AutismKB 2.0

Annotation Detail for HNF1B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HNF1B ( FJHN,HNF1beta,HNF2,HPC11,LF-B3,LFB3,MODY5,TCF2,VHNF1 )
Gene Full Name: HNF1 homeobox B
Band: 17q12
Quick LinksEntrez ID:6928; OMIM: 189907; Uniprot ID:HNF1B_HUMAN; ENSEMBL ID: ENSG00000108753; HGNC ID: 11630
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 
blastocyst0 / 623190 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult18 / 19391219
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal33 / 33603079
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
ascites2 / 4001549
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain6 / 11009895
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine10 / 23447242
kidney15 / 21177770
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205313_at
Cell line Expression level Expression bar
721_B_lymphoblasts46.9
Adipocyte27.85
AdrenalCortex42.1
Adrenalgland44.15
Amygdala27.95
Appendix54.6
AtrioventricularNode122.3
BDCA4+_DentriticCells18.9
Bonemarrow35.45
BronchialEpithelialCells22.3
CD105+_Endothelial14.2
CD14+_Monocytes11.1
CD19+_BCells(neg._sel.)18.05
CD33+_Myeloid15.35
CD34+12.7
CD4+_Tcells14.5
CD56+_NKCells11.8
CD71+_EarlyErythroid21.9
CD8+_Tcells12.95
CardiacMyocytes32.7
Caudatenucleus38.7
Cerebellum57.45
CerebellumPeduncles39.9
CiliaryGanglion50.3
CingulateCortex41.4
Colorectaladenocarcinoma26.25
DorsalRootGanglion50.85
FetalThyroid26.75
Fetalbrain35.95
Fetalliver30.3
Fetallung31
GlobusPallidus36.6
Heart36.7
Hypothalamus32.6
Kidney120.25
Leukemia_chronicMyelogenousK-56229.8
Leukemia_promyelocytic-HL-6023.85
Leukemialymphoblastic(MOLT-4)26.05
Liver39.55
Lung35.9
Lymphnode28.6
Lymphoma_burkitts(Daudi)36.9
Lymphoma_burkitts(Raji)38.65
MedullaOblongata48.5
OccipitalLobe30.05
OlfactoryBulb29.25
Ovary19.75
Pancreas44.2
PancreaticIslet231.5
ParietalLobe52.65
Pituitary46.25
Placenta26.9
Pons45.65
PrefrontalCortex32.15
Prostate38
Salivarygland32.7
SkeletalMuscle66.95
Skin46.8
SmoothMuscle19.1
Spinalcord50.9
SubthalamicNucleus60.25
SuperiorCervicalGanglion52.6
TemporalLobe56.75
Testis39.55
TestisGermCell31.55
TestisIntersitial28.65
TestisLeydigCell49.4
TestisSeminiferousTubule41.95
Thalamus32.55
Thymus21.05
Thyroid33.45
Tongue28.4
Tonsil44.25
Trachea40.6
TrigeminalGanglion43.4
Uterus20.65
UterusCorpus30.95
WholeBlood26.25
Wholebrain24.1
colon36.9
pineal_day31.22
pineal_night22.3
retina35.1
small_intestine34.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P330822
  • 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
Amygdala2.53 ± 0.94
Basal Forebrain2.28 ± 0.46
Basal Part of Pons1.91 ± 0.57
Cerebellar Cortex1.82 ± 0.63
Cerebellar Nuclei2.44 ± 0.56
Claustrum2.6 ± 0.86
Epithalamus1.49 ± 0.69
Frontal Lobe2.01 ± 0.73
Globus Pallidus2.72 ± 1
Hypothalamus1.73 ± 0.6
Insula1.83 ± 0.84
Limbic Lobe2.19 ± 0.79
Mesencephalon2.04 ± 0.7
Myelencephalon2.13 ± 0.77
Occipital Lobe2.13 ± 0.86
Parietal Lobe2.05 ± 0.67
Pontine Tegmentum2.03 ± 0.76
Striatum2.35 ± 0.84
Subthalamus1.8 ± 0.63
Temporal Lobe2.01 ± 0.84
Thalamus2 ± 0.76
White Matter1.7 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tcf2CBCerebellum22.8
17.4
Tcf2CTXCerebral cortex21.22
13.45
Tcf2HIPHippocampal region24.41
16.21
Tcf2HPFHippocampal formation24.12
15.73
Tcf2HYHypothalamus9.32
5.84
Tcf2LSXLateral septal complex2.58
1.31
Tcf2MBMidbrain8.41
5.63
Tcf2MYMedulla22.08
17.18
Tcf2OLFOlfactory bulb29.07
17.15
Tcf2PPons16.21
12
Tcf2PALPallidum6.33
4.48
Tcf2RHPRetrohippocampal region22.19
13.91
Tcf2sAMYStriatum-like amygdalar nuclei32.48
19.37
Tcf2STRStriatum10.35
5.99
Tcf2STRdStriatum dorsal region7.56
4.3
Tcf2STRvStriatum ventral region14.19
7.77
Tcf2THThalamus7.24
4.47
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