AutismKB 2.0

Annotation Detail for CHMP2A


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Basic Information Top
Gene Symbol:CHMP2A ( BC-2,BC2,CHMP2,VPS2,VPS2A )
Gene Full Name: chromatin modifying protein 2A
Band: 19q13.43
Quick LinksEntrez ID:27243; OMIM: 610893; Uniprot ID:CHM2A_HUMAN; ENSEMBL ID: ENSG00000130724; HGNC ID: 30216
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 body2 / 7076128
blastocyst2 / 6231932
fetus18 / 56401231
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult93 / 193912147
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) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma9 / 82823108
colorectal tumor8 / 11424670
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor13 / 26384549
glioma15 / 106883140
head and neck tumor4 / 13630229
kidney tumor5 / 6895972
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor8 / 10312777
lymphoma5 / 7175569
non-neoplasia2 / 9725020
normal140 / 336030741
ovarian tumor4 / 7668252
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor19 / 124949152
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone6 / 7165583
bone marrow3 / 4880161
brain52 / 110098947
cervix2 / 4817141
connective tissue4 / 14925526
ear2 / 16212123
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye12 / 21105456
heart5 / 8962655
intestine13 / 23447255
kidney22 / 211777103
larynx2 / 2414582
liver12 / 20774357
lung30 / 33697489
lymph4 / 4427090
lymph node4 / 9161043
mammary gland7 / 15327145
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary6 / 10205158
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta20 / 28082571
prostate12 / 18934563
salivary gland0 / 201550 
skin22 / 210574104
spleen2 / 5395237
stomach6 / 9661962
testis3 / 3304429
thymus1 / 8113112
thyroid2 / 4747342
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord1 / 1368073
uterus11 / 23287847
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202121_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts909.35
Adipocyte159.95
AdrenalCortex140.65
Adrenalgland212.75
Amygdala231.55
Appendix64
AtrioventricularNode44.25
BDCA4+_DentriticCells600.9
Bonemarrow162.95
BronchialEpithelialCells347.3
CD105+_Endothelial373.4
CD14+_Monocytes1172.8
CD19+_BCells(neg._sel.)448
CD33+_Myeloid1002.9
CD34+440.7
CD4+_Tcells300.1
CD56+_NKCells745.2
CD71+_EarlyErythroid990.75
CD8+_Tcells257.85
CardiacMyocytes257
Caudatenucleus161.2
Cerebellum85.75
CerebellumPeduncles117.1
CiliaryGanglion20.3
CingulateCortex151.75
Colorectaladenocarcinoma537.8
DorsalRootGanglion52.25
FetalThyroid219.4
Fetalbrain124.85
Fetalliver115.45
Fetallung147.9
GlobusPallidus75.55
Heart513.1
Hypothalamus227.1
Kidney155.3
Leukemia_chronicMyelogenousK-562136.65
Leukemia_promyelocytic-HL-60135.7
Leukemialymphoblastic(MOLT-4)101.15
Liver566.75
Lung519.3
Lymphnode118.35
Lymphoma_burkitts(Daudi)68.4
Lymphoma_burkitts(Raji)243.45
MedullaOblongata109
OccipitalLobe132.75
OlfactoryBulb135.65
Ovary113.45
Pancreas109.8
PancreaticIslet367.2
ParietalLobe140.55
Pituitary179.5
Placenta233.75
Pons83.95
PrefrontalCortex285.7
Prostate487.2
Salivarygland152.25
SkeletalMuscle100.25
Skin110.25
SmoothMuscle368.65
Spinalcord240.8
SubthalamicNucleus100.4
SuperiorCervicalGanglion51.1
TemporalLobe125.35
Testis211.8
TestisGermCell132.85
TestisIntersitial118.4
TestisLeydigCell110.35
TestisSeminiferousTubule105.2
Thalamus176.6
Thymus208.65
Thyroid584.55
Tongue116.2
Tonsil105.5
Trachea117.9
TrigeminalGanglion26.15
Uterus171.7
UterusCorpus91.3
WholeBlood931.75
Wholebrain375.45
colon599.15
pineal_day651.08
pineal_night623.18
retina484.9
small_intestine604.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15340_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
Amygdala10.27 ± 0.29
Basal Forebrain10.28 ± 0.11
Basal Part of Pons10.46 ± 0.16
Cerebellar Cortex10.1 ± 0.25
Cerebellar Nuclei10.3 ± 0.26
Claustrum10.07 ± 0.43
Epithalamus10.55 ± 0.25
Frontal Lobe10.4 ± 0.31
Globus Pallidus10.71 ± 0.23
Hypothalamus10.39 ± 0.29
Insula10.47 ± 0.18
Limbic Lobe10.16 ± 0.43
Mesencephalon10.25 ± 0.25
Myelencephalon10.29 ± 0.4
Occipital Lobe9.86 ± 0.38
Parietal Lobe10.25 ± 0.29
Pontine Tegmentum10.23 ± 0.17
Striatum10.44 ± 0.27
Subthalamus10.54 ± 0.03
Temporal Lobe10.39 ± 0.31
Thalamus10.26 ± 0.22
White Matter10.77 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Chmp2aCBCerebellum74.69
91.62
Chmp2aCTXCerebral cortex100
100
Chmp2aHIPHippocampal region100
100
Chmp2aHPFHippocampal formation100
100
Chmp2aHYHypothalamus100
66.12
Chmp2aLSXLateral septal complex100
51.25
Chmp2aMBMidbrain100
70
Chmp2aMYMedulla100
83.42
Chmp2aOLFOlfactory bulb100
98.57
Chmp2aPPons91.79
74.24
Chmp2aPALPallidum95.65
57.37
Chmp2aRHPRetrohippocampal region100
100
Chmp2asAMYStriatum-like amygdalar nuclei100
71.45
Chmp2aSTRStriatum100
100
Chmp2aSTRdStriatum dorsal region100
100
Chmp2aSTRvStriatum ventral region100
100
Chmp2aTHThalamus96.87
55.88
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CHM2A_HUMAN_198 18 198 215 AEAAASALADADADLEER PRIDE
PAp00035135 19 197 215 KAEAAASALADADADLEER 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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