AutismKB 2.0

Annotation Detail for ACTC1


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Basic Information Top
Gene Symbol:ACTC1 ( ACTC,ASD5,CMD1R,CMH11,LVNC4 )
Gene Full Name: actin, alpha, cardiac muscle 1
Band: 15q14
Quick LinksEntrez ID:70; OMIM: 102540; Uniprot ID:ACTC_HUMAN; ENSEMBL ID: ENSG00000159251; HGNC ID: 143
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
blastocyst4 / 6231964
fetus127 / 564012225
neonate4 / 31097128
infant0 / 236200 
juvenile0 / 555560 
adult32 / 193912116
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 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor6 / 13630244
kidney tumor26 / 68959377
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal242 / 336030772
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
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 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue22 / 215722101
esophagus0 / 202090 
eye17 / 21105480
heart194 / 896262164
intestine1 / 2344724
kidney26 / 211777122
larynx3 / 24145124
liver5 / 20774324
lung13 / 33697438
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth8 / 67052119
muscle17 / 107715157
nerve1 / 1576863
ovary0 / 1020510 
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach6 / 9661962
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord4 / 13680292
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205132_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.3
Adipocyte6.95
AdrenalCortex8.35
Adrenalgland6.9
Amygdala7
Appendix20
AtrioventricularNode6.6
BDCA4+_DentriticCells6.65
Bonemarrow7.8
BronchialEpithelialCells6.95
CD105+_Endothelial6.65
CD14+_Monocytes7.35
CD19+_BCells(neg._sel.)6.95
CD33+_Myeloid8.25
CD34+8
CD4+_Tcells6.85
CD56+_NKCells7.6
CD71+_EarlyErythroid6.6
CD8+_Tcells6.1
CardiacMyocytes11.8
Caudatenucleus6.15
Cerebellum5.7
CerebellumPeduncles8.3
CiliaryGanglion5.65
CingulateCortex7.35
Colorectaladenocarcinoma6.8
DorsalRootGanglion6
FetalThyroid384.5
Fetalbrain6.75
Fetalliver6.25
Fetallung10.1
GlobusPallidus5.45
Heart17423.8
Hypothalamus7.25
Kidney6.2
Leukemia_chronicMyelogenousK-5626.3
Leukemia_promyelocytic-HL-606.15
Leukemialymphoblastic(MOLT-4)5.8
Liver9.75
Lung8
Lymphnode7.7
Lymphoma_burkitts(Daudi)9.3
Lymphoma_burkitts(Raji)10.35
MedullaOblongata6.1
OccipitalLobe6.05
OlfactoryBulb5.5
Ovary6.5
Pancreas5.95
PancreaticIslet7.7
ParietalLobe7.75
Pituitary8.45
Placenta15.75
Pons6.85
PrefrontalCortex7.7
Prostate47.25
Salivarygland5.85
SkeletalMuscle10.7
Skin6.1
SmoothMuscle8.05
Spinalcord7.6
SubthalamicNucleus6.55
SuperiorCervicalGanglion8.65
TemporalLobe6.55
Testis7.95
TestisGermCell19.75
TestisIntersitial6.15
TestisLeydigCell7.45
TestisSeminiferousTubule6.15
Thalamus7.2
Thymus5.95
Thyroid11.2
Tongue55.45
Tonsil7.05
Trachea7.25
TrigeminalGanglion8.6
Uterus10.6
UterusCorpus7.35
WholeBlood7.95
Wholebrain5.35
colon12
pineal_day8.86
pineal_night8.5
retina10.025
small_intestine7.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P205894
  • 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
Amygdala5.22 ± 0.51
Basal Forebrain6.45 ± 0.26
Basal Part of Pons5.82 ± 0.22
Cerebellar Cortex4.84 ± 0.54
Cerebellar Nuclei6.36 ± 0.37
Claustrum4.47 ± 0.82
Epithalamus5.31 ± 0.72
Frontal Lobe5.81 ± 0.58
Globus Pallidus5.85 ± 0.56
Hypothalamus5.81 ± 0.64
Insula5.73 ± 0.29
Limbic Lobe5.05 ± 0.64
Mesencephalon5.58 ± 0.74
Myelencephalon5.4 ± 0.74
Occipital Lobe4.48 ± 0.44
Parietal Lobe5.42 ± 0.51
Pontine Tegmentum5.53 ± 0.5
Striatum5.01 ± 0.7
Subthalamus5.73 ± 0.14
Temporal Lobe5.35 ± 0.57
Thalamus5.23 ± 0.58
White Matter4.62 ± 1.52
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Actc1CBCerebellum100
100
Actc1CTXCerebral cortex100
100
Actc1HIPHippocampal region100
100
Actc1HPFHippocampal formation100
100
Actc1HYHypothalamus100
100
Actc1LSXLateral septal complex100
100
Actc1MBMidbrain100
100
Actc1MYMedulla100
100
Actc1OLFOlfactory bulb100
100
Actc1PPons100
100
Actc1PALPallidum100
100
Actc1RHPRetrohippocampal region100
100
Actc1sAMYStriatum-like amygdalar nuclei100
100
Actc1STRStriatum100
100
Actc1STRdStriatum dorsal region100
100
Actc1STRvStriatum ventral region100
100
Actc1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ACTC_HUMAN_150 30 150 179 TTGIVLDSGDGVTHNVPIYEGYALPHAIMR PRIDE
ACTC_HUMAN_186 8 186 193 DLTDYLMK PRIDE
ACTC_HUMAN_199 10 199 208 GYSFVTTAER PRIDE
ACTC_HUMAN_241 16 241 256 SYELPDGQVITIGNER PRIDE
ACTC_HUMAN_294 21 294 314 DLYANNVLSGGTTMYPGIADR PRIDE
ACTC_HUMAN_31 11 31 41 AVFPSIVGRPR PRIDE
ACTC_HUMAN_331 7 331 337 IIAPPER PRIDE
ACTC_HUMAN_87 11 87 97 IWHHTFYNELR PRIDE
ACTC_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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