AutismKB 2.0

Annotation Detail for ACTA1


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Basic Information Top
Gene Symbol:ACTA1 ( ACTA,ASMA,CFTD,CFTD1,CFTDM,MPFD,NEM1,NEM2,NEM3 )
Gene Full Name: actin, alpha 1, skeletal muscle
Band: 1q42.13
Quick LinksEntrez ID:58; OMIM: 102610; Uniprot ID:ACTS_HUMAN; ENSEMBL ID: ENSG00000143632; HGNC ID: 129
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 body6 / 7076184
blastocyst6 / 6231996
fetus43 / 56401276
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult477 / 1939121245
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor75 / 136302550
kidney tumor6 / 6895987
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal323 / 336030796
ovarian tumor2 / 7668226
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites0 / 400150 
bladder2 / 2975767
blood1 / 1234788
bone5 / 7165569
bone marrow1 / 4880120
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye7 / 21105433
heart95 / 896261059
intestine1 / 2344724
kidney6 / 21177728
larynx81 / 241453354
liver5 / 20774324
lung13 / 33697438
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth2 / 6705229
muscle377 / 1077153499
nerve5 / 15768317
ovary2 / 10205119
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta5 / 28082517
prostate10 / 18934552
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid23 / 47473484
tonsil4 / 16999235
trachea0 / 524130 
umbilical cord4 / 13680292
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203872_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.2
Adipocyte6.7
AdrenalCortex7.5
Adrenalgland5.85
Amygdala6.65
Appendix7
AtrioventricularNode5.5
BDCA4+_DentriticCells6.7
Bonemarrow14.5
BronchialEpithelialCells6.5
CD105+_Endothelial6.85
CD14+_Monocytes7.35
CD19+_BCells(neg._sel.)7.4
CD33+_Myeloid8.3
CD34+8.4
CD4+_Tcells6.95
CD56+_NKCells7.65
CD71+_EarlyErythroid6.55
CD8+_Tcells6.2
CardiacMyocytes9.05
Caudatenucleus6.1
Cerebellum5.4
CerebellumPeduncles9.15
CiliaryGanglion6.55
CingulateCortex7
Colorectaladenocarcinoma6.9
DorsalRootGanglion5.35
FetalThyroid2681.4
Fetalbrain6.9
Fetalliver6
Fetallung5.35
GlobusPallidus5.05
Heart11455.75
Hypothalamus7.15
Kidney6.3
Leukemia_chronicMyelogenousK-5626.2
Leukemia_promyelocytic-HL-606.05
Leukemialymphoblastic(MOLT-4)5.55
Liver9
Lung7.5
Lymphnode7.8
Lymphoma_burkitts(Daudi)8.75
Lymphoma_burkitts(Raji)9.55
MedullaOblongata5.7
OccipitalLobe6.15
OlfactoryBulb5.4
Ovary4.6
Pancreas5.65
PancreaticIslet7.35
ParietalLobe7.25
Pituitary8
Placenta7
Pons6.5
PrefrontalCortex7.85
Prostate616.4
Salivarygland5.65
SkeletalMuscle31864.3
Skin5.45
SmoothMuscle7.8
Spinalcord7.3
SubthalamicNucleus6.3
SuperiorCervicalGanglion8.35
TemporalLobe6.25
Testis1187.75
TestisGermCell106.7
TestisIntersitial9.95
TestisLeydigCell11.2
TestisSeminiferousTubule5.9
Thalamus6.9
Thymus5.5
Thyroid19645.9
Tongue15703.95
Tonsil6.65
Trachea30.95
TrigeminalGanglion7.3
Uterus5.45
UterusCorpus6.2
WholeBlood7.4
Wholebrain5.7
colon28.7
pineal_day7.82
pineal_night7.66
retina8.05
small_intestine57
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P1102
  • 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
Amygdala6.44 ± 0.61
Basal Forebrain6.03 ± 0.42
Basal Part of Pons6.8 ± 0.49
Cerebellar Cortex6.49 ± 0.34
Cerebellar Nuclei4.28 ± 0.48
Claustrum6.27 ± 0.55
Epithalamus5.81 ± 0.86
Frontal Lobe6.74 ± 0.46
Globus Pallidus3.78 ± 1.27
Hypothalamus7.57 ± 0.55
Insula6.78 ± 0.26
Limbic Lobe6.18 ± 0.71
Mesencephalon6.35 ± 0.72
Myelencephalon6.24 ± 0.91
Occipital Lobe5.27 ± 0.89
Parietal Lobe6.27 ± 0.58
Pontine Tegmentum6 ± 1.06
Striatum5 ± 0.91
Subthalamus6.8 ± 0.23
Temporal Lobe6.54 ± 0.44
Thalamus6.65 ± 0.76
White Matter3.66 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Acta1CBCerebellum100
100
Acta1CTXCerebral cortex100
100
Acta1HIPHippocampal region100
100
Acta1HPFHippocampal formation100
100
Acta1HYHypothalamus100
100
Acta1LSXLateral septal complex100
100
Acta1MBMidbrain100
100
Acta1MYMedulla100
100
Acta1OLFOlfactory bulb100
100
Acta1PPons100
100
Acta1PALPallidum100
100
Acta1RHPRetrohippocampal region100
100
Acta1sAMYStriatum-like amygdalar nuclei100
100
Acta1STRStriatum100
100
Acta1STRdStriatum dorsal region100
100
Acta1STRvStriatum ventral region100
100
Acta1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ACTS_HUMAN_150 30 150 179 TTGIVLDSGDGVTHNVPIYEGYALPHAIMR PRIDE
ACTS_HUMAN_199 10 199 208 GYSFVTTAER PRIDE
ACTS_HUMAN_241 16 241 256 SYELPDGQVITIGNER PRIDE
ACTS_HUMAN_31 11 31 41 AVFPSIVGRPR PRIDE
ACTS_HUMAN_87 11 87 97 IWHHTFYNELR PRIDE
ACTS_HUMAN_98 18 98 115 VAPEEHPTLLTEAPLNPK PRIDE
PAp00000350 10 21 30 AGFAGDDAPR 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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