AutismKB 2.0

Annotation Detail for HLA-DRB1


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Basic Information Top
Gene Symbol:HLA-DRB1 ( DRB1,DRw10,FLJ75017,FLJ76359,HLA-DR1B,HLA-DRB,HLA-DRB1*,SS1 )
Gene Full Name: major histocompatibility complex, class II, DR beta 1
Band: 6p21.32
Quick LinksEntrez ID:3123; OMIM: 142857; Uniprot ID:2B1F_HUMAN; ENSEMBL ID: ENSG00000196126; HGNC ID: 4948
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body1 / 7076114
blastocyst0 / 623190 
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult137 / 193912170
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus28 / 56401249
neonate3 / 3109796
infant0 / 236200 
juvenile4 / 5555671
adult628 / 1939121323
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204670_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts6953.5
Adipocyte61
AdrenalCortex278.15
Adrenalgland799.9
Amygdala123.1
Appendix533.85
AtrioventricularNode188.65
BDCA4+_DentriticCells9534.75
Bonemarrow692.1
BronchialEpithelialCells61.2
CD105+_Endothelial679.4
CD14+_Monocytes10127.5
CD19+_BCells(neg._sel.)7798.75
CD33+_Myeloid9641.3
CD34+1974.3
CD4+_Tcells651.35
CD56+_NKCells3425.85
CD71+_EarlyErythroid133.45
CD8+_Tcells509.45
CardiacMyocytes74.05
Caudatenucleus135.25
Cerebellum71.7
CerebellumPeduncles94.4
CiliaryGanglion377.9
CingulateCortex62.4
Colorectaladenocarcinoma48.8
DorsalRootGanglion760
FetalThyroid118
Fetalbrain60.7
Fetalliver90.6
Fetallung529.35
GlobusPallidus50.7
Heart3183.4
Hypothalamus463.45
Kidney442.4
Leukemia_chronicMyelogenousK-56254.75
Leukemia_promyelocytic-HL-604554.9
Leukemialymphoblastic(MOLT-4)49.2
Liver1233.05
Lung9559.6
Lymphnode3817.8
Lymphoma_burkitts(Daudi)3033.05
Lymphoma_burkitts(Raji)8797.55
MedullaOblongata62.65
OccipitalLobe73.2
OlfactoryBulb1068.45
Ovary260.7
Pancreas364.55
PancreaticIslet755.85
ParietalLobe63.55
Pituitary577.1
Placenta406.9
Pons137.55
PrefrontalCortex189.9
Prostate655.35
Salivarygland1510.75
SkeletalMuscle98.7
Skin378.05
SmoothMuscle68.05
Spinalcord994
SubthalamicNucleus101.35
SuperiorCervicalGanglion158.25
TemporalLobe124.2
Testis157.5
TestisGermCell233.35
TestisIntersitial116.35
TestisLeydigCell125
TestisSeminiferousTubule107.75
Thalamus152.45
Thymus2852.65
Thyroid697.2
Tongue208.5
Tonsil4516.15
Trachea1294.95
TrigeminalGanglion412.3
Uterus796.15
UterusCorpus409.25
WholeBlood3421.35
Wholebrain138
colon471.15
pineal_day338.86
pineal_night314.04
retina1187.05
small_intestine1978.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P31006
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala4.76 ± 0.46
Basal Forebrain4.77 ± 0.53
Basal Part of Pons5.54 ± 0.51
Cerebellar Cortex4.62 ± 0.4
Cerebellar Nuclei6.17 ± 0.33
Claustrum4.48 ± 0.98
Epithalamus6.64 ± 0.54
Frontal Lobe4.89 ± 0.68
Globus Pallidus6.67 ± 0.46
Hypothalamus5.28 ± 1.52
Insula5.22 ± 0.61
Limbic Lobe4.8 ± 0.67
Mesencephalon5.04 ± 0.7
Myelencephalon5.05 ± 0.8
Occipital Lobe4.64 ± 0.53
Parietal Lobe4.83 ± 0.63
Pontine Tegmentum4.79 ± 0.55
Striatum5.73 ± 0.63
Subthalamus5.3 ± 0.46
Temporal Lobe4.93 ± 0.67
Thalamus4.87 ± 0.48
White Matter6.45 ± 0.81
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
2B11_HUMAN_0 0 0 0 AVTELGRPDAEYWNSQK PRIDE
2B11_HUMAN_0 0 0 0 AVTELGRPDAEYWNSQKDLLEQR PRIDE
2B11_HUMAN_0 0 0 0 FDSDVGEYR PRIDE
2B11_HUMAN_0 0 0 0 HNYGVGESFTVQR PRIDE
PAp00007124 23 196 218 SGEVYTCQVEHPSVTSPLTVEWR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018