AutismKB 2.0

Annotation Detail for CNKSR2


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Basic Information Top
Gene Symbol:CNKSR2 ( CNK2,KIAA0902,KSR2,MAGUIN )
Gene Full Name: connector enhancer of kinase suppressor of Ras 2
Band: Xp22.12
Quick LinksEntrez ID:22866; OMIM: 300724; Uniprot ID:CNKR2_HUMAN; ENSEMBL ID: ENSG00000149970; HGNC ID: 19701
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
blastocyst0 / 623190 
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor10 / 26384537
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal116 / 336030734
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow1 / 4880120
brain114 / 1100989103
cervix0 / 481710 
connective tissue0 / 1492550 
ear1 / 1621261
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node2 / 9161021
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206731_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.45
Adipocyte8.1
AdrenalCortex9.2
Adrenalgland7.25
Amygdala25.2
Appendix11.65
AtrioventricularNode8.15
BDCA4+_DentriticCells7.9
Bonemarrow8.6
BronchialEpithelialCells7.6
CD105+_Endothelial8.1
CD14+_Monocytes8.95
CD19+_BCells(neg._sel.)8.35
CD33+_Myeloid10.25
CD34+10
CD4+_Tcells7.95
CD56+_NKCells9.45
CD71+_EarlyErythroid7.95
CD8+_Tcells7.35
CardiacMyocytes13.3
Caudatenucleus16.2
Cerebellum7.35
CerebellumPeduncles15.95
CiliaryGanglion8.15
CingulateCortex11.75
Colorectaladenocarcinoma8.4
DorsalRootGanglion8.45
FetalThyroid8.25
Fetalbrain14.9
Fetalliver7.6
Fetallung6.1
GlobusPallidus9.1
Heart16.55
Hypothalamus8.4
Kidney7
Leukemia_chronicMyelogenousK-5627.35
Leukemia_promyelocytic-HL-607.4
Leukemialymphoblastic(MOLT-4)6.5
Liver11.95
Lung8.9
Lymphnode6.75
Lymphoma_burkitts(Daudi)10.7
Lymphoma_burkitts(Raji)12.6
MedullaOblongata12
OccipitalLobe11.6
OlfactoryBulb6.45
Ovary6.4
Pancreas6.8
PancreaticIslet8.85
ParietalLobe10.5
Pituitary9.8
Placenta8.3
Pons13.95
PrefrontalCortex29.3
Prostate9.6
Salivarygland6.8
SkeletalMuscle11.55
Skin8.4
SmoothMuscle9.45
Spinalcord8.8
SubthalamicNucleus8.7
SuperiorCervicalGanglion12.3
TemporalLobe15.45
Testis7.2
TestisGermCell6.5
TestisIntersitial7.1
TestisLeydigCell9.05
TestisSeminiferousTubule7.35
Thalamus8.6
Thymus6.55
Thyroid10.15
Tongue8.9
Tonsil8.2
Trachea6.85
TrigeminalGanglion10.8
Uterus6.7
UterusCorpus7.65
WholeBlood8.95
Wholebrain11.3
colon8.25
pineal_day10.2
pineal_night10.22
retina10.225
small_intestine8.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_976_PI416573500
  • 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
Amygdala6.7 ± 0.5
Basal Forebrain5.42 ± 0.51
Basal Part of Pons5.37 ± 0.47
Cerebellar Cortex6.52 ± 0.19
Cerebellar Nuclei5.03 ± 0.57
Claustrum6.38 ± 0.55
Epithalamus5.22 ± 0.39
Frontal Lobe5.86 ± 0.55
Globus Pallidus4.11 ± 0.66
Hypothalamus5.41 ± 0.61
Insula6.16 ± 0.49
Limbic Lobe6.58 ± 0.59
Mesencephalon5.82 ± 0.64
Myelencephalon5.91 ± 0.56
Occipital Lobe6.88 ± 0.5
Parietal Lobe6.14 ± 0.55
Pontine Tegmentum6.09 ± 0.65
Striatum6.27 ± 0.46
Subthalamus6.53 ± 1.04
Temporal Lobe6.12 ± 0.43
Thalamus5.64 ± 0.44
White Matter3.14 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cnksr2CBCerebellum6.14
7.05
Cnksr2CTXCerebral cortex11.84
8.73
Cnksr2HIPHippocampal region21.4
28.82
Cnksr2HPFHippocampal formation15.37
18.49
Cnksr2HYHypothalamus0.19
0.21
Cnksr2LSXLateral septal complex0
0
Cnksr2MBMidbrain0.41
0.69
Cnksr2MYMedulla0.84
1.06
Cnksr2OLFOlfactory bulb8.45
6.46
Cnksr2PPons0.37
0.55
Cnksr2PALPallidum0.22
0.23
Cnksr2RHPRetrohippocampal region5.05
4.06
Cnksr2sAMYStriatum-like amygdalar nuclei0.56
0.51
Cnksr2STRStriatum1.96
1.53
Cnksr2STRdStriatum dorsal region1.59
1.3
Cnksr2STRvStriatum ventral region5.49
3.76
Cnksr2THThalamus0.61
1.11
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CNKR2_HUMAN_137 8 137 144 SLLAWLDR PRIDE
CNKR2_HUMAN_145 13 145 157 SPFAAVTDYSVTR PRIDE
CNKR2_HUMAN_277 7 277 283 NLVNALR PRIDE
CNKR2_HUMAN_284 11 284 294 EDPSGVILTLK PRIDE
CNKR2_HUMAN_39 8 39 46 ISGDQLLR PRIDE
CNKR2_HUMAN_60 27 60 86 IGHQELILEAVDLLCALNYGLETENLK PRIDE
CNKR2_HUMAN_767 39 767 805 SWQDLIETPLTSSGLHYLQTLPLEDSVFSDSAAISPEHR PRIDE
CNKR2_HUMAN_807 8 807 814 QSTLPTQK PRIDE
CNKR2_HUMAN_832 12 832 843 MQVLNGNGGKPR PRIDE
CNKR2_HUMAN_844 6 844 849 SFTLPR PRIDE
CNKR2_HUMAN_905 10 905 914 LGDSLQDLYR PRIDE
CNKR2_HUMAN_915 14 915 928 ALEQASLSPLGEHR PRIDE

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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