AutismKB 2.0

Annotation Detail for FRAS1


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Basic Information Top
Gene Symbol:FRAS1 ( DKFZp686I05113,DKFZp686P08111,FLJ14927,FLJ22031,KIAA1500 )
Gene Full Name: Fraser syndrome 1
Band: 4q21.21
Quick LinksEntrez ID:80144; OMIM: 607830; Uniprot ID:FRAS1_HUMAN; ENSEMBL ID: ENSG00000138759; HGNC ID: 19185
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 body2 / 7076128
blastocyst10 / 62319160
fetus23 / 56401240
neonate0 / 310970 
infant1 / 2362042
juvenile3 / 5555653
adult53 / 193912127
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 tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal92 / 336030727
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye2 / 2110549
heart3 / 8962633
intestine10 / 23447242
kidney6 / 21177728
larynx0 / 241450 
liver2 / 2077439
lung35 / 336974103
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth3 / 6705244
muscle6 / 10771555
nerve0 / 157680 
ovary2 / 10205119
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta10 / 28082535
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach2 / 9661920
testis7 / 33044221
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220910_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.35
Adipocyte7.85
AdrenalCortex8.4
Adrenalgland6.65
Amygdala8.2
Appendix8.2
AtrioventricularNode16.6
BDCA4+_DentriticCells8.35
Bonemarrow8.2
BronchialEpithelialCells6.85
CD105+_Endothelial8.05
CD14+_Monocytes8.5
CD19+_BCells(neg._sel.)8.35
CD33+_Myeloid10.25
CD34+10.15
CD4+_Tcells8.5
CD56+_NKCells9.55
CD71+_EarlyErythroid7.45
CD8+_Tcells7.7
CardiacMyocytes9.95
Caudatenucleus7.15
Cerebellum6.4
CerebellumPeduncles9
CiliaryGanglion6.25
CingulateCortex8.25
Colorectaladenocarcinoma7.15
DorsalRootGanglion6.6
FetalThyroid7.55
Fetalbrain7.95
Fetalliver7.05
Fetallung6.65
GlobusPallidus5.85
Heart11.2
Hypothalamus8.35
Kidney6.85
Leukemia_chronicMyelogenousK-5627.15
Leukemia_promyelocytic-HL-607
Leukemialymphoblastic(MOLT-4)6.25
Liver9.15
Lung8.75
Lymphnode6.85
Lymphoma_burkitts(Daudi)10.1
Lymphoma_burkitts(Raji)11.6
MedullaOblongata7.55
OccipitalLobe7.15
OlfactoryBulb6.3
Ovary5.4
Pancreas6.5
PancreaticIslet8.5
ParietalLobe8.3
Pituitary9.3
Placenta8.05
Pons7.55
PrefrontalCortex10
Prostate9.25
Salivarygland6.35
SkeletalMuscle9.2
Skin13.6
SmoothMuscle9.05
Spinalcord8.5
SubthalamicNucleus7.4
SuperiorCervicalGanglion10.8
TemporalLobe7.6
Testis6.85
TestisGermCell6.55
TestisIntersitial6.9
TestisLeydigCell7.85
TestisSeminiferousTubule6.9
Thalamus8.05
Thymus5.2
Thyroid9.6
Tongue8
Tonsil7.7
Trachea6.5
TrigeminalGanglion7.9
Uterus6.4
UterusCorpus7.5
WholeBlood6.05
Wholebrain5.75
colon7.9
pineal_day9.82
pineal_night9.5
retina9.7
small_intestine7.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6929_PI416261804
  • 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
Amygdala5.1 ± 0.54
Basal Forebrain5.74 ± 0.36
Basal Part of Pons6.4 ± 0.48
Cerebellar Cortex5.48 ± 0.43
Cerebellar Nuclei4.66 ± 0.46
Claustrum6.11 ± 0.68
Epithalamus4.89 ± 1.03
Frontal Lobe5.49 ± 0.56
Globus Pallidus3.43 ± 0.81
Hypothalamus5.37 ± 0.53
Insula5.34 ± 0.51
Limbic Lobe5.15 ± 0.61
Mesencephalon5.02 ± 0.71
Myelencephalon5.42 ± 0.76
Occipital Lobe5.73 ± 0.47
Parietal Lobe5.39 ± 0.55
Pontine Tegmentum5.22 ± 0.64
Striatum6.08 ± 0.49
Subthalamus4.42 ± 0.25
Temporal Lobe5.34 ± 0.52
Thalamus6.4 ± 0.49
White Matter2.87 ± 0.7
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Fras1CBCerebellum15.14
16.31
Fras1CTXCerebral cortex22.13
16.11
Fras1HIPHippocampal region19.12
22.51
Fras1HPFHippocampal formation23.96
24.25
Fras1HYHypothalamus6.53
5.08
Fras1LSXLateral septal complex2.66
2.44
Fras1MBMidbrain6.26
5.8
Fras1MYMedulla13.91
17.65
Fras1OLFOlfactory bulb39.78
37.89
Fras1PPons8.27
8.74
Fras1PALPallidum4.13
3.35
Fras1RHPRetrohippocampal region30.46
25.9
Fras1sAMYStriatum-like amygdalar nuclei6.96
5.12
Fras1STRStriatum8.05
5.94
Fras1STRdStriatum dorsal region5.4
3.77
Fras1STRvStriatum ventral region19.29
13.82
Fras1THThalamus31.36
25.87
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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