AutismKB 2.0

Annotation Detail for HSD3B7


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Basic Information Top
Gene Symbol:HSD3B7 ( PFIC4,SDR11E3 )
Gene Full Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Band: 16p11.2
Quick LinksEntrez ID:80270; OMIM: 607764; Uniprot ID:3BHS7_HUMAN; ENSEMBL ID: ENSG00000099377; HGNC ID: 18324
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
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult29 / 193912114
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor1 / 2638453
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor5 / 6895972
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal38 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow2 / 4880140
brain7 / 11009896
cervix3 / 4817162
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine3 / 23447212
kidney11 / 21177751
larynx0 / 241450 
liver3 / 20774314
lung10 / 33697429
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta5 / 28082517
prostate5 / 18934526
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach3 / 9661931
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P206819
  • 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
Amygdala2.41 ± 1
Basal Forebrain1.98 ± 0.26
Basal Part of Pons1.6 ± 0.38
Cerebellar Cortex1.99 ± 0.72
Cerebellar Nuclei2.26 ± 0.72
Claustrum2.85 ± 0.85
Epithalamus1.66 ± 0.81
Frontal Lobe1.88 ± 0.68
Globus Pallidus2.42 ± 0.45
Hypothalamus2.05 ± 0.61
Insula1.83 ± 0.54
Limbic Lobe1.9 ± 0.66
Mesencephalon2.13 ± 0.73
Myelencephalon2 ± 0.68
Occipital Lobe1.97 ± 0.61
Parietal Lobe2 ± 0.79
Pontine Tegmentum2.03 ± 0.72
Striatum1.93 ± 0.6
Subthalamus2.25 ± 0.58
Temporal Lobe1.9 ± 0.72
Thalamus1.95 ± 0.63
White Matter2.25 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hsd3b7CBCerebellum1.85
2.19
Hsd3b7CTXCerebral cortex2.59
2.02
Hsd3b7HIPHippocampal region6.46
6.98
Hsd3b7HPFHippocampal formation6.07
5.99
Hsd3b7HYHypothalamus2.79
2.78
Hsd3b7LSXLateral septal complex1.32
1.03
Hsd3b7MBMidbrain1.33
1.76
Hsd3b7MYMedulla1.24
2.42
Hsd3b7OLFOlfactory bulb13.58
12.62
Hsd3b7PPons3.44
4.29
Hsd3b7PALPallidum3.28
2.88
Hsd3b7RHPRetrohippocampal region5.4
4.56
Hsd3b7sAMYStriatum-like amygdalar nuclei5.48
3.92
Hsd3b7STRStriatum2.62
2.05
Hsd3b7STRdStriatum dorsal region0.42
0.37
Hsd3b7STRvStriatum ventral region9.83
6.97
Hsd3b7THThalamus2.82
2.54
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00040526 19 145 163 GNEDTPYEAVHRHPYPCSK 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