AutismKB 2.0

Annotation Detail for HLA-A


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Basic Information Top
Gene Symbol:HLA-A ( FLJ26655,HLAA )
Gene Full Name: major histocompatibility complex, class I, A
Band: 6p22.1
Quick LinksEntrez ID:3105; OMIM: 142800; Uniprot ID:1A03_HUMAN; ENSEMBL ID: ENSG00000206503; HGNC ID: 4931
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 body16 / 70761226
blastocyst26 / 62319417
fetus91 / 564012161
neonate18 / 31097578
infant3 / 23620127
juvenile31 / 55556557
adult1268 / 1939121653
embryoid body0 / 707610 
blastocyst2 / 6231932
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult53 / 193912127
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor26 / 127942032
bladder carcinoma13 / 17475743
breast (mammary gland) tumor44 / 94178467
cervical tumor72 / 343662095
chondrosarcoma47 / 82823567
colorectal tumor172 / 1142461505
esophageal tumor36 / 172902082
gastrointestinal tumor87 / 119369728
germ cell tumor33 / 263845125
glioma90 / 106883842
head and neck tumor91 / 136302667
kidney tumor93 / 689591348
leukemia42 / 95842438
liver tumor115 / 963591193
lung tumor164 / 1031271590
lymphoma81 / 717551128
non-neoplasia86 / 97250884
normal2449 / 3360307728
ovarian tumor49 / 76682639
pancreatic tumor139 / 1046161328
primitive neuroectodermal tumor of the CNS46 / 125680366
prostate cancer40 / 102680389
retinoblastoma3 / 4635664
skin tumor84 / 124949672
soft tissue/muscle tissue tumor19 / 125191151
uterine tumor122 / 902571351
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor15 / 136302110
kidney tumor4 / 6895958
leukemia3 / 9584231
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal41 / 336030712
ovarian tumor1 / 7668213
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue28 / 131062136
adrenal gland38 / 331971144
ascites25 / 40015624
bladder20 / 29757672
blood136 / 1234781101
bone20 / 71655279
bone marrow17 / 48801348
brain406 / 1100989368
cervix84 / 481711743
connective tissue70 / 149255468
ear0 / 162120 
embryonic tissue58 / 215722268
esophagus38 / 202091880
eye56 / 211054265
heart39 / 89626435
intestine446 / 2344721902
kidney225 / 2117771062
larynx9 / 24145372
liver151 / 207743726
lung320 / 336974949
lymph32 / 44270722
lymph node50 / 91610545
mammary gland78 / 153271508
mouth22 / 67052328
muscle20 / 107715185
nerve14 / 15768887
ovary58 / 102051568
pancreas205 / 214812954
parathyroid10 / 20539486
pharynx13 / 41328314
pituitary gland21 / 165851266
placenta115 / 280825409
prostate74 / 189345390
salivary gland23 / 201551141
skin127 / 210574603
spleen165 / 539523058
stomach128 / 966191324
testis50 / 330442151
thymus96 / 811311183
thyroid63 / 474731327
tonsil23 / 169991353
trachea11 / 52413209
umbilical cord5 / 13680365
uterus187 / 232878802
vascular27 / 51780521
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites0 / 400150 
bladder2 / 2975767
blood4 / 12347832
bone1 / 7165513
bone marrow0 / 488010 
brain1 / 11009890 
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine9 / 23447238
kidney6 / 21177728
larynx2 / 2414582
liver6 / 20774328
lung7 / 33697420
lymph2 / 4427045
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx7 / 41328169
pituitary gland0 / 165850 
placenta1 / 2808253
prostate3 / 18934515
salivary gland0 / 201550 
skin3 / 21057414
spleen2 / 5395237
stomach2 / 9661920
testis0 / 3304420 
thymus0 / 811310 
thyroid7 / 47473147
tonsil3 / 16999176
trachea0 / 524130 
umbilical cord0 / 136800 
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213932_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts6004.3
Adipocyte613.15
AdrenalCortex1470.2
Adrenalgland2796.15
Amygdala630
Appendix1645.55
AtrioventricularNode345.35
BDCA4+_DentriticCells4785.65
Bonemarrow3505.55
BronchialEpithelialCells854.6
CD105+_Endothelial1455.4
CD14+_Monocytes7058.4
CD19+_BCells(neg._sel.)4537.25
CD33+_Myeloid7215.5
CD34+3712.05
CD4+_Tcells7218.7
CD56+_NKCells8586.45
CD71+_EarlyErythroid1951.3
CD8+_Tcells6252.65
CardiacMyocytes644.3
Caudatenucleus462.75
Cerebellum650.75
CerebellumPeduncles590.5
CiliaryGanglion564.6
CingulateCortex370.1
Colorectaladenocarcinoma1067.7
DorsalRootGanglion570.25
FetalThyroid1768.7
Fetalbrain272.35
Fetalliver437.3
Fetallung1750.85
GlobusPallidus193.1
Heart3019.35
Hypothalamus1176.75
Kidney1204.4
Leukemia_chronicMyelogenousK-562158.05
Leukemia_promyelocytic-HL-601889.65
Leukemialymphoblastic(MOLT-4)584.5
Liver2174.4
Lung4912.25
Lymphnode4321.8
Lymphoma_burkitts(Daudi)3267.7
Lymphoma_burkitts(Raji)4526.05
MedullaOblongata295.3
OccipitalLobe500.2
OlfactoryBulb1611.45
Ovary644.05
Pancreas1457.95
PancreaticIslet3492.35
ParietalLobe271.5
Pituitary2252.1
Placenta1785.25
Pons290.1
PrefrontalCortex881.55
Prostate3374.55
Salivarygland2475.55
SkeletalMuscle248.4
Skin1284.05
SmoothMuscle1677.15
Spinalcord1637.05
SubthalamicNucleus285.55
SuperiorCervicalGanglion599.7
TemporalLobe349.5
Testis941.7
TestisGermCell1111.7
TestisIntersitial575.05
TestisLeydigCell653.85
TestisSeminiferousTubule766.4
Thalamus651.95
Thymus3186.05
Thyroid3236.7
Tongue1070.9
Tonsil3228.6
Trachea2506.15
TrigeminalGanglion967.85
Uterus1752.35
UterusCorpus1175.65
WholeBlood7852
Wholebrain557.15
colon3973.4
pineal_day3150.04
pineal_night4304.7
retina2316.075
small_intestine3090.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P7602
  • 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
Amygdala5.25 ± 0.48
Basal Forebrain5.22 ± 0.09
Basal Part of Pons5.38 ± 0.22
Cerebellar Cortex5.57 ± 0.32
Cerebellar Nuclei5.44 ± 0.53
Claustrum5.16 ± 0.61
Epithalamus5.03 ± 0.48
Frontal Lobe5.08 ± 0.43
Globus Pallidus5.64 ± 0.5
Hypothalamus4.89 ± 0.46
Insula5.26 ± 0.38
Limbic Lobe5.43 ± 0.56
Mesencephalon5.34 ± 0.54
Myelencephalon5.31 ± 0.5
Occipital Lobe5.62 ± 0.45
Parietal Lobe5.29 ± 0.5
Pontine Tegmentum5.23 ± 0.51
Striatum5.94 ± 0.55
Subthalamus5.84 ± 0.44
Temporal Lobe5.12 ± 0.38
Thalamus5.36 ± 0.36
White Matter5.06 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
H2-Q10CBCerebellum25.72
74.65
H2-Q10CTXCerebral cortex42.65
31.91
H2-Q10HIPHippocampal region19.22
21.14
H2-Q10HPFHippocampal formation24.25
23.59
H2-Q10HYHypothalamus22.38
18.86
H2-Q10LSXLateral septal complex10.62
7.72
H2-Q10MBMidbrain22.66
21.31
H2-Q10MYMedulla54.64
67.46
H2-Q10OLFOlfactory bulb40.64
34.28
H2-Q10PPons48.73
56.09
H2-Q10PALPallidum29.6
26.4
H2-Q10RHPRetrohippocampal region37.07
29.75
H2-Q10sAMYStriatum-like amygdalar nuclei48.79
34.46
H2-Q10STRStriatum29.63
21.88
H2-Q10STRdStriatum dorsal region31.83
23.68
H2-Q10STRvStriatum ventral region26.9
19.73
H2-Q10THThalamus24.92
20.24
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
1A03_HUMAN_139 17 139 155 QDAYDGKDYIALNEDLR PRIDE
PAp00001595 24 244 267 DGEDQTQDTELVETRPAGDGTFQK 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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