AutismKB 2.0

Annotation Detail for AKR1C3


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Basic Information Top
Gene Symbol:AKR1C3 ( DD3,DDX,HA1753,HAKRB,HAKRe,HSD17B5,KIAA0119,PGFS,hluPGFS )
Gene Full Name: aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)
Band: 10p15.1
Quick LinksEntrez ID:8644; OMIM: 603966; Uniprot ID:AK1C3_HUMAN; ENSEMBL ID: ENSG00000196139; HGNC ID: 386
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 
fetus40 / 56401270
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult237 / 1939121122
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma20 / 174751144
breast (mammary gland) tumor5 / 9417853
cervical tumor6 / 34366174
chondrosarcoma13 / 82823156
colorectal tumor16 / 114246140
esophageal tumor5 / 17290289
gastrointestinal tumor21 / 119369175
germ cell tumor7 / 26384526
glioma3 / 10688328
head and neck tumor17 / 136302124
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor93 / 96359965
lung tumor81 / 103127785
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal222 / 336030766
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland1 / 3319730
ascites9 / 40015224
bladder20 / 29757672
blood3 / 12347824
bone12 / 71655167
bone marrow10 / 48801204
brain19 / 110098917
cervix8 / 48171166
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus5 / 20209247
eye9 / 21105442
heart3 / 8962633
intestine36 / 234472153
kidney27 / 211777127
larynx2 / 2414582
liver137 / 207743659
lung111 / 336974329
lymph0 / 442700 
lymph node4 / 9161043
mammary gland12 / 15327178
mouth12 / 67052178
muscle10 / 10771592
nerve0 / 157680 
ovary1 / 1020519
pancreas23 / 214812107
parathyroid30 / 205391460
pharynx6 / 41328145
pituitary gland1 / 1658560
placenta5 / 28082517
prostate6 / 18934531
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach18 / 96619186
testis6 / 33044218
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus8 / 23287834
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209160_at
Cell line Expression level Expression bar
721_B_lymphoblasts18.85
Adipocyte1619.45
AdrenalCortex5.85
Adrenalgland15.6
Amygdala5.7
Appendix5.85
AtrioventricularNode4.8
BDCA4+_DentriticCells19.4
Bonemarrow8.35
BronchialEpithelialCells859.1
CD105+_Endothelial2011.35
CD14+_Monocytes5.9
CD19+_BCells(neg._sel.)5.65
CD33+_Myeloid6.85
CD34+401.05
CD4+_Tcells6.05
CD56+_NKCells931.1
CD71+_EarlyErythroid77.05
CD8+_Tcells5.1
CardiacMyocytes47.4
Caudatenucleus5.05
Cerebellum4.5
CerebellumPeduncles6.3
CiliaryGanglion4.45
CingulateCortex5.7
Colorectaladenocarcinoma5.55
DorsalRootGanglion4.5
FetalThyroid8.5
Fetalbrain5.35
Fetalliver34.05
Fetallung6.05
GlobusPallidus4.15
Heart11.05
Hypothalamus6.05
Kidney267.35
Leukemia_chronicMyelogenousK-5625
Leukemia_promyelocytic-HL-604.9
Leukemialymphoblastic(MOLT-4)4.3
Liver193.15
Lung213.8
Lymphnode4.7
Lymphoma_burkitts(Daudi)7.15
Lymphoma_burkitts(Raji)7.95
MedullaOblongata4.95
OccipitalLobe4.95
OlfactoryBulb4.35
Ovary3.75
Pancreas122.45
PancreaticIslet84.45
ParietalLobe5.95
Pituitary6.4
Placenta5.45
Pons5.3
PrefrontalCortex7
Prostate6.35
Salivarygland4.6
SkeletalMuscle7.15
Skin4.7
SmoothMuscle434.5
Spinalcord6
SubthalamicNucleus5.1
SuperiorCervicalGanglion6.95
TemporalLobe5.2
Testis4.75
TestisGermCell4.45
TestisIntersitial4.65
TestisLeydigCell5.65
TestisSeminiferousTubule4.7
Thalamus5.75
Thymus82.8
Thyroid6.85
Tongue6.95
Tonsil5.45
Trachea73.5
TrigeminalGanglion5.6
Uterus13.55
UterusCorpus5.05
WholeBlood7.15
Wholebrain4.7
colon417.2
pineal_day8.44
pineal_night6.9
retina18.85
small_intestine1319.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15152_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
Amygdala6.78 ± 0.26
Basal Forebrain6.94 ± 0.31
Basal Part of Pons7.33 ± 0.33
Cerebellar Cortex6.53 ± 0.24
Cerebellar Nuclei7.05 ± 0.34
Claustrum7.27 ± 0.58
Epithalamus7.23 ± 0.52
Frontal Lobe7.19 ± 0.43
Globus Pallidus7.16 ± 0.46
Hypothalamus7.57 ± 0.46
Insula7.06 ± 0.3
Limbic Lobe6.64 ± 0.49
Mesencephalon6.91 ± 0.49
Myelencephalon7.07 ± 0.57
Occipital Lobe6.58 ± 0.46
Parietal Lobe6.98 ± 0.49
Pontine Tegmentum7.11 ± 0.46
Striatum7.92 ± 0.42
Subthalamus7.06 ± 0.39
Temporal Lobe7.01 ± 0.42
Thalamus7.47 ± 0.43
White Matter6.07 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Akr1c18CBCerebellum1.67
2.5
Akr1c18CTXCerebral cortex4.09
4.33
Akr1c18HIPHippocampal region2.04
3.64
Akr1c18HPFHippocampal formation1.85
2.78
Akr1c18HYHypothalamus0.28
0.29
Akr1c18LSXLateral septal complex0.7
0.97
Akr1c18MBMidbrain1.02
1.35
Akr1c18MYMedulla3.72
4.33
Akr1c18OLFOlfactory bulb4.16
5.61
Akr1c18PPons1.87
1.9
Akr1c18PALPallidum0.58
0.48
Akr1c18RHPRetrohippocampal region1.53
1.66
Akr1c18sAMYStriatum-like amygdalar nuclei0.41
0.3
Akr1c18STRStriatum0.59
0.91
Akr1c18STRdStriatum dorsal region0.4
0.8
Akr1c18STRvStriatum ventral region1.22
1.42
Akr1c18THThalamus0.41
0.43
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AK1C3_HUMAN_1 31 1 31 MDSKQQCVKLNDGHFMPVLGFGTYAPPEVPR PRIDE
AK1C3_HUMAN_10 22 10 31 LNDGHFMPVLGFGTYAPPEVPR PRIDE
AK1C3_HUMAN_287 15 287 301 QLTAEDMKAIDGLDR PRIDE
AK1C3_HUMAN_32 16 32 47 SKALEVTKLAIEAGFR PRIDE
PAp00006245 17 230 246 PNSPVLLEDPVLCALAK 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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