AutismKB 2.0

Annotation Detail for GTF2I


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Basic Information Top
Gene Symbol:GTF2I ( BAP135,BTKAP1,DIWS,FLJ38776,FLJ56355,GTFII-I,IB291,SPIN,TFII-I,WBS,WBSCR6 )
Gene Full Name: general transcription factor IIi
Band: 7q11.23
Quick LinksEntrez ID:2969; OMIM: 601679; Uniprot ID:GTF2I_HUMAN; ENSEMBL ID: ENSG00000077809; HGNC ID: 4659
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 body17 / 70761240
blastocyst21 / 62319336
fetus74 / 564012131
neonate2 / 3109764
infant2 / 2362084
juvenile4 / 5555671
adult197 / 1939121101
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor13 / 94178138
cervical tumor5 / 34366145
chondrosarcoma2 / 8282324
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor53 / 263845200
glioma9 / 10688384
head and neck tumor40 / 136302293
kidney tumor3 / 6895943
leukemia8 / 9584283
liver tumor9 / 9635993
lung tumor4 / 10312738
lymphoma5 / 7175569
non-neoplasia11 / 97250113
normal377 / 3360307112
ovarian tumor10 / 76682130
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer4 / 10268038
retinoblastoma13 / 46356280
skin tumor9 / 12494972
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites4 / 4001599
bladder5 / 29757168
blood8 / 12347864
bone3 / 7165541
bone marrow2 / 4880140
brain159 / 1100989144
cervix5 / 48171103
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue59 / 215722273
esophagus0 / 202090 
eye32 / 211054151
heart3 / 8962633
intestine17 / 23447272
kidney15 / 21177770
larynx7 / 24145289
liver12 / 20774357
lung20 / 33697459
lymph5 / 44270112
lymph node25 / 91610272
mammary gland21 / 153271137
mouth26 / 67052387
muscle1 / 1077159
nerve2 / 15768126
ovary10 / 10205197
pancreas9 / 21481241
parathyroid4 / 20539194
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta22 / 28082578
prostate7 / 18934536
salivary gland0 / 201550 
skin18 / 21057485
spleen1 / 5395218
stomach3 / 9661931
testis67 / 330442202
thymus12 / 81131147
thyroid8 / 47473168
tonsil2 / 16999117
trachea19 / 52413362
umbilical cord1 / 1368073
uterus26 / 232878111
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210891_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts626.15
Adipocyte451
AdrenalCortex365.05
Adrenalgland346.9
Amygdala2001.55
Appendix117.45
AtrioventricularNode114.15
BDCA4+_DentriticCells981.3
Bonemarrow172.35
BronchialEpithelialCells297.75
CD105+_Endothelial746.3
CD14+_Monocytes688.45
CD19+_BCells(neg._sel.)698.25
CD33+_Myeloid947.45
CD34+1415.45
CD4+_Tcells774.85
CD56+_NKCells861.8
CD71+_EarlyErythroid573.5
CD8+_Tcells768.25
CardiacMyocytes260.6
Caudatenucleus743.25
Cerebellum638.6
CerebellumPeduncles706.95
CiliaryGanglion143.6
CingulateCortex1112.75
Colorectaladenocarcinoma1517.1
DorsalRootGanglion232.2
FetalThyroid624.5
Fetalbrain1694.15
Fetalliver159.2
Fetallung529.3
GlobusPallidus625.3
Heart176.2
Hypothalamus1669.7
Kidney226.4
Leukemia_chronicMyelogenousK-562341.85
Leukemia_promyelocytic-HL-60196.9
Leukemialymphoblastic(MOLT-4)449
Liver100.35
Lung381.25
Lymphnode300
Lymphoma_burkitts(Daudi)463.7
Lymphoma_burkitts(Raji)691.05
MedullaOblongata882.65
OccipitalLobe910.85
OlfactoryBulb718
Ovary105.8
Pancreas311.15
PancreaticIslet462.8
ParietalLobe849.95
Pituitary874.85
Placenta744.9
Pons595.7
PrefrontalCortex2455.45
Prostate1024.85
Salivarygland531.1
SkeletalMuscle64.35
Skin139.8
SmoothMuscle484.55
Spinalcord1132.85
SubthalamicNucleus647.6
SuperiorCervicalGanglion52.5
TemporalLobe500.8
Testis217.95
TestisGermCell461.65
TestisIntersitial202.25
TestisLeydigCell116.05
TestisSeminiferousTubule210.75
Thalamus885.55
Thymus416.6
Thyroid1466.8
Tongue276.35
Tonsil281.6
Trachea307
TrigeminalGanglion125.6
Uterus929.45
UterusCorpus186.65
WholeBlood946.7
Wholebrain1350.1
colon436.1
pineal_day2600.94
pineal_night2873.18
retina1010.375
small_intestine440.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P112110
  • 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
Amygdala7.9 ± 0.21
Basal Forebrain7.77 ± 0.09
Basal Part of Pons7.47 ± 0.26
Cerebellar Cortex7.74 ± 0.3
Cerebellar Nuclei7.74 ± 0.27
Claustrum7.68 ± 0.32
Epithalamus7.93 ± 0.24
Frontal Lobe7.6 ± 0.28
Globus Pallidus8.05 ± 0.14
Hypothalamus7.61 ± 0.54
Insula7.72 ± 0.21
Limbic Lobe7.81 ± 0.3
Mesencephalon7.73 ± 0.25
Myelencephalon7.7 ± 0.29
Occipital Lobe7.93 ± 0.25
Parietal Lobe7.75 ± 0.36
Pontine Tegmentum7.77 ± 0.28
Striatum7.87 ± 0.33
Subthalamus7.7 ± 0.11
Temporal Lobe7.67 ± 0.28
Thalamus7.69 ± 0.27
White Matter8.62 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gtf2iCBCerebellum43.39
65.46
Gtf2iCTXCerebral cortex100
79.54
Gtf2iHIPHippocampal region71.51
100
Gtf2iHPFHippocampal formation84.42
96.09
Gtf2iHYHypothalamus100
84.17
Gtf2iLSXLateral septal complex92.13
69.79
Gtf2iMBMidbrain63.18
53.66
Gtf2iMYMedulla61.92
63.84
Gtf2iOLFOlfactory bulb100
97.14
Gtf2iPPons53.47
51.09
Gtf2iPALPallidum83.25
70.77
Gtf2iRHPRetrohippocampal region98.05
87.81
Gtf2isAMYStriatum-like amygdalar nuclei100
84.79
Gtf2iSTRStriatum66.27
44.12
Gtf2iSTRdStriatum dorsal region48.72
31.75
Gtf2iSTRvStriatum ventral region89.55
54.9
Gtf2iTHThalamus79.34
72.19
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GTF2I_HUMAN_187 12 187 198 PFLEPKKHVGGR PRIDE
GTF2I_HUMAN_2 19 2 20 AQVAMSTLPVEDEESSESR PRIDE
GTF2I_HUMAN_20 15 20 34 MVVTFLMSALESMCK PRIDE
PAp00008473 23 199 221 VMVTDADRSILSPGGSCGPIKVK 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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