AutismKB 2.0

Annotation Detail for ZBTB48


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ZBTB48 ( HKR3,ZNF855,pp9964 )
Gene Full Name: zinc finger and BTB domain containing 48
Band: 1p36.31
Quick LinksEntrez ID:3104; OMIM: 165270; Uniprot ID:ZBT48_HUMAN; ENSEMBL ID: ENSG00000204859; HGNC ID: 4930
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 body1 / 7076114
blastocyst0 / 623190 
fetus12 / 56401221
neonate2 / 3109764
infant0 / 236200 
juvenile4 / 5555671
adult38 / 193912119
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 tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma5 / 7175569
non-neoplasia2 / 9725020
normal77 / 336030722
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood6 / 12347848
bone2 / 7165527
bone marrow3 / 4880161
brain25 / 110098922
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye3 / 21105414
heart2 / 8962622
intestine4 / 23447217
kidney7 / 21177733
larynx0 / 241450 
liver3 / 20774314
lung11 / 33697432
lymph1 / 4427022
lymph node1 / 9161010
mammary gland3 / 15327119
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary3 / 10205129
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate8 / 18934542
salivary gland1 / 2015549
skin1 / 2105744
spleen4 / 5395274
stomach2 / 9661920
testis8 / 33044224
thymus3 / 8113136
thyroid1 / 4747321
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205025_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.85
Adipocyte10.7
AdrenalCortex11.35
Adrenalgland11.6
Amygdala11.4
Appendix7.55
AtrioventricularNode8.2
BDCA4+_DentriticCells16.8
Bonemarrow10.75
BronchialEpithelialCells10.7
CD105+_Endothelial8.7
CD14+_Monocytes37.6
CD19+_BCells(neg._sel.)13.1
CD33+_Myeloid23
CD34+15
CD4+_Tcells37.75
CD56+_NKCells15.75
CD71+_EarlyErythroid10.2
CD8+_Tcells20.5
CardiacMyocytes14.2
Caudatenucleus9.8
Cerebellum9.6
CerebellumPeduncles15.7
CiliaryGanglion6.25
CingulateCortex11.3
Colorectaladenocarcinoma11.1
DorsalRootGanglion7.85
FetalThyroid10.65
Fetalbrain10.85
Fetalliver9.65
Fetallung9.1
GlobusPallidus5.85
Heart21.5
Hypothalamus11.65
Kidney10.3
Leukemia_chronicMyelogenousK-56213.05
Leukemia_promyelocytic-HL-6024.8
Leukemialymphoblastic(MOLT-4)14.25
Liver48.95
Lung40.7
Lymphnode9.45
Lymphoma_burkitts(Daudi)29.95
Lymphoma_burkitts(Raji)24.05
MedullaOblongata8.35
OccipitalLobe8.45
OlfactoryBulb8.1
Ovary7.15
Pancreas8.8
PancreaticIslet11.7
ParietalLobe11.55
Pituitary13.8
Placenta10.1
Pons10.35
PrefrontalCortex14.1
Prostate36.15
Salivarygland8.75
SkeletalMuscle12.4
Skin6.15
SmoothMuscle11
Spinalcord11.8
SubthalamicNucleus9.35
SuperiorCervicalGanglion9.55
TemporalLobe7.1
Testis22.85
TestisGermCell21.9
TestisIntersitial9.25
TestisLeydigCell13.2
TestisSeminiferousTubule11.95
Thalamus11.1
Thymus18.3
Thyroid41.9
Tongue7.8
Tonsil10
Trachea9.2
TrigeminalGanglion10.8
Uterus8.8
UterusCorpus7.35
WholeBlood15.75
Wholebrain9.85
colon11
pineal_day11.12
pineal_night10.58
retina14.3
small_intestine10.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13203_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
Amygdala2.56 ± 0.86
Basal Forebrain2.02 ± 0.48
Basal Part of Pons2.41 ± 0.73
Cerebellar Cortex2.5 ± 0.7
Cerebellar Nuclei2.32 ± 0.42
Claustrum2.82 ± 0.9
Epithalamus1.99 ± 0.89
Frontal Lobe2.22 ± 0.71
Globus Pallidus2.32 ± 0.86
Hypothalamus2.5 ± 0.41
Insula2.11 ± 0.48
Limbic Lobe2.47 ± 0.77
Mesencephalon2.21 ± 0.85
Myelencephalon2.37 ± 0.67
Occipital Lobe2.19 ± 0.9
Parietal Lobe2.46 ± 0.8
Pontine Tegmentum2.29 ± 0.75
Striatum2.34 ± 0.66
Subthalamus2.04 ± 0.56
Temporal Lobe2.21 ± 0.75
Thalamus2.15 ± 0.64
White Matter2.43 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hkr3CBCerebellum15.39
14.02
Hkr3CTXCerebral cortex17.68
10
Hkr3HIPHippocampal region21.58
9.72
Hkr3HPFHippocampal formation19.58
10.33
Hkr3HYHypothalamus8.69
4.67
Hkr3LSXLateral septal complex6.96
4.12
Hkr3MBMidbrain7.46
5.1
Hkr3MYMedulla16.56
12.05
Hkr3OLFOlfactory bulb26
15.31
Hkr3PPons15.12
11.42
Hkr3PALPallidum10.6
6.79
Hkr3RHPRetrohippocampal region17.16
10.89
Hkr3sAMYStriatum-like amygdalar nuclei10.53
5.87
Hkr3STRStriatum5.96
3.15
Hkr3STRdStriatum dorsal region4.64
2.49
Hkr3STRvStriatum ventral region7.41
3.36
Hkr3THThalamus11.74
6.41
Peptide Top

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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved