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Clinical-Genomics / GeneLists

Scripts to automate the handling of gene lists
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EnsEMBL transcript querying might update gene symbol! #33

Closed ingkebil closed 8 years ago

ingkebil commented 8 years ago

Even when not finding a hit on EnsEMBL, the package returns an annotated line based on querying the transcripts of EnsEMBL, e.g.:

HGNC_symbol│Gene_description│Ensembl_gene_id│Gene_locus│Phenotype│Genetic_disease_model│OMIM_morbd
RPS17│Diamond-Blackfan anemia│ENSG00000182774│15q25.2││AD│612527
FANCJ│Fanconi anemia │ENSG00000136492│17q22.3││AR│609054
FANCN│Fanconi anemia │ENSG00000083093│16p21.1││AR│614083
FANCO│Fanconi anemia │ENSG00000108384│17q22││AR│613390
FANCP│Fanconi anemia │ENSG00000188827│16p13.2││AR│613951
FANCQ│Fanconi anemia │ENSG00000175595│16p13.12││AR│615272
FANCT│Fanconi anemia │ENSG00000077152│1q32.1││AR│616435
NSB1|Nijmegen breakage syndrome|ENSG00000104320|8q21|Pancytopenia|AR|251260
RBM8A│Thrombocytopenia-absent radius syndrome│ENSG00000265241│1q21.1││AR│274000

These will get updated HGNC symbols after querying! This should be reported.

ingkebil commented 8 years ago

Fixed in 0290e2dc36