Categories: "EnsEMBL" or "GeneBuild"

Analysing Variation with Ensembl and PolyPhen

May 28th, 2012
The Ensembl variation resources provide information about structural variants and sequence variants (including Single Nucleotide Polymorphisms (SNPs), insertions, deletions and somatic mutations in the human genome. more »

OMIM Symbols

April 16th, 2012
The Online Mendelian Inheritance in Man is a manually reviewed catalog of human genes and genetic disorders and traits. Each entry has a name and a number, e.g. "#154780 MARSHALL SYNDROME". According to the OMIM FAQs, these are the meanings of the the s… more »

Canonical transcripts

January 3rd, 2012
As reported in the Ensembl 2009 NAR paper canonical transcripts are defined for all genes and for all species in the Ensembl gene sets. "The canonical transcript is defined as either the longest CDS, if the gene has translated transcripts, or the longes… more »

Public Ensembl databases

July 5th, 2011
A quick reminder of the specifications to connect to the public Ensembl mySQL databases: Database Server Port Ensembl Genomes, all databases 4157 Ensembl (v 24-47) 5306 Ensembl Mart martd… more »

PAR regions

April 6th, 2011
To pull out the coordinates of the pseudo-autosomal regions from the Ensembl database, you can perform the following query on the core database: select as chromosome, ae.seq_region_start as start, ae.seq_region_end as end from assembly_exceptio… more »