AutismKB 2.0

Annotation Detail for CKB


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Basic Information Top
Gene Symbol:CKB ( B-CK,CKBB )
Gene Full Name: creatine kinase, brain
Band: 14q32.33
Quick LinksEntrez ID:1152; OMIM: 123280; Uniprot ID:KCRB_HUMAN; ENSEMBL ID: ENSG00000166165; HGNC ID: 1991
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 body11 / 70761155
blastocyst19 / 62319304
fetus153 / 564012271
neonate2 / 3109764
infant16 / 23620677
juvenile5 / 5555689
adult528 / 1939121272
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor12 / 34366349
chondrosarcoma5 / 8282360
colorectal tumor59 / 114246516
esophageal tumor1 / 1729057
gastrointestinal tumor16 / 119369134
germ cell tumor21 / 26384579
glioma88 / 106883823
head and neck tumor8 / 13630258
kidney tumor9 / 68959130
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor54 / 103127523
lymphoma2 / 7175527
non-neoplasia24 / 97250246
normal862 / 3360307256
ovarian tumor7 / 7668291
pancreatic tumor21 / 104616200
primitive neuroectodermal tumor of the CNS100 / 125680795
prostate cancer149 / 1026801451
retinoblastoma48 / 463561035
skin tumor4 / 12494932
soft tissue/muscle tissue tumor25 / 125191199
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland2 / 3319760
ascites9 / 40015224
bladder0 / 297570 
blood3 / 12347824
bone10 / 71655139
bone marrow3 / 4880161
brain836 / 1100989759
cervix12 / 48171249
connective tissue17 / 149255113
ear0 / 162120 
embryonic tissue47 / 215722217
esophagus2 / 2020998
eye167 / 211054791
heart16 / 89626178
intestine129 / 234472550
kidney31 / 211777146
larynx2 / 2414582
liver16 / 20774377
lung84 / 336974249
lymph2 / 4427045
lymph node3 / 9161032
mammary gland6 / 15327139
mouth1 / 6705214
muscle10 / 10771592
nerve11 / 15768697
ovary12 / 102051117
pancreas42 / 214812195
parathyroid10 / 20539486
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta1 / 2808253
prostate171 / 189345903
salivary gland3 / 20155148
skin9 / 21057442
spleen0 / 539520 
stomach10 / 96619103
testis39 / 330442118
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus29 / 232878124
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200884_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.8
Adipocyte52.1
AdrenalCortex61.65
Adrenalgland86.9
Amygdala1076.95
Appendix157.25
AtrioventricularNode18.7
BDCA4+_DentriticCells8.75
Bonemarrow10.7
BronchialEpithelialCells19.55
CD105+_Endothelial10.65
CD14+_Monocytes11.7
CD19+_BCells(neg._sel.)8.95
CD33+_Myeloid9.7
CD34+12.7
CD4+_Tcells11.95
CD56+_NKCells14.45
CD71+_EarlyErythroid10.2
CD8+_Tcells10.65
CardiacMyocytes13.55
Caudatenucleus1540.3
Cerebellum1301.95
CerebellumPeduncles1863.7
CiliaryGanglion29.15
CingulateCortex1524.8
Colorectaladenocarcinoma138.1
DorsalRootGanglion38.55
FetalThyroid159.4
Fetalbrain480.9
Fetalliver16.9
Fetallung332.25
GlobusPallidus566.2
Heart512.1
Hypothalamus1645.55
Kidney61.6
Leukemia_chronicMyelogenousK-562217.05
Leukemia_promyelocytic-HL-609.5
Leukemialymphoblastic(MOLT-4)8.75
Liver14.25
Lung255.1
Lymphnode9.45
Lymphoma_burkitts(Daudi)13.75
Lymphoma_burkitts(Raji)28.8
MedullaOblongata1232.65
OccipitalLobe1189.8
OlfactoryBulb120.15
Ovary30.8
Pancreas76.1
PancreaticIslet54.45
ParietalLobe1248.2
Pituitary85.2
Placenta15.15
Pons871.7
PrefrontalCortex2541.9
Prostate3272.15
Salivarygland20.7
SkeletalMuscle12.5
Skin15.9
SmoothMuscle8.15
Spinalcord647.65
SubthalamicNucleus695.6
SuperiorCervicalGanglion58.3
TemporalLobe1134.6
Testis398.65
TestisGermCell338.05
TestisIntersitial168.3
TestisLeydigCell191.7
TestisSeminiferousTubule204.05
Thalamus1656.35
Thymus8.55
Thyroid455.75
Tongue62.15
Tonsil10.6
Trachea50.4
TrigeminalGanglion34.4
Uterus297.15
UterusCorpus17
WholeBlood10.75
Wholebrain2143.05
colon368.15
pineal_day3734.74
pineal_night2902.14
retina1422.825
small_intestine129.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P25674
  • 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
Amygdala9.74 ± 0.5
Basal Forebrain10.1 ± 0.19
Basal Part of Pons10.41 ± 0.35
Cerebellar Cortex10.24 ± 0.44
Cerebellar Nuclei9.99 ± 0.34
Claustrum9.23 ± 0.76
Epithalamus10.36 ± 0.46
Frontal Lobe10.17 ± 0.47
Globus Pallidus9.61 ± 0.19
Hypothalamus9.78 ± 0.32
Insula10.04 ± 0.37
Limbic Lobe9.68 ± 0.68
Mesencephalon9.85 ± 0.46
Myelencephalon9.98 ± 0.54
Occipital Lobe9.66 ± 0.51
Parietal Lobe10.1 ± 0.55
Pontine Tegmentum9.92 ± 0.44
Striatum9.95 ± 0.54
Subthalamus10.47 ± 0.06
Temporal Lobe10.07 ± 0.45
Thalamus10.15 ± 0.4
White Matter8.37 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CkbCBCerebellum100
100
CkbCTXCerebral cortex100
100
CkbHIPHippocampal region100
100
CkbHPFHippocampal formation100
100
CkbHYHypothalamus100
100
CkbLSXLateral septal complex100
100
CkbMBMidbrain100
100
CkbMYMedulla100
100
CkbOLFOlfactory bulb100
100
CkbPPons100
100
CkbPALPallidum100
100
CkbRHPRetrohippocampal region100
100
CkbsAMYStriatum-like amygdalar nuclei100
100
CkbSTRStriatum100
100
CkbSTRdStriatum dorsal region100
100
CkbSTRvStriatum ventral region100
100
CkbTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KCRB_HUMAN_108 23 108 130 TDLNPDNLQGGDDLDPNYVLSSR PRIDE
KCRB_HUMAN_11 21 11 31 LRFPAEDEFPDLSAHNNHMAK PRIDE
KCRB_HUMAN_152 20 152 171 AIEKLAVEALSSLDGDLAGR PRIDE
KCRB_HUMAN_156 16 156 171 LAVEALSSLDGDLAGR PRIDE
KCRB_HUMAN_157 16 157 172 LAVEALSSLDGDLAGR PRIDE
KCRB_HUMAN_173 37 173 209 YYALKSMTEAEQQQLIDDHFLFDKPVSPLLLASGMAR PRIDE
KCRB_HUMAN_177 32 177 208 SMTEAEQQQLIDDHFLFDKPVSPLLLASGMAR PRIDE
KCRB_HUMAN_2 12 2 13 PFSNSHNALKLR PRIDE
KCRB_HUMAN_210 6 210 215 DWPDAR PRIDE
KCRB_HUMAN_224 13 224 236 TFLVWVNEEDHLR PRIDE
KCRB_HUMAN_253 13 253 265 FCTGLTQIETLFK PRIDE
KCRB_HUMAN_299 6 299 304 LPNLGK PRIDE
KCRB_HUMAN_32 11 32 42 VLTPELYAELR PRIDE
KCRB_HUMAN_321 21 321 341 GTGGVDTAAVGGVFDVSNADR PRIDE
KCRB_HUMAN_33 11 33 43 VLTPELYAELR PRIDE
KCRB_HUMAN_341 17 341 357 LGFSEVELVQMVVDGVK PRIDE
KCRB_HUMAN_342 17 342 358 LGFSEVELVQMVVDGVK PRIDE
KCRB_HUMAN_358 8 358 365 LLIEMEQR PRIDE
KCRB_HUMAN_359 8 359 366 LLIEMEQR PRIDE
KCRB_HUMAN_36 8 36 43 PELYAELR PRIDE
KCRB_HUMAN_366 15 366 380 LEQGQAIDDLMPAQK PRIDE
KCRB_HUMAN_367 15 367 381 LEQGQAIDDLMPAQK PRIDE
PAp00000340 21 76 96 AGDEESYEVFKDLFDPIIEDR 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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