AutismKB 2.0

Annotation Detail for SRD5A1


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Basic Information Top
Gene Symbol:SRD5A1 ( S5AR 1 )
Gene Full Name: steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)
Band: 5p15.31
Quick LinksEntrez ID:6715; OMIM: 184753; Uniprot ID:S5A1_HUMAN; ENSEMBL ID: ENSG00000145545; HGNC ID: 11284
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
blastocyst1 / 6231916
fetus56 / 56401299
neonate2 / 3109764
infant0 / 236200 
juvenile5 / 5555689
adult53 / 193912127
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor6 / 34366174
chondrosarcoma0 / 828230 
colorectal tumor4 / 11424635
esophageal tumor2 / 17290115
gastrointestinal tumor5 / 11936941
germ cell tumor21 / 26384579
glioma3 / 10688328
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia5 / 9725051
normal160 / 336030747
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor5 / 12494940
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites3 / 4001574
bladder0 / 297570 
blood5 / 12347840
bone2 / 7165527
bone marrow2 / 4880140
brain87 / 110098979
cervix6 / 48171124
connective tissue5 / 14925533
ear1 / 1621261
embryonic tissue5 / 21572223
esophagus2 / 2020998
eye6 / 21105428
heart0 / 896260 
intestine11 / 23447246
kidney5 / 21177723
larynx0 / 241450 
liver9 / 20774343
lung2 / 3369745
lymph1 / 4427022
lymph node8 / 9161087
mammary gland2 / 15327113
mouth7 / 67052104
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta1 / 2808253
prostate4 / 18934521
salivary gland0 / 201550 
skin10 / 21057447
spleen3 / 5395255
stomach3 / 9661931
testis10 / 33044230
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210959_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.9
Adipocyte4.75
AdrenalCortex5.15
Adrenalgland4.05
Amygdala5.05
Appendix5.6
AtrioventricularNode4
BDCA4+_DentriticCells6.2
Bonemarrow4.9
BronchialEpithelialCells4.8
CD105+_Endothelial4.8
CD14+_Monocytes5.8
CD19+_BCells(neg._sel.)5.05
CD33+_Myeloid10.05
CD34+6
CD4+_Tcells5.05
CD56+_NKCells5.75
CD71+_EarlyErythroid4.5
CD8+_Tcells4.55
CardiacMyocytes6.7
Caudatenucleus4.3
Cerebellum3.9
CerebellumPeduncles5.55
CiliaryGanglion3.6
CingulateCortex4.9
Colorectaladenocarcinoma5.45
DorsalRootGanglion4.05
FetalThyroid4.7
Fetalbrain9.4
Fetalliver4.15
Fetallung3.85
GlobusPallidus3.6
Heart6.45
Hypothalamus5.1
Kidney4
Leukemia_chronicMyelogenousK-5624.35
Leukemia_promyelocytic-HL-604.3
Leukemialymphoblastic(MOLT-4)3.8
Liver8.25
Lung5.25
Lymphnode4.05
Lymphoma_burkitts(Daudi)6.3
Lymphoma_burkitts(Raji)7.1
MedullaOblongata4.4
OccipitalLobe4.3
OlfactoryBulb3.8
Ovary3.25
Pancreas3.95
PancreaticIslet5.1
ParietalLobe5.15
Pituitary5.6
Placenta4.85
Pons4.6
PrefrontalCortex6
Prostate5.6
Salivarygland3.9
SkeletalMuscle5.65
Skin3.95
SmoothMuscle5.4
Spinalcord5.15
SubthalamicNucleus4.4
SuperiorCervicalGanglion5.85
TemporalLobe4.4
Testis4.1
TestisGermCell3.9
TestisIntersitial4.1
TestisLeydigCell4.75
TestisSeminiferousTubule4.1
Thalamus4.85
Thymus3.8
Thyroid5.9
Tongue4.85
Tonsil4.7
Trachea4
TrigeminalGanglion5.15
Uterus3.9
UterusCorpus4.4
WholeBlood5.3
Wholebrain4.1
colon4.85
pineal_day5.92
pineal_night5.78
retina5.775
small_intestine5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14649_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
Amygdala8.77 ± 0.31
Basal Forebrain8.44 ± 0.31
Basal Part of Pons9.18 ± 0.34
Cerebellar Cortex8.44 ± 0.41
Cerebellar Nuclei9.1 ± 0.5
Claustrum9.52 ± 0.59
Epithalamus7.82 ± 0.49
Frontal Lobe8.79 ± 0.52
Globus Pallidus8.84 ± 0.37
Hypothalamus8.57 ± 0.25
Insula8.6 ± 0.32
Limbic Lobe9.1 ± 0.5
Mesencephalon8.76 ± 0.5
Myelencephalon8.74 ± 0.5
Occipital Lobe8.98 ± 0.41
Parietal Lobe8.86 ± 0.52
Pontine Tegmentum8.79 ± 0.46
Striatum8.7 ± 0.38
Subthalamus9.21 ± 0.19
Temporal Lobe8.68 ± 0.38
Thalamus8.83 ± 0.39
White Matter7.74 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Srd5a1CBCerebellum1.11
1.58
Srd5a1CTXCerebral cortex0.77
0.67
Srd5a1HIPHippocampal region0.69
0.74
Srd5a1HPFHippocampal formation0.64
0.72
Srd5a1HYHypothalamus0.32
0.2
Srd5a1LSXLateral septal complex0.54
0.44
Srd5a1MBMidbrain1
1.01
Srd5a1MYMedulla0.61
0.68
Srd5a1OLFOlfactory bulb2.04
3.03
Srd5a1PPons0.53
0.37
Srd5a1PALPallidum0.22
0.18
Srd5a1RHPRetrohippocampal region0.56
0.69
Srd5a1sAMYStriatum-like amygdalar nuclei0.29
0.29
Srd5a1STRStriatum0.28
0.32
Srd5a1STRdStriatum dorsal region0.23
0.36
Srd5a1STRvStriatum ventral region0.26
0.09
Srd5a1THThalamus0.56
0.46
Peptide Top

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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