AutismKB 2.0

Annotation Detail for CMPK2


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Basic Information Top
Gene Symbol:CMPK2 ( TMPK2,TYKi,UMP-CMPK2 )
Gene Full Name: cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial
Band: 2p25.2
Quick LinksEntrez ID:129607; OMIM: 611787; Uniprot ID:CMPK2_HUMAN; ENSEMBL ID: ENSG00000134326; HGNC ID: 27015
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 
fetus15 / 56401226
neonate0 / 310970 
infant1 / 2362042
juvenile5 / 5555689
adult36 / 193912118
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 tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia34 / 95842354
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal51 / 336030715
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer14 / 102680136
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder4 / 29757134
blood7 / 12347856
bone0 / 716550 
bone marrow30 / 48801614
brain20 / 110098918
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine6 / 23447225
kidney1 / 2117774
larynx0 / 241450 
liver2 / 2077439
lung3 / 3369748
lymph0 / 442700 
lymph node2 / 9161021
mammary gland3 / 15327119
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate14 / 18934573
salivary gland4 / 20155198
skin0 / 2105740 
spleen0 / 539520 
stomach3 / 9661931
testis7 / 33044221
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1289_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
Amygdala2.95 ± 0.98
Basal Forebrain2.6 ± 0.58
Basal Part of Pons2.33 ± 0.6
Cerebellar Cortex2.17 ± 0.33
Cerebellar Nuclei3.01 ± 0.57
Claustrum2.64 ± 0.71
Epithalamus2.93 ± 0.68
Frontal Lobe2.71 ± 0.7
Globus Pallidus3.57 ± 0.34
Hypothalamus2.66 ± 0.53
Insula2.93 ± 0.54
Limbic Lobe2.96 ± 0.56
Mesencephalon2.94 ± 0.8
Myelencephalon2.9 ± 0.77
Occipital Lobe3.27 ± 0.69
Parietal Lobe2.84 ± 0.66
Pontine Tegmentum3.11 ± 0.64
Striatum4.03 ± 0.34
Subthalamus3.26 ± 0.34
Temporal Lobe2.7 ± 0.71
Thalamus2.78 ± 0.68
White Matter2.79 ± 0.73
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
TykiCBCerebellum0
0
TykiCTXCerebral cortex0
0
TykiHIPHippocampal region0
0
TykiHPFHippocampal formation0
0
TykiHYHypothalamus0
0
TykiLSXLateral septal complex0
0
TykiMBMidbrain0
0
TykiMYMedulla0
0
TykiOLFOlfactory bulb0
0
TykiPPons0
0
TykiPALPallidum0
0
TykiRHPRetrohippocampal region0
0
TykisAMYStriatum-like amygdalar nuclei0
0
TykiSTRStriatum0
0
TykiSTRdStriatum dorsal region0
0
TykiSTRvStriatum ventral region0
0
TykiTHThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005532 15 417 431 MENPGCHVVDASPSR 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