AutismKB 2.0

Annotation Detail for CMAS


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Basic Information Top
Gene Symbol:CMAS ( - )
Gene Full Name: cytidine monophosphate N-acetylneuraminic acid synthetase
Band: 12p12.1
Quick LinksEntrez ID:55907; OMIM: 603316; Uniprot ID:NEUA_HUMAN; ENSEMBL ID: ENSG00000111726; HGNC ID: 18290
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 body5 / 7076170
blastocyst3 / 6231948
fetus35 / 56401262
neonate0 / 310970 
infant4 / 23620169
juvenile9 / 55556161
adult126 / 193912164
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor17 / 114246148
esophageal tumor0 / 172900 
gastrointestinal tumor12 / 119369100
germ cell tumor25 / 26384594
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia11 / 95842114
liver tumor5 / 9635951
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia9 / 9725092
normal202 / 336030760
ovarian tumor2 / 7668226
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer4 / 10268038
retinoblastoma4 / 4635686
skin tumor7 / 12494956
soft tissue/muscle tissue tumor23 / 125191183
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites7 / 40015174
bladder1 / 2975733
blood12 / 12347897
bone4 / 7165555
bone marrow1 / 4880120
brain58 / 110098952
cervix1 / 4817120
connective tissue18 / 149255120
ear3 / 16212185
embryonic tissue18 / 21572283
esophagus1 / 2020949
eye10 / 21105447
heart2 / 8962622
intestine35 / 234472149
kidney9 / 21177742
larynx0 / 241450 
liver12 / 20774357
lung14 / 33697441
lymph1 / 4427022
lymph node5 / 9161054
mammary gland3 / 15327119
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary3 / 10205129
pancreas16 / 21481274
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland3 / 16585180
placenta17 / 28082560
prostate5 / 18934526
salivary gland0 / 201550 
skin8 / 21057437
spleen0 / 539520 
stomach5 / 9661951
testis53 / 330442160
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218111_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts63
Adipocyte18.5
AdrenalCortex26.55
Adrenalgland24.5
Amygdala157.8
Appendix28.5
AtrioventricularNode19.3
BDCA4+_DentriticCells24.55
Bonemarrow26.15
BronchialEpithelialCells72.35
CD105+_Endothelial69.6
CD14+_Monocytes21.9
CD19+_BCells(neg._sel.)22.25
CD33+_Myeloid33.55
CD34+46.35
CD4+_Tcells17.1
CD56+_NKCells24.25
CD71+_EarlyErythroid396.25
CD8+_Tcells22.15
CardiacMyocytes36.4
Caudatenucleus18.5
Cerebellum13.95
CerebellumPeduncles27.55
CiliaryGanglion21.55
CingulateCortex37.45
Colorectaladenocarcinoma104
DorsalRootGanglion17.9
FetalThyroid19.5
Fetalbrain34.85
Fetalliver61.8
Fetallung22.6
GlobusPallidus18
Heart28.05
Hypothalamus67.15
Kidney15.05
Leukemia_chronicMyelogenousK-56293.45
Leukemia_promyelocytic-HL-6016.1
Leukemialymphoblastic(MOLT-4)13.6
Liver24.2
Lung20.65
Lymphnode13.5
Lymphoma_burkitts(Daudi)30.65
Lymphoma_burkitts(Raji)77.35
MedullaOblongata15.3
OccipitalLobe45.2
OlfactoryBulb14.95
Ovary14.45
Pancreas18.85
PancreaticIslet25.4
ParietalLobe24.8
Pituitary27.75
Placenta22.35
Pons21.35
PrefrontalCortex54.05
Prostate26.45
Salivarygland15.3
SkeletalMuscle27.7
Skin18.3
SmoothMuscle28.5
Spinalcord20.1
SubthalamicNucleus22.95
SuperiorCervicalGanglion27.95
TemporalLobe20.45
Testis29.05
TestisGermCell119.7
TestisIntersitial35
TestisLeydigCell31.9
TestisSeminiferousTubule35.05
Thalamus51.35
Thymus10.7
Thyroid25.4
Tongue20.65
Tonsil22.1
Trachea12.85
TrigeminalGanglion24.65
Uterus22
UterusCorpus19
WholeBlood16.8
Wholebrain77.8
colon172.15
pineal_day51.58
pineal_night61.06
retina23.875
small_intestine48.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7787_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
Amygdala10.65 ± 0.27
Basal Forebrain10.39 ± 0.24
Basal Part of Pons10.53 ± 0.32
Cerebellar Cortex10.08 ± 0.26
Cerebellar Nuclei10.65 ± 0.35
Claustrum10.95 ± 0.31
Epithalamus10.03 ± 0.41
Frontal Lobe10.63 ± 0.31
Globus Pallidus10.2 ± 0.64
Hypothalamus10.81 ± 0.25
Insula10.63 ± 0.24
Limbic Lobe10.69 ± 0.52
Mesencephalon10.66 ± 0.55
Myelencephalon10.43 ± 0.47
Occipital Lobe10.11 ± 0.57
Parietal Lobe10.53 ± 0.37
Pontine Tegmentum10.51 ± 0.44
Striatum10.06 ± 0.63
Subthalamus10.99 ± 0.24
Temporal Lobe10.65 ± 0.29
Thalamus10.3 ± 0.26
White Matter9.79 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CmasCBCerebellum60.24
100
CmasCTXCerebral cortex100
100
CmasHIPHippocampal region100
100
CmasHPFHippocampal formation100
100
CmasHYHypothalamus100
100
CmasLSXLateral septal complex100
100
CmasMBMidbrain100
100
CmasMYMedulla100
100
CmasOLFOlfactory bulb100
100
CmasPPons100
100
CmasPALPallidum100
100
CmasRHPRetrohippocampal region100
100
CmassAMYStriatum-like amygdalar nuclei100
100
CmasSTRStriatum100
100
CmasSTRdStriatum dorsal region100
100
CmasSTRvStriatum ventral region100
100
CmasTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NEUA_HUMAN_1 16 1 16 MDSVEKGAATSVSNPR PRIDE
NEUA_HUMAN_189 13 189 201 EVTEPLNLNPAKR PRIDE
PAp00011349 17 383 399 RVGLSGAPADACSTAQK 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