AutismKB 2.0

Annotation Detail for SRD5A3


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Basic Information Top
Gene Symbol:SRD5A3 ( FLJ13352,SRD5A2L,SRD5A2L1 )
Gene Full Name: steroid 5 alpha-reductase 3
Band: 4q12
Quick LinksEntrez ID:79644; OMIM: 611715; Uniprot ID:PORED_HUMAN; ENSEMBL ID: ENSG00000128039; HGNC ID: 25812
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 
blastocyst1 / 6231916
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
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) tumor9 / 9417895
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal47 / 336030713
ovarian tumor5 / 7668265
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor8 / 12494964
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor4 / 9025744
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 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain5 / 11009894
cervix2 / 4817141
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye6 / 21105428
heart2 / 8962622
intestine3 / 23447212
kidney6 / 21177728
larynx0 / 241450 
liver1 / 2077434
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland11 / 15327171
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary5 / 10205148
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta11 / 28082539
prostate6 / 18934531
salivary gland0 / 201550 
skin10 / 21057447
spleen0 / 539520 
stomach1 / 9661910
testis3 / 3304429
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218800_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.6
Adipocyte8.7
AdrenalCortex12.55
Adrenalgland8.3
Amygdala8.4
Appendix15.75
AtrioventricularNode13.15
BDCA4+_DentriticCells7.85
Bonemarrow11.25
BronchialEpithelialCells8.35
CD105+_Endothelial8.45
CD14+_Monocytes9.35
CD19+_BCells(neg._sel.)8.85
CD33+_Myeloid9.95
CD34+9.7
CD4+_Tcells8
CD56+_NKCells9.15
CD71+_EarlyErythroid8.5
CD8+_Tcells7.15
CardiacMyocytes18.75
Caudatenucleus7.95
Cerebellum7.45
CerebellumPeduncles12.4
CiliaryGanglion9.95
CingulateCortex9.75
Colorectaladenocarcinoma8.65
DorsalRootGanglion9
FetalThyroid9.55
Fetalbrain8.45
Fetalliver8.2
Fetallung6.15
GlobusPallidus7.4
Heart17.05
Hypothalamus8.9
Kidney8.65
Leukemia_chronicMyelogenousK-5627.9
Leukemia_promyelocytic-HL-607.8
Leukemialymphoblastic(MOLT-4)6.55
Liver15.35
Lung9.45
Lymphnode6.85
Lymphoma_burkitts(Daudi)12.25
Lymphoma_burkitts(Raji)15.6
MedullaOblongata7.95
OccipitalLobe7.85
OlfactoryBulb6.75
Ovary7.05
Pancreas7.8
PancreaticIslet9.8
ParietalLobe11.5
Pituitary10.45
Placenta8.25
Pons9.45
PrefrontalCortex9.75
Prostate9.95
Salivarygland7.8
SkeletalMuscle18.6
Skin9.45
SmoothMuscle9.85
Spinalcord9.1
SubthalamicNucleus9.15
SuperiorCervicalGanglion21.75
TemporalLobe8.8
Testis7.4
TestisGermCell6.8
TestisIntersitial7.65
TestisLeydigCell10.3
TestisSeminiferousTubule7.6
Thalamus9.45
Thymus6.25
Thyroid10.1
Tongue10.95
Tonsil8.9
Trachea7.35
TrigeminalGanglion13.75
Uterus6.65
UterusCorpus12.5
WholeBlood9.15
Wholebrain6.9
colon8.5
pineal_day10.2
pineal_night10.2
retina10.65
small_intestine8.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8000_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
Amygdala7.06 ± 0.33
Basal Forebrain6.89 ± 0.07
Basal Part of Pons7.38 ± 0.17
Cerebellar Cortex6.94 ± 0.2
Cerebellar Nuclei7.43 ± 0.27
Claustrum6.95 ± 0.43
Epithalamus6.92 ± 0.26
Frontal Lobe7.2 ± 0.31
Globus Pallidus7.35 ± 0.22
Hypothalamus7.21 ± 0.45
Insula7.22 ± 0.27
Limbic Lobe7.23 ± 0.34
Mesencephalon7.03 ± 0.39
Myelencephalon7.15 ± 0.37
Occipital Lobe6.86 ± 0.28
Parietal Lobe7.03 ± 0.26
Pontine Tegmentum7.16 ± 0.29
Striatum6.91 ± 0.32
Subthalamus7.3 ± 0.49
Temporal Lobe7.32 ± 0.31
Thalamus7.08 ± 0.32
White Matter8.27 ± 0.34
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000388 10 232 241 AGVVIHCNHR 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