AutismKB 2.0

Annotation Detail for CDKN1A


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Basic Information Top
Gene Symbol:CDKN1A ( CAP20,CDKN1,CIP1,MDA-6,P21,SDI1,WAF1,p21CIP1 )
Gene Full Name: cyclin-dependent kinase inhibitor 1A (p21, Cip1)
Band: 6p21.2
Quick LinksEntrez ID:1026; OMIM: 116899; Uniprot ID:CDN1A_HUMAN; ENSEMBL ID: ENSG00000124762; HGNC ID: 1784
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 body23 / 70761325
blastocyst5 / 6231980
fetus36 / 56401263
neonate1 / 3109732
infant2 / 2362084
juvenile10 / 55556179
adult393 / 1939121202
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor12 / 94178127
cervical tumor12 / 34366349
chondrosarcoma129 / 828231557
colorectal tumor9 / 11424678
esophageal tumor2 / 17290115
gastrointestinal tumor50 / 119369418
germ cell tumor72 / 263845272
glioma25 / 106883233
head and neck tumor21 / 136302154
kidney tumor14 / 68959203
leukemia8 / 9584283
liver tumor21 / 96359217
lung tumor93 / 103127901
lymphoma6 / 7175583
non-neoplasia18 / 97250185
normal529 / 3360307157
ovarian tumor12 / 76682156
pancreatic tumor25 / 104616238
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer18 / 102680175
retinoblastoma34 / 46356733
skin tumor27 / 124949216
soft tissue/muscle tissue tumor24 / 125191191
uterine tumor20 / 90257221
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue6 / 13106457
adrenal gland1 / 3319730
ascites25 / 40015624
bladder3 / 29757100
blood17 / 123478137
bone13 / 71655181
bone marrow9 / 48801184
brain91 / 110098982
cervix12 / 48171249
connective tissue56 / 149255375
ear4 / 16212246
embryonic tissue40 / 215722185
esophagus2 / 2020998
eye56 / 211054265
heart20 / 89626223
intestine42 / 234472179
kidney19 / 21177789
larynx3 / 24145124
liver28 / 207743134
lung280 / 336974830
lymph3 / 4427067
lymph node7 / 9161076
mammary gland28 / 153271182
mouth16 / 67052238
muscle16 / 107715148
nerve7 / 15768443
ovary9 / 10205188
pancreas55 / 214812256
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta52 / 280825185
prostate29 / 189345153
salivary gland6 / 20155297
skin121 / 210574574
spleen2 / 5395237
stomach33 / 96619341
testis15 / 33044245
thymus15 / 81131184
thyroid7 / 47473147
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus31 / 232878133
vascular10 / 51780193
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202284_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts705.75
Adipocyte962.05
AdrenalCortex325.95
Adrenalgland175
Amygdala58.25
Appendix124.85
AtrioventricularNode112.2
BDCA4+_DentriticCells329
Bonemarrow46.45
BronchialEpithelialCells1764.3
CD105+_Endothelial17.45
CD14+_Monocytes409.6
CD19+_BCells(neg._sel.)123
CD33+_Myeloid309.7
CD34+26.45
CD4+_Tcells25.85
CD56+_NKCells44.7
CD71+_EarlyErythroid49.75
CD8+_Tcells26.9
CardiacMyocytes658.05
Caudatenucleus57.65
Cerebellum43.85
CerebellumPeduncles69.35
CiliaryGanglion249.45
CingulateCortex92.35
Colorectaladenocarcinoma199.8
DorsalRootGanglion73.25
FetalThyroid34.45
Fetalbrain58.6
Fetalliver40.9
Fetallung297.75
GlobusPallidus50.95
Heart250.7
Hypothalamus77.8
Kidney49.55
Leukemia_chronicMyelogenousK-56297.1
Leukemia_promyelocytic-HL-6078.45
Leukemialymphoblastic(MOLT-4)47.3
Liver142.75
Lung636
Lymphnode116.1
Lymphoma_burkitts(Daudi)140
Lymphoma_burkitts(Raji)123.85
MedullaOblongata26.85
OccipitalLobe54.1
OlfactoryBulb316.8
Ovary219.2
Pancreas349.5
PancreaticIslet577.55
ParietalLobe34.7
Pituitary137.35
Placenta327.9
Pons44.6
PrefrontalCortex52.65
Prostate247.9
Salivarygland74.4
SkeletalMuscle184.85
Skin188.1
SmoothMuscle1523
Spinalcord162.2
SubthalamicNucleus21.3
SuperiorCervicalGanglion68.1
TemporalLobe118.35
Testis148.7
TestisGermCell140.9
TestisIntersitial25.9
TestisLeydigCell49.1
TestisSeminiferousTubule152.85
Thalamus106.2
Thymus128.2
Thyroid119.2
Tongue184
Tonsil63.8
Trachea133.9
TrigeminalGanglion159.8
Uterus106.05
UterusCorpus186.15
WholeBlood85.6
Wholebrain25.5
colon333.7
pineal_day52.48
pineal_night40.74
retina133.775
small_intestine146.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P89457
  • 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
Amygdala2.95 ± 1.12
Basal Forebrain2.71 ± 0.62
Basal Part of Pons2.37 ± 0.8
Cerebellar Cortex2.14 ± 0.85
Cerebellar Nuclei3.25 ± 1.1
Claustrum3.48 ± 0.83
Epithalamus3.95 ± 0.93
Frontal Lobe2.36 ± 0.85
Globus Pallidus3.7 ± 0.57
Hypothalamus2.58 ± 0.96
Insula2.59 ± 0.93
Limbic Lobe2.47 ± 0.87
Mesencephalon2.59 ± 0.77
Myelencephalon2.62 ± 0.73
Occipital Lobe2.67 ± 0.74
Parietal Lobe2.44 ± 0.81
Pontine Tegmentum2.58 ± 0.87
Striatum2.81 ± 0.71
Subthalamus2.5 ± 0.56
Temporal Lobe2.56 ± 0.86
Thalamus2.48 ± 0.63
White Matter4.68 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cdkn1aCBCerebellum50.41
35.36
Cdkn1aCTXCerebral cortex44.97
28.86
Cdkn1aHIPHippocampal region15.51
9.29
Cdkn1aHPFHippocampal formation18.07
10.51
Cdkn1aHYHypothalamus11.87
8.53
Cdkn1aLSXLateral septal complex17.49
9.64
Cdkn1aMBMidbrain20.16
10.8
Cdkn1aMYMedulla28.68
16.75
Cdkn1aOLFOlfactory bulb75.2
54.45
Cdkn1aPPons25.98
16.61
Cdkn1aPALPallidum7.91
6.31
Cdkn1aRHPRetrohippocampal region22.22
12.18
Cdkn1asAMYStriatum-like amygdalar nuclei10.51
7.53
Cdkn1aSTRStriatum8.35
5.16
Cdkn1aSTRdStriatum dorsal region6.59
4.32
Cdkn1aSTRvStriatum ventral region9.33
5.13
Cdkn1aTHThalamus9.13
4.76
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00096810 29 94 122 RPGTSPALLQGTAEEDHVDLSLSCTLVPR 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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