AutismKB 2.0

Annotation Detail for HMGA1


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Basic Information Top
Gene Symbol:HMGA1 ( HMG-R,HMGA1A,HMGIY,MGC12816,MGC4242,MGC4854 )
Gene Full Name: high mobility group AT-hook 1
Band: 6p21.31
Quick LinksEntrez ID:3159; OMIM: 600701; Uniprot ID:HMGA1_HUMAN; ENSEMBL ID: ENSG00000137309; HGNC ID: 5010
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 body25 / 70761353
blastocyst92 / 623191476
fetus73 / 564012129
neonate19 / 31097610
infant47 / 236201989
juvenile56 / 555561007
adult426 / 1939121219
embryoid body19 / 70761268
blastocyst19 / 62319304
fetus23 / 56401240
neonate1 / 3109732
infant0 / 236200 
juvenile9 / 55556161
adult130 / 193912167
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) tumor31 / 94178329
cervical tumor15 / 34366436
chondrosarcoma22 / 82823265
colorectal tumor57 / 114246498
esophageal tumor18 / 172901041
gastrointestinal tumor115 / 119369963
germ cell tumor436 / 2638451652
glioma42 / 106883392
head and neck tumor3 / 13630222
kidney tumor7 / 68959101
leukemia26 / 95842271
liver tumor66 / 96359684
lung tumor147 / 1031271425
lymphoma149 / 717552076
non-neoplasia19 / 97250195
normal691 / 3360307205
ovarian tumor24 / 76682312
pancreatic tumor133 / 1046161271
primitive neuroectodermal tumor of the CNS177 / 1256801408
prostate cancer36 / 102680350
retinoblastoma90 / 463561941
skin tumor164 / 1249491312
soft tissue/muscle tissue tumor37 / 125191295
uterine tumor20 / 90257221
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor11 / 94178116
cervical tumor12 / 34366349
chondrosarcoma0 / 828230 
colorectal tumor15 / 114246131
esophageal tumor0 / 172900 
gastrointestinal tumor30 / 119369251
germ cell tumor68 / 263845257
glioma7 / 10688365
head and neck tumor5 / 13630236
kidney tumor0 / 689590 
leukemia5 / 9584252
liver tumor17 / 96359176
lung tumor37 / 103127358
lymphoma22 / 71755306
non-neoplasia0 / 972500 
normal153 / 336030745
ovarian tumor12 / 76682156
pancreatic tumor44 / 104616420
primitive neuroectodermal tumor of the CNS18 / 125680143
prostate cancer8 / 10268077
retinoblastoma16 / 46356345
skin tumor48 / 124949384
soft tissue/muscle tissue tumor5 / 12519139
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 
ascites51 / 400151274
bladder4 / 29757134
blood33 / 123478267
bone28 / 71655390
bone marrow11 / 48801225
brain262 / 1100989237
cervix18 / 48171373
connective tissue37 / 149255247
ear0 / 162120 
embryonic tissue179 / 215722829
esophagus19 / 20209940
eye154 / 211054729
heart15 / 89626167
intestine119 / 234472507
kidney26 / 211777122
larynx2 / 2414582
liver80 / 207743385
lung176 / 336974522
lymph133 / 442703004
lymph node49 / 91610534
mammary gland37 / 153271241
mouth1 / 6705214
muscle29 / 107715269
nerve0 / 157680 
ovary97 / 102051950
pancreas136 / 214812633
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta228 / 280825811
prostate49 / 189345258
salivary gland1 / 2015549
skin192 / 210574911
spleen10 / 53952185
stomach24 / 96619248
testis169 / 330442511
thymus90 / 811311109
thyroid0 / 474730 
tonsil14 / 16999823
trachea5 / 5241395
umbilical cord5 / 13680365
uterus26 / 232878111
vascular25 / 51780482
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites14 / 40015349
bladder0 / 297570 
blood7 / 12347856
bone9 / 71655125
bone marrow2 / 4880140
brain19 / 110098917
cervix16 / 48171332
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue65 / 215722301
esophagus0 / 202090 
eye25 / 211054118
heart2 / 8962622
intestine22 / 23447293
kidney0 / 2117770 
larynx0 / 241450 
liver27 / 207743129
lung39 / 336974115
lymph12 / 44270271
lymph node5 / 9161054
mammary gland13 / 15327184
mouth4 / 6705259
muscle10 / 10771592
nerve1 / 1576863
ovary18 / 102051176
pancreas46 / 214812214
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta60 / 280825213
prostate11 / 18934558
salivary gland4 / 20155198
skin48 / 210574227
spleen0 / 539520 
stomach12 / 96619124
testis10 / 33044230
thymus1 / 8113112
thyroid1 / 4747321
tonsil6 / 16999352
trachea0 / 524130 
umbilical cord1 / 1368073
uterus3 / 23287812
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206074_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts2675.9
Adipocyte67.25
AdrenalCortex36.95
Adrenalgland30.4
Amygdala34.5
Appendix29.9
AtrioventricularNode29.15
BDCA4+_DentriticCells192.6
Bonemarrow116.7
BronchialEpithelialCells843.75
CD105+_Endothelial897.95
CD14+_Monocytes74.6
CD19+_BCells(neg._sel.)254.9
CD33+_Myeloid99.9
CD34+684.55
CD4+_Tcells76.5
CD56+_NKCells73.8
CD71+_EarlyErythroid426.15
CD8+_Tcells48.25
CardiacMyocytes402.45
Caudatenucleus40.25
Cerebellum38.3
CerebellumPeduncles51.85
CiliaryGanglion24.85
CingulateCortex43.85
Colorectaladenocarcinoma4065.5
DorsalRootGanglion26.55
FetalThyroid44.45
Fetalbrain45.6
Fetalliver176.95
Fetallung142.15
GlobusPallidus31.9
Heart58.3
Hypothalamus44.25
Kidney33.5
Leukemia_chronicMyelogenousK-5621309.95
Leukemia_promyelocytic-HL-601325.3
Leukemialymphoblastic(MOLT-4)749.05
Liver34.45
Lung44.6
Lymphnode58.65
Lymphoma_burkitts(Daudi)790.35
Lymphoma_burkitts(Raji)2476
MedullaOblongata40.8
OccipitalLobe39.3
OlfactoryBulb31.9
Ovary21.5
Pancreas62.75
PancreaticIslet57.15
ParietalLobe46.95
Pituitary52.35
Placenta126.7
Pons29.9
PrefrontalCortex58.5
Prostate36.35
Salivarygland32.45
SkeletalMuscle49.2
Skin38.25
SmoothMuscle503.3
Spinalcord36.9
SubthalamicNucleus39
SuperiorCervicalGanglion47
TemporalLobe40.85
Testis134.35
TestisGermCell165.5
TestisIntersitial58.05
TestisLeydigCell45.8
TestisSeminiferousTubule116.5
Thalamus46.2
Thymus298.9
Thyroid59.6
Tongue66.2
Tonsil158.5
Trachea52.85
TrigeminalGanglion39.05
Uterus9.35
UterusCorpus85.9
WholeBlood64.2
Wholebrain37.8
colon93.95
pineal_day58.76
pineal_night55.08
retina61.15
small_intestine157.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P222043
  • 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
Amygdala7.3 ± 0.36
Basal Forebrain7.13 ± 0.33
Basal Part of Pons6.97 ± 0.45
Cerebellar Cortex6.66 ± 0.46
Cerebellar Nuclei6.37 ± 0.51
Claustrum7.38 ± 0.54
Epithalamus6.25 ± 0.47
Frontal Lobe6.75 ± 0.43
Globus Pallidus6.57 ± 0.34
Hypothalamus6.46 ± 0.59
Insula6.79 ± 0.34
Limbic Lobe7.11 ± 0.44
Mesencephalon6.91 ± 0.54
Myelencephalon6.87 ± 0.46
Occipital Lobe7.21 ± 0.57
Parietal Lobe6.9 ± 0.4
Pontine Tegmentum6.78 ± 0.45
Striatum7.3 ± 0.45
Subthalamus6.49 ± 0.07
Temporal Lobe6.83 ± 0.39
Thalamus6.84 ± 0.33
White Matter5.7 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hmga1CBCerebellum63.48
80.99
Hmga1CTXCerebral cortex100
100
Hmga1HIPHippocampal region76.22
100
Hmga1HPFHippocampal formation99.32
100
Hmga1HYHypothalamus100
93.71
Hmga1LSXLateral septal complex100
93.94
Hmga1MBMidbrain100
91.98
Hmga1MYMedulla100
100
Hmga1OLFOlfactory bulb100
100
Hmga1PPons100
100
Hmga1PALPallidum100
90.11
Hmga1RHPRetrohippocampal region100
100
Hmga1sAMYStriatum-like amygdalar nuclei100
83.45
Hmga1STRStriatum100
61.18
Hmga1STRdStriatum dorsal region84.07
50.84
Hmga1STRvStriatum ventral region100
73.32
Hmga1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HMGA1_HUMAN_1 23 1 23 SESSSKSSQPLASKQEKDGTEKR PRIDE
HMGA1_HUMAN_2 23 2 24 SESSSKSSQPLASKQEKDGTEKR PRIDE
HMGA1_HUMAN_30 16 30 45 KQPPVSPGTALVGSQK PRIDE
HMGA1_HUMAN_30 25 30 54 KQPPVSPGTALVGSQKEPSEVPTPK PRIDE
HMGA1_HUMAN_88 19 88 106 KLEKEEEEGISQESSEEEQ PRIDE
PAp00035328 19 78 96 KLEKEEEEGISQESSEEEQ 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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