AutismKB 2.0

Annotation Detail for CDK5RAP3


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Basic Information Top
Gene Symbol:CDK5RAP3 ( C53,HSF-27,IC53,LZAP,MST016,OK/SW-cl.114 )
Gene Full Name: CDK5 regulatory subunit associated protein 3
Band: 17q21.32
Quick LinksEntrez ID:80279; OMIM: 608202; Uniprot ID:CK5P3_HUMAN; ENSEMBL ID: ENSG00000108465; HGNC ID: 18673
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
blastocyst15 / 62319240
fetus58 / 564012102
neonate1 / 3109732
infant7 / 23620296
juvenile17 / 55556305
adult284 / 1939121146
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor30 / 94178318
cervical tumor7 / 34366203
chondrosarcoma3 / 8282336
colorectal tumor20 / 114246175
esophageal tumor7 / 17290404
gastrointestinal tumor14 / 119369117
germ cell tumor16 / 26384560
glioma12 / 106883112
head and neck tumor24 / 136302176
kidney tumor12 / 68959174
leukemia29 / 95842302
liver tumor34 / 96359352
lung tumor13 / 103127126
lymphoma18 / 71755250
non-neoplasia21 / 97250215
normal606 / 3360307180
ovarian tumor14 / 76682182
pancreatic tumor19 / 104616181
primitive neuroectodermal tumor of the CNS39 / 125680310
prostate cancer10 / 10268097
retinoblastoma10 / 46356215
skin tumor12 / 12494996
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor42 / 90257465
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites0 / 400150 
bladder11 / 29757369
blood28 / 123478226
bone5 / 7165569
bone marrow4 / 4880181
brain254 / 1100989230
cervix12 / 48171249
connective tissue25 / 149255167
ear0 / 162120 
embryonic tissue39 / 215722180
esophagus9 / 20209445
eye33 / 211054156
heart11 / 89626122
intestine48 / 234472204
kidney27 / 211777127
larynx2 / 2414582
liver45 / 207743216
lung25 / 33697474
lymph7 / 44270158
lymph node13 / 91610141
mammary gland33 / 153271215
mouth15 / 67052223
muscle5 / 10771546
nerve4 / 15768253
ovary19 / 102051186
pancreas23 / 214812107
parathyroid0 / 205390 
pharynx9 / 41328217
pituitary gland0 / 165850 
placenta54 / 280825192
prostate25 / 189345132
salivary gland0 / 201550 
skin26 / 210574123
spleen20 / 53952370
stomach21 / 96619217
testis90 / 330442272
thymus80 / 81131986
thyroid12 / 47473252
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord1 / 1368073
uterus59 / 232878253
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218740_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts664.25
Adipocyte66.35
AdrenalCortex103.1
Adrenalgland72.85
Amygdala101.25
Appendix90.6
AtrioventricularNode50.6
BDCA4+_DentriticCells720.8
Bonemarrow82.95
BronchialEpithelialCells62.55
CD105+_Endothelial175.6
CD14+_Monocytes352.85
CD19+_BCells(neg._sel.)608.55
CD33+_Myeloid801.25
CD34+735.4
CD4+_Tcells1397.2
CD56+_NKCells549.45
CD71+_EarlyErythroid128.7
CD8+_Tcells1298.25
CardiacMyocytes84.35
Caudatenucleus155.75
Cerebellum67
CerebellumPeduncles138.1
CiliaryGanglion25.7
CingulateCortex129.95
Colorectaladenocarcinoma229.85
DorsalRootGanglion34.2
FetalThyroid358.4
Fetalbrain159.35
Fetalliver56.25
Fetallung173.3
GlobusPallidus53.65
Heart46.65
Hypothalamus317.2
Kidney52.85
Leukemia_chronicMyelogenousK-562220.6
Leukemia_promyelocytic-HL-60265.6
Leukemialymphoblastic(MOLT-4)524.95
Liver157.55
Lung116.4
Lymphnode443.7
Lymphoma_burkitts(Daudi)345.55
Lymphoma_burkitts(Raji)339.6
MedullaOblongata134.25
OccipitalLobe94.9
OlfactoryBulb207.95
Ovary86.35
Pancreas185.25
PancreaticIslet256.8
ParietalLobe97
Pituitary209.75
Placenta92.55
Pons70.4
PrefrontalCortex258.4
Prostate193.4
Salivarygland197.05
SkeletalMuscle65.3
Skin43.3
SmoothMuscle84.95
Spinalcord205.9
SubthalamicNucleus88.55
SuperiorCervicalGanglion49.7
TemporalLobe55.45
Testis244.8
TestisGermCell198.95
TestisIntersitial325.45
TestisLeydigCell170.4
TestisSeminiferousTubule237.9
Thalamus145.85
Thymus171.9
Thyroid247.3
Tongue102.05
Tonsil186.35
Trachea97.5
TrigeminalGanglion90.55
Uterus133.45
UterusCorpus105.65
WholeBlood180.55
Wholebrain106.65
colon116.85
pineal_day317.86
pineal_night306.22
retina164.2
small_intestine110.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P292964
  • 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
Amygdala6.65 ± 0.53
Basal Forebrain7.09 ± 0.31
Basal Part of Pons7.22 ± 0.41
Cerebellar Cortex7.33 ± 0.44
Cerebellar Nuclei6.92 ± 0.4
Claustrum6.51 ± 0.68
Epithalamus7.22 ± 0.92
Frontal Lobe6.92 ± 0.52
Globus Pallidus7.25 ± 0.2
Hypothalamus7.02 ± 0.41
Insula6.92 ± 0.35
Limbic Lobe6.96 ± 0.51
Mesencephalon6.88 ± 0.5
Myelencephalon7.01 ± 0.49
Occipital Lobe7.13 ± 0.51
Parietal Lobe6.91 ± 0.44
Pontine Tegmentum6.88 ± 0.48
Striatum7.17 ± 0.49
Subthalamus6.64 ± 0.4
Temporal Lobe6.99 ± 0.4
Thalamus7.02 ± 0.42
White Matter8.33 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cdk5rap3CBCerebellum21.03
26.29
Cdk5rap3CTXCerebral cortex69.28
51.1
Cdk5rap3HIPHippocampal region52.94
68.28
Cdk5rap3HPFHippocampal formation60.91
66.83
Cdk5rap3HYHypothalamus31.13
25.82
Cdk5rap3LSXLateral septal complex46.4
34.28
Cdk5rap3MBMidbrain24.56
21.38
Cdk5rap3MYMedulla22.31
23.11
Cdk5rap3OLFOlfactory bulb55.44
46.49
Cdk5rap3PPons25.44
25.75
Cdk5rap3PALPallidum34.25
30.61
Cdk5rap3RHPRetrohippocampal region74.47
65.6
Cdk5rap3sAMYStriatum-like amygdalar nuclei33.96
23.51
Cdk5rap3STRStriatum37.48
26.6
Cdk5rap3STRdStriatum dorsal region35.79
25.87
Cdk5rap3STRvStriatum ventral region42.47
27.98
Cdk5rap3THThalamus42.65
35.45
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009641 10 136 145 CQQLQQEYSR 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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