AutismKB 2.0

Annotation Detail for HLA-DRB4


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Basic Information Top
Gene Symbol:HLA-DRB4 ( DR-13,DR-14,DR13,DR14,DRB4,HLA-DR4B )
Gene Full Name: major histocompatibility complex, class II, DR beta 4
Band: 6p21.3 alternate reference locus
Quick LinksEntrez ID:3126; OMIM: NA; Uniprot ID:DRB4_HUMAN; ENSEMBL ID: ENSG00000227357; ENSG00000227826; ENSG00000231021; HGNC ID: 4952
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 body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult0 / 19391210 
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult32 / 193912116
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal3 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor8 / 13630258
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma12 / 71755167
non-neoplasia0 / 972500 
normal12 / 33603073
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph1 / 4427022
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine2 / 2344728
kidney0 / 2117770 
larynx1 / 2414541
liver0 / 2077430 
lung11 / 33697432
lymph0 / 442700 
lymph node12 / 91610130
mammary gland0 / 1532710 
mouth6 / 6705289
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209728_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.15
Adipocyte18.75
AdrenalCortex59.7
Adrenalgland82.45
Amygdala26.3
Appendix45.9
AtrioventricularNode12.85
BDCA4+_DentriticCells3945.75
Bonemarrow126.35
BronchialEpithelialCells13.55
CD105+_Endothelial51.95
CD14+_Monocytes13.45
CD19+_BCells(neg._sel.)1039.55
CD33+_Myeloid3985.45
CD34+1693.5
CD4+_Tcells28.9
CD56+_NKCells100.5
CD71+_EarlyErythroid9.35
CD8+_Tcells15.15
CardiacMyocytes16.6
Caudatenucleus17.95
Cerebellum43.4
CerebellumPeduncles22.55
CiliaryGanglion20.2
CingulateCortex41.2
Colorectaladenocarcinoma14.8
DorsalRootGanglion26.7
FetalThyroid14.2
Fetalbrain14.7
Fetalliver25.85
Fetallung23.95
GlobusPallidus12.3
Heart841.4
Hypothalamus25.85
Kidney72.95
Leukemia_chronicMyelogenousK-56217.05
Leukemia_promyelocytic-HL-6039.65
Leukemialymphoblastic(MOLT-4)14.3
Liver39.4
Lung207.65
Lymphnode286
Lymphoma_burkitts(Daudi)27.2
Lymphoma_burkitts(Raji)67.5
MedullaOblongata16.1
OccipitalLobe19.3
OlfactoryBulb115.05
Ovary11.05
Pancreas20.3
PancreaticIslet21.65
ParietalLobe21.45
Pituitary74.35
Placenta15.15
Pons18.35
PrefrontalCortex20.2
Prostate27.35
Salivarygland69.15
SkeletalMuscle25.35
Skin18.15
SmoothMuscle20.4
Spinalcord30.45
SubthalamicNucleus17.4
SuperiorCervicalGanglion24.65
TemporalLobe15.7
Testis27.6
TestisGermCell11.8
TestisIntersitial12.25
TestisLeydigCell15.8
TestisSeminiferousTubule15.3
Thalamus23
Thymus471.45
Thyroid22.6
Tongue20.4
Tonsil375.45
Trachea51.9
TrigeminalGanglion17.9
Uterus29.8
UterusCorpus17.35
WholeBlood1380.2
Wholebrain28.35
colon14.7
pineal_day13.96
pineal_night15.82
retina47.175
small_intestine18.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P370472
  • 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
Amygdala4.1 ± 0.67
Basal Forebrain3.85 ± 0.71
Basal Part of Pons4.72 ± 0.58
Cerebellar Cortex3.81 ± 0.47
Cerebellar Nuclei4.93 ± 0.59
Claustrum3.49 ± 0.83
Epithalamus5.59 ± 0.64
Frontal Lobe4.04 ± 0.73
Globus Pallidus5.8 ± 0.27
Hypothalamus4.29 ± 1.44
Insula4.32 ± 0.52
Limbic Lobe3.97 ± 0.67
Mesencephalon4.25 ± 0.64
Myelencephalon4.24 ± 0.85
Occipital Lobe4.12 ± 0.77
Parietal Lobe3.97 ± 0.63
Pontine Tegmentum4 ± 0.65
Striatum5.08 ± 0.66
Subthalamus4.6 ± 0.47
Temporal Lobe4.15 ± 0.66
Thalamus4.22 ± 0.63
White Matter5.59 ± 0.85
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
2B17_HUMAN_109 13 109 121 HNYGVGESFTVQR PRIDE
2B17_HUMAN_123 11 123 133 VHPEVTVYPAK PRIDE
2B17_HUMAN_58 10 58 67 LFYNQEEFVR PRIDE
2B17_HUMAN_77 23 77 99 AVTELGRPVAESWNSQKDILEDR PRIDE
PAp00007121 25 196 220 SGEVYTCQVEHPSMMSPLTVQWSAR 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


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