Gene Page: DEFB1

Summary ?
GeneID1672
SymbolDEFB1
SynonymsBD1|DEFB-1|DEFB101|HBD1
Descriptiondefensin beta 1
ReferenceMIM:602056|HGNC:HGNC:2766|Ensembl:ENSG00000164825|HPRD:03634|Vega:OTTHUMG00000090367
Gene typeprotein-coding
Map location8p23.1
Pascal p-value0.161
eGeneCerebellum
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs1320385chr154064468DEFB116720.14trans
rs12036675chr154066317DEFB116720.14trans
rs17131472chr191962966DEFB116720.02trans
rs2976809chr3125451738DEFB116720.06trans
rs74483490DEFB116720.07trans
rs10050805chr530805352DEFB116720.14trans
rs9381511chr612931447DEFB116720.1trans
rs819517chr647052415DEFB116720.14trans
rs10948326chr647062800DEFB116720.14trans
rs1159612chr1085329057DEFB116720.05trans
rs10879027chr1270237156DEFB116720.11trans
rs16958302chr1657647432DEFB116720.16trans
rs6095741chr2048666589DEFB116723.2E-6trans
rs5915713chrX4077883DEFB116720.02trans
rs5991662chrX43335796DEFB116720.01trans
rs1545676chrX93530472DEFB116720.01trans

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 V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME DEFENSINS 5112All SZGR 2.0 genes in this pathway
REACTOME BETA DEFENSINS 4210All SZGR 2.0 genes in this pathway
REACTOME INNATE IMMUNE SYSTEM 279178All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
SCHUETZ BREAST CANCER DUCTAL INVASIVE DN 8453All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 DN 17582All SZGR 2.0 genes in this pathway
JAEGER METASTASIS DN 258141All SZGR 2.0 genes in this pathway
TAKEDA TARGETS OF NUP98 HOXA9 FUSION 8D UP 15791All SZGR 2.0 genes in this pathway
TAKEDA TARGETS OF NUP98 HOXA9 FUSION 10D UP 194122All SZGR 2.0 genes in this pathway
TAKEDA TARGETS OF NUP98 HOXA9 FUSION 16D UP 175108All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
YANG BREAST CANCER ESR1 BULK DN 2315All SZGR 2.0 genes in this pathway
SHETH LIVER CANCER VS TXNIP LOSS PAM1 229137All SZGR 2.0 genes in this pathway
LEE LIVER CANCER ACOX1 UP 6440All SZGR 2.0 genes in this pathway
LEE LIVER CANCER MYC E2F1 UP 5634All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
LEE LIVER CANCER E2F1 UP 6235All SZGR 2.0 genes in this pathway
ALCALAY AML BY NPM1 LOCALIZATION UP 14083All SZGR 2.0 genes in this pathway
STOSSI RESPONSE TO ESTRADIOL 5035All SZGR 2.0 genes in this pathway
VERHAAK AML WITH NPM1 MUTATED UP 183111All SZGR 2.0 genes in this pathway
CHANG IMMORTALIZED BY HPV31 DN 6545All SZGR 2.0 genes in this pathway
DURCHDEWALD SKIN CARCINOGENESIS DN 264168All SZGR 2.0 genes in this pathway
ACEVEDO NORMAL TISSUE ADJACENT TO LIVER TUMOR DN 354216All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER DN 540340All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE DN 274165All SZGR 2.0 genes in this pathway
ACEVEDO METHYLATED IN LIVER CANCER DN 940425All SZGR 2.0 genes in this pathway
SMID BREAST CANCER LUMINAL B DN 564326All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP 648398All SZGR 2.0 genes in this pathway
SPIRA SMOKERS LUNG CANCER UP 3824All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER ESR1 DN 240153All SZGR 2.0 genes in this pathway
OHGUCHI LIVER HNF4A TARGETS UP 4430All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP A 898516All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308187All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL DN 428246All SZGR 2.0 genes in this pathway