AutismKB 2.0

Annotation Detail for DHCR7


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Basic Information Top
Gene Symbol:DHCR7 ( SLOS )
Gene Full Name: 7-dehydrocholesterol reductase
Band: 11q13.4
Quick LinksEntrez ID:1717; OMIM: 602858; Uniprot ID:DHCR7_HUMAN; ENSEMBL ID: ENSG00000172893; HGNC ID: 2860
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 body5 / 7076170
blastocyst5 / 6231980
fetus65 / 564012115
neonate10 / 31097321
infant2 / 2362084
juvenile21 / 55556377
adult220 / 1939121113
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor8 / 9417884
cervical tumor5 / 34366145
chondrosarcoma5 / 8282360
colorectal tumor9 / 11424678
esophageal tumor3 / 17290173
gastrointestinal tumor22 / 119369184
germ cell tumor90 / 263845341
glioma9 / 10688384
head and neck tumor15 / 136302110
kidney tumor8 / 68959116
leukemia9 / 9584293
liver tumor10 / 96359103
lung tumor6 / 10312758
lymphoma21 / 71755292
non-neoplasia5 / 9725051
normal312 / 336030792
ovarian tumor12 / 76682156
pancreatic tumor20 / 104616191
primitive neuroectodermal tumor of the CNS39 / 125680310
prostate cancer19 / 102680185
retinoblastoma0 / 463560 
skin tumor13 / 124949104
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland21 / 33197632
ascites9 / 40015224
bladder1 / 2975733
blood7 / 12347856
bone6 / 7165583
bone marrow4 / 4880181
brain148 / 1100989134
cervix9 / 48171186
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus4 / 20209197
eye13 / 21105461
heart3 / 8962633
intestine22 / 23447293
kidney24 / 211777113
larynx2 / 2414582
liver18 / 20774386
lung14 / 33697441
lymph16 / 44270361
lymph node4 / 9161043
mammary gland11 / 15327171
mouth10 / 67052149
muscle0 / 1077150 
nerve4 / 15768253
ovary21 / 102051205
pancreas20 / 21481293
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate29 / 189345153
salivary gland0 / 201550 
skin36 / 210574170
spleen3 / 5395255
stomach8 / 9661982
testis76 / 330442229
thymus3 / 8113136
thyroid5 / 47473105
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus12 / 23287851
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201791_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts301.5
Adipocyte30.85
AdrenalCortex121.7
Adrenalgland105.7
Amygdala8.75
Appendix6.55
AtrioventricularNode4.6
BDCA4+_DentriticCells6.6
Bonemarrow7
BronchialEpithelialCells158.1
CD105+_Endothelial6
CD14+_Monocytes5.9
CD19+_BCells(neg._sel.)6.65
CD33+_Myeloid7.7
CD34+10.55
CD4+_Tcells6.1
CD56+_NKCells7.45
CD71+_EarlyErythroid5.45
CD8+_Tcells5.4
CardiacMyocytes7.65
Caudatenucleus6.1
Cerebellum6.8
CerebellumPeduncles7.1
CiliaryGanglion4.35
CingulateCortex8
Colorectaladenocarcinoma112.95
DorsalRootGanglion5.7
FetalThyroid5.8
Fetalbrain6.45
Fetalliver82.45
Fetallung25.05
GlobusPallidus5.2
Heart8.1
Hypothalamus12.15
Kidney4.85
Leukemia_chronicMyelogenousK-562185.2
Leukemia_promyelocytic-HL-6028.8
Leukemialymphoblastic(MOLT-4)79.7
Liver37.8
Lung23.7
Lymphnode5.15
Lymphoma_burkitts(Daudi)38.1
Lymphoma_burkitts(Raji)59.4
MedullaOblongata6.7
OccipitalLobe6.4
OlfactoryBulb4.4
Ovary8.65
Pancreas7.2
PancreaticIslet6.55
ParietalLobe6.65
Pituitary6.9
Placenta5.75
Pons6.1
PrefrontalCortex49
Prostate22.95
Salivarygland5.05
SkeletalMuscle6.85
Skin4.5
SmoothMuscle22.4
Spinalcord11.95
SubthalamicNucleus5.75
SuperiorCervicalGanglion6.95
TemporalLobe6.35
Testis25.4
TestisGermCell16.9
TestisIntersitial6.6
TestisLeydigCell6.65
TestisSeminiferousTubule6.05
Thalamus14.05
Thymus4.4
Thyroid7.85
Tongue6.05
Tonsil5.85
Trachea4.9
TrigeminalGanglion5.95
Uterus4.1
UterusCorpus5.2
WholeBlood5.35
Wholebrain17.75
colon6.3
pineal_day8.6
pineal_night7.42
retina18.075
small_intestine5.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15018_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
Amygdala3.29 ± 0.83
Basal Forebrain2.89 ± 0.51
Basal Part of Pons2.86 ± 0.55
Cerebellar Cortex2.93 ± 0.81
Cerebellar Nuclei3.16 ± 0.86
Claustrum3.32 ± 0.71
Epithalamus2.7 ± 0.91
Frontal Lobe3.34 ± 0.71
Globus Pallidus2.93 ± 0.74
Hypothalamus3.21 ± 0.32
Insula3.05 ± 0.77
Limbic Lobe2.89 ± 0.72
Mesencephalon3.07 ± 0.85
Myelencephalon3.05 ± 0.72
Occipital Lobe2.58 ± 0.76
Parietal Lobe2.96 ± 0.59
Pontine Tegmentum3.2 ± 0.62
Striatum2.77 ± 0.68
Subthalamus2.9 ± 0.61
Temporal Lobe3.07 ± 0.7
Thalamus3.2 ± 0.69
White Matter4.39 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Dhcr7CBCerebellum33.41
48.98
Dhcr7CTXCerebral cortex59.54
44.49
Dhcr7HIPHippocampal region43.1
61.46
Dhcr7HPFHippocampal formation56.7
65.81
Dhcr7HYHypothalamus78.57
70.75
Dhcr7LSXLateral septal complex20.64
15.82
Dhcr7MBMidbrain33.5
32.41
Dhcr7MYMedulla57.97
72.36
Dhcr7OLFOlfactory bulb89.6
88.91
Dhcr7PPons55.94
61.77
Dhcr7PALPallidum57.8
54.25
Dhcr7RHPRetrohippocampal region82.44
73.78
Dhcr7sAMYStriatum-like amygdalar nuclei100
100
Dhcr7STRStriatum53.94
45.77
Dhcr7STRdStriatum dorsal region31.24
22.85
Dhcr7STRvStriatum ventral region100
89.24
Dhcr7THThalamus31.41
25.61
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DHCR7_HUMAN_2 21 2 22 AAKSQPNIPKAKSLDGVTNDR PRIDE
PAp00008343 13 377 389 VIECSYTSADGQR 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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