AutismKB 2.0

Annotation Detail for HMBOX1


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Basic Information Top
Gene Symbol:HMBOX1 ( FLJ21616,HNF1LA,PBHNF )
Gene Full Name: homeobox containing 1
Band: 8p21.1-p12
Quick LinksEntrez ID:79618; OMIM: NA; Uniprot ID:HMBX1_HUMAN; ENSEMBL ID: ENSG00000147421; HGNC ID: 26137
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 body0 / 707610 
blastocyst1 / 6231916
fetus28 / 56401249
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult42 / 193912121
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal86 / 336030725
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder1 / 2975733
blood3 / 12347824
bone4 / 7165555
bone marrow0 / 488010 
brain22 / 110098919
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine5 / 23447221
kidney3 / 21177714
larynx0 / 241450 
liver2 / 2077439
lung3 / 3369748
lymph0 / 442700 
lymph node4 / 9161043
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta11 / 28082539
prostate3 / 18934515
salivary gland1 / 2015549
skin4 / 21057418
spleen0 / 539520 
stomach1 / 9661910
testis11 / 33044233
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219269_at
Cell line Expression level Expression bar
721_B_lymphoblasts42.4
Adipocyte18.6
AdrenalCortex71
Adrenalgland57.15
Amygdala15.4
Appendix47.2
AtrioventricularNode49.75
BDCA4+_DentriticCells112.55
Bonemarrow18.2
BronchialEpithelialCells11.7
CD105+_Endothelial27.8
CD14+_Monocytes20.15
CD19+_BCells(neg._sel.)84.35
CD33+_Myeloid109
CD34+139.45
CD4+_Tcells125.9
CD56+_NKCells23.95
CD71+_EarlyErythroid11.7
CD8+_Tcells90.75
CardiacMyocytes14.85
Caudatenucleus11.7
Cerebellum14.2
CerebellumPeduncles45.25
CiliaryGanglion10.95
CingulateCortex45.35
Colorectaladenocarcinoma14.15
DorsalRootGanglion28.75
FetalThyroid41.4
Fetalbrain13.75
Fetalliver24.4
Fetallung9.3
GlobusPallidus12.95
Heart16.35
Hypothalamus15.4
Kidney12.8
Leukemia_chronicMyelogenousK-56211.85
Leukemia_promyelocytic-HL-6010.25
Leukemialymphoblastic(MOLT-4)9.85
Liver17.9
Lung21.7
Lymphnode11.85
Lymphoma_burkitts(Daudi)18.05
Lymphoma_burkitts(Raji)13.85
MedullaOblongata25.65
OccipitalLobe46
OlfactoryBulb106.4
Ovary15.9
Pancreas19.8
PancreaticIslet30.55
ParietalLobe78.55
Pituitary65.25
Placenta110.05
Pons14.15
PrefrontalCortex102.7
Prostate32.55
Salivarygland40.55
SkeletalMuscle22.2
Skin30.9
SmoothMuscle14.05
Spinalcord21.45
SubthalamicNucleus16.55
SuperiorCervicalGanglion54.4
TemporalLobe12.45
Testis21.95
TestisGermCell60.15
TestisIntersitial76.3
TestisLeydigCell65.05
TestisSeminiferousTubule57.7
Thalamus12.95
Thymus19
Thyroid14.15
Tongue17.85
Tonsil27
Trachea12.8
TrigeminalGanglion60.05
Uterus21.55
UterusCorpus22.1
WholeBlood14.3
Wholebrain13.35
colon20.5
pineal_day123.12
pineal_night138.9
retina83.5
small_intestine18.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P134684
  • 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
Amygdala10.25 ± 0.2
Basal Forebrain10.61 ± 0.24
Basal Part of Pons10.28 ± 0.16
Cerebellar Cortex10.34 ± 0.13
Cerebellar Nuclei10.72 ± 0.27
Claustrum10.19 ± 0.26
Epithalamus10.7 ± 0.2
Frontal Lobe10.41 ± 0.33
Globus Pallidus11.4 ± 0.16
Hypothalamus10.72 ± 0.26
Insula10.39 ± 0.25
Limbic Lobe10.17 ± 0.34
Mesencephalon10.72 ± 0.29
Myelencephalon10.47 ± 0.3
Occipital Lobe10.49 ± 0.27
Parietal Lobe10.47 ± 0.27
Pontine Tegmentum10.46 ± 0.31
Striatum10.53 ± 0.31
Subthalamus10.75 ± 0.07
Temporal Lobe10.29 ± 0.23
Thalamus10.57 ± 0.21
White Matter11.1 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hmbox1CBCerebellum39.23
47.1
Hmbox1CTXCerebral cortex89.1
66.86
Hmbox1HIPHippocampal region82.88
100
Hmbox1HPFHippocampal formation91.1
100
Hmbox1HYHypothalamus46.54
38.76
Hmbox1LSXLateral septal complex23.51
22.49
Hmbox1MBMidbrain56.63
58.81
Hmbox1MYMedulla70.25
98.29
Hmbox1OLFOlfactory bulb100
100
Hmbox1PPons65.18
76.17
Hmbox1PALPallidum52.7
56.81
Hmbox1RHPRetrohippocampal region100
93.73
Hmbox1sAMYStriatum-like amygdalar nuclei61.02
47.68
Hmbox1STRStriatum63.54
45.63
Hmbox1STRdStriatum dorsal region68.77
48.38
Hmbox1STRvStriatum ventral region63.52
43.72
Hmbox1THThalamus62.12
56.03
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00069277 12 41 52 HEILHALETLDR 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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