AutismKB 2.0

Annotation Detail for HSD17B12


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Basic Information Top
Gene Symbol:HSD17B12 ( KAR,SDR12C1 )
Gene Full Name: hydroxysteroid (17-beta) dehydrogenase 12
Band: 11p11.2
Quick LinksEntrez ID:51144; OMIM: 609574; Uniprot ID:DHB12_HUMAN; ENSEMBL ID: ENSG00000149084; HGNC ID: 18646
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 body2 / 7076128
blastocyst2 / 6231932
fetus50 / 56401288
neonate21 / 31097675
infant5 / 23620211
juvenile12 / 55556215
adult218 / 1939121112
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) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma8 / 8282396
colorectal tumor18 / 114246157
esophageal tumor15 / 17290867
gastrointestinal tumor13 / 119369108
germ cell tumor101 / 263845382
glioma4 / 10688337
head and neck tumor7 / 13630251
kidney tumor17 / 68959246
leukemia5 / 9584252
liver tumor8 / 9635983
lung tumor4 / 10312738
lymphoma2 / 7175527
non-neoplasia21 / 97250215
normal463 / 3360307137
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer10 / 10268097
retinoblastoma0 / 463560 
skin tumor9 / 12494972
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites2 / 4001549
bladder7 / 29757235
blood18 / 123478145
bone10 / 71655139
bone marrow1 / 4880120
brain217 / 1100989197
cervix2 / 4817141
connective tissue31 / 149255207
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus16 / 20209791
eye7 / 21105433
heart8 / 8962689
intestine45 / 234472191
kidney82 / 211777387
larynx0 / 241450 
liver16 / 20774377
lung29 / 33697486
lymph1 / 4427022
lymph node1 / 9161010
mammary gland6 / 15327139
mouth14 / 67052208
muscle17 / 107715157
nerve1 / 1576863
ovary2 / 10205119
pancreas12 / 21481255
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta12 / 28082542
prostate22 / 189345116
salivary gland0 / 201550 
skin39 / 210574185
spleen9 / 53952166
stomach9 / 9661993
testis62 / 330442187
thymus2 / 8113124
thyroid1 / 4747321
tonsil1 / 1699958
trachea12 / 52413228
umbilical cord1 / 1368073
uterus29 / 232878124
vascular18 / 51780347
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217869_at
Cell line Expression level Expression bar
721_B_lymphoblasts848.25
Adipocyte1484.4
AdrenalCortex192.95
Adrenalgland130.8
Amygdala346.55
Appendix78.35
AtrioventricularNode124.55
BDCA4+_DentriticCells470.35
Bonemarrow44.55
BronchialEpithelialCells732.85
CD105+_Endothelial238.45
CD14+_Monocytes236.55
CD19+_BCells(neg._sel.)459.65
CD33+_Myeloid342.45
CD34+420.25
CD4+_Tcells90.15
CD56+_NKCells307.7
CD71+_EarlyErythroid57.5
CD8+_Tcells95.25
CardiacMyocytes115.95
Caudatenucleus180.6
Cerebellum52
CerebellumPeduncles209.85
CiliaryGanglion104.7
CingulateCortex141.35
Colorectaladenocarcinoma430.65
DorsalRootGanglion180.95
FetalThyroid252.2
Fetalbrain144.15
Fetalliver332.9
Fetallung316.85
GlobusPallidus64.3
Heart21.95
Hypothalamus654.55
Kidney114.8
Leukemia_chronicMyelogenousK-562151.2
Leukemia_promyelocytic-HL-60271.55
Leukemialymphoblastic(MOLT-4)139.4
Liver176.15
Lung82.6
Lymphnode120.15
Lymphoma_burkitts(Daudi)323.65
Lymphoma_burkitts(Raji)80.35
MedullaOblongata157.65
OccipitalLobe301.55
OlfactoryBulb302.2
Ovary89.85
Pancreas348
PancreaticIslet281.1
ParietalLobe230.25
Pituitary439.85
Placenta74.5
Pons125.95
PrefrontalCortex243.75
Prostate338.9
Salivarygland153.45
SkeletalMuscle15.6
Skin135.05
SmoothMuscle430
Spinalcord497.25
SubthalamicNucleus60.6
SuperiorCervicalGanglion68.1
TemporalLobe111.45
Testis71.8
TestisGermCell301.4
TestisIntersitial91
TestisLeydigCell96.95
TestisSeminiferousTubule124.25
Thalamus234.2
Thymus72.55
Thyroid484.9
Tongue127.05
Tonsil142.85
Trachea173.05
TrigeminalGanglion48.2
Uterus300.05
UterusCorpus56.05
WholeBlood94.4
Wholebrain311.7
colon313.2
pineal_day905.78
pineal_night910.8
retina419.05
small_intestine300.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P392774
  • 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
Amygdala7.85 ± 0.29
Basal Forebrain7.93 ± 0.14
Basal Part of Pons7.59 ± 0.23
Cerebellar Cortex7.58 ± 0.26
Cerebellar Nuclei8.3 ± 0.39
Claustrum7.52 ± 0.34
Epithalamus7.73 ± 0.35
Frontal Lobe7.83 ± 0.39
Globus Pallidus8.83 ± 0.26
Hypothalamus7.93 ± 0.28
Insula7.7 ± 0.27
Limbic Lobe7.86 ± 0.46
Mesencephalon8.06 ± 0.32
Myelencephalon7.85 ± 0.37
Occipital Lobe8.15 ± 0.39
Parietal Lobe7.91 ± 0.36
Pontine Tegmentum8.05 ± 0.3
Striatum7.93 ± 0.37
Subthalamus7.99 ± 0.28
Temporal Lobe7.73 ± 0.33
Thalamus7.98 ± 0.27
White Matter8.77 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hsd17b12CBCerebellum27.66
67.68
Hsd17b12CTXCerebral cortex81.44
81.22
Hsd17b12HIPHippocampal region52.33
89.59
Hsd17b12HPFHippocampal formation61.74
85.76
Hsd17b12HYHypothalamus32.35
36.29
Hsd17b12LSXLateral septal complex64.64
67.25
Hsd17b12MBMidbrain32.07
43.91
Hsd17b12MYMedulla37.28
64.77
Hsd17b12OLFOlfactory bulb48.08
53.76
Hsd17b12PPons34.96
59.27
Hsd17b12PALPallidum41.03
54.94
Hsd17b12RHPRetrohippocampal region80.6
83.73
Hsd17b12sAMYStriatum-like amygdalar nuclei42.68
44.43
Hsd17b12STRStriatum28.35
29.37
Hsd17b12STRdStriatum dorsal region24.54
25.65
Hsd17b12STRvStriatum ventral region20.2
20.45
Hsd17b12THThalamus59.47
72.11
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004018 16 242 257 IRKPTLDKPSPETFVK 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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