AutismKB 2.0

Annotation Detail for CDKAL1


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Basic Information Top
Gene Symbol:CDKAL1 ( FLJ20342,FLJ46705,MGC75469 )
Gene Full Name: CDK5 regulatory subunit associated protein 1-like 1
Band: 6p22.3
Quick LinksEntrez ID:54901; OMIM: 611259; Uniprot ID:CDKAL_HUMAN; ENSEMBL ID: ENSG00000145996; HGNC ID: 21050
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 body1 / 7076114
blastocyst2 / 6231932
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult30 / 193912115
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma1 / 1068839
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal73 / 336030721
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor7 / 12519155
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 
bladder1 / 2975733
blood1 / 1234788
bone1 / 7165513
bone marrow1 / 4880120
brain24 / 110098921
cervix1 / 4817120
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye3 / 21105414
heart3 / 8962633
intestine3 / 23447212
kidney4 / 21177718
larynx2 / 2414582
liver6 / 20774328
lung9 / 33697426
lymph1 / 4427022
lymph node0 / 916100 
mammary gland5 / 15327132
mouth3 / 6705244
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta5 / 28082517
prostate5 / 18934526
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach1 / 9661910
testis9 / 33044227
thymus2 / 8113124
thyroid2 / 4747342
tonsil1 / 1699958
trachea6 / 52413114
umbilical cord0 / 136800 
uterus1 / 2328784
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220039_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.55
Adipocyte6.5
AdrenalCortex7.3
Adrenalgland6.05
Amygdala6.9
Appendix7.2
AtrioventricularNode5.95
BDCA4+_DentriticCells6.75
Bonemarrow7.15
BronchialEpithelialCells6.4
CD105+_Endothelial6.7
CD14+_Monocytes7.1
CD19+_BCells(neg._sel.)7.35
CD33+_Myeloid8.2
CD34+8.1
CD4+_Tcells7.15
CD56+_NKCells7.7
CD71+_EarlyErythroid6.3
CD8+_Tcells6.25
CardiacMyocytes11.25
Caudatenucleus5.95
Cerebellum5.4
CerebellumPeduncles7.9
CiliaryGanglion6
CingulateCortex8
Colorectaladenocarcinoma6.65
DorsalRootGanglion5.7
FetalThyroid6.55
Fetalbrain6.5
Fetalliver5.85
Fetallung5.35
GlobusPallidus5.5
Heart11.05
Hypothalamus6.9
Kidney6.65
Leukemia_chronicMyelogenousK-5625.8
Leukemia_promyelocytic-HL-605.85
Leukemialymphoblastic(MOLT-4)5.5
Liver13.2
Lung7.2
Lymphnode5.45
Lymphoma_burkitts(Daudi)9.2
Lymphoma_burkitts(Raji)9.65
MedullaOblongata5.95
OccipitalLobe5.9
OlfactoryBulb5.05
Ovary4.95
Pancreas5.7
PancreaticIslet7.15
ParietalLobe7.15
Pituitary7.75
Placenta6.7
Pons6.4
PrefrontalCortex7.8
Prostate7.5
Salivarygland5.45
SkeletalMuscle8.9
Skin5.9
SmoothMuscle7.6
Spinalcord6.9
SubthalamicNucleus6.15
SuperiorCervicalGanglion11.85
TemporalLobe6.4
Testis5.65
TestisGermCell5.4
TestisIntersitial5.7
TestisLeydigCell6.75
TestisSeminiferousTubule5.65
Thalamus6.8
Thymus5.15
Thyroid8.25
Tongue7.35
Tonsil6.7
Trachea5.6
TrigeminalGanglion7.95
Uterus5.4
UterusCorpus6.1
WholeBlood7.2
Wholebrain5.35
colon6.6
pineal_day7.96
pineal_night7.86
retina7.9
small_intestine6.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16043_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
Amygdala6.59 ± 0.28
Basal Forebrain6.57 ± 0.16
Basal Part of Pons6.35 ± 0.43
Cerebellar Cortex6.94 ± 0.19
Cerebellar Nuclei6.89 ± 0.32
Claustrum6.67 ± 0.39
Epithalamus6.9 ± 0.23
Frontal Lobe6.35 ± 0.36
Globus Pallidus6.89 ± 0.41
Hypothalamus6.52 ± 0.33
Insula6.42 ± 0.29
Limbic Lobe6.45 ± 0.41
Mesencephalon6.67 ± 0.37
Myelencephalon6.54 ± 0.4
Occipital Lobe6.96 ± 0.38
Parietal Lobe6.56 ± 0.35
Pontine Tegmentum6.61 ± 0.35
Striatum6.53 ± 0.5
Subthalamus6.74 ± 0.13
Temporal Lobe6.45 ± 0.33
Thalamus6.52 ± 0.28
White Matter7.68 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cdkal1CBCerebellum1.29
1.73
Cdkal1CTXCerebral cortex0.38
0.67
Cdkal1HIPHippocampal region1.82
1.86
Cdkal1HPFHippocampal formation1.42
1.41
Cdkal1HYHypothalamus0.6
0.61
Cdkal1LSXLateral septal complex0.12
0.1
Cdkal1MBMidbrain0.51
0.79
Cdkal1MYMedulla7.35
10.81
Cdkal1OLFOlfactory bulb1.33
1.62
Cdkal1PPons4.52
6.49
Cdkal1PALPallidum0.34
0.28
Cdkal1RHPRetrohippocampal region0.49
0.37
Cdkal1sAMYStriatum-like amygdalar nuclei0.11
0.06
Cdkal1STRStriatum0.26
0.22
Cdkal1STRdStriatum dorsal region0.1
0.11
Cdkal1STRvStriatum ventral region0.85
0.61
Cdkal1THThalamus0.51
0.51
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010540 13 133 145 IVLAGCVPQAQPR 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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