AutismKB 2.0

Annotation Detail for HDHD1


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Basic Information Top
Gene Symbol:HDHD1 ( DXF68S1E,FAM16AX,GS1,HDHD1A )
Gene Full Name: haloacid dehalogenase-like hydrolase domain containing 1
Band: Xp22.32
Quick LinksEntrez ID:8226; OMIM: 306480; Uniprot ID:HDHD1_HUMAN; ENSEMBL ID: ENSG00000130021; HGNC ID:
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
fetus22 / 56401239
neonate4 / 31097128
infant2 / 2362084
juvenile7 / 55556125
adult90 / 193912146
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor21 / 26384579
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal182 / 336030754
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites3 / 4001574
bladder1 / 2975733
blood4 / 12347832
bone4 / 7165555
bone marrow1 / 4880120
brain35 / 110098931
cervix0 / 481710 
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye6 / 21105428
heart8 / 8962689
intestine9 / 23447238
kidney14 / 21177766
larynx0 / 241450 
liver3 / 20774314
lung18 / 33697453
lymph0 / 442700 
lymph node8 / 9161087
mammary gland8 / 15327152
mouth1 / 6705214
muscle7 / 10771564
nerve0 / 157680 
ovary4 / 10205139
pancreas0 / 2148120 
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta33 / 280825117
prostate3 / 18934515
salivary gland0 / 201550 
skin7 / 21057433
spleen3 / 5395255
stomach3 / 9661931
testis12 / 33044236
thymus2 / 8113124
thyroid2 / 4747342
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord1 / 1368073
uterus9 / 23287838
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203974_at
Cell line Expression level Expression bar
721_B_lymphoblasts772
Adipocyte10.25
AdrenalCortex10.5
Adrenalgland8.15
Amygdala11.15
Appendix10.85
AtrioventricularNode7.8
BDCA4+_DentriticCells29.65
Bonemarrow10.05
BronchialEpithelialCells86.4
CD105+_Endothelial17.7
CD14+_Monocytes109.35
CD19+_BCells(neg._sel.)29.25
CD33+_Myeloid107
CD34+14.9
CD4+_Tcells11.35
CD56+_NKCells16.45
CD71+_EarlyErythroid9.65
CD8+_Tcells10.7
CardiacMyocytes16.1
Caudatenucleus9.35
Cerebellum8.3
CerebellumPeduncles11.6
CiliaryGanglion7.1
CingulateCortex10.5
Colorectaladenocarcinoma10.4
DorsalRootGanglion7.75
FetalThyroid10.8
Fetalbrain10.45
Fetalliver11.4
Fetallung9.9
GlobusPallidus7.45
Heart12.9
Hypothalamus18.4
Kidney8.25
Leukemia_chronicMyelogenousK-56241.95
Leukemia_promyelocytic-HL-6025.45
Leukemialymphoblastic(MOLT-4)9.95
Liver13.5
Lung11.6
Lymphnode8.85
Lymphoma_burkitts(Daudi)13.3
Lymphoma_burkitts(Raji)14.35
MedullaOblongata9.55
OccipitalLobe9.35
OlfactoryBulb8.35
Ovary6.8
Pancreas11.55
PancreaticIslet11.05
ParietalLobe10.7
Pituitary12.1
Placenta91.15
Pons14.55
PrefrontalCortex17.85
Prostate15.6
Salivarygland8.15
SkeletalMuscle11.7
Skin7.85
SmoothMuscle12
Spinalcord11.1
SubthalamicNucleus9.3
SuperiorCervicalGanglion11.4
TemporalLobe9.4
Testis9
TestisGermCell8.8
TestisIntersitial8.65
TestisLeydigCell10.2
TestisSeminiferousTubule8.85
Thalamus11
Thymus8.5
Thyroid13.3
Tongue10.75
Tonsil10.05
Trachea8.65
TrigeminalGanglion16.85
Uterus8.6
UterusCorpus9.1
WholeBlood24.2
Wholebrain9.05
colon19.9
pineal_day12.2
pineal_night12.7
retina12.625
small_intestine21.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7457_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
Amygdala5.31 ± 0.33
Basal Forebrain5.31 ± 0.27
Basal Part of Pons5.51 ± 0.32
Cerebellar Cortex5.57 ± 0.28
Cerebellar Nuclei5.19 ± 0.32
Claustrum5.54 ± 0.52
Epithalamus5.11 ± 0.29
Frontal Lobe5.15 ± 0.38
Globus Pallidus5.39 ± 0.58
Hypothalamus5.5 ± 0.42
Insula5.12 ± 0.46
Limbic Lobe5.23 ± 0.49
Mesencephalon5.29 ± 0.45
Myelencephalon5.21 ± 0.43
Occipital Lobe5.45 ± 0.41
Parietal Lobe5.32 ± 0.5
Pontine Tegmentum5.3 ± 0.41
Striatum5.37 ± 0.41
Subthalamus5.07 ± 0.46
Temporal Lobe5.19 ± 0.33
Thalamus5.27 ± 0.36
White Matter6.08 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hdhd1aCBCerebellum0.17
0.31
Hdhd1aCTXCerebral cortex0.36
0.53
Hdhd1aHIPHippocampal region0.38
0.47
Hdhd1aHPFHippocampal formation0.33
0.37
Hdhd1aHYHypothalamus0.18
0.25
Hdhd1aLSXLateral septal complex0.03
0
Hdhd1aMBMidbrain0.11
0.18
Hdhd1aMYMedulla0.23
0.34
Hdhd1aOLFOlfactory bulb0.32
0.85
Hdhd1aPPons0.19
0.32
Hdhd1aPALPallidum0.04
0.03
Hdhd1aRHPRetrohippocampal region0.22
0.23
Hdhd1asAMYStriatum-like amygdalar nuclei0.09
0.1
Hdhd1aSTRStriatum0.04
0.04
Hdhd1aSTRdStriatum dorsal region0
0
Hdhd1aSTRvStriatum ventral region0.16
0.11
Hdhd1aTHThalamus0.2
0.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00488397 21 4 24 PPQPVTHLIFDMDGLLLDTER 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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