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  Basic Information
Ensembl ID
ENSG00000144810
      
Symbol COL8A1
Description collagen, type VIII, alpha 1 [Source:HGNC Symbol;Acc:2215]
Status KNOWN
Biotype protein_coding
  Origination
Transcript
Peptide ENSP00000273342
Location chr3:99357454-99515158   
Branch 0
Branch View
Created with Highcharts 4.1.5Chart context menuHumanChimpOrangutanGibbonRhesusMarmosetRabbitGuinea PigRatMouseHorseDogCowElephantOpossumPlatypusChickenZebra FinchLizardX.tropicalisSticklebackTetraodonZebrafish24681012141618Highcharts.com
Paralogues
Gene		 ENSG00000171812 (COL8A2)
Origination
Type		 NA
Paralogous
Alignment ?
Created with Highcharts 4.1.5Chart context menuFocal Gene:COL8A1ProteinSequenceAlignmentParalogous Gene:COL8A2Highcharts.com
Alignment
Details
Focal Gene FractionParalogues Gene FractionE-valueBit ScoreIdentity
88.2%94%0.0 74556.64%
  Selection
Population
Genomics
Analysis
TranscriptObserved # of
Nonsynonymous Substitution		Observed # of
Synonymous Substitution		  q  
ENST00000261037 30240.1
Orthologous
Evolutionary
Estimation ?
NSKaKsωpq
1408.1823.900.0360.1214.06E-086.12E-09
  Phenotype Association
GWAS Studies
Created with Highcharts 4.1.5Chart context menuAge-related maculardegenerationBlood Pressure andArterial StiffnessGWASHighcharts.com
Tile size is proportional to negative log-transformed most significant
p-value of SNPs for each trait. For more details: click HERE
  Functional Genomics
Transcriptome
Profile
Created with Highcharts 4.1.5Chart context menuSee scatter plot of focal gene and its paralogues gene,for better visualization of correlation.Scatter Plotlog2( Mean FPKM + 1 )HPACOL8A1COL8A2adrenalappendixbonemarrowbraincolonduodenumendometriumesophagusfatgallbladderheartkidneyliverlunglymphnodeovarypancreasplacentaprostatesalivaryglandskinsmallintestinespleenstomachtestisthyroidurinarybladder0123456Highcharts.com
Created with Highcharts 4.1.5Chart context menuSee distribution of focal gene and its paralogues geneDistributionlog2( COL8A1 FPKM + 1 )log2( COL8A2 FPKM + 1 )171 Samples, R = 0.36, P = 6e-6adrenalappendixbonemarrowbraincolonduodenumendometriumesophagusfatgallbladderheartkidneyliverlunglymphnodeovarypancreasplacentaprostatesalivaryglandskinsmallintestinespleenstomachtestisthyroidurinarybladder00.511.522.533.544.555.5600.511.522.533.544.555.56Highcharts.com
Created with Highcharts 4.1.5Chart context menuSee scatter plot of focal gene and its paralogues gene, for better visualization of correlationScatter Plotlog2( Mean FPKM + 1 )GTExCOL8A1COL8A2Adipose TissueAdrenal GlandBladderBloodBlood VesselBrainBreastCervix UteriColonEsophagusFallopian TubeFIBRBLSHeartKidneyLCLLiverLungMuscleNerveOvaryPancreasPituitaryProstateSalivary GlandSkinSmall IntestineSpleenStomachTestisThyroidUterusVagina0246810Highcharts.com
Created with Highcharts 4.1.5Chart context menuSee distribution of focal gene and its paralogues geneDistributionlog2( COL8A1 FPKM + 1 )log2( COL8A2 FPKM + 1 )1936 Samples, R = 0.66, P < 2e-10Adipose - SubcutaneousAdipose - Visceral (Omentum)Adrenal GlandArtery - AortaArtery - CoronaryArtery - TibialBladderBrain - AmygdalaBrain - Anterior cingulate cortex (BA24)Brain - Caudate (basal ganglia)Brain - Cerebellar HemisphereBrain - CerebellumBrain - CortexBrain - Frontal Cortex (BA9)Brain - HippocampusBrain - HypothalamusBrain - Nucleus accumbens (basal ganglia)Brain - Putamen (basal ganglia)Brain - Spinal cord (cervical c-1)Brain - Substantia nigraBreast - Mammary TissueCells - EBV-transformed lymphocytesCells - Transformed fibroblastsCervix - EctocervixCervix - EndocervixColon - SigmoidColon - TransverseEsophagus - Gastroesophageal JunctionEsophagus - MucosaEsophagus - MuscularisFallopian TubeHeart - Atrial AppendageHeart - Left VentricleKidney - CortexLiverLungMinor Salivary GlandMuscle - SkeletalNerve - TibialOvaryPancreasPituitaryProstateSkin - Not Sun Exposed (Suprapubic)Skin - Sun Exposed (Lower leg)Small Intestine - Terminal IleumSpleenStomachTestisThyroidUterusVaginaWhole Blood01234567891011120123456789101112Highcharts.com
Created with Highcharts 4.1.5Before BirthAfter BirthChart context menuundefinedSummaryBy GenderundefinedSummaryBy StagesDevelopment Stage/AgeRPKMBrainSpanNCXHIPAMYSTRMDCB8 pcw10 pcw12 pcw14 pcw16 pcw18 pcw20 pcw22 pwc24 pcw26 pcw28 pcw30 pcw32 pcw34 pcw36 pcw38 pcw0 yrs2 yrs4 yrs6 yrs8 yrs10 yrs12 yrs14 yrs16 yrs18 yrs20 yrs22 yrs24 yrs26 yrs28 yrs30 yrs32 yrs34 yrs36 yrs38 yrs40 yrs-0.500.511.522.533.54Highcharts.com
Created with Highcharts 4.1.5Before BirthAfter BirthChart context menuundefinedSummaryBy RegionundefinedSummaryBy StagesDevelopment Stage/AgeRPKMBrainSpanMale NCXFemale NCXMale Subcortical RegionFemale Subcortical Region8 pcw10 pcw12 pcw14 pcw16 pcw18 pcw20 pcw22 pwc24 pcw26 pcw28 pcw30 pcw32 pcw34 pcw36 pcw38 pcw0 yrs2 yrs4 yrs6 yrs8 yrs10 yrs12 yrs14 yrs16 yrs18 yrs20 yrs22 yrs24 yrs26 yrs28 yrs30 yrs32 yrs34 yrs36 yrs38 yrs40 yrs01-0.250.250.50.751.251.5Highcharts.com
Created with Highcharts 4.1.5Chart context menuundefinedSummaryBy RegionundefinedSummaryBy GenderRPKMBrainSpanEarly prenatal AEarly prenatal BEarly mid-prenatal AEarly mid-prenatal BLate mid-prenatalLate prenatalEarly infancyLate infancyEarly childhoodLate childhoodAdolescenceAdulthood012345-16Highcharts.com
Proteomic
Profile
Created with Highcharts 4.1.5Chart context menuProtein Evidence Quantified by MaxQuantMaxQuantProtein Expression Quantificated By PFind3111212210311001101121000000000200001234AdultPancreasAdultLungAdultHeartAdultProstateAdultSpinalcordFetalHeartAdultAdrenalglandNNEPVMYTYDEYKKQNYNPQTGIFTCEVPGVYYFAYHVHCKGGNVWVALFKGFLDQASGSAVLLLRPGDRNNEPVMYTYDEYKHighcharts.comOnly top 7 enriched tissues and top 5 abundant peptides
are shown in heatmap. For more details: click HERE
Created with Highcharts 4.1.5Chart context menuProtein Evidence Quantificated by PFindPFindProtein Expression Quantified by MaxQuant31111131103110011001210000200001234AdultPancreasAdultLungAdultHeartAdultProstateAdultSpinalcordAdultAdrenalglandNNEPVMYTYDEYKKQNYNPQTGIFTCEVPGVYYFAYHVHCKGGNVWVALFKGFLDQASGSAVLLLRPGDRNNEPVMYTYDEYKHighcharts.comOnly top 6 enriched tissues and top 5 abundant peptides
are shown in heatmap. For more details: click HERE
  Cross reference
Phylostratigraphy
Created with Highcharts 4.1.5Chart context menuGlires, ScadentiaLaurasiatheriaAfrotheria, XenarthraMarsupialia, ProthotheriaSauropsidaAmphibiaActinopterygiiCyclostomata, ChondrichthyesUrochordataCephalochordataEchinodermataProtostomia, AceolmorphaCnidariaPoriferaChoanoflagellidaFungiOther eukaryotesArchea BacteriaPrimates02.557.51012.51517.52022.5Highcharts.com
ProteinHistorian
Created with Highcharts 4.1.5Chart context menuThis protein family database is similar to the other PPOD databases, but it is based on an OrthoMCL clustering of all proteins in the 48 species present in v7.0 of the PANTHER classification system.48 SpeciesTreeHumanRatMouseChickenZebrafishNematodeFruit FlyFission YeastBudding YeastArabidopsisDictyosteliumE. coliPPODv4_Jaccard + dolloPPODv4_Jaccard + wagner1.0PPODv4_MultiParanoid_dolloPPODv4_MultiParanoid + wagner1.0PPODv4_Nens_dolloPPODv4_Nens + wagner1.0PPODv4_OrthoMCL_dolloPPODv4_OrthoMCL + wagner1.0Highcharts.com
Created with Highcharts 4.1.5Chart context menuThe Princeton Protein Orthology Database (PPOD) provides several sets of protein family predictions for all proteins in the 12 genomes of the GO Reference Genome Project.12 SpeciesTreeHUMANPANTRMACMURATMOUSECANFABOVINMONDOORNANCHICKXENTRFUGRUDANRECIOINSTRPUCAEELCAEBRANOGADROMENEUCREMENIASHGOYEASTSCHPOARATHORYSJCHLREDICDIENTHIPLAYOTETTHLEIMAECOLIPSEA7GEOSLBRAJATHEMADEIRASTRCOAQUAECHLTAGLOVICHLAALEPINBACSUBACTNSULSOMETACPPODv4_PTHR7OrthoMCL + dolloPPODv4_PTHR7OrthoMCL + wagnerHighcharts.com
Literature

Last Modified at May 20, 2025
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