User:ChloeBowen/sandbox

Gene
The VPS13B gene is located on chromosome 8q22, and which deletions in this chromosome are associated with Cohen Syndrome, which is why this gene is alternatively called COH1. The gene is made up of 66 exons, 4 of which are alternative. The pattern of alternative splicing in the VS13B gene is complex in the analyzed regions including exons 28B and 28. This eventually causes 4 termination codons and 3 alternatively spliced forms to be in use. Exon 2 is where its translation start codon occurs. VPS13B is a large gene; It spans a genomic DNA sequence region of about 864 kilobase pairs, or 846,000 base pairs. The VPS13B gene is widely expressed, especially in prostate, testis, ovary, and colon with transcripts of about 12 to 14 kilobase pairs. It is also expressed in fetal brain, liver, and kidney, with transcripts of about 2.0 to 5.0 kilobase pairs. Expression in the adult brain is very minimal. Variants 1A and 2A are the principle variants of the gene that encodes a 4,022 and 39,997 amino acid protein, respectively. 2 Alu repeat sequences are present in the three prime untranslated region.