AutismKB 2.0

Annotation Detail for HLA-B


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Basic Information Top
Gene Symbol:HLA-B ( AS,HLA-B27,HLA-B73,HLAB,MGC111087,SPDA1 )
Gene Full Name: major histocompatibility complex, class I, B
Band: 6p21.33
Quick LinksEntrez ID:3106; OMIM: 142830; Uniprot ID:1B07_HUMAN; ENSEMBL ID: ENSG00000234745; HGNC ID: 4932
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 body2 / 7076128
blastocyst1 / 6231916
fetus78 / 564012138
neonate52 / 310971672
infant1 / 2362042
juvenile22 / 55556395
adult2203 / 19391211136
embryoid body19 / 70761268
blastocyst20 / 62319320
fetus64 / 564012113
neonate61 / 310971961
infant3 / 23620127
juvenile33 / 55556593
adult1757 / 1939121906
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 tumor10 / 12794781
bladder carcinoma9 / 17475515
breast (mammary gland) tumor32 / 94178339
cervical tumor57 / 343661658
chondrosarcoma28 / 82823338
colorectal tumor186 / 1142461628
esophageal tumor19 / 172901098
gastrointestinal tumor181 / 1193691516
germ cell tumor30 / 263845113
glioma64 / 106883598
head and neck tumor167 / 1363021225
kidney tumor31 / 68959449
leukemia82 / 95842855
liver tumor89 / 96359923
lung tumor337 / 1031273267
lymphoma110 / 717551532
non-neoplasia238 / 972502447
normal2492 / 3360307741
ovarian tumor39 / 76682508
pancreatic tumor126 / 1046161204
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer20 / 102680194
retinoblastoma1 / 4635621
skin tumor53 / 124949424
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor286 / 902573168
adrenal tumor10 / 12794781
bladder carcinoma10 / 17475572
breast (mammary gland) tumor52 / 94178552
cervical tumor69 / 343662007
chondrosarcoma30 / 82823362
colorectal tumor140 / 1142461225
esophageal tumor6 / 17290347
gastrointestinal tumor125 / 1193691047
germ cell tumor50 / 263845189
glioma44 / 106883411
head and neck tumor128 / 136302939
kidney tumor28 / 68959406
leukemia57 / 95842594
liver tumor148 / 963591535
lung tumor122 / 1031271183
lymphoma66 / 71755919
non-neoplasia130 / 972501336
normal2283 / 3360307679
ovarian tumor70 / 76682912
pancreatic tumor126 / 1046161204
primitive neuroectodermal tumor of the CNS27 / 125680214
prostate cancer47 / 102680457
retinoblastoma0 / 463560 
skin tumor52 / 124949416
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor111 / 902571229
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 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal1 / 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 tissue25 / 131061907
adrenal gland27 / 33197813
ascites32 / 40015799
bladder13 / 29757436
blood205 / 1234781660
bone36 / 71655502
bone marrow30 / 48801614
brain269 / 1100989244
cervix62 / 481711287
connective tissue223 / 1492551494
ear3 / 16212185
embryonic tissue6 / 21572227
esophagus25 / 202091237
eye58 / 211054274
heart34 / 89626379
intestine544 / 2344722320
kidney47 / 211777221
larynx51 / 241452112
liver136 / 207743654
lung557 / 3369741652
lymph33 / 44270745
lymph node118 / 916101288
mammary gland62 / 153271404
mouth62 / 67052924
muscle22 / 107715204
nerve12 / 15768761
ovary67 / 102051656
pancreas230 / 2148121070
parathyroid5 / 20539243
pharynx29 / 41328701
pituitary gland14 / 16585844
placenta187 / 280825665
prostate53 / 189345279
salivary gland6 / 20155297
skin123 / 210574584
spleen216 / 539524003
stomach207 / 966192142
testis34 / 330442102
thymus50 / 81131616
thyroid58 / 474731221
tonsil26 / 169991529
trachea11 / 52413209
umbilical cord2 / 13680146
uterus359 / 2328781541
vascular21 / 51780405
adipose tissue21 / 131061602
adrenal gland24 / 33197722
ascites37 / 40015924
bladder16 / 29757537
blood169 / 1234781368
bone33 / 71655460
bone marrow28 / 48801573
brain380 / 1100989345
cervix77 / 481711598
connective tissue87 / 149255582
ear1 / 1621261
embryonic tissue56 / 215722259
esophagus14 / 20209692
eye70 / 211054331
heart61 / 89626680
intestine404 / 2344721723
kidney46 / 211777217
larynx43 / 241451780
liver175 / 207743842
lung314 / 336974931
lymph35 / 44270790
lymph node42 / 91610458
mammary gland67 / 153271437
mouth58 / 67052865
muscle27 / 107715250
nerve14 / 15768887
ovary88 / 102051862
pancreas182 / 214812847
parathyroid8 / 20539389
pharynx11 / 41328266
pituitary gland11 / 16585663
placenta153 / 280825544
prostate88 / 189345464
salivary gland11 / 20155545
skin99 / 210574470
spleen139 / 539522576
stomach144 / 966191490
testis66 / 330442199
thymus77 / 81131949
thyroid42 / 47473884
tonsil22 / 169991294
trachea8 / 52413152
umbilical cord2 / 13680146
uterus202 / 232878867
vascular23 / 51780444
adipose tissue0 / 131060 
adrenal gland0 / 331970 
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 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
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: 208729_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts7740.75
Adipocyte388.65
AdrenalCortex553.75
Adrenalgland1063.85
Amygdala343.2
Appendix1460
AtrioventricularNode130.3
BDCA4+_DentriticCells12085.65
Bonemarrow3622.25
BronchialEpithelialCells342.8
CD105+_Endothelial1609.4
CD14+_Monocytes13726.5
CD19+_BCells(neg._sel.)7109.7
CD33+_Myeloid16771.3
CD34+4383.3
CD4+_Tcells11054.5
CD56+_NKCells19003.05
CD71+_EarlyErythroid770.2
CD8+_Tcells12143.35
CardiacMyocytes558.75
Caudatenucleus233.95
Cerebellum224.05
CerebellumPeduncles360.05
CiliaryGanglion252.75
CingulateCortex109.4
Colorectaladenocarcinoma1091.65
DorsalRootGanglion518.25
FetalThyroid932.5
Fetalbrain79.85
Fetalliver128.45
Fetallung1852.05
GlobusPallidus67.7
Heart4075.85
Hypothalamus522.6
Kidney638.8
Leukemia_chronicMyelogenousK-56226.15
Leukemia_promyelocytic-HL-601603.1
Leukemialymphoblastic(MOLT-4)326.8
Liver1387.5
Lung10695.2
Lymphnode4311.4
Lymphoma_burkitts(Daudi)3258.35
Lymphoma_burkitts(Raji)6347.6
MedullaOblongata121.65
OccipitalLobe333.2
OlfactoryBulb844.55
Ovary676.5
Pancreas955
PancreaticIslet3086.55
ParietalLobe145.05
Pituitary943.1
Placenta1638.75
Pons180.4
PrefrontalCortex479.8
Prostate4237.65
Salivarygland1638.45
SkeletalMuscle188.2
Skin812.9
SmoothMuscle1055
Spinalcord742.15
SubthalamicNucleus83.05
SuperiorCervicalGanglion179.05
TemporalLobe175.05
Testis233
TestisGermCell569.3
TestisIntersitial200.25
TestisLeydigCell432.75
TestisSeminiferousTubule366.25
Thalamus335.8
Thymus2750
Thyroid3705.6
Tongue526.75
Tonsil4337.25
Trachea1867.7
TrigeminalGanglion364.25
Uterus1849.75
UterusCorpus768.05
WholeBlood15860.7
Wholebrain459.9
colon4961.7
pineal_day1860.02
pineal_night3431.9
retina2736.05
small_intestine2697.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P125107
  • 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
Amygdala7.13 ± 0.37
Basal Forebrain7.68 ± 0.17
Basal Part of Pons7.8 ± 0.42
Cerebellar Cortex7.48 ± 0.45
Cerebellar Nuclei8.05 ± 0.29
Claustrum6.94 ± 0.58
Epithalamus8.2 ± 0.5
Frontal Lobe7.7 ± 0.55
Globus Pallidus8.49 ± 0.31
Hypothalamus7.75 ± 0.74
Insula7.85 ± 0.3
Limbic Lobe7.46 ± 0.67
Mesencephalon7.74 ± 0.5
Myelencephalon7.82 ± 0.5
Occipital Lobe7.66 ± 0.58
Parietal Lobe7.37 ± 0.57
Pontine Tegmentum7.66 ± 0.61
Striatum8.16 ± 0.41
Subthalamus8 ± 0.41
Temporal Lobe7.65 ± 0.49
Thalamus7.92 ± 0.52
White Matter7.91 ± 1.03
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
1B07_HUMAN_0 0 0 0 DGEDQTQDTELVETRPAGDR PRIDE
PAp00000643 14 73 86 APWIEQEGPEYWDR 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