AutismKB 2.0

Annotation Detail for CYP11A1


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Basic Information Top
Gene Symbol:CYP11A1 ( CYP11A,P450SCC )
Gene Full Name: cytochrome P450, family 11, subfamily A, polypeptide 1
Band: 15q24.1
Quick LinksEntrez ID:1583; OMIM: 118485; Uniprot ID:CP11A_HUMAN; ENSEMBL ID: ENSG00000140459; HGNC ID: 2590
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
fetus25 / 56401244
neonate0 / 310970 
infant3 / 23620127
juvenile2 / 5555635
adult261 / 1939121134
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor7 / 12794547
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor7 / 26384526
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal514 / 3360307152
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland212 / 331976386
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain43 / 110098939
cervix5 / 48171103
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye4 / 21105418
heart3 / 8962633
intestine1 / 2344724
kidney7 / 21177733
larynx0 / 241450 
liver1 / 2077434
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary6 / 10205158
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta192 / 280825683
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis35 / 330442105
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204309_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.5
Adipocyte3.6
AdrenalCortex1193
Adrenalgland1978.85
Amygdala3.85
Appendix3.65
AtrioventricularNode2.75
BDCA4+_DentriticCells4
Bonemarrow3.55
BronchialEpithelialCells3.6
CD105+_Endothelial3.7
CD14+_Monocytes3.9
CD19+_BCells(neg._sel.)3.9
CD33+_Myeloid4.65
CD34+4.6
CD4+_Tcells4
CD56+_NKCells4.35
CD71+_EarlyErythroid3.45
CD8+_Tcells3.5
CardiacMyocytes4.7
Caudatenucleus3.25
Cerebellum2.9
CerebellumPeduncles4.1
CiliaryGanglion2.55
CingulateCortex3.7
Colorectaladenocarcinoma3.65
DorsalRootGanglion2.75
FetalThyroid3.55
Fetalbrain3.6
Fetalliver3.15
Fetallung3
GlobusPallidus2.65
Heart4.65
Hypothalamus3.95
Kidney2.9
Leukemia_chronicMyelogenousK-5623.3
Leukemia_promyelocytic-HL-603.2
Leukemialymphoblastic(MOLT-4)2.9
Liver4.8
Lung4
Lymphnode3.15
Lymphoma_burkitts(Daudi)4.6
Lymphoma_burkitts(Raji)5.1
MedullaOblongata3.35
OccipitalLobe3.25
OlfactoryBulb2.85
Ovary5.9
Pancreas2.95
PancreaticIslet3.9
ParietalLobe3.85
Pituitary4.25
Placenta1030.4
Pons3.45
PrefrontalCortex4.55
Prostate4.25
Salivarygland2.9
SkeletalMuscle4.25
Skin4
SmoothMuscle4.15
Spinalcord3.9
SubthalamicNucleus3.3
SuperiorCervicalGanglion4.1
TemporalLobe3.35
Testis14.4
TestisGermCell15.05
TestisIntersitial6.6
TestisLeydigCell23.8
TestisSeminiferousTubule6.7
Thalamus3.7
Thymus2.9
Thyroid4.6
Tongue3.55
Tonsil3.85
Trachea3.1
TrigeminalGanglion3.65
Uterus2.95
UterusCorpus3.25
WholeBlood4
Wholebrain3.05
colon3.7
pineal_day4.58
pineal_night4.46
retina4.375
small_intestine3.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P129169
  • 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
Amygdala4.34 ± 0.7
Basal Forebrain4.1 ± 0.42
Basal Part of Pons4.63 ± 0.21
Cerebellar Cortex3.68 ± 0.48
Cerebellar Nuclei4.23 ± 0.49
Claustrum4.49 ± 0.83
Epithalamus4.75 ± 0.49
Frontal Lobe4.01 ± 0.61
Globus Pallidus4.97 ± 0.72
Hypothalamus3.52 ± 0.46
Insula3.93 ± 0.54
Limbic Lobe4.14 ± 0.67
Mesencephalon4.26 ± 0.61
Myelencephalon4.25 ± 0.62
Occipital Lobe4.18 ± 0.66
Parietal Lobe4.23 ± 0.65
Pontine Tegmentum3.92 ± 0.72
Striatum4.68 ± 0.53
Subthalamus3.81 ± 0.53
Temporal Lobe3.94 ± 0.61
Thalamus4.24 ± 0.58
White Matter3.94 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cyp11a1CBCerebellum2.53
2.68
Cyp11a1CTXCerebral cortex7.67
5.55
Cyp11a1HIPHippocampal region3.52
4.1
Cyp11a1HPFHippocampal formation3.12
3.15
Cyp11a1HYHypothalamus2.93
2.37
Cyp11a1LSXLateral septal complex0.49
0.37
Cyp11a1MBMidbrain2.96
2.86
Cyp11a1MYMedulla2.59
2.59
Cyp11a1OLFOlfactory bulb7.42
5.68
Cyp11a1PPons2.11
2.32
Cyp11a1PALPallidum3.37
3.04
Cyp11a1RHPRetrohippocampal region2.27
1.61
Cyp11a1sAMYStriatum-like amygdalar nuclei2.04
1.82
Cyp11a1STRStriatum1.91
1.46
Cyp11a1STRdStriatum dorsal region1.09
0.78
Cyp11a1STRvStriatum ventral region5.1
3.65
Cyp11a1THThalamus4.45
4.33
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00163511 8 177 184 DFVSVLHR 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