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
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor6 / 11424652
esophageal tumor3 / 17290173
gastrointestinal tumor8 / 11936967
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia5 / 9584252
liver tumor2 / 9635920
lung tumor14 / 103127135
lymphoma20 / 71755278
non-neoplasia3 / 9725030
normal175 / 336030752
ovarian tumor0 / 766820 
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor9 / 9025799
adrenal tumor8 / 12794625
bladder carcinoma9 / 17475515
breast (mammary gland) tumor17 / 94178180
cervical tumor1 / 3436629
chondrosarcoma22 / 82823265
colorectal tumor44 / 114246385
esophageal tumor3 / 17290173
gastrointestinal tumor37 / 119369309
germ cell tumor6 / 26384522
glioma13 / 106883121
head and neck tumor49 / 136302359
kidney tumor27 / 68959391
leukemia16 / 95842166
liver tumor5 / 9635951
lung tumor44 / 103127426
lymphoma124 / 717551728
non-neoplasia30 / 97250308
normal762 / 3360307226
ovarian tumor24 / 76682312
pancreatic tumor44 / 104616420
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer7 / 10268068
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor54 / 90257598
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites0 / 400150 
bladder0 / 297570 
blood8 / 12347864
bone0 / 716550 
bone marrow0 / 488010 
brain25 / 110098922
cervix0 / 481710 
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus4 / 20209197
eye2 / 2110549
heart2 / 8962622
intestine11 / 23447246
kidney8 / 21177737
larynx2 / 2414582
liver2 / 2077439
lung71 / 336974210
lymph15 / 44270338
lymph node16 / 91610174
mammary gland3 / 15327119
mouth1 / 6705214
muscle1 / 1077159
nerve1 / 1576863
ovary1 / 1020519
pancreas16 / 21481274
parathyroid0 / 205390 
pharynx12 / 41328290
pituitary gland0 / 165850 
placenta11 / 28082539
prostate4 / 18934521
salivary gland0 / 201550 
skin4 / 21057418
spleen7 / 53952129
stomach12 / 96619124
testis8 / 33044224
thymus4 / 8113149
thyroid5 / 47473105
tonsil24 / 169991411
trachea0 / 524130 
umbilical cord0 / 136800 
uterus12 / 23287851
vascular0 / 517800 
adipose tissue4 / 13106305
adrenal gland9 / 33197271
ascites4 / 4001599
bladder7 / 29757235
blood27 / 123478218
bone6 / 7165583
bone marrow4 / 4880181
brain86 / 110098978
cervix3 / 4817162
connective tissue32 / 149255214
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus3 / 20209148
eye30 / 211054142
heart8 / 8962689
intestine69 / 234472294
kidney40 / 211777188
larynx3 / 24145124
liver8 / 20774338
lung271 / 336974804
lymph79 / 442701784
lymph node73 / 91610796
mammary gland38 / 153271247
mouth16 / 67052238
muscle14 / 107715129
nerve5 / 15768317
ovary32 / 102051313
pancreas60 / 214812279
parathyroid7 / 20539340
pharynx28 / 41328677
pituitary gland2 / 16585120
placenta10 / 28082535
prostate28 / 189345147
salivary gland7 / 20155347
skin97 / 210574460
spleen33 / 53952611
stomach64 / 96619662
testis12 / 33044236
thymus24 / 81131295
thyroid19 / 47473400
tonsil61 / 169993588
trachea4 / 5241376
umbilical cord1 / 1368073
uterus81 / 232878347
vascular9 / 51780173
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