AutismKB 2.0

Annotation Detail for HMBS


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Basic Information Top
Gene Symbol:HMBS ( PBG-D,PBGD,PORC,UPS )
Gene Full Name: hydroxymethylbilane synthase
Band: 11q23.3
Quick LinksEntrez ID:3145; OMIM: 609806; Uniprot ID:HEM3_HUMAN; ENSEMBL ID: ENSG00000149397; HGNC ID: 4982
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 body4 / 7076156
blastocyst4 / 6231964
fetus39 / 56401269
neonate0 / 310970 
infant0 / 236200 
juvenile6 / 55556107
adult100 / 193912151
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 tumor3 / 3436687
chondrosarcoma8 / 8282396
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor16 / 119369134
germ cell tumor14 / 26384553
glioma4 / 10688337
head and neck tumor4 / 13630229
kidney tumor4 / 6895958
leukemia10 / 95842104
liver tumor8 / 9635983
lung tumor12 / 103127116
lymphoma19 / 71755264
non-neoplasia2 / 9725020
normal142 / 336030742
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS19 / 125680151
prostate cancer16 / 102680155
retinoblastoma18 / 46356388
skin tumor11 / 12494988
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites9 / 40015224
bladder0 / 297570 
blood10 / 12347880
bone8 / 71655111
bone marrow7 / 48801143
brain28 / 110098925
cervix6 / 48171124
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye22 / 211054104
heart1 / 8962611
intestine14 / 23447259
kidney15 / 21177770
larynx1 / 2414541
liver19 / 20774391
lung30 / 33697489
lymph15 / 44270338
lymph node3 / 9161032
mammary gland7 / 15327145
mouth1 / 6705214
muscle2 / 10771518
nerve1 / 1576863
ovary8 / 10205178
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta8 / 28082528
prostate23 / 189345121
salivary gland0 / 201550 
skin11 / 21057452
spleen3 / 5395255
stomach8 / 9661982
testis10 / 33044230
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203040_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts45.55
Adipocyte6.2
AdrenalCortex5
Adrenalgland3.95
Amygdala4.55
Appendix6.15
AtrioventricularNode3.85
BDCA4+_DentriticCells8.65
Bonemarrow206.2
BronchialEpithelialCells21.6
CD105+_Endothelial523.1
CD14+_Monocytes6.5
CD19+_BCells(neg._sel.)6.9
CD33+_Myeloid6.15
CD34+24.95
CD4+_Tcells5.95
CD56+_NKCells6
CD71+_EarlyErythroid2471
CD8+_Tcells5.15
CardiacMyocytes5.9
Caudatenucleus4.05
Cerebellum3.65
CerebellumPeduncles5.1
CiliaryGanglion3.25
CingulateCortex4.6
Colorectaladenocarcinoma16
DorsalRootGanglion4.05
FetalThyroid10.9
Fetalbrain4.45
Fetalliver336.35
Fetallung27.3
GlobusPallidus3.4
Heart8.8
Hypothalamus5.25
Kidney3.75
Leukemia_chronicMyelogenousK-56243.3
Leukemia_promyelocytic-HL-6024.2
Leukemialymphoblastic(MOLT-4)9.3
Liver10.4
Lung5.4
Lymphnode4.1
Lymphoma_burkitts(Daudi)18.7
Lymphoma_burkitts(Raji)24.6
MedullaOblongata4.45
OccipitalLobe3.85
OlfactoryBulb4
Ovary3.2
Pancreas3.8
PancreaticIslet5.05
ParietalLobe4.9
Pituitary5.55
Placenta4.65
Pons4.75
PrefrontalCortex5.5
Prostate5.95
Salivarygland4.2
SkeletalMuscle9.75
Skin4.4
SmoothMuscle6.1
Spinalcord5.05
SubthalamicNucleus4.25
SuperiorCervicalGanglion12.05
TemporalLobe4.3
Testis4.1
TestisGermCell3.85
TestisIntersitial4
TestisLeydigCell5.6
TestisSeminiferousTubule6.9
Thalamus4.5
Thymus4.55
Thyroid5.8
Tongue6.5
Tonsil5.7
Trachea3.85
TrigeminalGanglion7.2
Uterus3.95
UterusCorpus4.85
WholeBlood5.05
Wholebrain4.15
colon6.45
pineal_day8.66
pineal_night8.92
retina5.8
small_intestine6.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15950_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
Amygdala3.06 ± 0.79
Basal Forebrain2.59 ± 0.45
Basal Part of Pons3.13 ± 0.66
Cerebellar Cortex3 ± 0.51
Cerebellar Nuclei2.88 ± 0.66
Claustrum2.97 ± 0.63
Epithalamus2.89 ± 0.78
Frontal Lobe2.9 ± 0.72
Globus Pallidus3.06 ± 0.8
Hypothalamus2.88 ± 0.4
Insula2.59 ± 0.72
Limbic Lobe2.56 ± 0.72
Mesencephalon2.81 ± 0.8
Myelencephalon2.8 ± 0.66
Occipital Lobe2.51 ± 0.71
Parietal Lobe2.8 ± 0.67
Pontine Tegmentum2.71 ± 0.63
Striatum2.57 ± 0.65
Subthalamus2.81 ± 0.83
Temporal Lobe2.75 ± 0.64
Thalamus2.86 ± 0.64
White Matter3.73 ± 0.52
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
HmbsCBCerebellum3.51
3.24
HmbsCTXCerebral cortex1.71
0.86
HmbsHIPHippocampal region2.16
1.79
HmbsHPFHippocampal formation1.69
1.3
HmbsHYHypothalamus0.2
0.16
HmbsLSXLateral septal complex0.03
0
HmbsMBMidbrain0.76
0.69
HmbsMYMedulla1.99
1.48
HmbsOLFOlfactory bulb4.58
3.48
HmbsPPons1.06
0.72
HmbsPALPallidum0.21
0.11
HmbsRHPRetrohippocampal region0.9
0.63
HmbssAMYStriatum-like amygdalar nuclei0.21
0.33
HmbsSTRStriatum0.7
0.27
HmbsSTRdStriatum dorsal region0.94
0.32
HmbsSTRvStriatum ventral region0.39
0.19
HmbsTHThalamus0.39
0.28
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HEM3_HUMAN_2 18 2 19 SGNGNAAATAEENSPKMR PRIDE
HEM3_HUMAN_225 21 225 245 AKDQDILDLVGVLHDPETLLR PRIDE
HEM3_HUMAN_325 20 325 344 GPQLAAQNLGISLANLLLSK PRIDE
PAp00063499 21 226 246 AKDQDILDLVGVLHDPETLLR 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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