCGA-A8-A096-01 | exon_skip_390105 | 176769292 | 176769514 | 176769296 | 176769297 | Frame_Shift_Del | TA | - | p.I141fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_390105 | 176769292 | 176769514 | 176769324 | 176769324 | Frame_Shift_Del | T | - | p.N132fs |
| STAD | TCGA-BR-4361-01 | exon_skip_390105 | 176769292 | 176769514 | 176769342 | 176769342 | Frame_Shift_Del | T | - | p.N126fs |
| STAD | TCGA-BR-8078-01 | exon_skip_390105 | 176769292 | 176769514 | 176769342 | 176769342 | Frame_Shift_Del | T | - | p.N126fs |
| STAD | TCGA-CG-5726-01 | exon_skip_390105 | 176769292 | 176769514 | 176769342 | 176769342 | Frame_Shift_Del | T | - | p.N126fs |
| STAD | TCGA-FP-A4BE-01 | exon_skip_390105 | 176769292 | 176769514 | 176769342 | 176769342 | Frame_Shift_Del | T | - | p.N126fs |
| LGG | TCGA-DB-A4XD-01 | exon_skip_390113 exon_skip_390112 exon_skip_390107 exon_skip_390109 | 176782708 | 176782810 | 176782756 | 176782756 | Frame_Shift_Del | T | - | p.S5fs |
| BRCA | TCGA-BH-A18P-01 | exon_skip_390105 | 176769292 | 176769514 | 176769295 | 176769296 | Frame_Shift_Ins | - | TA | p.A141fs |
| BRCA | TCGA-BH-A18R-01 | exon_skip_390105 | 176769292 | 176769514 | 176769295 | 176769296 | Frame_Shift_Ins | - | TA | p.A141fs |
| BRCA | TCGA-BH-A1FL-01 | exon_skip_390105 | 176769292 | 176769514 | 176769295 | 176769296 | Frame_Shift_Ins | - | TA | p.A141fs |
| BRCA | TCGA-A8-A096-01 | exon_skip_390105 | 176769292 | 176769514 | 176769299 | 176769300 | Frame_Shift_Ins | - | TG | p.A142fs |
| BLCA | TCGA-KQ-A41N-01 | exon_skip_390105 | 176769292 | 176769514 | 176769341 | 176769342 | Frame_Shift_Ins | - | T | p.N126fs |
| LUAD | TCGA-44-2656-01 | exon_skip_390105 | 176769292 | 176769514 | 176769341 | 176769342 | Frame_Shift_Ins | - | T | p.N126fs |
| SKCM | TCGA-EE-A2A5-06 | exon_skip_390103 | 176755886 | 176755960 | 176755937 | 176755937 | Nonsense_Mutation | C | T | p.W357* |
| SKCM | TCGA-EE-A2A5-06 | exon_skip_390103 | 176755886 | 176755960 | 176755937 | 176755937 | Nonsense_Mutation | C | T | p.W357X |
| PRAD | TCGA-CH-5752-01 | exon_skip_390103 | 176755886 | 176755960 | 176755961 | 176755961 | Splice_Site | C | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BH-A18R-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_390105 | |
| Skipped exon start: 176769292 | |
| Skipped exon end: 176769514 | |
| Mutation start: 176769295 | |
| Mutation end: 176769296 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: TA | |
| AAchange: p.A141fs | |
exon_skip_390105_BRCA_TCGA-BH-A18R-01.png | |
 | Sample: TCGA-44-2656-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_390105 | |
| Skipped exon start: 176769292 | |
| Skipped exon end: 176769514 | |
| Mutation start: 176769341 | |
| Mutation end: 176769342 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.N126fs | |
exon_skip_106588_LUAD_TCGA-44-2656-01.png | |
exon_skip_10918_LUAD_TCGA-44-2656-01.png | |
exon_skip_134787_LUAD_TCGA-44-2656-01.png | |
exon_skip_291076_LUAD_TCGA-44-2656-01.png | |
exon_skip_347690_LUAD_TCGA-44-2656-01.png | |
exon_skip_353194_LUAD_TCGA-44-2656-01.png | |
exon_skip_374468_LUAD_TCGA-44-2656-01.png | |
exon_skip_374469_LUAD_TCGA-44-2656-01.png | |
exon_skip_3814_LUAD_TCGA-44-2656-01.png | |
exon_skip_3815_LUAD_TCGA-44-2656-01.png | |
exon_skip_390105_LUAD_TCGA-44-2656-01.png | |
exon_skip_451924_LUAD_TCGA-44-2656-01.png | |
exon_skip_451926_LUAD_TCGA-44-2656-01.png | |
exon_skip_46116_LUAD_TCGA-44-2656-01.png | |
exon_skip_48232_LUAD_TCGA-44-2656-01.png | |
exon_skip_503611_LUAD_TCGA-44-2656-01.png | |
exon_skip_506466_LUAD_TCGA-44-2656-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 176769292 | 176769514 | 176769300 | 176769303 | Frame_Shift_Del | GTAT | - | p.HT139fs |
| SNUC4_LARGE_INTESTINE | 176769292 | 176769514 | 176769342 | 176769342 | Frame_Shift_Del | T | - | p.N126fs |
| LNCAPCLONEFGC_PROSTATE | 176769292 | 176769514 | 176769341 | 176769342 | Frame_Shift_Ins | - | T | p.N126fs |
| LNCAPCLONEFGC_PROSTATE | 176755886 | 176755960 | 176755900 | 176755900 | Missense_Mutation | C | T | p.D370N |
| CAL51_BREAST | 176769292 | 176769514 | 176769460 | 176769460 | Missense_Mutation | C | T | p.V87I |
| HEC251_ENDOMETRIUM | 176782708 | 176782810 | 176782715 | 176782715 | Missense_Mutation | T | G | p.Q17H |
| CCK81_LARGE_INTESTINE | 176782708 | 176782810 | 176782757 | 176782757 | Missense_Mutation | T | C | p.I3M |
| GSS_STOMACH | 176782708 | 176782810 | 176782761 | 176782761 | Missense_Mutation | C | T | p.S2N |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 176755886 | 176755960 | 176755960 | 176755960 | Splice_Site | T | C | p.N350D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBL1XR1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBL1XR1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBL1XR1 |
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RelatedDrugs for TBL1XR1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TBL1XR1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TBL1XR1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| TBL1XR1 | C1865644 | Plantar Lipomatosis, Unusual Facies, and Developmental Delay | 1 | UNIPROT |
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