AutismKB 2.0

Annotation Detail for CKMT1A


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Basic Information Top
Gene Symbol:CKMT1A ( CKMT1,CKMT1B,FLJ50967,UMTCK )
Gene Full Name: creatine kinase, mitochondrial 1A
Band: 15q15.3
Quick LinksEntrez ID:548596; OMIM: 613415; Uniprot ID:KCRU_HUMAN; ENSEMBL ID: ENSG00000223572; HGNC ID: 31736
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 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult25 / 193912112
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal28 / 33603078
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
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 
ascites1 / 4001524
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain11 / 11009899
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart2 / 8962622
intestine7 / 23447229
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta4 / 28082514
prostate2 / 18934510
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202712_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts9
Adipocyte13.35
AdrenalCortex8.65
Adrenalgland6.4
Amygdala109.6
Appendix8.2
AtrioventricularNode6.7
BDCA4+_DentriticCells7.65
Bonemarrow7.95
BronchialEpithelialCells405.2
CD105+_Endothelial7.5
CD14+_Monocytes7.9
CD19+_BCells(neg._sel.)6.35
CD33+_Myeloid9.3
CD34+8.55
CD4+_Tcells7.9
CD56+_NKCells8.7
CD71+_EarlyErythroid9
CD8+_Tcells6.9
CardiacMyocytes11.3
Caudatenucleus69.65
Cerebellum287.95
CerebellumPeduncles792.9
CiliaryGanglion6.85
CingulateCortex215.95
Colorectaladenocarcinoma7.8
DorsalRootGanglion10.6
FetalThyroid10.85
Fetalbrain42.45
Fetalliver7.05
Fetallung6.05
GlobusPallidus120.75
Heart11.85
Hypothalamus246
Kidney6
Leukemia_chronicMyelogenousK-5626.8
Leukemia_promyelocytic-HL-606.75
Leukemialymphoblastic(MOLT-4)5.95
Liver9.35
Lung8.15
Lymphnode6.4
Lymphoma_burkitts(Daudi)9.4
Lymphoma_burkitts(Raji)10.75
MedullaOblongata163.7
OccipitalLobe184.05
OlfactoryBulb5.9
Ovary6
Pancreas17.9
PancreaticIslet18.15
ParietalLobe114.1
Pituitary19.4
Placenta24.35
Pons126.55
PrefrontalCortex201.8
Prostate9.25
Salivarygland19.95
SkeletalMuscle14.55
Skin14.75
SmoothMuscle8.5
Spinalcord21.6
SubthalamicNucleus126.3
SuperiorCervicalGanglion8.75
TemporalLobe191.35
Testis6.45
TestisGermCell7.15
TestisIntersitial10.15
TestisLeydigCell7.45
TestisSeminiferousTubule7.55
Thalamus244.7
Thymus5.85
Thyroid9.25
Tongue39.4
Tonsil31.15
Trachea19
TrigeminalGanglion13.9
Uterus6.1
UterusCorpus7.95
WholeBlood8.1
Wholebrain241.2
colon415
pineal_day11.92
pineal_night9.14
retina23.325
small_intestine303.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P163227
  • 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
Amygdala10.99 ± 0.49
Basal Forebrain10.95 ± 0.31
Basal Part of Pons12.2 ± 0.14
Cerebellar Cortex12.06 ± 0.17
Cerebellar Nuclei11.65 ± 0.46
Claustrum11.18 ± 0.29
Epithalamus9.99 ± 1.11
Frontal Lobe11.68 ± 0.46
Globus Pallidus10.25 ± 0.46
Hypothalamus11.72 ± 0.3
Insula11.58 ± 0.25
Limbic Lobe11.39 ± 0.62
Mesencephalon11.22 ± 0.54
Myelencephalon11.37 ± 0.83
Occipital Lobe11.29 ± 0.42
Parietal Lobe11.58 ± 0.49
Pontine Tegmentum11.48 ± 0.57
Striatum10.23 ± 0.64
Subthalamus11.81 ± 0.15
Temporal Lobe11.67 ± 0.35
Thalamus11.93 ± 0.48
White Matter8.68 ± 0.5
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KCRU_HUMAN_243 6 243 248 DWPDAR PRIDE
KCRU_HUMAN_256 13 256 268 SFLIWVNEEDHTR PRIDE
KCRU_HUMAN_309 16 309 324 LGYILTCPSNLGTGLR PRIDE
KCRU_HUMAN_310 16 310 325 LGYILTCPSNLGTGLR PRIDE
KCRU_HUMAN_374 24 374 397 LGKSEVELVQLVIDGVNYLIDCER PRIDE
KCRU_HUMAN_377 21 377 397 SEVELVQLVIDGVNYLIDCER PRIDE
PAp00003190 25 301 325 GWEFMWNERLGYILTCPSNLGTGLR 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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