AutismKB 2.0

Annotation Detail for TWIST1


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Basic Information Top
Gene Symbol:TWIST1 ( ACS3,BPES2,BPES3,CRS1,SCS,TWIST,bHLHa38 )
Gene Full Name: twist homolog 1 (Drosophila)
Band: 7p21.1
Quick LinksEntrez ID:7291; OMIM: 601622; Uniprot ID:TWST1_HUMAN; ENSEMBL ID: ENSG00000122691; HGNC ID: 12428
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 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult16 / 19391218
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 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal13 / 33603073
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone4 / 7165555
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx1 / 2414541
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach2 / 9661920
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213943_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.55
Adipocyte165.85
AdrenalCortex27.2
Adrenalgland9.95
Amygdala9.45
Appendix23.05
AtrioventricularNode31.15
BDCA4+_DentriticCells9.8
Bonemarrow13.65
BronchialEpithelialCells20.9
CD105+_Endothelial11.85
CD14+_Monocytes12.1
CD19+_BCells(neg._sel.)12.6
CD33+_Myeloid12.75
CD34+13.35
CD4+_Tcells10.85
CD56+_NKCells11.4
CD71+_EarlyErythroid10.8
CD8+_Tcells9.2
CardiacMyocytes60.85
Caudatenucleus10.2
Cerebellum8.8
CerebellumPeduncles14.9
CiliaryGanglion21.9
CingulateCortex11.8
Colorectaladenocarcinoma9.75
DorsalRootGanglion22.45
FetalThyroid16.65
Fetalbrain10.2
Fetalliver9.1
Fetallung8.4
GlobusPallidus8.3
Heart19.35
Hypothalamus11.5
Kidney9.1
Leukemia_chronicMyelogenousK-56240.95
Leukemia_promyelocytic-HL-609.2
Leukemialymphoblastic(MOLT-4)7.15
Liver15.45
Lung11.3
Lymphnode9.1
Lymphoma_burkitts(Daudi)14
Lymphoma_burkitts(Raji)16.55
MedullaOblongata8.75
OccipitalLobe9.6
OlfactoryBulb35.85
Ovary11.6
Pancreas12.35
PancreaticIslet13.7
ParietalLobe13.45
Pituitary13.35
Placenta443.1
Pons12.8
PrefrontalCortex12.55
Prostate21.9
Salivarygland13.65
SkeletalMuscle28.95
Skin56.85
SmoothMuscle41.05
Spinalcord10.65
SubthalamicNucleus10.15
SuperiorCervicalGanglion33.9
TemporalLobe11.35
Testis10.4
TestisGermCell15.45
TestisIntersitial19.15
TestisLeydigCell14.45
TestisSeminiferousTubule17.7
Thalamus11.5
Thymus9.15
Thyroid14.15
Tongue22.6
Tonsil11.7
Trachea11.55
TrigeminalGanglion21.75
Uterus76.7
UterusCorpus230.45
WholeBlood10.9
Wholebrain8.65
colon10.35
pineal_day13.2
pineal_night13.06
retina18.45
small_intestine9.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P71073
  • 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
Amygdala2.04 ± 1.08
Basal Forebrain1.6 ± 0.22
Basal Part of Pons1.25 ± 0.4
Cerebellar Cortex1.28 ± 0.6
Cerebellar Nuclei1.81 ± 0.73
Claustrum2.38 ± 0.83
Epithalamus1.29 ± 0.71
Frontal Lobe1.49 ± 0.73
Globus Pallidus2.08 ± 0.35
Hypothalamus1.74 ± 0.81
Insula1.66 ± 0.73
Limbic Lobe1.57 ± 0.68
Mesencephalon1.9 ± 0.75
Myelencephalon1.63 ± 0.71
Occipital Lobe1.68 ± 0.69
Parietal Lobe1.56 ± 0.71
Pontine Tegmentum1.61 ± 0.72
Striatum1.74 ± 0.78
Subthalamus1.72 ± 0.47
Temporal Lobe1.63 ± 0.76
Thalamus1.61 ± 0.74
White Matter2.06 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Twist1CBCerebellum15.14
19.54
Twist1CTXCerebral cortex30.98
26.56
Twist1HIPHippocampal region25.55
35.83
Twist1HPFHippocampal formation26.99
31.8
Twist1HYHypothalamus0.32
0.31
Twist1LSXLateral septal complex1.47
1.1
Twist1MBMidbrain3.43
3.81
Twist1MYMedulla11.21
13.4
Twist1OLFOlfactory bulb38.16
37.92
Twist1PPons2.53
3.18
Twist1PALPallidum5.99
6.96
Twist1RHPRetrohippocampal region29.19
26.06
Twist1sAMYStriatum-like amygdalar nuclei46.67
38.51
Twist1STRStriatum18.89
15.47
Twist1STRdStriatum dorsal region22.33
18.6
Twist1STRvStriatum ventral region3.88
2.89
Twist1THThalamus5.53
5.16
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


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