AutismKB 2.0

Annotation Detail for HLA-DQA1


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Basic Information Top
Gene Symbol:HLA-DQA1 ( CD,CELIAC1,DQ-A1,FLJ27088,FLJ27328,GSE,HLA-DQA,MGC149527 )
Gene Full Name: major histocompatibility complex, class II, DQ alpha 1
Band: 6p21.32
Quick LinksEntrez ID:3117; OMIM: 146880; Uniprot ID:DQA1_HUMAN; ENSEMBL ID: ENSG00000196735; HGNC ID: 4942
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 
fetus26 / 56401246
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult206 / 1939121106
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult50 / 193912125
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor4 / 9417842
cervical tumor3 / 3436687
chondrosarcoma8 / 8282396
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia9 / 9584293
liver tumor3 / 9635931
lung tumor14 / 103127135
lymphoma53 / 71755738
non-neoplasia11 / 97250113
normal311 / 336030792
ovarian tumor9 / 76682117
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor11 / 90257121
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia9 / 9584293
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma8 / 71755111
non-neoplasia0 / 972500 
normal45 / 336030713
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
adrenal tumor1 / 1279478
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 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal0 / 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 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland5 / 33197150
ascites0 / 400150 
bladder1 / 2975733
blood24 / 123478194
bone2 / 7165527
bone marrow2 / 4880140
brain20 / 110098918
cervix3 / 4817162
connective tissue17 / 149255113
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye12 / 21105456
heart3 / 8962633
intestine25 / 234472106
kidney12 / 21177756
larynx0 / 241450 
liver8 / 20774338
lung77 / 336974228
lymph27 / 44270609
lymph node56 / 91610611
mammary gland5 / 15327132
mouth3 / 6705244
muscle1 / 1077159
nerve0 / 157680 
ovary10 / 10205197
pancreas20 / 21481293
parathyroid6 / 20539292
pharynx31 / 41328750
pituitary gland1 / 1658560
placenta7 / 28082524
prostate8 / 18934542
salivary gland0 / 201550 
skin4 / 21057418
spleen7 / 53952129
stomach41 / 96619424
testis3 / 3304429
thymus8 / 8113198
thyroid3 / 4747363
tonsil20 / 169991176
trachea2 / 5241338
umbilical cord0 / 136800 
uterus24 / 232878103
vascular3 / 5178057
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood9 / 12347872
bone0 / 716550 
bone marrow1 / 4880120
brain6 / 11009895
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart2 / 8962622
intestine1 / 2344724
kidney6 / 21177728
larynx1 / 2414541
liver0 / 2077430 
lung22 / 33697465
lymph1 / 4427022
lymph node10 / 91610109
mammary gland1 / 1532716
mouth4 / 6705259
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach3 / 9661931
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil6 / 16999352
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
vascular2 / 5178038
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 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 
lung0 / 3369740 
lymph0 / 442700 
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 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213831_at
Cell line Expression level Expression bar
721_B_lymphoblasts307.9
Adipocyte5.3
AdrenalCortex5.75
Adrenalgland4.65
Amygdala5.4
Appendix5.55
AtrioventricularNode4.6
BDCA4+_DentriticCells387.55
Bonemarrow5.55
BronchialEpithelialCells5
CD105+_Endothelial5.4
CD14+_Monocytes43.85
CD19+_BCells(neg._sel.)197.6
CD33+_Myeloid20.85
CD34+6.85
CD4+_Tcells5.9
CD56+_NKCells40.25
CD71+_EarlyErythroid5
CD8+_Tcells5.1
CardiacMyocytes6.7
Caudatenucleus4.85
Cerebellum4.35
CerebellumPeduncles6.2
CiliaryGanglion4.4
CingulateCortex5.55
Colorectaladenocarcinoma5.3
DorsalRootGanglion4.3
FetalThyroid5.2
Fetalbrain5.2
Fetalliver4.7
Fetallung4.5
GlobusPallidus4.15
Heart7.15
Hypothalamus5.8
Kidney4.4
Leukemia_chronicMyelogenousK-5624.8
Leukemia_promyelocytic-HL-6083.7
Leukemialymphoblastic(MOLT-4)4.3
Liver7.65
Lung5.85
Lymphnode101.65
Lymphoma_burkitts(Daudi)178.05
Lymphoma_burkitts(Raji)269.25
MedullaOblongata4.9
OccipitalLobe4.85
OlfactoryBulb4.25
Ovary3.55
Pancreas4.45
PancreaticIslet22
ParietalLobe5.65
Pituitary6.3
Placenta5.6
Pons6.8
PrefrontalCortex6.15
Prostate6.25
Salivarygland10.8
SkeletalMuscle7
Skin4.35
SmoothMuscle5.9
Spinalcord8.5
SubthalamicNucleus5.35
SuperiorCervicalGanglion6.4
TemporalLobe4.95
Testis4.6
TestisGermCell4.2
TestisIntersitial4.4
TestisLeydigCell5.35
TestisSeminiferousTubule4.55
Thalamus5.5
Thymus52.2
Thyroid6.85
Tongue5.55
Tonsil70.8
Trachea8.2
TrigeminalGanglion5.5
Uterus4.25
UterusCorpus5.2
WholeBlood11.35
Wholebrain4.3
colon16.55
pineal_day7.08
pineal_night8.5
retina8.8
small_intestine429.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P393230
  • 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
Amygdala2.12 ± 1.02
Basal Forebrain1.68 ± 0.2
Basal Part of Pons1.37 ± 0.41
Cerebellar Cortex1.48 ± 0.71
Cerebellar Nuclei2.02 ± 0.74
Claustrum2.48 ± 0.76
Epithalamus1.37 ± 0.72
Frontal Lobe1.54 ± 0.67
Globus Pallidus2.38 ± 0.33
Hypothalamus1.76 ± 0.64
Insula1.55 ± 0.51
Limbic Lobe1.71 ± 0.62
Mesencephalon1.82 ± 0.67
Myelencephalon1.75 ± 0.68
Occipital Lobe1.7 ± 0.48
Parietal Lobe1.68 ± 0.72
Pontine Tegmentum1.76 ± 0.75
Striatum1.91 ± 0.52
Subthalamus1.88 ± 0.64
Temporal Lobe1.6 ± 0.67
Thalamus1.68 ± 0.58
White Matter2.17 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
H2-AaCBCerebellum1.77
3.6
H2-AaCTXCerebral cortex3.04
3.11
H2-AaHIPHippocampal region2.73
3.09
H2-AaHPFHippocampal formation2.73
3.05
H2-AaHYHypothalamus2.44
2.95
H2-AaLSXLateral septal complex1.33
1.1
H2-AaMBMidbrain2.16
4.68
H2-AaMYMedulla3.61
6.67
H2-AaOLFOlfactory bulb6.84
6.87
H2-AaPPons5.06
8.17
H2-AaPALPallidum2.27
2.19
H2-AaRHPRetrohippocampal region2.68
3.02
H2-AasAMYStriatum-like amygdalar nuclei2.08
2.36
H2-AaSTRStriatum1.74
1.61
H2-AaSTRdStriatum dorsal region0.71
0.69
H2-AaSTRvStriatum ventral region5.13
4.21
H2-AaTHThalamus2.05
2.11
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004056 17 174 190 ISYLTFLPSADEIYDCK 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