AutismKB 2.0

Annotation Detail for GTF2IRD1


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Basic Information Top
Gene Symbol:GTF2IRD1 ( BEN,CREAM1,GTF3,MUSTRD1,RBAP2,WBS,WBSCR11,WBSCR12,hMusTRD1alpha1 )
Gene Full Name: GTF2I repeat domain containing 1
Band: 7q11.23
Quick LinksEntrez ID:9569; OMIM: 604318; Uniprot ID:GT2D1_HUMAN; ENSEMBL ID: ENSG00000006704; HGNC ID: 4661
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 body3 / 7076142
blastocyst2 / 6231932
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult78 / 193912140
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor13 / 94178138
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor11 / 11424696
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma3 / 10688328
head and neck tumor6 / 13630244
kidney tumor4 / 6895958
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal60 / 336030717
ovarian tumor9 / 76682117
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone5 / 7165569
bone marrow0 / 488010 
brain18 / 110098916
cervix6 / 48171124
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye12 / 21105456
heart0 / 896260 
intestine14 / 23447259
kidney7 / 21177733
larynx1 / 2414541
liver1 / 2077434
lung12 / 33697435
lymph0 / 442700 
lymph node0 / 916100 
mammary gland14 / 15327191
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary10 / 10205197
pancreas2 / 2148129
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate5 / 18934526
salivary gland1 / 2015549
skin10 / 21057447
spleen0 / 539520 
stomach1 / 9661910
testis2 / 3304426
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218412_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.5
Adipocyte5.45
AdrenalCortex5.55
Adrenalgland4.55
Amygdala5.65
Appendix5.9
AtrioventricularNode4.05
BDCA4+_DentriticCells5.65
Bonemarrow4.95
BronchialEpithelialCells6.1
CD105+_Endothelial5.35
CD14+_Monocytes5.6
CD19+_BCells(neg._sel.)5.15
CD33+_Myeloid5.8
CD34+6.2
CD4+_Tcells5.45
CD56+_NKCells6.15
CD71+_EarlyErythroid4.65
CD8+_Tcells4.95
CardiacMyocytes7.15
Caudatenucleus4.45
Cerebellum4.4
CerebellumPeduncles6.15
CiliaryGanglion3.8
CingulateCortex5.5
Colorectaladenocarcinoma65.6
DorsalRootGanglion4.3
FetalThyroid14.95
Fetalbrain7
Fetalliver4.45
Fetallung5.45
GlobusPallidus3.65
Heart7.3
Hypothalamus7.1
Kidney4.35
Leukemia_chronicMyelogenousK-5628.7
Leukemia_promyelocytic-HL-604.6
Leukemialymphoblastic(MOLT-4)4.85
Liver7.05
Lung6.1
Lymphnode4.55
Lymphoma_burkitts(Daudi)6.9
Lymphoma_burkitts(Raji)7.35
MedullaOblongata5
OccipitalLobe4.75
OlfactoryBulb4.3
Ovary3.85
Pancreas6.65
PancreaticIslet7.9
ParietalLobe5.65
Pituitary8.05
Placenta5.7
Pons5.2
PrefrontalCortex6.25
Prostate6.6
Salivarygland4.35
SkeletalMuscle13.95
Skin4.25
SmoothMuscle6.25
Spinalcord6.4
SubthalamicNucleus4.85
SuperiorCervicalGanglion6.1
TemporalLobe4.8
Testis4.7
TestisGermCell5.25
TestisIntersitial4.6
TestisLeydigCell5.3
TestisSeminiferousTubule4.6
Thalamus5.55
Thymus4.15
Thyroid8.75
Tongue6.45
Tonsil5.3
Trachea4.55
TrigeminalGanglion5.25
Uterus4.3
UterusCorpus5.7
WholeBlood5.65
Wholebrain4.6
colon5.85
pineal_day39.84
pineal_night51.98
retina18.675
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P257694
  • 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
Amygdala3.21 ± 0.87
Basal Forebrain2.73 ± 0.43
Basal Part of Pons2.83 ± 0.73
Cerebellar Cortex2.96 ± 0.62
Cerebellar Nuclei2.91 ± 0.71
Claustrum3.43 ± 0.92
Epithalamus3.01 ± 0.46
Frontal Lobe2.79 ± 0.66
Globus Pallidus3.34 ± 0.64
Hypothalamus3.03 ± 0.41
Insula2.84 ± 0.65
Limbic Lobe2.84 ± 0.76
Mesencephalon2.94 ± 0.69
Myelencephalon2.9 ± 0.62
Occipital Lobe2.87 ± 0.91
Parietal Lobe3.08 ± 0.69
Pontine Tegmentum3.04 ± 0.81
Striatum3.01 ± 0.76
Subthalamus2.89 ± 0.81
Temporal Lobe2.85 ± 0.73
Thalamus3.14 ± 0.61
White Matter3.8 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gtf2ird1CBCerebellum30.17
52.37
Gtf2ird1CTXCerebral cortex44.73
32.71
Gtf2ird1HIPHippocampal region15.37
15.49
Gtf2ird1HPFHippocampal formation25.89
22.82
Gtf2ird1HYHypothalamus57.28
42.87
Gtf2ird1LSXLateral septal complex94.91
66.22
Gtf2ird1MBMidbrain48.01
40.08
Gtf2ird1MYMedulla48.58
46.19
Gtf2ird1OLFOlfactory bulb91.08
85.02
Gtf2ird1PPons41.38
35.5
Gtf2ird1PALPallidum59.94
51.55
Gtf2ird1RHPRetrohippocampal region43.31
32.87
Gtf2ird1sAMYStriatum-like amygdalar nuclei81.35
58.75
Gtf2ird1STRStriatum65.76
47.06
Gtf2ird1STRdStriatum dorsal region57.15
40.95
Gtf2ird1STRvStriatum ventral region78.4
54.6
Gtf2ird1THThalamus100
95.74
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009780 10 229 238 DCGLHGQAPK 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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