AutismKB 2.0

Annotation Detail for CDKN2C


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Basic Information Top
Gene Symbol:CDKN2C ( INK4C,p18,p18-INK4C )
Gene Full Name: cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
Band: 1p32.3
Quick LinksEntrez ID:1031; OMIM: 603369; Uniprot ID:CDN2C_HUMAN; ENSEMBL ID: ENSG00000123080; HGNC ID: 1789
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 body0 / 707610 
blastocyst0 / 623190 
fetus17 / 56401230
neonate1 / 3109732
infant12 / 23620508
juvenile16 / 55556287
adult55 / 193912128
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor4 / 34366116
chondrosarcoma6 / 8282372
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor13 / 119369108
germ cell tumor4 / 26384515
glioma15 / 106883140
head and neck tumor7 / 13630251
kidney tumor7 / 68959101
leukemia15 / 95842156
liver tumor4 / 9635941
lung tumor4 / 10312738
lymphoma7 / 7175597
non-neoplasia8 / 9725082
normal90 / 336030726
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS47 / 125680373
prostate cancer1 / 1026809
retinoblastoma5 / 46356107
skin tumor3 / 12494924
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites6 / 40015149
bladder0 / 297570 
blood14 / 123478113
bone4 / 7165555
bone marrow10 / 48801204
brain63 / 110098957
cervix8 / 48171166
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye10 / 21105447
heart4 / 8962644
intestine7 / 23447229
kidney8 / 21177737
larynx0 / 241450 
liver4 / 20774319
lung7 / 33697420
lymph6 / 44270135
lymph node1 / 9161010
mammary gland1 / 1532716
mouth3 / 6705244
muscle4 / 10771537
nerve1 / 1576863
ovary1 / 1020519
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate4 / 18934521
salivary gland5 / 20155248
skin7 / 21057433
spleen2 / 5395237
stomach6 / 9661962
testis3 / 3304429
thymus22 / 81131271
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus14 / 23287860
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204159_at
Cell line Expression level Expression bar
721_B_lymphoblasts67.1
Adipocyte93.35
AdrenalCortex9.85
Adrenalgland9.2
Amygdala7.25
Appendix9.95
AtrioventricularNode7.85
BDCA4+_DentriticCells13.4
Bonemarrow51.65
BronchialEpithelialCells6.2
CD105+_Endothelial22.95
CD14+_Monocytes7.6
CD19+_BCells(neg._sel.)7.15
CD33+_Myeloid11.3
CD34+24.45
CD4+_Tcells6.7
CD56+_NKCells9.2
CD71+_EarlyErythroid108.4
CD8+_Tcells6.15
CardiacMyocytes11.7
Caudatenucleus6.8
Cerebellum6.5
CerebellumPeduncles9.6
CiliaryGanglion10.2
CingulateCortex8.25
Colorectaladenocarcinoma7.5
DorsalRootGanglion7
FetalThyroid7.55
Fetalbrain6.35
Fetalliver16.95
Fetallung5.45
GlobusPallidus7
Heart13.5
Hypothalamus7.45
Kidney6.95
Leukemia_chronicMyelogenousK-56218.05
Leukemia_promyelocytic-HL-6065.75
Leukemialymphoblastic(MOLT-4)55.35
Liver11.75
Lung8.1
Lymphnode6.2
Lymphoma_burkitts(Daudi)53.95
Lymphoma_burkitts(Raji)25.25
MedullaOblongata6.65
OccipitalLobe6.4
OlfactoryBulb6.1
Ovary5.95
Pancreas6.1
PancreaticIslet11.95
ParietalLobe8.75
Pituitary9
Placenta6.7
Pons7.85
PrefrontalCortex9
Prostate8.3
Salivarygland6.45
SkeletalMuscle11.3
Skin7.5
SmoothMuscle7.9
Spinalcord8.2
SubthalamicNucleus7.3
SuperiorCervicalGanglion11.65
TemporalLobe7.5
Testis7.5
TestisGermCell5.65
TestisIntersitial6.05
TestisLeydigCell7.9
TestisSeminiferousTubule5.95
Thalamus8
Thymus76.35
Thyroid9.1
Tongue9.95
Tonsil7.8
Trachea6.7
TrigeminalGanglion9.5
Uterus10.75
UterusCorpus7.55
WholeBlood7.95
Wholebrain6.2
colon34.05
pineal_day18.86
pineal_night26.92
retina10.8
small_intestine33.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12737_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
Amygdala2.07 ± 1.06
Basal Forebrain1.85 ± 0.41
Basal Part of Pons1.51 ± 0.69
Cerebellar Cortex1.43 ± 0.57
Cerebellar Nuclei2.05 ± 0.86
Claustrum2.2 ± 0.65
Epithalamus1.34 ± 1.07
Frontal Lobe1.73 ± 0.72
Globus Pallidus3.07 ± 1.13
Hypothalamus1.69 ± 0.58
Insula1.25 ± 0.5
Limbic Lobe1.55 ± 0.66
Mesencephalon1.86 ± 0.66
Myelencephalon1.73 ± 0.72
Occipital Lobe1.83 ± 0.82
Parietal Lobe1.65 ± 0.69
Pontine Tegmentum1.74 ± 0.74
Striatum1.76 ± 0.69
Subthalamus1.86 ± 0.68
Temporal Lobe1.53 ± 0.7
Thalamus1.8 ± 0.59
White Matter3.54 ± 0.64
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cdkn2cCBCerebellum27.58
21.64
Cdkn2cCTXCerebral cortex83.44
77.44
Cdkn2cHIPHippocampal region89.83
92.84
Cdkn2cHPFHippocampal formation97.11
97.25
Cdkn2cHYHypothalamus100
100
Cdkn2cLSXLateral septal complex100
100
Cdkn2cMBMidbrain87.23
82.41
Cdkn2cMYMedulla77.12
79.17
Cdkn2cOLFOlfactory bulb100
93.16
Cdkn2cPPons61.6
61.57
Cdkn2cPALPallidum100
100
Cdkn2cRHPRetrohippocampal region100
100
Cdkn2csAMYStriatum-like amygdalar nuclei100
100
Cdkn2cSTRStriatum83.54
70.51
Cdkn2cSTRdStriatum dorsal region45.85
36.11
Cdkn2cSTRvStriatum ventral region100
85.28
Cdkn2cTHThalamus41.94
36.89
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