AutismKB 2.0

Annotation Detail for HMGA2


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Basic Information Top
Gene Symbol:HMGA2 ( BABL,HMGI-C,HMGIC,LIPO,STQTL9 )
Gene Full Name: high mobility group AT-hook 2
Band: 12q14.3
Quick LinksEntrez ID:8091; OMIM: 600698; Uniprot ID:HMGA2_HUMAN; ENSEMBL ID: ENSG00000149948; HGNC ID: 5009
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 body45 / 70761635
blastocyst9 / 62319144
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult61 / 193912131
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma10 / 82823120
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor37 / 263845140
glioma0 / 1068830 
head and neck tumor5 / 13630236
kidney tumor7 / 68959101
leukemia0 / 958420 
liver tumor13 / 96359134
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal119 / 336030735
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma15 / 46356323
skin tumor8 / 12494964
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites5 / 40015124
bladder0 / 297570 
blood0 / 1234780 
bone6 / 7165583
bone marrow0 / 488010 
brain0 / 11009890 
cervix1 / 4817120
connective tissue9 / 14925560
ear2 / 16212123
embryonic tissue81 / 215722375
esophagus0 / 202090 
eye15 / 21105471
heart1 / 8962611
intestine7 / 23447229
kidney10 / 21177747
larynx0 / 241450 
liver14 / 20774367
lung8 / 33697423
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary5 / 10205148
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate1 / 1893455
salivary gland0 / 201550 
skin19 / 21057490
spleen0 / 539520 
stomach1 / 9661910
testis30 / 33044290
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208025_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.95
Adipocyte4.1
AdrenalCortex4.55
Adrenalgland3.7
Amygdala4.35
Appendix4.65
AtrioventricularNode3.55
BDCA4+_DentriticCells4.35
Bonemarrow4.1
BronchialEpithelialCells114.7
CD105+_Endothelial4.6
CD14+_Monocytes4.4
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid5.1
CD34+10.45
CD4+_Tcells4.4
CD56+_NKCells4.8
CD71+_EarlyErythroid3.9
CD8+_Tcells3.9
CardiacMyocytes9.5
Caudatenucleus3.7
Cerebellum3.4
CerebellumPeduncles4.8
CiliaryGanglion3.1
CingulateCortex4.25
Colorectaladenocarcinoma22.4
DorsalRootGanglion3.25
FetalThyroid4.1
Fetalbrain4.15
Fetalliver8.1
Fetallung3.45
GlobusPallidus3.3
Heart6.05
Hypothalamus4.45
Kidney3.4
Leukemia_chronicMyelogenousK-5623.75
Leukemia_promyelocytic-HL-603.65
Leukemialymphoblastic(MOLT-4)3.35
Liver5.5
Lung4.6
Lymphnode3.6
Lymphoma_burkitts(Daudi)5.5
Lymphoma_burkitts(Raji)5.8
MedullaOblongata3.8
OccipitalLobe3.7
OlfactoryBulb3.3
Ovary2.85
Pancreas3.45
PancreaticIslet4.45
ParietalLobe4.35
Pituitary4.85
Placenta4.2
Pons4
PrefrontalCortex5.2
Prostate4.8
Salivarygland3.4
SkeletalMuscle5.2
Skin3.35
SmoothMuscle15.5
Spinalcord4.4
SubthalamicNucleus4.1
SuperiorCervicalGanglion4.9
TemporalLobe3.8
Testis3.6
TestisGermCell3.5
TestisIntersitial3.55
TestisLeydigCell4.15
TestisSeminiferousTubule3.6
Thalamus4.2
Thymus3.2
Thyroid5.2
Tongue4.1
Tonsil4.05
Trachea3.5
TrigeminalGanglion4.3
Uterus3.4
UterusCorpus3.75
WholeBlood4.55
Wholebrain3.4
colon4.25
pineal_day5.16
pineal_night5.3
retina5.05
small_intestine4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P85099
  • 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
Amygdala2.45 ± 1.08
Basal Forebrain1.79 ± 0.23
Basal Part of Pons1.59 ± 0.62
Cerebellar Cortex1.9 ± 1
Cerebellar Nuclei2.18 ± 0.8
Claustrum2.85 ± 0.96
Epithalamus1.59 ± 0.69
Frontal Lobe1.81 ± 0.81
Globus Pallidus2.34 ± 0.33
Hypothalamus1.92 ± 0.76
Insula1.71 ± 0.72
Limbic Lobe1.87 ± 0.78
Mesencephalon2.06 ± 0.77
Myelencephalon1.95 ± 0.83
Occipital Lobe2.07 ± 0.82
Parietal Lobe2 ± 0.92
Pontine Tegmentum1.98 ± 0.73
Striatum1.93 ± 0.61
Subthalamus2 ± 0.79
Temporal Lobe1.77 ± 0.77
Thalamus1.9 ± 0.7
White Matter2.12 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hmga2CBCerebellum27.83
40.55
Hmga2CTXCerebral cortex11.92
9.78
Hmga2HIPHippocampal region6.08
7.96
Hmga2HPFHippocampal formation5.28
5.87
Hmga2HYHypothalamus17.12
14.09
Hmga2LSXLateral septal complex1.74
2.64
Hmga2MBMidbrain15.17
13.71
Hmga2MYMedulla16.21
16.24
Hmga2OLFOlfactory bulb34.94
38.91
Hmga2PPons16.68
14.61
Hmga2PALPallidum16.61
13.89
Hmga2RHPRetrohippocampal region3.77
2.88
Hmga2sAMYStriatum-like amygdalar nuclei2.1
1.29
Hmga2STRStriatum12.22
10.81
Hmga2STRdStriatum dorsal region9.44
8.33
Hmga2STRvStriatum ventral region34.32
28.62
Hmga2THThalamus13.75
12.23
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00131621 22 5 26 GEGAGQPSTSAQGQPAAPAPQK 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