Gene ID | Position | Description | Function |
---|---|---|---|
APC | chr5: 112,073,556-112,181,936 | APC Regulator of WNT Signalling Pathway | The APC gene encodes a tumour suppressor protein that acts as an antagonist of the Wnt signalling pathway. It is also involved in other processes including cell migration, adhesion, transcriptional activation, and apoptosis. |
BRCA2 | chr13: 32,889,617-32,973,809 | BRCA2 DNA repair associated | The BRCA2 gene is involved in maintaining genomic instability promoting efficient and precise repair of double-strand breaks. |
COL3A1 | chr2: 189,839,099-189,877,472 | Collagen type III alpha 1 chain | The COL3A1 gene encodes for the chains of type III procollagen. Collagen type III have been found in the lamina cribrosa and in the trabecular meshwork. |
HLA-DRB1 | chr6: 32,546,546-32,557,613 | Major histocompatibility complex, class II, DR beta 1 | The human leukocyte antigen (HLA) genes regulate the immune process promoting the adaptive immune response in the vertebrates. HLAs are membrane glycoproteins that can be divided into two major types designated class I (encoded by the genes HLA-A, -B, and -C) and class II (encoded by the genes HLA-DR, -DP, and -DQ). |
HLA-DRB5 | chr6: 32,485,130-32,498,064 | Major histocompatibility complex, class II, DR beta 5 | |
HLA-DRB6 | chr6: 32,520,490-32,527,779 | Major histocompatibility complex, class II, DR beta 6 | |
MFSD8 | chr4: 128,838,960-128,887,139 | Major Facilitator Superfamily Domain Containing 8 | The MFSD8 gene encodes for ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The protein likely localizes to lysosomal membranes. |
NIPBL | chr5: 36,876,861-37,065,921 | NIPBL cohesin loading factor | The NIPBL is involved in guaranteeing the cohesin complex in the chromatin and also between the enhancers and core promoters. |
SCN1A | chr2: 166,845,670-166,930,180 | Sodium voltage-gated channel alpha subunit 1 | The SCN1A is a protein coding gene that encodes for sodium channel alpha subunits which are involved in the generation and propagation of action potential in nerve and muscle. |
SDHB | chr1: 17,345,217-17,380,527 | Succinate Dehydrogenase Complex Iron Sulfur Subunit B | The SDHB gene encodes for proteins that interact with the complex II of the respiratory chain, which is specifically involved in the oxidation of succinate and carries electrons from NADH to CoQ. The complex is composed of four nuclear-encoded subunits (named A to D) and is localized in the mitochondrial inner membrane. |
ZDHHC11 | chr5: 795,720-851,101 | Zinc finger DHHC-type containing 11 | The ZDHHC11 is a protein coding gene member of the DHHC domain responsible for protein palmitoylation by protein acyltransferases with zinc-finger and Asp-His-His-Cys sequence (zDHHC) where its activity is required for the activation to DNA damage. |