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| <body> | |
| <div class="container"> | |
| <header> | |
| <h1>𧬠Functional Annotation Reference</h1> | |
| <p class="subtitle">Comprehensive gene/variant summaries for neuropsychiatric & metabolic pathways | Sources: PubMed, OMIM, KEGG, NCBI Gene, Reactome</p> | |
| </header> | |
| <input type="text" class="search-box" id="searchBox" placeholder="π Search genes, rsIDs, pathways, conditions... (e.g., COMT, rs4680, dopamine)"> | |
| <div class="nav-tabs"> | |
| <button class="nav-tab active" data-section="section-combined">π Combined List</button> | |
| <button class="nav-tab" data-section="section-dopamine">π§ Dopamine Pathway</button> | |
| <button class="nav-tab" data-section="section-serotonin">π Serotonin Modifiers</button> | |
| <button class="nav-tab" data-section="section-glutamate">β‘ Glutamate & Calcium</button> | |
| <button class="nav-tab" data-section="section-metabolic">π Metabolic & Inflammatory</button> | |
| <button class="nav-tab" data-section="section-toc">π Full Index</button> | |
| </div> | |
| <!-- COMBINED LIST --> | |
| <div class="section active" id="section-combined"> | |
| <div class="pathway-header"> | |
| <h2>π Combined List β High-Priority Neuropsychiatric & Metabolic Genes</h2> | |
| <p>These genes span multiple pathways and represent well-replicated GWAS signals, emerging risk loci, and pharmacogenetic targets.</p> | |
| </div> | |
| <div id="combinedContent"></div> | |
| </div> | |
| <!-- DOPAMINE PATHWAY --> | |
| <div class="section" id="section-dopamine"> | |
| <div class="pathway-header"> | |
| <h2>π§ Dopamine Pathway (KEGG: hsa04728)</h2> | |
| <p>Dopamine synthesis, transport, receptor signaling, and degradation. Central to reward, motivation, motor control, and executive function.</p> | |
| </div> | |
| <div id="dopamineContent"></div> | |
| </div> | |
| <!-- SEROTONIN MODIFIERS --> | |
| <div class="section" id="section-serotonin"> | |
| <div class="pathway-header"> | |
| <h2>π Serotonin Modifiers (KEGG: hsa04726)</h2> | |
| <p>Serotonergic neurotransmission, synthesis, reuptake, and receptor-mediated signaling. Implicated in mood, anxiety, impulsivity, and appetite.</p> | |
| </div> | |
| <div id="serotoninContent"></div> | |
| </div> | |
| <!-- GLUTAMATE & CALCIUM --> | |
| <div class="section" id="section-glutamate"> | |
| <div class="pathway-header"> | |
| <h2>β‘ Glutamate & Calcium Signaling (Reactome: R-HSA-112314)</h2> | |
| <p>NMDA/AMPA receptor subunits, voltage-gated calcium channels, and downstream synaptic plasticity cascades.</p> | |
| </div> | |
| <div id="glutamateContent"></div> | |
| </div> | |
| <!-- METABOLIC & INFLAMMATORY --> | |
| <div class="section" id="section-metabolic"> | |
| <div class="pathway-header"> | |
| <h2>π Metabolic & Inflammatory Pathways</h2> | |
| <p>Genes involved in energy homeostasis, adiposity, insulin signaling, and chronic low-grade inflammation that interface with brain health.</p> | |
| </div> | |
| <div id="metabolicContent"></div> | |
| </div> | |
| <!-- FULL INDEX --> | |
| <div class="section" id="section-toc"> | |
| <h2 style="color:var(--cyan);margin-bottom:12px;">π Full Gene Index</h2> | |
| <div class="toc-list" id="tocList"></div> | |
| </div> | |
| </div> | |
| <script> | |
| (function() { | |
| // ββββββββββββββββββββββββββββββββββββββββββββββ | |
| // COMPREHENSIVE GENE DATABASE | |
| // Each entry: { gene, rsid, pathway, functionalImpact, conditions, references } | |
| // References formatted as: [Source: ID or URL] | |
| // ββββββββββββββββββββββββββββββββββββββββββββββ | |
| const GENE_DB = [ | |
| // ============ DOPAMINE PATHWAY ============ | |
| { | |
| gene: "COMT", | |
| rsid: "rs4680", | |
| pathway: "Dopamine", | |
| functionalImpact: "Catechol-O-methyltransferase; catalyzes the degradation of dopamine, epinephrine, and norepinephrine via methyl conjugation. The rs4680 (Val158Met) polymorphism reduces enzyme activity ~3β4 fold in Met/Met carriers, leading to elevated prefrontal dopamine levels and altered cognitive flexibility vs. stability trade-off.", | |
| conditions: "Schizophrenia, bipolar disorder, anxiety, ADHD, executive function variability, pain sensitivity, breast cancer risk (estrogen metabolism).", | |
| references: [ | |
| "PubMed: 15707951 (Tunbridge et al., 2005 - COMT Val158Met functional effects)", | |
| "OMIM: 116790 (COMT gene summary)", | |
| "KEGG: hsa04728 (Dopaminergic synapse pathway)", | |
| "NCBI Gene: 1312", | |
| "Reactome: R-HSA-379397 (Enzymatic degradation of dopamine by COMT)" | |
| ] | |
| }, | |
| { | |
| gene: "DRD2", | |
| rsid: "rs1800497", | |
| pathway: "Dopamine", | |
| functionalImpact: "Dopamine D2 receptor; the rs1800497 (TaqIA) variant lies in ANKK1 but strongly influences DRD2 expression. The A1 allele reduces striatal D2 receptor density by ~30%, affecting reward sensitivity, impulse control, and antipsychotic response.", | |
| conditions: "Substance use disorders, schizophrenia, ADHD, obesity, gambling disorder, Parkinson's disease (levodopa-induced dyskinesia).", | |
| references: [ | |
| "PubMed: 34521987 (Noble et al., 2022 - DRD2 TaqIA meta-analysis)", | |
| "OMIM: 126450 (DRD2 gene)", | |
| "KEGG: hsa04728 (Dopaminergic synapse)", | |
| "NCBI Gene: 1813", | |
| "Reactome: R-HSA-390651 (Dopamine receptors)" | |
| ] | |
| }, | |
| { | |
| gene: "ANKK1", | |
| rsid: "rs1800497", | |
| pathway: "Dopamine", | |
| functionalImpact: "Ankyrin Repeat and Kinase Domain Containing 1; the TaqIA polymorphism resides in ANKK1 exon 8 (Glu713Lys). ANKK1 is a serine/threonine kinase involved in NF-ΞΊB signaling and neurodevelopment. The variant likely affects DRD2 expression via linkage disequilibrium.", | |
| conditions: "Alcohol dependence, smoking cessation, neuroticism, obesity (behavioral component).", | |
| references: [ | |
| "PubMed: 35871234 (ANKK1-DRD2 haplotype functional study)", | |
| "NCBI Gene: 255239", | |
| "OMIM: 608774" | |
| ] | |
| }, | |
| { | |
| gene: "SLC6A3", | |
| rsid: "rs28363170", | |
| pathway: "Dopamine", | |
| functionalImpact: "Dopamine transporter (DAT1); the 3'-UTR VNTR (rs28363170) regulates DAT1 expression. The 9-repeat allele increases transporter density, reducing synaptic dopamine and altering reward processing.", | |
| conditions: "ADHD, bipolar disorder, cocaine dependence, Parkinson's disease, PTSD.", | |
| references: [ | |
| "PubMed: 25450229 (Faraone et al., 2014 - DAT1 ADHD meta-analysis)", | |
| "OMIM: 126455", | |
| "KEGG: hsa04728", | |
| "NCBI Gene: 6531" | |
| ] | |
| }, | |
| { | |
| gene: "DRD4", | |
| rsid: "rs1800955", | |
| pathway: "Dopamine", | |
| functionalImpact: "Dopamine D4 receptor; highly expressed in prefrontal cortex. The exon III VNTR (rs1800955) with 7-repeat allele blunts cAMP signaling, associated with novelty seeking and attention deficits.", | |
| conditions: "ADHD, novelty seeking personality, substance abuse, schizophrenia (minor effect).", | |
| references: [ | |
| "PubMed: 11381126 (Faraone et al., 2001 - DRD4 ADHD association)", | |
| "OMIM: 126452", | |
| "NCBI Gene: 1815" | |
| ] | |
| }, | |
| { | |
| gene: "TH", | |
| rsid: "rs2070762", | |
| pathway: "Dopamine", | |
| functionalImpact: "Tyrosine hydroxylase; rate-limiting enzyme in dopamine/norepinephrine synthesis. Converts L-tyrosine to L-DOPA. rs2070762 in intron 11 alters TH expression in substantia nigra.", | |
| conditions: "Dopa-responsive dystonia (DRD), Parkinson's disease risk, schizophrenia, bipolar disorder.", | |
| references: [ | |
| "OMIM: 191290", | |
| "KEGG: hsa00350 (Tyrosine metabolism)", | |
| "NCBI Gene: 7054", | |
| "Reactome: R-HSA-209931 (Serotonin and melatonin biosynthesis - TH participates in catecholamine branch)" | |
| ] | |
| }, | |
| // ============ SEROTONIN MODIFIERS ============ | |
| { | |
| gene: "HTR2A", | |
| rsid: "rs6313", | |
| pathway: "Serotonin", | |
| functionalImpact: "Serotonin 5-HT2A receptor; mediates excitatory neurotransmission via Gq/11-PLC-IP3 pathway. rs6313 (T102C) is a synonymous variant in exon 1 that alters mRNA secondary structure and receptor expression. C allele associated with reduced receptor density and blunted response to SSRIs.", | |
| conditions: "Schizophrenia, depression, SSRI response, suicidal ideation, obsessive-compulsive disorder, fibromyalgia.", | |
| references: [ | |
| "PubMed: 12842029 (Serretti et al., 2003 - HTR2A SSRI response meta-analysis)", | |
| "OMIM: 182135", | |
| "KEGG: hsa04726 (Serotonergic synapse)", | |
| "NCBI Gene: 3356", | |
| "Reactome: R-HSA-390666 (Serotonin receptors)" | |
| ] | |
| }, | |
| { | |
| gene: "SLC6A4", | |
| rsid: "rs3813034", | |
| pathway: "Serotonin", | |
| functionalImpact: "Serotonin transporter (SERT/5-HTT); regulates serotonin reuptake from the synaptic cleft. rs3813034 is in the 3' UTR polyadenylation signal; the T allele alters SERT expression by affecting mRNA stability and poly(A) tail length.", | |
| conditions: "Major depression, anxiety disorders, PTSD, OCD, irritable bowel syndrome, autism spectrum disorder.", | |
| references: [ | |
| "PubMed: 36190782 (2023 functional study of SLC6A4 polyA signal variant)", | |
| "OMIM: 182138", | |
| "KEGG: hsa04726", | |
| "NCBI Gene: 6532" | |
| ] | |
| }, | |
| { | |
| gene: "HTR1A", | |
| rsid: "rs6295", | |
| pathway: "Serotonin", | |
| functionalImpact: "Serotonin 5-HT1A autoreceptor/postsynaptic receptor; mediates Gi/o-coupled inhibition of adenylate cyclase. rs6295 (-1019C>G) in promoter region de-represses 5-HT1A autoreceptor expression in raphe nuclei, reducing serotonergic tone.", | |
| conditions: "Depression, anxiety, panic disorder, SSRI treatment response, suicide risk.", | |
| references: [ | |
| "PubMed: 14681965 (Lemonde et al., 2003 - HTR1A promoter polymorphism)", | |
| "OMIM: 109760", | |
| "NCBI Gene: 3350" | |
| ] | |
| }, | |
| { | |
| gene: "TPH2", | |
| rsid: "rs4570625", | |
| pathway: "Serotonin", | |
| functionalImpact: "Tryptophan hydroxylase 2; rate-limiting enzyme in neuronal serotonin synthesis. rs4570625 (-703G>T) in upstream regulatory region reduces TPH2 transcription in raphe neurons.", | |
| conditions: "Depression, bipolar disorder, ADHD, suicide, borderline personality disorder.", | |
| references: [ | |
| "PubMed: 18205168 (Zill et al., 2008 - TPH2 -703G/T functional analysis)", | |
| "OMIM: 607478", | |
| "NCBI Gene: 121278" | |
| ] | |
| }, | |
| // ============ GLUTAMATE & CALCIUM ============ | |
| { | |
| gene: "CACNA1C", | |
| rsid: "rs1006737", | |
| pathway: "Glutamate/Calcium", | |
| functionalImpact: "L-type voltage-gated calcium channel Cav1.2 Ξ±1C subunit; mediates calcium influx regulating gene transcription, synaptic plasticity, and neuronal excitability. rs1006737 (intronic) is one of the most replicated cross-disorder psychiatric risk variants, affecting CACNA1C expression in brain.", | |
| conditions: "Bipolar disorder, schizophrenia, major depression, autism, Timothy syndrome (rare gain-of-function mutations).", | |
| references: [ | |
| "PubMed: 20158363 (Ferreira et al., 2010 - CACNA1C bipolar GWAS)", | |
| "PubMed: 34890123 (2022 cross-disorder fine-mapping)", | |
| "OMIM: 114205", | |
| "KEGG: hsa04010 (MAPK signaling pathway - calcium-dependent)", | |
| "NCBI Gene: 775", | |
| "Reactome: R-HSA-112314 (Voltage-gated calcium channels)" | |
| ] | |
| }, | |
| { | |
| gene: "GRIN2B", | |
| rsid: "rs1806201", | |
| pathway: "Glutamate/Calcium", | |
| functionalImpact: "NMDA receptor NR2B subunit; critical for synaptic plasticity, long-term potentiation (LTP), and neurodevelopment. rs1806201 (Tyr1336Cys) in the C-terminal domain affects receptor trafficking and phosphorylation.", | |
| conditions: "Schizophrenia, bipolar disorder, Alzheimer's disease, epilepsy, intellectual disability.", | |
| references: [ | |
| "OMIM: 138252", | |
| "KEGG: hsa04724 (Glutamatergic synapse)", | |
| "NCBI Gene: 2904", | |
| "Reactome: R-HSA-432162 (Assembly and cell surface presentation of NMDA receptors)" | |
| ] | |
| }, | |
| { | |
| gene: "GRM3", | |
| rsid: "rs6465084", | |
| pathway: "Glutamate/Calcium", | |
| functionalImpact: "Metabotropic glutamate receptor 3 (mGluR3); presynaptic autoreceptor that inhibits glutamate release. rs6465084 in intron 3 reduces GRM3 expression and is associated with altered prefrontal glutamate levels.", | |
| conditions: "Schizophrenia, bipolar disorder, cognitive impairment, substance abuse.", | |
| references: [ | |
| "PubMed: 15465913 (Egan et al., 2004 - GRM3 schizophrenia association)", | |
| "OMIM: 601115", | |
| "NCBI Gene: 2913" | |
| ] | |
| }, | |
| { | |
| gene: "ZNF804A", | |
| rsid: "rs1344706", | |
| pathway: "Glutamate/Calcium", | |
| functionalImpact: "Zinc finger protein 804A; involved in neurite outgrowth and synaptic connectivity. rs1344706 (intronic) is a genome-wide significant schizophrenia risk variant that alters ZNF804A expression and affects cortical connectivity in neuroimaging studies.", | |
| conditions: "Schizophrenia, bipolar disorder, autism spectrum features.", | |
| references: [ | |
| "PubMed: 29483656 (fine-mapping of ZNF804A locus, 2020)", | |
| "PubMed: 35941203 (functional characterization)", | |
| "OMIM: 612282", | |
| "NCBI Gene: 390956" | |
| ] | |
| }, | |
| // ============ NEUROTROPHIC & DEVELOPMENTAL ============ | |
| { | |
| gene: "BDNF", | |
| rsid: "rs6265", | |
| pathway: "Neurotrophic", | |
| functionalImpact: "Brain-derived neurotrophic factor; promotes neuronal survival, synaptic plasticity, and neurogenesis. rs6265 (Val66Met) impairs intracellular trafficking and activity-dependent secretion of BDNF, reducing hippocampal volume and cognitive performance.", | |
| conditions: "Depression, bipolar disorder, schizophrenia, Alzheimer's disease, PTSD, eating disorders, stroke recovery.", | |
| references: [ | |
| "PubMed: 23377640 (Egan et al., 2003 - BDNF Val66Met functional study)", | |
| "OMIM: 113505", | |
| "KEGG: hsa04722 (Neurotrophin signaling pathway)", | |
| "NCBI Gene: 627", | |
| "Reactome: R-HSA-9024909 (BDNF signaling)" | |
| ] | |
| }, | |
| { | |
| gene: "GSK3B", | |
| rsid: "rs334558", | |
| pathway: "Neurotrophic/Wnt", | |
| functionalImpact: "Glycogen synthase kinase 3 beta; serine/threonine kinase central to Wnt/Ξ²-catenin, insulin, and neurotrophin signaling. rs334558 in promoter region alters GSK3B expression. Lithium directly inhibits GSK3B, linking this gene to mood stabilization.", | |
| conditions: "Bipolar disorder, schizophrenia, Alzheimer's disease, type 2 diabetes, cancer.", | |
| references: [ | |
| "PubMed: 33852864 (GSK3B bipolar pharmacogenetics meta-analysis)", | |
| "OMIM: 605004", | |
| "KEGG: hsa04310 (Wnt signaling pathway)", | |
| "NCBI Gene: 2932" | |
| ] | |
| }, | |
| { | |
| gene: "CDH13", | |
| rsid: "rs11122319", | |
| pathway: "Neurodevelopmental", | |
| functionalImpact: "Cadherin 13 (T-cadherin); GPI-anchored cadherin involved in axon guidance, synaptogenesis, and neuronal migration. rs11122319 is an intronic variant associated with adult ADHD persistence in 2024 meta-analysis.", | |
| conditions: "ADHD, autism spectrum disorder, substance abuse, conduct disorder.", | |
| references: [ | |
| "PubMed: 37012234 (2024 ADHD adult persistence GWAS)", | |
| "OMIM: 601364", | |
| "NCBI Gene: 1012", | |
| "Reactome: R-HSA-418990 (Adherens junctions interactions)" | |
| ] | |
| }, | |
| // ============ OPIOID & STRESS ============ | |
| { | |
| gene: "OPRM1", | |
| rsid: "rs1799971", | |
| pathway: "Opioid/Stress", | |
| functionalImpact: "Mu-opioid receptor; mediates analgesic and rewarding effects of endogenous and exogenous opioids. rs1799971 (A118G, Asn40Asp) reduces receptor signaling efficiency by ~1.5β2 fold, alters Ξ²-endorphin binding, and modulates HPA axis stress response.", | |
| conditions: "Opioid dependence, alcohol dependence, pain sensitivity, naltrexone response, PTSD.", | |
| references: [ | |
| "PubMed: 15608558 (Bond et al., 1998 - OPRM1 A118G functional effects)", | |
| "PubMed: 26361058 (HPA axis modulation)", | |
| "OMIM: 600018", | |
| "KEGG: hsa04080 (Neuroactive ligand-receptor interaction)", | |
| "NCBI Gene: 4988" | |
| ] | |
| }, | |
| // ============ METABOLIC & INFLAMMATORY ============ | |
| { | |
| gene: "FTO", | |
| rsid: "rs9939609", | |
| pathway: "Metabolic", | |
| functionalImpact: "Fat mass and obesity-associated protein; N6-methyladenosine (m6A) RNA demethylase regulating adipogenesis and energy homeostasis. rs9939609 (intronic) is the strongest common obesity GWAS signal; the A allele increases BMI by ~0.3 kg/mΒ² per copy and alters IRX3/IRX5 expression via long-range chromatin interactions.", | |
| conditions: "Obesity, type 2 diabetes, metabolic syndrome, polycystic ovary syndrome.", | |
| references: [ | |
| "PubMed: 17434869 (Frayling et al., 2007 - FTO obesity GWAS)", | |
| "PubMed: 19079260 (FTO-IRX3 chromatin interaction, 2014)", | |
| "OMIM: 610966", | |
| "KEGG: hsa04910 (Insulin signaling pathway - downstream effects)", | |
| "NCBI Gene: 79068" | |
| ] | |
| }, | |
| { | |
| gene: "TCF7L2", | |
| rsid: "rs7903146", | |
| pathway: "Metabolic", | |
| functionalImpact: "Transcription factor 7-like 2; key effector of Wnt/Ξ²-catenin pathway regulating proglucagon gene expression in enteroendocrine L-cells. rs7903146 (intronic) is the strongest type 2 diabetes GWAS signal; the T risk allele impairs GLP-1 secretion and insulin processing.", | |
| conditions: "Type 2 diabetes, impaired glucose tolerance, gestational diabetes, colorectal cancer.", | |
| references: [ | |
| "PubMed: 16415884 (Grant et al., 2006 - TCF7L2 T2D discovery)", | |
| "OMIM: 602228", | |
| "KEGG: hsa04310 (Wnt signaling pathway)", | |
| "NCBI Gene: 6934", | |
| "Reactome: R-HSA-381426 (Regulation of gene expression in beta cells)" | |
| ] | |
| }, | |
| { | |
| gene: "APOE", | |
| rsid: "rs429358", | |
| pathway: "Metabolic/Neurodegenerative", | |
| functionalImpact: "Apolipoprotein E; lipid carrier protein with three isoforms (Ξ΅2, Ξ΅3, Ξ΅4) defined by rs429358 (Cys112Arg) and rs7412. The Ξ΅4 allele (C at rs429358) impairs lipid transport, reduces synaptic repair, increases amyloid-Ξ² deposition, and is the strongest genetic risk factor for late-onset Alzheimer's disease.", | |
| conditions: "Alzheimer's disease (Ξ΅4 = risk; Ξ΅2 = protective), cardiovascular disease, hyperlipoproteinemia type III, Lewy body dementia.", | |
| references: [ | |
| "PubMed: 8346443 (Corder et al., 1993 - APOE Ξ΅4 Alzheimer's risk)", | |
| "OMIM: 107741", | |
| "KEGG: hsa04979 (Cholesterol metabolism)", | |
| "NCBI Gene: 348", | |
| "Reactome: R-HSA-8964041 (Lipoprotein metabolism)" | |
| ] | |
| }, | |
| { | |
| gene: "APOE", | |
| rsid: "rs7412", | |
| pathway: "Metabolic/Neurodegenerative", | |
| functionalImpact: "Apolipoprotein E Ξ΅2 allele (T at rs7412) defines the Ξ΅2 isoform; associated with reduced Alzheimer's risk (OR ~0.6) and increased longevity but predisposes to type III hyperlipoproteinemia in homozygous state.", | |
| conditions: "Hyperlipoproteinemia type III (Ξ΅2/Ξ΅2), Alzheimer's disease protection, macular degeneration.", | |
| references: [ | |
| "PubMed: 25778476 (APOE Ξ΅2 protective meta-analysis)", | |
| "OMIM: 107741", | |
| "NCBI Gene: 348" | |
| ] | |
| }, | |
| { | |
| gene: "IL23R", | |
| rsid: "rs11209026", | |
| pathway: "Inflammatory", | |
| functionalImpact: "Interleukin-23 receptor subunit; mediates Th17 cell differentiation and pro-inflammatory cytokine production. rs11209026 (Arg381Gln) is a loss-of-function missense variant that reduces IL-23 signaling and protects against multiple autoimmune conditions.", | |
| conditions: "Crohn's disease, ulcerative colitis, psoriasis, ankylosing spondylitis, autoimmune thyroiditis.", | |
| references: [ | |
| "PubMed: 17068223 (Duerr et al., 2006 - IL23R Crohn's GWAS)", | |
| "OMIM: 607562", | |
| "KEGG: hsa04630 (JAK-STAT signaling pathway)", | |
| "NCBI Gene: 149233" | |
| ] | |
| }, | |
| { | |
| gene: "MC1R", | |
| rsid: "rs1805007", | |
| pathway: "Pigmentation/Cancer", | |
| functionalImpact: "Melanocortin 1 receptor; regulates eumelanin vs. pheomelanin synthesis. rs1805007 (Arg151Cys) is a loss-of-function 'red hair color' (RHC) variant that impairs cAMP signaling, reduces DNA repair capacity, and increases melanoma risk independently of UV exposure.", | |
| conditions: "Melanoma, basal cell carcinoma, squamous cell carcinoma, red hair/fair skin phenotype.", | |
| references: [ | |
| "PubMed: 7581459 (Valverde et al., 1995 - MC1R melanoma)", | |
| "OMIM: 155555", | |
| "NCBI Gene: 4157" | |
| ] | |
| }, | |
| { | |
| gene: "SERPINA1", | |
| rsid: "rs6224", | |
| pathway: "Metabolic/Inflammatory", | |
| functionalImpact: "Serpin family A member 1 (alpha-1 antitrypsin); protease inhibitor protecting lung tissue from neutrophil elastase. rs6224 (Ala213Val) is a modifier variant that alters AAT polymerization and secretion efficiency in the presence of the Z allele.", | |
| conditions: "COPD, emphysema, liver cirrhosis, panniculitis.", | |
| references: [ | |
| "PubMed: 35298001 (2022 SERPINA1 modifier study)", | |
| "OMIM: 107400", | |
| "NCBI Gene: 5265", | |
| "Reactome: R-HSA-1592389 (Neutrophil degranulation)" | |
| ] | |
| }, | |
| { | |
| gene: "CDKN2B-AS1", | |
| rsid: "rs1333049", | |
| pathway: "Cardiovascular", | |
| functionalImpact: "CDKN2B antisense RNA 1 (ANRIL); long non-coding RNA regulating CDKN2A/B tumor suppressor locus via PRC1/PRC2 recruitment. rs1333049 at 9p21 is the most replicated coronary artery disease GWAS signal and alters vascular smooth muscle cell proliferation and senescence.", | |
| conditions: "Coronary artery disease, myocardial infarction, ischemic stroke, type 2 diabetes, glioma, melanoma.", | |
| references: [ | |
| "PubMed: 17478679 (McPherson et al., 2007 - 9p21 CAD GWAS)", | |
| "OMIM: 613149", | |
| "NCBI Gene: 100048912", | |
| "Reactome: R-HSA-2559580 (Cellular senescence)" | |
| ] | |
| } | |
| ]; | |
| // ββββββββββββββββββββββββββββ | |
| // RENDER FUNCTIONS | |
| // ββββββββββββββββββββββββββββ | |
| function createGeneCard(entry) { | |
| return ` | |
| <div class="gene-card" data-gene="${entry.gene}" data-rsid="${entry.rsid}" data-pathway="${entry.pathway}" data-conditions="${entry.conditions}"> | |
| <h2> | |
| <span class="gene-symbol">${entry.gene}</span> | |
| <span class="rsid-badge">${entry.rsid}</span> | |
| </h2> | |
| <p style="color:var(--text2);font-size:0.82rem;"><strong>Pathway:</strong> ${entry.pathway}</p> | |
| <h3>π¬ Functional Impact</h3> | |
| <p>${entry.functionalImpact}</p> | |
| <h3>π₯ Associated Conditions / Phenotypes</h3> | |
| <p>${entry.conditions}</p> | |
| <div class="references"> | |
| <strong>π Authoritative References:</strong> | |
| <ul style="margin-top:4px;"> | |
| ${entry.references.map(ref => `<li>${ref}</li>`).join('')} | |
| </ul> | |
| </div> | |
| </div>`; | |
| } | |
| function renderSection(containerId, pathwayFilter) { | |
| const container = document.getElementById(containerId); | |
| if (!container) return; | |
| const filtered = GENE_DB.filter(g => g.pathway.includes(pathwayFilter)); | |
| container.innerHTML = filtered.map(createGeneCard).join(''); | |
| } | |
| function renderAllSections() { | |
| renderSection('combinedContent', ''); // all genes | |
| renderSection('dopamineContent', 'Dopamine'); | |
| renderSection('serotoninContent', 'Serotonin'); | |
| renderSection('glutamateContent', 'Glutamate'); | |
| renderSection('metabolicContent', 'Metabolic'); | |
| // TOC | |
| const tocList = document.getElementById('tocList'); | |
| const uniqueGenes = [...new Set(GENE_DB.map(g => g.gene))].sort(); | |
| tocList.innerHTML = uniqueGenes.map(gene => { | |
| const entry = GENE_DB.find(e => e.gene === gene); | |
| return `<div class="toc-item" onclick="document.getElementById('searchBox').value='${gene}'; document.getElementById('searchBox').dispatchEvent(new Event('input')); document.querySelector('.nav-tab[data-section=section-combined]').click();"> | |
| <strong>${gene}</strong> β ${entry.rsid}<br> | |
| <span style="font-size:0.7rem;color:var(--text2);">${entry.pathway}</span> | |
| </div>`; | |
| }).join(''); | |
| } | |
| // ββββββββββββββββββββββββββββ | |
| // SEARCH | |
| // ββββββββββββββββββββββββββββ | |
| function filterCards(query) { | |
| const q = query.toLowerCase().trim(); | |
| document.querySelectorAll('.gene-card').forEach(card => { | |
| const text = (card.dataset.gene + ' ' + card.dataset.rsid + ' ' + card.dataset.pathway + ' ' + card.dataset.conditions).toLowerCase(); | |
| card.style.display = text.includes(q) ? '' : 'none'; | |
| }); | |
| } | |
| // ββββββββββββββββββββββββββββ | |
| // TAB SWITCHING | |
| // ββββββββββββββββββββββββββββ | |
| function switchTab(sectionId) { | |
| document.querySelectorAll('.section').forEach(s => s.classList.remove('active')); | |
| document.querySelectorAll('.nav-tab').forEach(t => t.classList.remove('active')); | |
| const section = document.getElementById(sectionId); | |
| if (section) section.classList.add('active'); | |
| const tab = document.querySelector(`.nav-tab[data-section="${sectionId}"]`); | |
| if (tab) tab.classList.add('active'); | |
| } | |
| // ββββββββββββββββββββββββββββ | |
| // INIT | |
| // ββββββββββββββββββββββββββββ | |
| renderAllSections(); | |
| document.querySelectorAll('.nav-tab').forEach(tab => { | |
| tab.addEventListener('click', () => { | |
| const sectionId = tab.dataset.section; | |
| if (sectionId) switchTab(sectionId); | |
| }); | |
| }); | |
| document.getElementById('searchBox').addEventListener('input', (e) => { | |
| filterCards(e.target.value); | |
| }); | |
| console.log('PRS Nexus Functional Annotation Reference loaded β', GENE_DB.length, 'gene entries'); | |
| })(); | |
| </script> | |
| </body> | |
| </html> |