AutismKB 2.0

Annotation Detail for CNN1


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Basic Information Top
Gene Symbol:CNN1 ( SMCC,Sm-Calp )
Gene Full Name: calponin 1, basic, smooth muscle
Band: 19p13.2
Quick LinksEntrez ID:1264; OMIM: 600806; Uniprot ID:CNN1_HUMAN; ENSEMBL ID: ENSG00000130176; HGNC ID: 2155
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 body8 / 70761113
blastocyst5 / 6231980
fetus5 / 5640128
neonate8 / 31097257
infant0 / 236200 
juvenile1 / 5555617
adult95 / 193912148
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) tumor0 / 941780 
cervical tumor5 / 34366145
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal207 / 336030761
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow1 / 4880120
brain12 / 110098910
cervix7 / 48171145
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus3 / 20209148
eye3 / 21105414
heart4 / 8962644
intestine62 / 234472264
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung8 / 33697423
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary2 / 10205119
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate21 / 189345110
salivary gland2 / 2015599
skin7 / 21057433
spleen2 / 5395237
stomach43 / 96619445
testis22 / 33044266
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord8 / 13680584
uterus45 / 232878193
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203951_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.9
Adipocyte3.85
AdrenalCortex4.1
Adrenalgland3.85
Amygdala4.1
Appendix146.5
AtrioventricularNode3.25
BDCA4+_DentriticCells4.25
Bonemarrow3.8
BronchialEpithelialCells3.85
CD105+_Endothelial3.95
CD14+_Monocytes4.15
CD19+_BCells(neg._sel.)4.15
CD33+_Myeloid5
CD34+4.95
CD4+_Tcells4.25
CD56+_NKCells4.7
CD71+_EarlyErythroid3.6
CD8+_Tcells3.8
CardiacMyocytes5.15
Caudatenucleus3.5
Cerebellum3.15
CerebellumPeduncles4.4
CiliaryGanglion3.05
CingulateCortex4.05
Colorectaladenocarcinoma3.9
DorsalRootGanglion3
FetalThyroid3.8
Fetalbrain3.85
Fetalliver3.4
Fetallung4.6
GlobusPallidus2.85
Heart53
Hypothalamus4.35
Kidney3.25
Leukemia_chronicMyelogenousK-5623.55
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.15
Liver5.1
Lung144.55
Lymphnode6.55
Lymphoma_burkitts(Daudi)4.95
Lymphoma_burkitts(Raji)5.45
MedullaOblongata3.55
OccipitalLobe3.5
OlfactoryBulb3.1
Ovary22.45
Pancreas3.35
PancreaticIslet4.15
ParietalLobe4.05
Pituitary4.6
Placenta6.15
Pons3.7
PrefrontalCortex4.85
Prostate1175.4
Salivarygland3.75
SkeletalMuscle4.45
Skin3.05
SmoothMuscle6.75
Spinalcord4.2
SubthalamicNucleus3.55
SuperiorCervicalGanglion4.4
TemporalLobe3.55
Testis55.95
TestisGermCell219.45
TestisIntersitial32.15
TestisLeydigCell87.45
TestisSeminiferousTubule16.7
Thalamus3.95
Thymus3.1
Thyroid4.95
Tongue3.8
Tonsil3.8
Trachea43.55
TrigeminalGanglion3.8
Uterus2161
UterusCorpus252.45
WholeBlood4.3
Wholebrain3.35
colon1273.6
pineal_day4.86
pineal_night4.8
retina49.95
small_intestine558.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P125233
  • 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
Amygdala6.33 ± 0.8
Basal Forebrain5.83 ± 0.47
Basal Part of Pons6.72 ± 0.73
Cerebellar Cortex5.38 ± 1.04
Cerebellar Nuclei6.1 ± 0.7
Claustrum6.62 ± 0.62
Epithalamus5.65 ± 0.96
Frontal Lobe6.67 ± 0.87
Globus Pallidus5.91 ± 1.23
Hypothalamus6.62 ± 1.15
Insula6.44 ± 0.5
Limbic Lobe6.38 ± 1.08
Mesencephalon6.2 ± 1.06
Myelencephalon6.35 ± 0.98
Occipital Lobe5.7 ± 0.75
Parietal Lobe6.66 ± 0.83
Pontine Tegmentum6.18 ± 1.03
Striatum5.27 ± 1.66
Subthalamus6.31 ± 0.36
Temporal Lobe6.42 ± 0.72
Thalamus5.91 ± 0.67
White Matter4.49 ± 1.02
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cnn1CBCerebellum1.55
2.69
Cnn1CTXCerebral cortex0.73
0.47
Cnn1HIPHippocampal region0.38
0.37
Cnn1HPFHippocampal formation0.92
0.85
Cnn1HYHypothalamus1.63
1.47
Cnn1LSXLateral septal complex0.2
0.16
Cnn1MBMidbrain0.51
0.59
Cnn1MYMedulla4.68
2.95
Cnn1OLFOlfactory bulb3.12
2.5
Cnn1PPons1.55
1.43
Cnn1PALPallidum0.64
0.65
Cnn1RHPRetrohippocampal region1.59
1.36
Cnn1sAMYStriatum-like amygdalar nuclei0.29
0.35
Cnn1STRStriatum0.24
0.23
Cnn1STRdStriatum dorsal region0.2
0.23
Cnn1STRvStriatum ventral region0.36
0.23
Cnn1THThalamus0.21
0.17
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CNN1_HUMAN_173 13 173 185 FASQQGMTAYGTR PRIDE
CNN1_HUMAN_193 20 193 212 LGTDQPLDQATISLQMGTNK PRIDE
CNN1_HUMAN_213 13 213 225 GASQAGMTAPGTK PRIDE
CNN1_HUMAN_257 9 257 265 GMTVYGLPR PRIDE
CNN1_HUMAN_45 11 45 55 RIGNNFMDGLK PRIDE
CNN1_HUMAN_46 10 46 55 IGNNFMDGLK PRIDE
CNN1_HUMAN_9 11 9 19 GPAYGLSAEVK PRIDE
PAp00429108 13 173 185 FASQQGMTAYGTR 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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