AutismKB 2.0

Annotation Detail for GTF2H1


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Basic Information Top
Gene Symbol:GTF2H1 ( BTF2,TFB1,TFIIH )
Gene Full Name: general transcription factor IIH, polypeptide 1, 62kDa
Band: 11p15.1
Quick LinksEntrez ID:2965; OMIM: 189972; Uniprot ID:TF2H1_HUMAN; ENSEMBL ID: ENSG00000110768; HGNC ID: 4655
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
blastocyst1 / 6231916
fetus68 / 564012120
neonate3 / 3109796
infant7 / 23620296
juvenile8 / 55556143
adult106 / 193912154
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor6 / 9417863
cervical tumor3 / 3436687
chondrosarcoma8 / 8282396
colorectal tumor4 / 11424635
esophageal tumor4 / 17290231
gastrointestinal tumor8 / 11936967
germ cell tumor28 / 263845106
glioma9 / 10688384
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia6 / 9584262
liver tumor4 / 9635941
lung tumor3 / 10312729
lymphoma8 / 71755111
non-neoplasia11 / 97250113
normal283 / 336030784
ovarian tumor5 / 7668265
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor9 / 12494972
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites3 / 4001574
bladder5 / 29757168
blood7 / 12347856
bone9 / 71655125
bone marrow5 / 48801102
brain108 / 110098998
cervix3 / 4817162
connective tissue16 / 149255107
ear1 / 1621261
embryonic tissue5 / 21572223
esophagus4 / 20209197
eye19 / 21105490
heart9 / 89626100
intestine9 / 23447238
kidney21 / 21177799
larynx0 / 241450 
liver9 / 20774343
lung18 / 33697453
lymph2 / 4427045
lymph node10 / 91610109
mammary gland10 / 15327165
mouth6 / 6705289
muscle1 / 1077159
nerve3 / 15768190
ovary7 / 10205168
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate15 / 18934579
salivary gland0 / 201550 
skin24 / 210574113
spleen5 / 5395292
stomach7 / 9661972
testis38 / 330442114
thymus9 / 81131110
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus21 / 23287890
vascular14 / 51780270
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202453_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts64.9
Adipocyte9.8
AdrenalCortex7.85
Adrenalgland6.25
Amygdala7.75
Appendix7.5
AtrioventricularNode5.8
BDCA4+_DentriticCells10.95
Bonemarrow7.3
BronchialEpithelialCells22.3
CD105+_Endothelial7.7
CD14+_Monocytes12.65
CD19+_BCells(neg._sel.)12.75
CD33+_Myeloid10.3
CD34+15.65
CD4+_Tcells15.95
CD56+_NKCells8.95
CD71+_EarlyErythroid7.45
CD8+_Tcells12.7
CardiacMyocytes10.9
Caudatenucleus6.7
Cerebellum6.1
CerebellumPeduncles8.5
CiliaryGanglion5.2
CingulateCortex7.55
Colorectaladenocarcinoma7.55
DorsalRootGanglion5.7
FetalThyroid7.25
Fetalbrain7.55
Fetalliver6.5
Fetallung6.05
GlobusPallidus5.55
Heart9.35
Hypothalamus8.15
Kidney6
Leukemia_chronicMyelogenousK-5627.2
Leukemia_promyelocytic-HL-607
Leukemialymphoblastic(MOLT-4)6.3
Liver9.8
Lung6.9
Lymphnode6.55
Lymphoma_burkitts(Daudi)16.1
Lymphoma_burkitts(Raji)10.4
MedullaOblongata6.9
OccipitalLobe9.45
OlfactoryBulb5.9
Ovary4.95
Pancreas6
PancreaticIslet8
ParietalLobe7.95
Pituitary8.85
Placenta7.55
Pons7.15
PrefrontalCortex8.65
Prostate8.05
Salivarygland7.3
SkeletalMuscle8.85
Skin5.8
SmoothMuscle13.8
Spinalcord7.95
SubthalamicNucleus7.65
SuperiorCervicalGanglion8.45
TemporalLobe6.8
Testis6.8
TestisGermCell23.25
TestisIntersitial23.4
TestisLeydigCell17.65
TestisSeminiferousTubule9.35
Thalamus7.55
Thymus5.9
Thyroid9.35
Tongue7.35
Tonsil9.05
Trachea6.45
TrigeminalGanglion7.45
Uterus6.05
UterusCorpus8.7
WholeBlood8.3
Wholebrain5
colon7.45
pineal_day10.36
pineal_night9.28
retina8.65
small_intestine7.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P36183
  • 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
Amygdala7.71 ± 0.29
Basal Forebrain7.42 ± 0.19
Basal Part of Pons7.56 ± 0.31
Cerebellar Cortex7.39 ± 0.34
Cerebellar Nuclei7.48 ± 0.21
Claustrum7.9 ± 0.25
Epithalamus7.12 ± 0.27
Frontal Lobe7.49 ± 0.26
Globus Pallidus7.47 ± 0.14
Hypothalamus7.32 ± 0.24
Insula7.52 ± 0.23
Limbic Lobe7.62 ± 0.25
Mesencephalon7.49 ± 0.28
Myelencephalon7.45 ± 0.27
Occipital Lobe7.55 ± 0.24
Parietal Lobe7.52 ± 0.25
Pontine Tegmentum7.5 ± 0.26
Striatum7.45 ± 0.26
Subthalamus7.49 ± 0.11
Temporal Lobe7.51 ± 0.21
Thalamus7.43 ± 0.22
White Matter7.36 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gtf2h1CBCerebellum3.51
4
Gtf2h1CTXCerebral cortex13.6
9.72
Gtf2h1HIPHippocampal region20.26
19.13
Gtf2h1HPFHippocampal formation17.57
15.48
Gtf2h1HYHypothalamus5.12
3.94
Gtf2h1LSXLateral septal complex3.53
2.59
Gtf2h1MBMidbrain1.93
1.93
Gtf2h1MYMedulla3.31
5.24
Gtf2h1OLFOlfactory bulb22.75
19.92
Gtf2h1PPons4.57
7.2
Gtf2h1PALPallidum4.65
3.76
Gtf2h1RHPRetrohippocampal region11.68
9.38
Gtf2h1sAMYStriatum-like amygdalar nuclei15.15
14.13
Gtf2h1STRStriatum7.07
5.74
Gtf2h1STRdStriatum dorsal region3.23
2.05
Gtf2h1STRvStriatum ventral region15.82
12.81
Gtf2h1THThalamus4.2
3.1
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010634 30 321 350 KQEAQNEQTSEPSNMDGNSGDADCFQPAVK Peptide Atlas
TF2H1_HUMAN_2 15 2 16 ATSSEEVLLIVKKVR PRIDE

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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