AutismKB 2.0

Annotation Detail for HMHA1


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Basic Information Top
Gene Symbol:HMHA1 ( HA-1,HLA-HA1,KIAA0223 )
Gene Full Name: histocompatibility (minor) HA-1
Band: 19p13.3
Quick LinksEntrez ID:23526; OMIM: 601155; Uniprot ID:HMHA1_HUMAN; ENSEMBL ID: ENSG00000180448; HGNC ID:
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 body3 / 7076142
blastocyst5 / 6231980
fetus0 / 5640120 
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult138 / 193912171
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor10 / 26384537
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia11 / 95842114
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma28 / 71755390
non-neoplasia7 / 9725071
normal157 / 336030746
ovarian tumor3 / 7668239
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor20 / 124949160
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood22 / 123478178
bone4 / 7165555
bone marrow1 / 4880120
brain16 / 110098914
cervix5 / 48171103
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine5 / 23447221
kidney5 / 21177723
larynx0 / 241450 
liver6 / 20774328
lung12 / 33697435
lymph19 / 44270429
lymph node10 / 91610109
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta17 / 28082560
prostate5 / 18934526
salivary gland0 / 201550 
skin20 / 21057494
spleen9 / 53952166
stomach3 / 9661931
testis8 / 33044224
thymus45 / 81131554
thyroid1 / 4747321
tonsil7 / 16999411
trachea4 / 5241376
umbilical cord0 / 136800 
uterus17 / 23287872
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212873_at
Cell line Expression level Expression bar
721_B_lymphoblasts174.35
Adipocyte4
AdrenalCortex4.25
Adrenalgland3.45
Amygdala4.15
Appendix4
AtrioventricularNode3.1
BDCA4+_DentriticCells635.35
Bonemarrow53.5
BronchialEpithelialCells3.95
CD105+_Endothelial31.7
CD14+_Monocytes840.25
CD19+_BCells(neg._sel.)846.7
CD33+_Myeloid950.05
CD34+158.55
CD4+_Tcells1759.4
CD56+_NKCells1011.9
CD71+_EarlyErythroid7.65
CD8+_Tcells2079.35
CardiacMyocytes5.1
Caudatenucleus3.7
Cerebellum3.25
CerebellumPeduncles4.55
CiliaryGanglion2.8
CingulateCortex4.15
Colorectaladenocarcinoma12.9
DorsalRootGanglion3.1
FetalThyroid3.95
Fetalbrain4.2
Fetalliver3.5
Fetallung3.75
GlobusPallidus3
Heart40.15
Hypothalamus4.55
Kidney3.3
Leukemia_chronicMyelogenousK-5626.4
Leukemia_promyelocytic-HL-6025.55
Leukemialymphoblastic(MOLT-4)30.6
Liver16.65
Lung94.85
Lymphnode281.9
Lymphoma_burkitts(Daudi)88.05
Lymphoma_burkitts(Raji)303.25
MedullaOblongata3.55
OccipitalLobe3.55
OlfactoryBulb6.15
Ovary2.7
Pancreas4.2
PancreaticIslet4.35
ParietalLobe4.2
Pituitary4.75
Placenta9.55
Pons3.85
PrefrontalCortex5
Prostate7.45
Salivarygland5.15
SkeletalMuscle4.75
Skin3.05
SmoothMuscle4.55
Spinalcord6.85
SubthalamicNucleus3.7
SuperiorCervicalGanglion4.5
TemporalLobe3.65
Testis3.65
TestisGermCell3.15
TestisIntersitial3.3
TestisLeydigCell3.95
TestisSeminiferousTubule3.5
Thalamus4.1
Thymus345.2
Thyroid5.35
Tongue3.95
Tonsil124.95
Trachea3.45
TrigeminalGanglion4
Uterus3.45
UterusCorpus3.6
WholeBlood726.9
Wholebrain3.35
colon4.1
pineal_day89.16
pineal_night143.12
retina5.325
small_intestine4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1331_PI416573500
  • 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
Amygdala5.62 ± 0.67
Basal Forebrain5.41 ± 0.24
Basal Part of Pons5.31 ± 0.25
Cerebellar Cortex5.34 ± 0.4
Cerebellar Nuclei5.4 ± 0.58
Claustrum5.7 ± 0.54
Epithalamus5.2 ± 0.49
Frontal Lobe5.27 ± 0.41
Globus Pallidus5.62 ± 0.64
Hypothalamus5.34 ± 0.31
Insula5.24 ± 0.34
Limbic Lobe5.4 ± 0.4
Mesencephalon5.33 ± 0.41
Myelencephalon5.38 ± 0.45
Occipital Lobe5.51 ± 0.44
Parietal Lobe5.36 ± 0.45
Pontine Tegmentum5.31 ± 0.41
Striatum5.42 ± 0.41
Subthalamus5.3 ± 0.12
Temporal Lobe5.27 ± 0.45
Thalamus5.38 ± 0.39
White Matter5.96 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hmha1STRdStriatum dorsal region2.97
1.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011549 30 577 606 SSFNVSDVARPEAAGSPPEEGGCTEGTPAK 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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