AutismKB 2.0

Annotation Detail for HSD17B10


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Basic Information Top
Gene Symbol:HSD17B10 ( 17b-HSD10,ABAD,CAMR,DUPXp11.22,ERAB,HADH2,HCD2,MHBD,MRPP2,MRX17,MRX31,MRXS10,SCHAD,SDR5C1 )
Gene Full Name: hydroxysteroid (17-beta) dehydrogenase 10
Band: Xp11.22
Quick LinksEntrez ID:3028; OMIM: 300256; Uniprot ID:HCD2_HUMAN; ENSEMBL ID: ENSG00000072506; HGNC ID: 4800
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 body3 / 7076142
blastocyst2 / 6231932
fetus33 / 56401258
neonate2 / 3109764
infant0 / 236200 
juvenile10 / 55556179
adult109 / 193912156
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) tumor16 / 94178169
cervical tumor5 / 34366145
chondrosarcoma5 / 8282360
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor11 / 26384541
glioma5 / 10688346
head and neck tumor5 / 13630236
kidney tumor8 / 68959116
leukemia15 / 95842156
liver tumor5 / 9635951
lung tumor14 / 103127135
lymphoma4 / 7175555
non-neoplasia3 / 9725030
normal124 / 336030736
ovarian tumor14 / 76682182
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS27 / 125680214
prostate cancer7 / 10268068
retinoblastoma2 / 4635643
skin tumor12 / 12494996
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood13 / 123478105
bone5 / 7165569
bone marrow1 / 4880120
brain35 / 110098931
cervix8 / 48171166
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye9 / 21105442
heart3 / 8962633
intestine17 / 23447272
kidney16 / 21177775
larynx0 / 241450 
liver11 / 20774352
lung28 / 33697483
lymph3 / 4427067
lymph node6 / 9161065
mammary gland16 / 153271104
mouth0 / 670520 
muscle2 / 10771518
nerve2 / 15768126
ovary15 / 102051146
pancreas16 / 21481274
parathyroid4 / 20539194
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta9 / 28082532
prostate14 / 18934573
salivary gland2 / 2015599
skin18 / 21057485
spleen1 / 5395218
stomach2 / 9661920
testis8 / 33044224
thymus2 / 8113124
thyroid3 / 4747363
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord2 / 13680146
uterus17 / 23287872
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202282_at
Cell line Expression level Expression bar
721_B_lymphoblasts593.05
Adipocyte221.15
AdrenalCortex204.5
Adrenalgland292.8
Amygdala45.1
Appendix53.2
AtrioventricularNode77.45
BDCA4+_DentriticCells387.45
Bonemarrow126.15
BronchialEpithelialCells281.85
CD105+_Endothelial382.6
CD14+_Monocytes430.1
CD19+_BCells(neg._sel.)394.75
CD33+_Myeloid406.3
CD34+475
CD4+_Tcells251.8
CD56+_NKCells366.15
CD71+_EarlyErythroid158.75
CD8+_Tcells206.35
CardiacMyocytes220.8
Caudatenucleus63.75
Cerebellum99.05
CerebellumPeduncles131.15
CiliaryGanglion76.75
CingulateCortex76.4
Colorectaladenocarcinoma392.85
DorsalRootGanglion86.85
FetalThyroid244.75
Fetalbrain85.7
Fetalliver75.2
Fetallung151.6
GlobusPallidus53.3
Heart510.75
Hypothalamus177.15
Kidney279.7
Leukemia_chronicMyelogenousK-562135
Leukemia_promyelocytic-HL-60302.2
Leukemialymphoblastic(MOLT-4)392
Liver1343.5
Lung238.25
Lymphnode106.05
Lymphoma_burkitts(Daudi)464.55
Lymphoma_burkitts(Raji)244.4
MedullaOblongata65.15
OccipitalLobe51.1
OlfactoryBulb80.8
Ovary99.3
Pancreas80
PancreaticIslet165.8
ParietalLobe50.35
Pituitary224.15
Placenta135.55
Pons86.3
PrefrontalCortex85.8
Prostate207.35
Salivarygland87
SkeletalMuscle82.75
Skin66.7
SmoothMuscle266.95
Spinalcord141.25
SubthalamicNucleus64.45
SuperiorCervicalGanglion139.85
TemporalLobe38.85
Testis92.4
TestisGermCell67.15
TestisIntersitial33.8
TestisLeydigCell54.2
TestisSeminiferousTubule38.35
Thalamus93.5
Thymus255
Thyroid362.6
Tongue148.4
Tonsil156.75
Trachea95.4
TrigeminalGanglion80.5
Uterus120.9
UterusCorpus84.3
WholeBlood157.3
Wholebrain116.95
colon136.1
pineal_day230.58
pineal_night209.62
retina215.55
small_intestine199.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15583_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
Amygdala5.9 ± 0.48
Basal Forebrain6.21 ± 0.2
Basal Part of Pons6.18 ± 0.43
Cerebellar Cortex6.15 ± 0.31
Cerebellar Nuclei6.34 ± 0.22
Claustrum5.56 ± 0.51
Epithalamus6.46 ± 0.35
Frontal Lobe6.24 ± 0.39
Globus Pallidus6.96 ± 0.25
Hypothalamus6.71 ± 0.29
Insula6.16 ± 0.32
Limbic Lobe5.98 ± 0.44
Mesencephalon6.2 ± 0.4
Myelencephalon6.21 ± 0.39
Occipital Lobe5.78 ± 0.3
Parietal Lobe6.06 ± 0.38
Pontine Tegmentum6.21 ± 0.48
Striatum6.42 ± 0.33
Subthalamus6.4 ± 0.27
Temporal Lobe6.18 ± 0.41
Thalamus6.32 ± 0.31
White Matter6.87 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hadh2CBCerebellum12.93
17.42
Hadh2CTXCerebral cortex74.06
61.23
Hadh2HIPHippocampal region43.99
67.42
Hadh2HPFHippocampal formation57.42
71.12
Hadh2HYHypothalamus46.45
39.15
Hadh2LSXLateral septal complex86.52
65.79
Hadh2MBMidbrain21.7
20.81
Hadh2MYMedulla19.89
29.61
Hadh2OLFOlfactory bulb79.79
71.2
Hadh2PPons25.46
36.84
Hadh2PALPallidum47.88
44.85
Hadh2RHPRetrohippocampal region90.79
84.94
Hadh2sAMYStriatum-like amygdalar nuclei72.91
60.49
Hadh2STRStriatum72.99
55.19
Hadh2STRdStriatum dorsal region64.14
47.67
Hadh2STRvStriatum ventral region93.37
69.43
Hadh2THThalamus37.25
31.98
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HCD2_HUMAN_0 0 0 0 GGIVGMTLPIAR PRIDE
HCD2_HUMAN_0 0 0 0 GLVAVITGGASGLGLATAER PRIDE
HCD2_HUMAN_0 0 0 0 LGDPAEYAHLVQAIIENPFLNGEVIR PRIDE
HCD2_HUMAN_0 0 0 0 LVGQGASAVLLDLPNSGGEAQAK PRIDE
HCD2_HUMAN_0 0 0 0 VDVAVNCAGIAVASK PRIDE
HCD2_HUMAN_0 0 0 0 VMTIAPGLFGTPLLTSLPEK PRIDE
HCD2_HUMAN_105 11 105 115 GQTHTLEDFQR PRIDE
HCD2_HUMAN_116 14 116 129 VLDVNLMGTFNVIR PRIDE
HCD2_HUMAN_117 14 117 130 VLDVNLMGTFNVIR PRIDE
HCD2_HUMAN_130 17 130 146 LVAGEMGQNEPDQGGQR PRIDE
HCD2_HUMAN_147 25 147 171 GVIINTASVAAFEGQVGQAAYSASK PRIDE
HCD2_HUMAN_172 12 172 183 GGIVGMTLPIAR PRIDE
HCD2_HUMAN_173 12 173 184 GGIVGMTLPIAR PRIDE
HCD2_HUMAN_184 8 184 191 DLAPIGIR PRIDE
HCD2_HUMAN_192 20 192 211 VMTIAPGLFGTPLLTSLPEK PRIDE
HCD2_HUMAN_212 14 212 225 VCNFLASQVPFPSR PRIDE
HCD2_HUMAN_226 26 226 251 LGDPAEYAHLVQAIIENPFLNGEVIR PRIDE
HCD2_HUMAN_29 23 29 51 LVGQGASAVLLDLPNSGGEAQAK PRIDE
HCD2_HUMAN_52 27 52 78 KLGNNCVFAPADVTSEKDVQTALALAK PRIDE
HCD2_HUMAN_53 26 53 78 LGNNCVFAPADVTSEKDVQTALALAK PRIDE
HCD2_HUMAN_81 18 81 98 FGRVDVAVNCAGIAVASK PRIDE
HCD2_HUMAN_84 15 84 98 VDVAVNCAGIAVASK PRIDE
HCD2_HUMAN_9 20 9 28 GLVAVITGGASGLGLATAER PRIDE
PAp00002922 20 80 99 GKFGRVDVAVNCAGIAVASK 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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