Summary ?
GeneID10767
SymbolHBS1L
SynonymsEF-1a|ERFS|HBS1|HSPC276|eRF3c
DescriptionHBS1 like translational GTPase
ReferenceMIM:612450|HGNC:HGNC:4834|Ensembl:ENSG00000112339|HPRD:06582|Vega:OTTHUMG00000015626
Gene typeprotein-coding
Map location6q23.3
Pascal p-value0.984
Sherlock p-value0.96
Fetal beta-0.678
DMG1 (# studies)
eGeneCaudate basal ganglia
Hippocampus
Hypothalamus
Nucleus accumbens basal ganglia
Putamen basal ganglia
Myers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg246658396135375929HBS1L2.47E-9-0.0071.84E-6DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4646871chr6135265616HBS1L107671.382E-5cis
rs4472368chr6135274231HBS1L107679.267E-5cis
rs4289677chr6135275484HBS1L107676.488E-4cis
rs4896118chr6135276064HBS1L107676.755E-5cis
rs1014021chr6135334599HBS1L107670.01cis
rs6923765chr6135335175HBS1L107670.01cis
rs4896128chr6135349755HBS1L107676.986E-5cis
rs1590975chr6135352087HBS1L107670cis
rs9321481chr6135352647HBS1L107670cis
rs11754265chr6135356215HBS1L107670.01cis
rs7741515chr6135374367HBS1L107670cis
rs2150681chr6135375231HBS1L107670cis
rs1547247chr6135390835HBS1L107670.05cis
rs4646871chr6135265616HBS1L107670trans
rs4472368chr6135274231HBS1L107670.01trans
rs4289677chr6135275484HBS1L107670.05trans
rs4896118chr6135276064HBS1L107670.01trans
rs4896128chr6135349755HBS1L107670.01trans
rs1590975chr6135352087HBS1L107670.19trans
rs9321481chr6135352647HBS1L107670.14trans
rs7741515chr6135374367HBS1L107670.14trans
rs2150681chr6135375231HBS1L107670.11trans
rs38177766135256756HBS1LENSG00000112339.101.517E-80167438gtex_brain_putamen_basal
rs674228576135259753HBS1LENSG00000112339.106.384E-90164441gtex_brain_putamen_basal
rs2022303636135259759HBS1LENSG00000112339.108.018E-90164435gtex_brain_putamen_basal
rs46468716135265617HBS1LENSG00000112339.108.018E-120158577gtex_brain_putamen_basal
rs50128746135267925HBS1LENSG00000112339.101.272E-60156269gtex_brain_putamen_basal
rs77491066135268142HBS1LENSG00000112339.101.546E-90156052gtex_brain_putamen_basal
rs2001829236135268982HBS1LENSG00000112339.106.511E-90155212gtex_brain_putamen_basal
rs46468686135271946HBS1LENSG00000112339.101.206E-110152248gtex_brain_putamen_basal
rs46468676135272080HBS1LENSG00000112339.101.705E-60152114gtex_brain_putamen_basal
rs42679676135272477HBS1LENSG00000112339.101.91E-120151717gtex_brain_putamen_basal
rs77713106135272535HBS1LENSG00000112339.101.233E-60151659gtex_brain_putamen_basal
rs710067466135273396HBS1LENSG00000112339.101.452E-60150798gtex_brain_putamen_basal
rs44723686135274232HBS1LENSG00000112339.108.952E-110149962gtex_brain_putamen_basal
rs42896776135275485HBS1LENSG00000112339.103.76E-60148709gtex_brain_putamen_basal
rs44404816135276696HBS1LENSG00000112339.105.553E-120147498gtex_brain_putamen_basal
rs45200256135278619HBS1LENSG00000112339.103.446E-60145575gtex_brain_putamen_basal
rs44511506135279063HBS1LENSG00000112339.103.76E-60145131gtex_brain_putamen_basal
rs93760726135280519HBS1LENSG00000112339.101.196E-110143675gtex_brain_putamen_basal
rs11352056135281795HBS1LENSG00000112339.102.562E-110142399gtex_brain_putamen_basal
rs93892486135282656HBS1LENSG00000112339.101.375E-110141538gtex_brain_putamen_basal
rs617384926135282771HBS1LENSG00000112339.105.381E-70141423gtex_brain_putamen_basal
rs44753426135283348HBS1LENSG00000112339.102.232E-110140846gtex_brain_putamen_basal
rs93991296135285148HBS1LENSG00000112339.105.019E-120139046gtex_brain_putamen_basal
rs131992056135286505HBS1LENSG00000112339.101.622E-110137689gtex_brain_putamen_basal
rs48954346135293365HBS1LENSG00000112339.104.743E-100130829gtex_brain_putamen_basal
rs48961196135293391HBS1LENSG00000112339.105.363E-120130803gtex_brain_putamen_basal
rs48954356135293463HBS1LENSG00000112339.104.735E-100130731gtex_brain_putamen_basal
rs48961206135293512HBS1LENSG00000112339.101.445E-100130682gtex_brain_putamen_basal
rs48961216135293645HBS1LENSG00000112339.105.59E-110130549gtex_brain_putamen_basal
rs77556806135294259HBS1LENSG00000112339.105.118E-120129935gtex_brain_putamen_basal
rs48954366135295001HBS1LENSG00000112339.105.118E-120129193gtex_brain_putamen_basal
rs48961226135295081HBS1LENSG00000112339.108.063E-120129113gtex_brain_putamen_basal
rs48961236135295410HBS1LENSG00000112339.104.53E-100128784gtex_brain_putamen_basal
rs44077326135296073HBS1LENSG00000112339.101.87E-110128121gtex_brain_putamen_basal
rs93760756135296963HBS1LENSG00000112339.105.118E-120127231gtex_brain_putamen_basal
rs42737046135297520HBS1LENSG00000112339.105.118E-120126674gtex_brain_putamen_basal
rs46376626135298158HBS1LENSG00000112339.105.118E-120126036gtex_brain_putamen_basal
rs93760776135299713HBS1LENSG00000112339.105.118E-120124481gtex_brain_putamen_basal
rs351230506135302740HBS1LENSG00000112339.101.416E-100121454gtex_brain_putamen_basal
rs43763656135307740HBS1LENSG00000112339.105.11E-120116454gtex_brain_putamen_basal
rs44450706135309212HBS1LENSG00000112339.101.657E-110114982gtex_brain_putamen_basal
rs43883046135309597HBS1LENSG00000112339.108.488E-120114597gtex_brain_putamen_basal
rs132186426135309940HBS1LENSG00000112339.105.439E-110114254gtex_brain_putamen_basal
rs44511516135310546HBS1LENSG00000112339.101.301E-110113648gtex_brain_putamen_basal
rs111547906135312945HBS1LENSG00000112339.103.31E-120111249gtex_brain_putamen_basal
rs69254246135313948HBS1LENSG00000112339.105.345E-110110246gtex_brain_putamen_basal
rs69029546135313994HBS1LENSG00000112339.105.345E-110110200gtex_brain_putamen_basal
rs77416266135314182HBS1LENSG00000112339.105.379E-120110012gtex_brain_putamen_basal
rs69099756135315570HBS1LENSG00000112339.101.423E-100108624gtex_brain_putamen_basal
rs3980853246135316234HBS1LENSG00000112339.105.345E-110107960gtex_brain_putamen_basal
rs48954386135317665HBS1LENSG00000112339.105.019E-120106529gtex_brain_putamen_basal
rs77731266135318390HBS1LENSG00000112339.101.423E-100105804gtex_brain_putamen_basal
rs48954396135318854HBS1LENSG00000112339.105.019E-120105340gtex_brain_putamen_basal
rs3978023846135319562HBS1LENSG00000112339.103.381E-120104632gtex_brain_putamen_basal
rs176389706135320063HBS1LENSG00000112339.105.37E-110104131gtex_brain_putamen_basal
rs117545046135321509HBS1LENSG00000112339.105.019E-120102685gtex_brain_putamen_basal
rs94026736135322620HBS1LENSG00000112339.103.462E-100101574gtex_brain_putamen_basal
rs96883426135323026HBS1LENSG00000112339.103.046E-100101168gtex_brain_putamen_basal
rs742799656135323203HBS1LENSG00000112339.109.171E-100100991gtex_brain_putamen_basal
rs1997310396135324050HBS1LENSG00000112339.103.419E-110100144gtex_brain_putamen_basal
rs780741096135324052HBS1LENSG00000112339.104.479E-110100142gtex_brain_putamen_basal
rs45591006135324085HBS1LENSG00000112339.105.355E-110100109gtex_brain_putamen_basal
rs125277076135324511HBS1LENSG00000112339.104.578E-11099683gtex_brain_putamen_basal
rs125276836135324534HBS1LENSG00000112339.105.019E-12099660gtex_brain_putamen_basal
rs93892516135325717HBS1LENSG00000112339.105.345E-11098477gtex_brain_putamen_basal
rs94026756135325794HBS1LENSG00000112339.105.019E-12098400gtex_brain_putamen_basal
rs125260556135325918HBS1LENSG00000112339.105.019E-12098276gtex_brain_putamen_basal
rs69296616135328792HBS1LENSG00000112339.105.345E-11095402gtex_brain_putamen_basal
rs93892536135329755HBS1LENSG00000112339.105.019E-12094439gtex_brain_putamen_basal
rs23275786135329969HBS1LENSG00000112339.106.402E-11094225gtex_brain_putamen_basal
rs93892546135330709HBS1LENSG00000112339.102.659E-11093485gtex_brain_putamen_basal
rs93892556135330873HBS1LENSG00000112339.101.032E-9093321gtex_brain_putamen_basal
rs93892566135331254HBS1LENSG00000112339.109.431E-12092940gtex_brain_putamen_basal
rs69105306135332770HBS1LENSG00000112339.101.127E-8091424gtex_brain_putamen_basal
rs10140206135334426HBS1LENSG00000112339.105.019E-12089768gtex_brain_putamen_basal
rs10140216135334600HBS1LENSG00000112339.101.625E-11089594gtex_brain_putamen_basal
rs10414816135335063HBS1LENSG00000112339.105.019E-12089131gtex_brain_putamen_basal
rs69237656135335176HBS1LENSG00000112339.105.019E-12089018gtex_brain_putamen_basal
rs69238276135335382HBS1LENSG00000112339.103.251E-10088812gtex_brain_putamen_basal
rs69024386135336587HBS1LENSG00000112339.105.019E-12087607gtex_brain_putamen_basal
rs69028886135336857HBS1LENSG00000112339.105.351E-11087337gtex_brain_putamen_basal
rs93857136135337039HBS1LENSG00000112339.101.113E-8087155gtex_brain_putamen_basal
rs69086816135337733HBS1LENSG00000112339.105.019E-12086461gtex_brain_putamen_basal
rs3864087026135338053HBS1LENSG00000112339.104.135E-12086141gtex_brain_putamen_basal
rs2006056236135339133HBS1LENSG00000112339.103.26E-11085061gtex_brain_putamen_basal
rs37567996135341011HBS1LENSG00000112339.105.292E-12083183gtex_brain_putamen_basal
rs593297606135342437HBS1LENSG00000112339.105.345E-11081757gtex_brain_putamen_basal
rs48961256135342569HBS1LENSG00000112339.105.345E-11081625gtex_brain_putamen_basal
rs48961266135342786HBS1LENSG00000112339.104.975E-12081408gtex_brain_putamen_basal
rs9780366135342903HBS1LENSG00000112339.105.019E-12081291gtex_brain_putamen_basal
rs9495476135343499HBS1LENSG00000112339.106.8E-11080695gtex_brain_putamen_basal
rs10231796135343829HBS1LENSG00000112339.102.931E-12080365gtex_brain_putamen_basal
rs93892576135344311HBS1LENSG00000112339.105.019E-12079883gtex_brain_putamen_basal
rs93760826135346389HBS1LENSG00000112339.105.019E-12077805gtex_brain_putamen_basal
rs3977016886135346639HBS1LENSG00000112339.103.239E-10077555gtex_brain_putamen_basal
rs21506806135347131HBS1LENSG00000112339.105.345E-11077063gtex_brain_putamen_basal
rs117569886135347595HBS1LENSG00000112339.105.345E-11076599gtex_brain_putamen_basal
rs117547836135347661HBS1LENSG00000112339.105.345E-11076533gtex_brain_putamen_basal
rs9526746135349157HBS1LENSG00000112339.107.47E-12075037gtex_brain_putamen_basal
rs126614236135349570HBS1LENSG00000112339.105.024E-11074624gtex_brain_putamen_basal
rs9876906135350379HBS1LENSG00000112339.105.019E-12073815gtex_brain_putamen_basal
rs3977168906135350485HBS1LENSG00000112339.105.882E-12073709gtex_brain_putamen_basal
rs77503006135350950HBS1LENSG00000112339.105.019E-12073244gtex_brain_putamen_basal
rs15909756135352088HBS1LENSG00000112339.102.543E-11072106gtex_brain_putamen_basal
rs65699886135352303HBS1LENSG00000112339.103.251E-10071891gtex_brain_putamen_basal
rs69198626135352443HBS1LENSG00000112339.105.345E-11071751gtex_brain_putamen_basal
rs93214816135352648HBS1LENSG00000112339.105.019E-12071546gtex_brain_putamen_basal
rs108724276135353452HBS1LENSG00000112339.105.341E-11070742gtex_brain_putamen_basal
rs77661896135353851HBS1LENSG00000112339.105.345E-11070343gtex_brain_putamen_basal
rs742799666135354072HBS1LENSG00000112339.104.147E-11070122gtex_brain_putamen_basal
rs41340306135354094HBS1LENSG00000112339.104.836E-9070100gtex_brain_putamen_basal
rs48961306135355118HBS1LENSG00000112339.104.449E-10069076gtex_brain_putamen_basal
rs94026766135355507HBS1LENSG00000112339.105.345E-11068687gtex_brain_putamen_basal
rs77482746135355723HBS1LENSG00000112339.101.625E-11068471gtex_brain_putamen_basal
rs117542656135356216HBS1LENSG00000112339.103.251E-10067978gtex_brain_putamen_basal
rs77425426135358567HBS1LENSG00000112339.105.369E-11065627gtex_brain_putamen_basal
rs614595696135359508HBS1LENSG00000112339.108.351E-11064686gtex_brain_putamen_basal
rs18548656135360300HBS1LENSG00000112339.101.557E-11063894gtex_brain_putamen_basal
rs93892586135361140HBS1LENSG00000112339.105.349E-11063054gtex_brain_putamen_basal
rs77638366135362378HBS1LENSG00000112339.102.131E-10061816gtex_brain_putamen_basal
rs23275806135364417HBS1LENSG00000112339.105.345E-11059777gtex_brain_putamen_basal
rs65699906135365818HBS1LENSG00000112339.101.094E-10058376gtex_brain_putamen_basal
rs131915016135366880HBS1LENSG00000112339.102.913E-11057314gtex_brain_putamen_basal
rs3980853266135367389HBS1LENSG00000112339.105.225E-11056805gtex_brain_putamen_basal
rs69085126135367757HBS1LENSG00000112339.103.326E-11056437gtex_brain_putamen_basal
rs132097896135367916HBS1LENSG00000112339.105.345E-11056278gtex_brain_putamen_basal
rs93991356135368314HBS1LENSG00000112339.104.449E-10055880gtex_brain_putamen_basal
rs69157706135369214HBS1LENSG00000112339.105.345E-11054980gtex_brain_putamen_basal
rs345466906135369709HBS1LENSG00000112339.102.131E-10054485gtex_brain_putamen_basal
rs117552296135369913HBS1LENSG00000112339.103.326E-11054281gtex_brain_putamen_basal
rs117599996135370495HBS1LENSG00000112339.102.677E-11053699gtex_brain_putamen_basal
rs117600006135370496HBS1LENSG00000112339.104.229E-11053698gtex_brain_putamen_basal
rs94026776135370708HBS1LENSG00000112339.102.427E-11053486gtex_brain_putamen_basal
rs93892616135371148HBS1LENSG00000112339.103.407E-11053046gtex_brain_putamen_basal
rs93760856135371224HBS1LENSG00000112339.102.352E-11052970gtex_brain_putamen_basal
rs93760866135371329HBS1LENSG00000112339.105.503E-11052865gtex_brain_putamen_basal
rs94026786135372103HBS1LENSG00000112339.105.503E-11052091gtex_brain_putamen_basal
rs93760876135372231HBS1LENSG00000112339.103.75E-9051963gtex_brain_putamen_basal
rs10414806135373076HBS1LENSG00000112339.105.503E-11051118gtex_brain_putamen_basal
rs93731226135373534HBS1LENSG00000112339.102.178E-10050660gtex_brain_putamen_basal
rs77415156135374368HBS1LENSG00000112339.105.503E-11049826gtex_brain_putamen_basal
rs21506816135375232HBS1LENSG00000112339.101.925E-10048962gtex_brain_putamen_basal
rs22973386135375762HBS1LENSG00000112339.102.639E-11048432gtex_brain_putamen_basal
rs22973396135375991HBS1LENSG00000112339.101.031E-11048203gtex_brain_putamen_basal
rs22973406135376058HBS1LENSG00000112339.105.503E-11048136gtex_brain_putamen_basal
rs283845126135376232HBS1LENSG00000112339.106.769E-11047962gtex_brain_putamen_basal
rs412948526135376379HBS1LENSG00000112339.101.921E-10047815gtex_brain_putamen_basal
rs93892626135376409HBS1LENSG00000112339.102.634E-11047785gtex_brain_putamen_basal
rs21837096135377091HBS1LENSG00000112339.102.629E-11047103gtex_brain_putamen_basal
rs41422996135377186HBS1LENSG00000112339.102.629E-11047008gtex_brain_putamen_basal
rs21506826135377632HBS1LENSG00000112339.105.484E-11046562gtex_brain_putamen_basal
rs3977969246135378253HBS1LENSG00000112339.102.074E-10045941gtex_brain_putamen_basal
rs2007690996135383222HBS1LENSG00000112339.107.508E-7040972gtex_brain_putamen_basal
rs117575776135391465HBS1LENSG00000112339.105.865E-9032729gtex_brain_putamen_basal
rs48961316135392100HBS1LENSG00000112339.107.274E-9032094gtex_brain_putamen_basal
rs94026816135397301HBS1LENSG00000112339.101.5E-6026893gtex_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:0000166nucleotide bindingIEA-
GO:0003746translation elongation factor activityIEA-
GO:0003924GTPase activityIEA-
GO:0005525GTP bindingIEA-
GO:0005525GTP bindingTAS9872408 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006412translationTAS9872408 
GO:0007165signal transductionTAS9872408 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
HOLLMANN APOPTOSIS VIA CD40 UP 201125All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 UP 408247All SZGR 2.0 genes in this pathway
WILCOX RESPONSE TO PROGESTERONE UP 15290All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA DN 320184All SZGR 2.0 genes in this pathway
WANG CLIM2 TARGETS DN 186114All SZGR 2.0 genes in this pathway
ODONNELL TFRC TARGETS UP 456228All SZGR 2.0 genes in this pathway
BIDUS METASTASIS UP 214134All SZGR 2.0 genes in this pathway
DARWICHE SKIN TUMOR PROMOTER UP 14296All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK LOW UP 162104All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK HIGH UP 147101All SZGR 2.0 genes in this pathway
DARWICHE SQUAMOUS CELL CARCINOMA UP 146104All SZGR 2.0 genes in this pathway
FRIDMAN SENESCENCE UP 7760All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS LATE PROGENITOR 544307All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3 491310All SZGR 2.0 genes in this pathway
ZHENG FOXP3 TARGETS IN THYMUS UP 196137All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673430All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS UP 602364All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS UP 601369All SZGR 2.0 genes in this pathway
BOCHKIS FOXA2 TARGETS 425261All SZGR 2.0 genes in this pathway
AGUIRRE PANCREATIC CANCER COPY NUMBER DN 238145All SZGR 2.0 genes in this pathway
HOFFMANN IMMATURE TO MATURE B LYMPHOCYTE DN 5036All SZGR 2.0 genes in this pathway
SHEDDEN LUNG CANCER POOR SURVIVAL A6 456285All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 AND SATB1 UP 8752All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 DN 448282All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-200bc/4291481541Ahsa-miR-200bUAAUACUGCCUGGUAAUGAUGAC
hsa-miR-200cUAAUACUGCCGGGUAAUGAUGG
hsa-miR-429UAAUACUGUCUGGUAAAACCGU