Summary ?
GeneID3107
SymbolHLA-C
SynonymsD6S204|HLA-JY3|HLAC|HLC-C|PSORS1
Descriptionmajor histocompatibility complex, class I, C
ReferenceMIM:142840|HGNC:HGNC:4933|Ensembl:ENSG00000204525|Ensembl:ENST00000400341|Ensembl:ENST00000420206|HPRD:00829|Vega:OTTHUMG00000031154
Gene typeprotein-coding
Map location6p21.3
Pascal p-value1.447E-11
Sherlock p-value0.888
Fetal beta-1.089
eGeneAnterior cingulate cortex BA24
Caudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Cortex
Frontal Cortex BA9
Hippocampus
Hypothalamus
Nucleus accumbens basal ganglia
Putamen basal ganglia
Myers' cis & trans
Meta
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IGenome scan meta-analysisPsr: 0.033 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenics,schizophreniasClick to show details
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0293 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
HLA-Cchr631238897CGNM_001243042
NM_002117
p.191W>S
p.191W>S
missense
missense
SchizophreniaDNM:Xu_2012

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs1111835chr1379482717HLA-C31070.1trans
rs3134789631144695HLA-CENSG00000204525.107.562E-9095187gtex_brain_ba24
rs3131017631147081HLA-CENSG00000204525.107.562E-9092801gtex_brain_ba24
rs1128175631150435HLA-CENSG00000204525.101.453E-6089447gtex_brain_ba24
rs3130509631150618HLA-CENSG00000204525.107.562E-9089264gtex_brain_ba24
rs4343960631156606HLA-CENSG00000204525.107.562E-9083276gtex_brain_ba24
rs3130460631160188HLA-CENSG00000204525.107.562E-9079694gtex_brain_ba24
rs111279592631160597HLA-CENSG00000204525.101.836E-7079285gtex_brain_ba24
rs554577907631160920HLA-CENSG00000204525.101.388E-8078962gtex_brain_ba24
rs3095238631161210HLA-CENSG00000204525.107.562E-9078672gtex_brain_ba24
rs3095237631161347HLA-CENSG00000204525.107.562E-9078535gtex_brain_ba24
rs3130461631164700HLA-CENSG00000204525.107.557E-9075182gtex_brain_ba24
rs3094610631165150HLA-CENSG00000204525.108.137E-9074732gtex_brain_ba24
rs3130462631165277HLA-CENSG00000204525.107.562E-9074605gtex_brain_ba24
rs3094609631165566HLA-CENSG00000204525.107.562E-9074316gtex_brain_ba24
rs3130463631165962HLA-CENSG00000204525.107.562E-9073920gtex_brain_ba24
rs3094608631166683HLA-CENSG00000204525.107.648E-9073199gtex_brain_ba24
rs3094607631169539HLA-CENSG00000204525.109.144E-7070343gtex_brain_ba24
rs3132511631170020HLA-CENSG00000204525.108.914E-10069862gtex_brain_ba24
rs9263875631170914HLA-CENSG00000204525.105.032E-7068968gtex_brain_ba24
rs9281250631172169HLA-CENSG00000204525.109.807E-7067713gtex_brain_ba24
rs3094606631173678HLA-CENSG00000204525.107.621E-10066204gtex_brain_ba24
rs3132509631174521HLA-CENSG00000204525.107.621E-10065361gtex_brain_ba24
rs3132508631174796HLA-CENSG00000204525.104.053E-7065086gtex_brain_ba24
rs3132507631175613HLA-CENSG00000204525.107.621E-10064269gtex_brain_ba24
rs3887152631176335HLA-CENSG00000204525.101.183E-6063547gtex_brain_ba24
rs4457201631177372HLA-CENSG00000204525.101.064E-9062510gtex_brain_ba24
rs9501519631177510HLA-CENSG00000204525.101.028E-8062372gtex_brain_ba24
rs9501352631177519HLA-CENSG00000204525.101.028E-8062363gtex_brain_ba24
rs9501353631177522HLA-CENSG00000204525.101.596E-8062360gtex_brain_ba24
rs9501520631177658HLA-CENSG00000204525.105.101E-8062224gtex_brain_ba24
rs9501521631177740HLA-CENSG00000204525.103.86E-7062142gtex_brain_ba24
rs28744244631177776HLA-CENSG00000204525.103.792E-7062106gtex_brain_ba24
rs28744251631177874HLA-CENSG00000204525.108.331E-9062008gtex_brain_ba24
rs3130952631177915HLA-CENSG00000204525.107.621E-10061967gtex_brain_ba24
rs3130512631178000HLA-CENSG00000204525.107.621E-10061882gtex_brain_ba24
rs17191293631178213HLA-CENSG00000204525.101.716E-8061669gtex_brain_ba24
rs9263927631178233HLA-CENSG00000204525.101.082E-9061649gtex_brain_ba24
rs17197637631178279HLA-CENSG00000204525.108.332E-9061603gtex_brain_ba24
rs9263928631178324HLA-CENSG00000204525.101.146E-9061558gtex_brain_ba24
rs9263929631178328HLA-CENSG00000204525.101.146E-9061554gtex_brain_ba24
rs17191321631178448HLA-CENSG00000204525.108.598E-9061434gtex_brain_ba24
rs17191328631178459HLA-CENSG00000204525.108.624E-9061423gtex_brain_ba24
rs17197665631178465HLA-CENSG00000204525.107.673E-9061417gtex_brain_ba24
rs17197679631178515HLA-CENSG00000204525.108.254E-9061367gtex_brain_ba24
rs9263931631178547HLA-CENSG00000204525.101.197E-9061335gtex_brain_ba24
rs9263933631178626HLA-CENSG00000204525.101.082E-9061256gtex_brain_ba24
rs3132504631178743HLA-CENSG00000204525.107.621E-10061139gtex_brain_ba24
rs3132503631179006HLA-CENSG00000204525.108.082E-10060876gtex_brain_ba24
rs9263936631179159HLA-CENSG00000204525.101.082E-9060723gtex_brain_ba24
rs9263938631179378HLA-CENSG00000204525.101.082E-9060504gtex_brain_ba24
rs9263940631179492HLA-CENSG00000204525.101.082E-9060390gtex_brain_ba24
rs3130466631179932HLA-CENSG00000204525.107.621E-10059950gtex_brain_ba24
rs9263944631180423HLA-CENSG00000204525.101.082E-9059459gtex_brain_ba24
rs9263947631180680HLA-CENSG00000204525.101.082E-9059202gtex_brain_ba24
rs9263952631181346HLA-CENSG00000204525.101.082E-9058536gtex_brain_ba24
rs9263953631181708HLA-CENSG00000204525.101.082E-9058174gtex_brain_ba24
rs575735789631182723HLA-CENSG00000204525.101.082E-9057159gtex_brain_ba24
rs9263956631182971HLA-CENSG00000204525.101.137E-9056911gtex_brain_ba24
rs3869109631184196HLA-CENSG00000204525.101.082E-9055686gtex_brain_ba24
rs9263960631184877HLA-CENSG00000204525.101.707E-9055005gtex_brain_ba24
rs9501089631185810HLA-CENSG00000204525.108.331E-9054072gtex_brain_ba24
rs3132501631185977HLA-CENSG00000204525.107.621E-10053905gtex_brain_ba24
rs9263964631186039HLA-CENSG00000204525.101.082E-9053843gtex_brain_ba24
rs9263967631186245HLA-CENSG00000204525.101.082E-9053637gtex_brain_ba24
rs9263968631186368HLA-CENSG00000204525.101.082E-9053514gtex_brain_ba24
rs3130951631186868HLA-CENSG00000204525.107.698E-10053014gtex_brain_ba24
rs9263978631187568HLA-CENSG00000204525.101.275E-9052314gtex_brain_ba24
rs9263980631188397HLA-CENSG00000204525.101.082E-9051485gtex_brain_ba24
rs3132500631188611HLA-CENSG00000204525.106.094E-9051271gtex_brain_ba24
rs3130950631189952HLA-CENSG00000204525.107.621E-10049930gtex_brain_ba24
rs3130516631190128HLA-CENSG00000204525.106.19E-7049754gtex_brain_ba24
rs3130468631190795HLA-CENSG00000204525.107.621E-10049087gtex_brain_ba24
rs9263986631191070HLA-CENSG00000204525.101.086E-9048812gtex_brain_ba24
rs3130518631191709HLA-CENSG00000204525.107.134E-9048173gtex_brain_ba24
rs9281268631192064HLA-CENSG00000204525.107.621E-10047818gtex_brain_ba24
rs6904669631192796HLA-CENSG00000204525.108.586E-9047086gtex_brain_ba24
rs6904670631192797HLA-CENSG00000204525.108.586E-9047085gtex_brain_ba24
rs4997405631193211HLA-CENSG00000204525.106.649E-9046671gtex_brain_ba24
rs7757983631193764HLA-CENSG00000204525.101.136E-6046118gtex_brain_ba24
rs3899686631193916HLA-CENSG00000204525.107.669E-7045966gtex_brain_ba24
rs3095252631194747HLA-CENSG00000204525.107.621E-10045135gtex_brain_ba24
rs3130520631195120HLA-CENSG00000204525.104.523E-8044762gtex_brain_ba24
rs3130941631197514HLA-CENSG00000204525.104.523E-8042368gtex_brain_ba24
rs3134782631197633HLA-CENSG00000204525.104.523E-8042249gtex_brain_ba24
rs3130528631199460HLA-CENSG00000204525.107.621E-10040422gtex_brain_ba24
rs7757622631200764HLA-CENSG00000204525.106.649E-9039118gtex_brain_ba24
rs3132499631207920HLA-CENSG00000204525.107.621E-10031962gtex_brain_ba24
rs3130532631208453HLA-CENSG00000204525.107.621E-10031429gtex_brain_ba24
rs3132497631208591HLA-CENSG00000204525.101.717E-8031291gtex_brain_ba24
rs3095249631209245HLA-CENSG00000204525.101.852E-8030637gtex_brain_ba24
rs3130695631211050HLA-CENSG00000204525.101.717E-8028832gtex_brain_ba24
rs75899922631213453HLA-CENSG00000204525.107.621E-10026429gtex_brain_ba24
rs3130408631213791HLA-CENSG00000204525.101.717E-8026091gtex_brain_ba24
rs3095246631213879HLA-CENSG00000204525.107.621E-10026003gtex_brain_ba24
rs3134756631214873HLA-CENSG00000204525.101.717E-8025009gtex_brain_ba24
rs3130415631216672HLA-CENSG00000204525.107.621E-10023210gtex_brain_ba24
rs3134753631217479HLA-CENSG00000204525.107.621E-10022403gtex_brain_ba24
rs3130422631218034HLA-CENSG00000204525.107.621E-10021848gtex_brain_ba24
rs3130426631218535HLA-CENSG00000204525.107.621E-10021347gtex_brain_ba24
rs3130428631219090HLA-CENSG00000204525.107.621E-10020792gtex_brain_ba24
rs3134748631220421HLA-CENSG00000204525.105.431E-7019461gtex_brain_ba24
rs3095256631221573HLA-CENSG00000204525.103.325E-7018309gtex_brain_ba24
rs9264218631221895HLA-CENSG00000204525.106.426E-7017987gtex_brain_ba24
rs9264219631221914HLA-CENSG00000204525.104.936E-7017968gtex_brain_ba24
rs9264222631221937HLA-CENSG00000204525.103.041E-10017945gtex_brain_ba24
rs9264224631222019HLA-CENSG00000204525.102.454E-8017863gtex_brain_ba24
rs9264227631222119HLA-CENSG00000204525.105.304E-8017763gtex_brain_ba24
rs9264228631222168HLA-CENSG00000204525.107.985E-8017714gtex_brain_ba24
rs9264230631222196HLA-CENSG00000204525.106.898E-8017686gtex_brain_ba24
rs9264231631222204HLA-CENSG00000204525.104.358E-8017678gtex_brain_ba24
rs9264232631222243HLA-CENSG00000204525.102.655E-7017639gtex_brain_ba24
rs75706959631222394HLA-CENSG00000204525.101.59E-7017488gtex_brain_ba24
rs9264240631222524HLA-CENSG00000204525.102.413E-7017358gtex_brain_ba24
rs9264241631222551HLA-CENSG00000204525.105.102E-9017331gtex_brain_ba24
rs9264242631222584HLA-CENSG00000204525.108.336E-9017298gtex_brain_ba24
rs9264243631222607HLA-CENSG00000204525.101.593E-9017275gtex_brain_ba24
rs9264244631222610HLA-CENSG00000204525.103.367E-8017272gtex_brain_ba24
rs9264245631222694HLA-CENSG00000204525.109.662E-10017188gtex_brain_ba24
rs9264246631222712HLA-CENSG00000204525.109.705E-10017170gtex_brain_ba24
rs9264250631223084HLA-CENSG00000204525.103.795E-7016798gtex_brain_ba24
rs9264252631223262HLA-CENSG00000204525.109.926E-9016620gtex_brain_ba24
rs9264253631223293HLA-CENSG00000204525.101.853E-7016589gtex_brain_ba24
rs9264254631223381HLA-CENSG00000204525.104.064E-8016501gtex_brain_ba24
rs9264255631223391HLA-CENSG00000204525.106.396E-7016491gtex_brain_ba24
rs111465011631223559HLA-CENSG00000204525.101.392E-8016323gtex_brain_ba24
rs147881789631223839HLA-CENSG00000204525.105.893E-8016043gtex_brain_ba24
rs9264266631223862HLA-CENSG00000204525.102.496E-12016020gtex_brain_ba24
rs74928735631223984HLA-CENSG00000204525.103.263E-7015898gtex_brain_ba24
rs6904845631224423HLA-CENSG00000204525.102.069E-7015459gtex_brain_ba24
rs9264278631224797HLA-CENSG00000204525.101.668E-8015085gtex_brain_ba24
rs190274209631224817HLA-CENSG00000204525.102.366E-8015065gtex_brain_ba24
rs74384426631225292HLA-CENSG00000204525.104.51E-9014590gtex_brain_ba24
rs113817890631225312HLA-CENSG00000204525.104.309E-9014570gtex_brain_ba24
rs77610307631225484HLA-CENSG00000204525.106.785E-7014398gtex_brain_ba24
rs149925519631225658HLA-CENSG00000204525.102.518E-8014224gtex_brain_ba24
rs145141163631225708HLA-CENSG00000204525.105.443E-11014174gtex_brain_ba24
rs144345809631225907HLA-CENSG00000204525.101.767E-7013975gtex_brain_ba24
rs9264305631226107HLA-CENSG00000204525.102.05E-7013775gtex_brain_ba24
rs9264306631226159HLA-CENSG00000204525.102.28E-7013723gtex_brain_ba24
rs140216701631226240HLA-CENSG00000204525.103.707E-9013642gtex_brain_ba24
rs112114394631226324HLA-CENSG00000204525.102.322E-7013558gtex_brain_ba24
rs112873992631226507HLA-CENSG00000204525.103.786E-9013375gtex_brain_ba24
rs111841058631226532HLA-CENSG00000204525.101.612E-7013350gtex_brain_ba24
rs112588465631226698HLA-CENSG00000204525.102.271E-7013184gtex_brain_ba24
rs146770955631226730HLA-CENSG00000204525.104.085E-9013152gtex_brain_ba24
rs9264320631226876HLA-CENSG00000204525.105.301E-9013006gtex_brain_ba24
rs9264321631226989HLA-CENSG00000204525.101.969E-7012893gtex_brain_ba24
rs9264322631227121HLA-CENSG00000204525.101.764E-9012761gtex_brain_ba24
rs9264323631227142HLA-CENSG00000204525.101.503E-7012740gtex_brain_ba24
rs9264324631227146HLA-CENSG00000204525.101.504E-7012736gtex_brain_ba24
rs9264325631227151HLA-CENSG00000204525.101.544E-7012731gtex_brain_ba24
rs9264328631227250HLA-CENSG00000204525.101.008E-6012632gtex_brain_ba24
rs9264329631227254HLA-CENSG00000204525.107.898E-8012628gtex_brain_ba24
rs9264330631227263HLA-CENSG00000204525.107.701E-8012619gtex_brain_ba24
rs9264333631227457HLA-CENSG00000204525.105.75E-8012425gtex_brain_ba24
rs9264334631227475HLA-CENSG00000204525.101.424E-9012407gtex_brain_ba24
rs9264335631227494HLA-CENSG00000204525.108.804E-8012388gtex_brain_ba24
rs9264337631227506HLA-CENSG00000204525.108.804E-8012376gtex_brain_ba24
rs9264338631227577HLA-CENSG00000204525.101.849E-7012305gtex_brain_ba24
rs9264339631227588HLA-CENSG00000204525.101.849E-7012294gtex_brain_ba24
rs9264341631227713HLA-CENSG00000204525.101.953E-10012169gtex_brain_ba24
rs9264342631227737HLA-CENSG00000204525.106.681E-11012145gtex_brain_ba24
rs9264343631227752HLA-CENSG00000204525.106.841E-11012130gtex_brain_ba24
rs9264344631227787HLA-CENSG00000204525.106.874E-11012095gtex_brain_ba24
rs9264346631228040HLA-CENSG00000204525.107.932E-10011842gtex_brain_ba24
rs2844631631228054HLA-CENSG00000204525.102.87E-7011828gtex_brain_ba24
rs9264351631228087HLA-CENSG00000204525.107.893E-10011795gtex_brain_ba24
rs9264352631228104HLA-CENSG00000204525.107.891E-10011778gtex_brain_ba24
rs9264353631228174HLA-CENSG00000204525.108.003E-9011708gtex_brain_ba24
rs201342750631228184HLA-CENSG00000204525.103.085E-8011698gtex_brain_ba24
rs9264354631228185HLA-CENSG00000204525.103.645E-10011697gtex_brain_ba24
rs9264355631228186HLA-CENSG00000204525.102.547E-8011696gtex_brain_ba24
rs9264356631228212HLA-CENSG00000204525.102.045E-11011670gtex_brain_ba24
rs9264358631228267HLA-CENSG00000204525.107.372E-8011615gtex_brain_ba24
rs9264362631228327HLA-CENSG00000204525.101.551E-9011555gtex_brain_ba24
rs9264364631228386HLA-CENSG00000204525.109.036E-10011496gtex_brain_ba24
rs9264365631228399HLA-CENSG00000204525.107.939E-10011483gtex_brain_ba24
rs1986997631228410HLA-CENSG00000204525.108.169E-10011472gtex_brain_ba24
rs9264367631228430HLA-CENSG00000204525.105.33E-8011452gtex_brain_ba24
rs9264368631228460HLA-CENSG00000204525.103.421E-10011422gtex_brain_ba24
rs9264374631228666HLA-CENSG00000204525.105.324E-8011216gtex_brain_ba24
rs9264375631228707HLA-CENSG00000204525.107.837E-10011175gtex_brain_ba24
rs3132493631228868HLA-CENSG00000204525.105.324E-8011014gtex_brain_ba24
rs3132492631229016HLA-CENSG00000204525.106.99E-8010866gtex_brain_ba24
rs3130541631229041HLA-CENSG00000204525.104.521E-8010841gtex_brain_ba24
rs9264383631229051HLA-CENSG00000204525.105.438E-8010831gtex_brain_ba24
rs9264384631229055HLA-CENSG00000204525.107.982E-10010827gtex_brain_ba24
rs532807828631229075HLA-CENSG00000204525.105.441E-8010807gtex_brain_ba24
rs9264386631229130HLA-CENSG00000204525.107.807E-10010752gtex_brain_ba24
rs9264387631229173HLA-CENSG00000204525.101.97E-9010709gtex_brain_ba24
rs9264388631229188HLA-CENSG00000204525.102.605E-9010694gtex_brain_ba24
rs9264389631229191HLA-CENSG00000204525.101.339E-7010691gtex_brain_ba24
rs9264390631229196HLA-CENSG00000204525.101.413E-7010686gtex_brain_ba24
rs9264392631229274HLA-CENSG00000204525.104.761E-10010608gtex_brain_ba24
rs9264393631229279HLA-CENSG00000204525.101.497E-15010603gtex_brain_ba24
rs9264394631229282HLA-CENSG00000204525.105.711E-12010600gtex_brain_ba24
rs9264395631229289HLA-CENSG00000204525.101.04E-7010593gtex_brain_ba24
rs9264396631229307HLA-CENSG00000204525.103.057E-14010575gtex_brain_ba24
rs9264397631229366HLA-CENSG00000204525.106.335E-7010516gtex_brain_ba24
rs9264398631229377HLA-CENSG00000204525.106.335E-7010505gtex_brain_ba24
rs2524119631229404HLA-CENSG00000204525.101.696E-16010478gtex_brain_ba24
rs9264402631229444HLA-CENSG00000204525.105.468E-8010438gtex_brain_ba24
rs9264405631229593HLA-CENSG00000204525.107.828E-10010289gtex_brain_ba24
rs9264406631229610HLA-CENSG00000204525.107.828E-10010272gtex_brain_ba24
rs9264407631229669HLA-CENSG00000204525.107.828E-10010213gtex_brain_ba24
rs9357119631229747HLA-CENSG00000204525.105.419E-8010135gtex_brain_ba24
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rs2524089631266522HLA-CENSG00000204525.105.531E-70-26640gtex_brain_putamen_basal
rs2247179631266952HLA-CENSG00000204525.108.343E-90-27070gtex_brain_putamen_basal
rs2853921631267061HLA-CENSG00000204525.108.093E-70-27179gtex_brain_putamen_basal
rs2524060631267422HLA-CENSG00000204525.101.915E-140-27540gtex_brain_putamen_basal
rs2853918631268620HLA-CENSG00000204525.105.531E-70-28738gtex_brain_putamen_basal
rs2524066631269154HLA-CENSG00000204525.105.531E-70-29272gtex_brain_putamen_basal
rs1960278631269874HLA-CENSG00000204525.105.531E-70-29992gtex_brain_putamen_basal
rs549609654631270103HLA-CENSG00000204525.102.447E-130-30221gtex_brain_putamen_basal
rs7750963631271567HLA-CENSG00000204525.101.915E-140-31685gtex_brain_putamen_basal
rs9264873631271700HLA-CENSG00000204525.101.461E-60-31818gtex_brain_putamen_basal
rs6457374631272261HLA-CENSG00000204525.101.915E-140-32379gtex_brain_putamen_basal
rs6457375631272612HLA-CENSG00000204525.102.449E-100-32730gtex_brain_putamen_basal
rs9264962631276435HLA-CENSG00000204525.104.489E-110-36553gtex_brain_putamen_basal
rs1005599631276447HLA-CENSG00000204525.101.991E-120-36565gtex_brain_putamen_basal
rs9265517631297772HLA-CENSG00000204525.103.592E-70-57890gtex_brain_putamen_basal
rs9265622631299760HLA-CENSG00000204525.109.479E-70-59878gtex_brain_putamen_basal
rs2394969631303131HLA-CENSG00000204525.105.642E-70-63249gtex_brain_putamen_basal
rs1634775631303236HLA-CENSG00000204525.106.604E-110-63354gtex_brain_putamen_basal
rs1634770631304222HLA-CENSG00000204525.101.981E-100-64340gtex_brain_putamen_basal
rs1634769631304395HLA-CENSG00000204525.102.203E-100-64513gtex_brain_putamen_basal
rs375326631306779HLA-CENSG00000204525.101.468E-100-66897gtex_brain_putamen_basal
rs2394977631312058HLA-CENSG00000204525.108.856E-90-72176gtex_brain_putamen_basal
rs9265912631313733HLA-CENSG00000204525.101.37E-60-73851gtex_brain_putamen_basal
rs9265940631315033HLA-CENSG00000204525.109.605E-110-75151gtex_brain_putamen_basal
rs9265960631315484HLA-CENSG00000204525.106.258E-70-75602gtex_brain_putamen_basal
rs9265961631315501HLA-CENSG00000204525.102.604E-100-75619gtex_brain_putamen_basal
rs9266043631318630HLA-CENSG00000204525.101.05E-90-78748gtex_brain_putamen_basal
rs9266057631319176HLA-CENSG00000204525.101.153E-90-79294gtex_brain_putamen_basal
rs9266071631319620HLA-CENSG00000204525.108.199E-70-79738gtex_brain_putamen_basal
rs9266076631319785HLA-CENSG00000204525.101.242E-90-79903gtex_brain_putamen_basal
rs5006140631324245HLA-CENSG00000204525.101.48E-70-84363gtex_brain_putamen_basal
rs9266196631324829HLA-CENSG00000204525.108.134E-70-84947gtex_brain_putamen_basal
rs9266197631324830HLA-CENSG00000204525.107.42E-70-84948gtex_brain_putamen_basal
rs1050458631324925HLA-CENSG00000204525.107.78E-70-85043gtex_brain_putamen_basal
rs9266206631324931HLA-CENSG00000204525.104.922E-70-85049gtex_brain_putamen_basal
rs9266214631325049HLA-CENSG00000204525.101.368E-60-85167gtex_brain_putamen_basal
rs9266217631325092HLA-CENSG00000204525.101.401E-60-85210gtex_brain_putamen_basal
rs9266244631325692HLA-CENSG00000204525.101.851E-70-85810gtex_brain_putamen_basal
rs9266245631325702HLA-CENSG00000204525.101.859E-70-85820gtex_brain_putamen_basal
rs9266252631325822HLA-CENSG00000204525.102.103E-70-85940gtex_brain_putamen_basal
rs9266257631325886HLA-CENSG00000204525.101.526E-90-86004gtex_brain_putamen_basal
rs9266262631325932HLA-CENSG00000204525.102.109E-70-86050gtex_brain_putamen_basal
rs2523583631327895HLA-CENSG00000204525.106.201E-80-88013gtex_brain_putamen_basal
rs2523582631328092HLA-CENSG00000204525.101.112E-70-88210gtex_brain_putamen_basal
rs2523578631328542HLA-CENSG00000204525.101.048E-70-88660gtex_brain_putamen_basal

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0032395MHC class II receptor activityNAS3485286 
GO:0032393MHC class I receptor activityNAS1384166 |2708822 |2787363 
|2843461 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0002474antigen processing and presentation of peptide antigen via MHC class IIEA-
GO:0019882antigen processing and presentationIEA-
GO:0006955immune responseIEA-
GO:0006955immune responseNAS1384166 |2708822 |2787363 
|2843461 |3485286 
GO:0044419interspecies interaction between organismsIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005576extracellular regionIEA-
GO:0016020membraneIEA-
GO:0016020membraneNAS3485286 
GO:0016021integral to membraneIEA-
GO:0005886plasma membraneIEA-
GO:0005887integral to plasma membraneNAS1384166 |2708822 |2787363 
|2843461 
GO:0042612MHC class I protein complexIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
B2M-beta-2-microglobulin-HPRD2450918 
CALRCRT | FLJ26680 | RO | SSA | cC1qRcalreticulin-HPRD8769474 
CD8ACD8 | Leu2 | MAL | p32CD8a molecule-HPRD,BioGRID10809759 
HLA-CD6S204 | FLJ27082 | HLA-Cw | HLA-Cw12 | HLA-JY3 | HLC-C | PSORS1major histocompatibility complex, class I, CFRETBioGRID12794140 
HSPA5BIP | FLJ26106 | GRP78 | MIF2heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)-HPRD,BioGRID7957306 
KIR2DL1CD158A | KIR-K64 | KIR221 | NKAT | NKAT1 | p58.1killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1-HPRD9686591 |9768753 
|10820396 |11009104 
|11163076 |11323700 
|12454284 |12794140 
KIR2DL1CD158A | KIR-K64 | KIR221 | NKAT | NKAT1 | p58.1killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1Co-crystal Structure
in vitro
in vivo
Reconstituted Complex
BioGRID9686591 |9768753 
|10429675 |11009104 
|11163076 |11323700 
|12454284 
KIR2DL2CD158B1 | CD158b | NKAT6 | p58.2killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2-HPRD,BioGRID10190900 |10850706 
KIR2DL3CD158B2 | CD158b | GL183 | KIR-023GB | KIR-K7b | KIR-K7c | KIRCL23 | MGC129943 | NKAT | NKAT2 | NKAT2A | NKAT2B | p58killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3-HPRD,BioGRID8692965 |9768753 
|10497191 
KIR2DS1CD158H | CD158a | p50.1killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1-HPRD7650491 |9464792 
KIR2DS2183ActI | CD158J | CD158b | MGC120018 | MGC120020 | MGC149477 | MGC149478 | NKAT5 | cl-49killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2Reconstituted ComplexBioGRID11172020 
LILRB1CD85 | CD85J | FLJ37515 | ILT2 | LIR-1 | LIR1 | MIR-7 | MIR7leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1-HPRD,BioGRID12853576 
LILRB2CD85D | ILT4 | LILRA6 | LIR-2 | LIR2 | MIR-10 | MIR10leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2-HPRD,BioGRID12853576 
TAP2ABC18 | ABCB3 | APT2 | D6S217E | PSF2 | RING11transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)-HPRD,BioGRID9551969 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG ENDOCYTOSIS 183132All SZGR 2.0 genes in this pathway
KEGG CELL ADHESION MOLECULES CAMS 13493All SZGR 2.0 genes in this pathway
KEGG ANTIGEN PROCESSING AND PRESENTATION 8965All SZGR 2.0 genes in this pathway
KEGG NATURAL KILLER CELL MEDIATED CYTOTOXICITY 13792All SZGR 2.0 genes in this pathway
KEGG TYPE I DIABETES MELLITUS 4438All SZGR 2.0 genes in this pathway
KEGG AUTOIMMUNE THYROID DISEASE 5349All SZGR 2.0 genes in this pathway
KEGG ALLOGRAFT REJECTION 3834All SZGR 2.0 genes in this pathway
KEGG GRAFT VERSUS HOST DISEASE 4231All SZGR 2.0 genes in this pathway
KEGG VIRAL MYOCARDITIS 7358All SZGR 2.0 genes in this pathway
REACTOME ANTIGEN PROCESSING CROSS PRESENTATION 7648All SZGR 2.0 genes in this pathway
REACTOME ENDOSOMAL VACUOLAR PATHWAY 97All SZGR 2.0 genes in this pathway
REACTOME ER PHAGOSOME PATHWAY 6140All SZGR 2.0 genes in this pathway
REACTOME IMMUNOREGULATORY INTERACTIONS BETWEEN A LYMPHOID AND A NON LYMPHOID CELL 7037All SZGR 2.0 genes in this pathway
REACTOME INTERFERON GAMMA SIGNALING 6348All SZGR 2.0 genes in this pathway
REACTOME INTERFERON ALPHA BETA SIGNALING 6450All SZGR 2.0 genes in this pathway
REACTOME INTERFERON SIGNALING 159116All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
REACTOME ADAPTIVE IMMUNE SYSTEM 539350All SZGR 2.0 genes in this pathway
REACTOME CYTOKINE SIGNALING IN IMMUNE SYSTEM 270204All SZGR 2.0 genes in this pathway
REACTOME ANTIGEN PRESENTATION FOLDING ASSEMBLY AND PEPTIDE LOADING OF CLASS I MHC 2117All SZGR 2.0 genes in this pathway
REACTOME CLASS I MHC MEDIATED ANTIGEN PROCESSING PRESENTATION 251156All SZGR 2.0 genes in this pathway
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL DN 634384All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 DN 267178All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
THUM SYSTOLIC HEART FAILURE UP 423283All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA DN 11679All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS DN 352225All SZGR 2.0 genes in this pathway
BARRIER COLON CANCER RECURRENCE DN 2016All SZGR 2.0 genes in this pathway
LEE NEURAL CREST STEM CELL DN 11879All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
CAVARD LIVER CANCER MALIGNANT VS BENIGN 3219All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS UP 1037673All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS 1062725All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118744All SZGR 2.0 genes in this pathway
GNATENKO PLATELET SIGNATURE 4828All SZGR 2.0 genes in this pathway
DER IFN ALPHA RESPONSE UP 7448All SZGR 2.0 genes in this pathway
RADAEVA RESPONSE TO IFNA1 UP 5240All SZGR 2.0 genes in this pathway
WIELAND UP BY HBV INFECTION 10166All SZGR 2.0 genes in this pathway
DER IFN BETA RESPONSE UP 10267All SZGR 2.0 genes in this pathway
SANA RESPONSE TO IFNG UP 7850All SZGR 2.0 genes in this pathway
SANA TNF SIGNALING UP 8356All SZGR 2.0 genes in this pathway
DER IFN GAMMA RESPONSE UP 7145All SZGR 2.0 genes in this pathway
GALE APL WITH FLT3 MUTATED DN 1710All SZGR 2.0 genes in this pathway
RORIE TARGETS OF EWSR1 FLI1 FUSION UP 3022All SZGR 2.0 genes in this pathway
WEIGEL OXIDATIVE STRESS BY TBH AND H2O2 3624All SZGR 2.0 genes in this pathway
NATSUME RESPONSE TO INTERFERON BETA UP 7149All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS DN 371218All SZGR 2.0 genes in this pathway
GAJATE RESPONSE TO TRABECTEDIN UP 6745All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY UP 487303All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 419273All SZGR 2.0 genes in this pathway
KIM LRRC3B TARGETS 3024All SZGR 2.0 genes in this pathway
PELLICCIOTTA HDAC IN ANTIGEN PRESENTATION DN 4938All SZGR 2.0 genes in this pathway
WALLACE PROSTATE CANCER RACE UP 299167All SZGR 2.0 genes in this pathway
CAMPS COLON CANCER COPY NUMBER DN 7434All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 3D DN 270181All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973570All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
IZADPANAH STEM CELL ADIPOSE VS BONE UP 12692All SZGR 2.0 genes in this pathway
GAURNIER PSMD4 TARGETS 7355All SZGR 2.0 genes in this pathway
BOQUEST STEM CELL DN 216143All SZGR 2.0 genes in this pathway
HUPER BREAST BASAL VS LUMINAL DN 5944All SZGR 2.0 genes in this pathway
HELLEBREKERS SILENCED DURING TUMOR ANGIOGENESIS 8056All SZGR 2.0 genes in this pathway
WUNDER INFLAMMATORY RESPONSE AND CHOLESTEROL UP 5838All SZGR 2.0 genes in this pathway
RUIZ TNC TARGETS UP 153107All SZGR 2.0 genes in this pathway
LEE EARLY T LYMPHOCYTE DN 5736All SZGR 2.0 genes in this pathway
COLINA TARGETS OF 4EBP1 AND 4EBP2 356214All SZGR 2.0 genes in this pathway
ROME INSULIN TARGETS IN MUSCLE UP 442263All SZGR 2.0 genes in this pathway
KARLSSON TGFB1 TARGETS DN 207139All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430288All SZGR 2.0 genes in this pathway
PHONG TNF RESPONSE VIA P38 COMPLETE 227151All SZGR 2.0 genes in this pathway
PHONG TNF RESPONSE NOT VIA P38 337236All SZGR 2.0 genes in this pathway