AutismKB 2.0

Annotation Detail for HIGD2A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HIGD2A ( MGC2198 )
Gene Full Name: HIG1 hypoxia inducible domain family, member 2A
Band: 5q35.2
Quick LinksEntrez ID:192286; OMIM: NA; Uniprot ID:HIG2A_HUMAN; ENSEMBL ID: ENSG00000146066; HGNC ID: 28311
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 body1 / 7076114
blastocyst2 / 6231932
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult55 / 193912128
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 tumor2 / 3436658
chondrosarcoma4 / 8282348
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma4 / 10688337
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma5 / 7175569
non-neoplasia0 / 972500 
normal80 / 336030723
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer9 / 10268087
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone2 / 7165527
bone marrow1 / 4880120
brain11 / 11009899
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye4 / 21105418
heart7 / 8962678
intestine10 / 23447242
kidney10 / 21177747
larynx0 / 241450 
liver1 / 2077434
lung13 / 33697438
lymph3 / 4427067
lymph node1 / 9161010
mammary gland4 / 15327126
mouth1 / 6705214
muscle7 / 10771564
nerve1 / 1576863
ovary1 / 1020519
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta1 / 2808253
prostate19 / 189345100
salivary gland1 / 2015549
skin4 / 21057418
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209329_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts793.85
Adipocyte373.9
AdrenalCortex157.15
Adrenalgland410.95
Amygdala189.25
Appendix111.3
AtrioventricularNode64.05
BDCA4+_DentriticCells852.25
Bonemarrow196.65
BronchialEpithelialCells353.35
CD105+_Endothelial439.4
CD14+_Monocytes1061.5
CD19+_BCells(neg._sel.)921.75
CD33+_Myeloid1171.8
CD34+647.05
CD4+_Tcells550.6
CD56+_NKCells823.9
CD71+_EarlyErythroid136.4
CD8+_Tcells484.6
CardiacMyocytes146.45
Caudatenucleus177.25
Cerebellum181
CerebellumPeduncles227.1
CiliaryGanglion49.15
CingulateCortex155.05
Colorectaladenocarcinoma288.4
DorsalRootGanglion45.95
FetalThyroid466.95
Fetalbrain126.25
Fetalliver144.15
Fetallung240.25
GlobusPallidus71.85
Heart1570
Hypothalamus177.9
Kidney242.1
Leukemia_chronicMyelogenousK-562454.5
Leukemia_promyelocytic-HL-60551.6
Leukemialymphoblastic(MOLT-4)228.35
Liver794.7
Lung744.75
Lymphnode280.95
Lymphoma_burkitts(Daudi)696.5
Lymphoma_burkitts(Raji)1520.2
MedullaOblongata161.7
OccipitalLobe139.4
OlfactoryBulb140.05
Ovary113.2
Pancreas169.55
PancreaticIslet191.25
ParietalLobe104.8
Pituitary286.8
Placenta168.9
Pons127.95
PrefrontalCortex248.95
Prostate515.45
Salivarygland280.85
SkeletalMuscle348.25
Skin104.7
SmoothMuscle360.65
Spinalcord240.5
SubthalamicNucleus123.4
SuperiorCervicalGanglion54.7
TemporalLobe162.65
Testis291.9
TestisGermCell221.9
TestisIntersitial122.2
TestisLeydigCell120.2
TestisSeminiferousTubule151.8
Thalamus180.25
Thymus437.7
Thyroid525.25
Tongue211
Tonsil268.1
Trachea202.1
TrigeminalGanglion33.35
Uterus271.25
UterusCorpus151.4
WholeBlood685.7
Wholebrain528.75
colon435.95
pineal_day220.12
pineal_night215.74
retina468.275
small_intestine286.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12361_PI416261804
  • 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
Amygdala7.31 ± 0.44
Basal Forebrain7.68 ± 0.18
Basal Part of Pons7.55 ± 0.51
Cerebellar Cortex7.68 ± 0.28
Cerebellar Nuclei7.44 ± 0.3
Claustrum7.03 ± 0.38
Epithalamus7.83 ± 0.32
Frontal Lobe7.64 ± 0.33
Globus Pallidus7.59 ± 0.22
Hypothalamus7.88 ± 0.44
Insula7.53 ± 0.29
Limbic Lobe7.37 ± 0.45
Mesencephalon7.53 ± 0.34
Myelencephalon7.49 ± 0.34
Occipital Lobe7.21 ± 0.34
Parietal Lobe7.51 ± 0.35
Pontine Tegmentum7.57 ± 0.37
Striatum7.54 ± 0.4
Subthalamus7.53 ± 0.56
Temporal Lobe7.53 ± 0.34
Thalamus7.52 ± 0.3
White Matter6.88 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Higd2aCBCerebellum18.04
34
Higd2aCTXCerebral cortex15.41
13.4
Higd2aHIPHippocampal region24.01
39.19
Higd2aHPFHippocampal formation22.52
30.83
Higd2aHYHypothalamus0.81
0.8
Higd2aLSXLateral septal complex0
0
Higd2aMBMidbrain5.04
7.82
Higd2aMYMedulla6.51
10.71
Higd2aOLFOlfactory bulb9.27
8.41
Higd2aPPons5.17
8.41
Higd2aPALPallidum0.33
0.33
Higd2aRHPRetrohippocampal region20.5
19.16
Higd2asAMYStriatum-like amygdalar nuclei1.08
0.89
Higd2aSTRStriatum0.68
0.62
Higd2aSTRdStriatum dorsal region0.63
0.62
Higd2aSTRvStriatum ventral region0.7
0.46
Higd2aTHThalamus5.29
7.7
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00036805 20 50 69 PIGCLATAAALTYGLYSFHR 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