AutismKB 2.0

Annotation Detail for HBA2


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Basic Information Top
Gene Symbol:HBA2 ( - )
Gene Full Name: hemoglobin, alpha 2
Band: 16p13.3
Quick LinksEntrez ID:3040; OMIM: 141850; Uniprot ID:HBA_HUMAN; ENSEMBL ID: ENSG00000188536; HGNC ID: 4824
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 
fetus2191 / 5640123884
neonate5 / 31097160
infant1 / 2362042
juvenile4 / 5555671
adult1363 / 1939121702
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma20 / 82823241
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma8 / 10688374
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia148 / 958421544
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia11 / 97250113
normal3547 / 33603071055
ovarian tumor0 / 766820 
pancreatic tumor46 / 104616439
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue7 / 13106534
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood198 / 1234781603
bone22 / 71655307
bone marrow134 / 488012745
brain124 / 1100989112
cervix3 / 4817162
connective tissue22 / 149255147
ear1 / 1621261
embryonic tissue71 / 215722329
esophagus0 / 202090 
eye23 / 211054108
heart57 / 89626635
intestine10 / 23447242
kidney4 / 21177718
larynx0 / 241450 
liver174 / 207743837
lung60 / 336974178
lymph0 / 442700 
lymph node4 / 9161043
mammary gland39 / 153271254
mouth0 / 670520 
muscle71 / 107715659
nerve1 / 1576863
ovary4 / 10205139
pancreas131 / 214812609
parathyroid0 / 205390 
pharynx91 / 413282201
pituitary gland4 / 16585241
placenta789 / 2808252809
prostate2 / 18934510
salivary gland0 / 201550 
skin41 / 210574194
spleen498 / 539529230
stomach0 / 966190 
testis7 / 33044221
thymus27 / 81131332
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord5 / 13680365
uterus4 / 23287817
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211745_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts17.7
Adipocyte11.7
AdrenalCortex1512.9
Adrenalgland3241.95
Amygdala2368.65
Appendix33157.7
AtrioventricularNode13152.8
BDCA4+_DentriticCells7.05
Bonemarrow35056.35
BronchialEpithelialCells14.7
CD105+_Endothelial28391.8
CD14+_Monocytes38.3
CD19+_BCells(neg._sel.)16.05
CD33+_Myeloid242.65
CD34+1204.95
CD4+_Tcells144.35
CD56+_NKCells118.3
CD71+_EarlyErythroid37643.1
CD8+_Tcells464.4
CardiacMyocytes8.1
Caudatenucleus718.2
Cerebellum1417.05
CerebellumPeduncles2322.5
CiliaryGanglion3846.4
CingulateCortex1341.8
Colorectaladenocarcinoma13.4
DorsalRootGanglion8079.3
FetalThyroid22649.3
Fetalbrain8765.95
Fetalliver28577.1
Fetallung34705.05
GlobusPallidus1034.1
Heart21930.15
Hypothalamus1699.25
Kidney7606.25
Leukemia_chronicMyelogenousK-5622775.35
Leukemia_promyelocytic-HL-608.65
Leukemialymphoblastic(MOLT-4)10.25
Liver6093.6
Lung27278.7
Lymphnode2198.25
Lymphoma_burkitts(Daudi)19.05
Lymphoma_burkitts(Raji)16.5
MedullaOblongata1737.75
OccipitalLobe1512
OlfactoryBulb2861.55
Ovary7292.8
Pancreas510.8
PancreaticIslet613.9
ParietalLobe835.6
Pituitary5169.45
Placenta20605.85
Pons7797.95
PrefrontalCortex3879.3
Prostate11311.4
Salivarygland684.2
SkeletalMuscle13286.15
Skin8769.15
SmoothMuscle16.2
Spinalcord7861.6
SubthalamicNucleus2575.1
SuperiorCervicalGanglion3290.45
TemporalLobe6706.55
Testis613.3
TestisGermCell3718.9
TestisIntersitial14375.65
TestisLeydigCell7128.75
TestisSeminiferousTubule3562.55
Thalamus1918.5
Thymus4045.5
Thyroid8380.2
Tongue1113.5
Tonsil52
Trachea2505.9
TrigeminalGanglion10022.9
Uterus2388.5
UterusCorpus419
WholeBlood10841.85
Wholebrain2806.7
colon678.05
pineal_day635.86
pineal_night391.76
retina9898.4
small_intestine943.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P26457
  • 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
Amygdala11.56 ± 0.37
Basal Forebrain11.82 ± 0.57
Basal Part of Pons11.35 ± 0.52
Cerebellar Cortex11.01 ± 0.53
Cerebellar Nuclei12.26 ± 0.53
Claustrum11.71 ± 0.45
Epithalamus11.32 ± 0.55
Frontal Lobe11.49 ± 0.66
Globus Pallidus12.59 ± 0.73
Hypothalamus11.73 ± 0.79
Insula11.37 ± 0.57
Limbic Lobe11.15 ± 0.66
Mesencephalon11.55 ± 0.59
Myelencephalon11.45 ± 0.65
Occipital Lobe11.11 ± 0.67
Parietal Lobe11.23 ± 0.59
Pontine Tegmentum11.82 ± 0.58
Striatum12.36 ± 0.64
Subthalamus11.78 ± 0.37
Temporal Lobe11.18 ± 0.51
Thalamus11.61 ± 0.47
White Matter11.9 ± 0.65
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HBA_HUMAN_101 40 101 140 LLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSK PRIDE
HBA_HUMAN_128 12 128 139 FLASVSTVLTSK PRIDE
HBA_HUMAN_129 12 129 140 FLASVSTVLTSK PRIDE
HBA_HUMAN_17 15 17 31 VGAHAGEYGAEALER PRIDE
HBA_HUMAN_18 15 18 32 VGAHAGEYGAEALER PRIDE
HBA_HUMAN_2 11 2 12 VLSPADKTNVK PRIDE
HBA_HUMAN_2 7 2 8 VLSPADK PRIDE
HBA_HUMAN_32 9 32 40 MFLSFPTTK PRIDE
HBA_HUMAN_33 9 33 41 MFLSFPTTK PRIDE
HBA_HUMAN_41 16 41 56 TYFPHFDLSHGSAQVK PRIDE
HBA_HUMAN_42 16 42 57 TYFPHFDLSHGSAQVK PRIDE
HBA_HUMAN_44 14 44 57 FPHFDLSHGSAQVK PRIDE
HBA_HUMAN_61 30 61 90 KVADALTNAVAHVDDMPNALSALSDLHAHK PRIDE
HBA_HUMAN_62 29 62 90 VADALTNAVAHVDDMPNALSALSDLHAHK PRIDE
HBA_HUMAN_62 30 62 91 KVADALTNAVAHVDDMPNALSALSDLHAHK PRIDE
HBA_HUMAN_63 29 63 91 VADALTNAVAHVDDMPNALSALSDLHAHK PRIDE
HBA_HUMAN_91 9 91 99 LRVDPVNFK PRIDE
HBA_HUMAN_92 9 92 100 LRVDPVNFK PRIDE
HBA_HUMAN_93 7 93 99 VDPVNFK PRIDE
HBA_HUMAN_94 7 94 100 VDPVNFK PRIDE
PAp00008068 16 42 57 TYFPHFDLSHGSAQVK 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