AutismKB 2.0

Annotation Detail for CHMP2B


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Basic Information Top
Gene Symbol:CHMP2B ( CHMP2.5,DKFZp564O123,DMT1,VPS2-2,VPS2B )
Gene Full Name: chromatin modifying protein 2B
Band: 3p11.2
Quick LinksEntrez ID:25978; OMIM: 609512; Uniprot ID:CHM2B_HUMAN; ENSEMBL ID: ENSG00000083937; HGNC ID: 24537
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
blastocyst3 / 6231948
fetus25 / 56401244
neonate2 / 3109764
infant1 / 2362042
juvenile4 / 5555671
adult139 / 193912171
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor12 / 94178127
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor4 / 17290231
gastrointestinal tumor6 / 11936950
germ cell tumor24 / 26384590
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia2 / 9584220
liver tumor7 / 9635972
lung tumor2 / 10312719
lymphoma7 / 7175597
non-neoplasia2 / 9725020
normal186 / 336030755
ovarian tumor6 / 7668278
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer18 / 102680175
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder2 / 2975767
blood7 / 12347856
bone2 / 7165527
bone marrow5 / 48801102
brain56 / 110098950
cervix1 / 4817120
connective tissue10 / 14925566
ear2 / 16212123
embryonic tissue6 / 21572227
esophagus5 / 20209247
eye8 / 21105437
heart1 / 8962611
intestine6 / 23447225
kidney18 / 21177784
larynx0 / 241450 
liver12 / 20774357
lung17 / 33697450
lymph5 / 44270112
lymph node6 / 9161065
mammary gland14 / 15327191
mouth3 / 6705244
muscle11 / 107715102
nerve1 / 1576863
ovary7 / 10205168
pancreas10 / 21481246
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta31 / 280825110
prostate27 / 189345142
salivary gland0 / 201550 
skin10 / 21057447
spleen1 / 5395218
stomach6 / 9661962
testis7 / 33044221
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus15 / 23287864
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202538_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts66.55
Adipocyte52.75
AdrenalCortex41.35
Adrenalgland30.8
Amygdala135.6
Appendix70.6
AtrioventricularNode40.65
BDCA4+_DentriticCells47.85
Bonemarrow41.75
BronchialEpithelialCells85.8
CD105+_Endothelial47.7
CD14+_Monocytes66.3
CD19+_BCells(neg._sel.)90.5
CD33+_Myeloid83.85
CD34+46.45
CD4+_Tcells42.45
CD56+_NKCells62.1
CD71+_EarlyErythroid44.1
CD8+_Tcells45.7
CardiacMyocytes57.1
Caudatenucleus49.4
Cerebellum43.3
CerebellumPeduncles48
CiliaryGanglion36.25
CingulateCortex48.6
Colorectaladenocarcinoma54.95
DorsalRootGanglion44.1
FetalThyroid56.9
Fetalbrain71.4
Fetalliver45.85
Fetallung48.15
GlobusPallidus41.6
Heart45.75
Hypothalamus88.1
Kidney41.45
Leukemia_chronicMyelogenousK-56245.35
Leukemia_promyelocytic-HL-6041.8
Leukemialymphoblastic(MOLT-4)44.3
Liver54.05
Lung28.65
Lymphnode47.35
Lymphoma_burkitts(Daudi)48.3
Lymphoma_burkitts(Raji)62.7
MedullaOblongata55.1
OccipitalLobe64.4
OlfactoryBulb42.05
Ovary39.8
Pancreas43.2
PancreaticIslet71.8
ParietalLobe62.35
Pituitary108.6
Placenta59.8
Pons50.75
PrefrontalCortex68.7
Prostate77
Salivarygland42.7
SkeletalMuscle58.2
Skin44.8
SmoothMuscle66.05
Spinalcord125.9
SubthalamicNucleus42.1
SuperiorCervicalGanglion104.7
TemporalLobe47.85
Testis37.35
TestisGermCell48.25
TestisIntersitial46.4
TestisLeydigCell52.5
TestisSeminiferousTubule42.9
Thalamus54.35
Thymus20
Thyroid177.9
Tongue52.25
Tonsil49
Trachea51.15
TrigeminalGanglion40.1
Uterus55.25
UterusCorpus72.1
WholeBlood69.95
Wholebrain59.15
colon111.2
pineal_day42.06
pineal_night47.16
retina87.9
small_intestine52.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P212535
  • 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
Amygdala6.3 ± 0.46
Basal Forebrain6.32 ± 0.28
Basal Part of Pons6.54 ± 0.32
Cerebellar Cortex6.11 ± 0.2
Cerebellar Nuclei6.65 ± 0.67
Claustrum5.87 ± 0.67
Epithalamus6.63 ± 0.45
Frontal Lobe6.57 ± 0.35
Globus Pallidus7.17 ± 0.22
Hypothalamus6.64 ± 0.3
Insula6.46 ± 0.44
Limbic Lobe6.27 ± 0.45
Mesencephalon6.5 ± 0.46
Myelencephalon6.42 ± 0.44
Occipital Lobe5.96 ± 0.51
Parietal Lobe6.45 ± 0.37
Pontine Tegmentum6.5 ± 0.34
Striatum6.32 ± 0.5
Subthalamus6.93 ± 0.61
Temporal Lobe6.45 ± 0.31
Thalamus6.43 ± 0.34
White Matter8.2 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Chmp2bCBCerebellum10.85
13.88
Chmp2bCTXCerebral cortex8.14
6.44
Chmp2bHIPHippocampal region19.21
20.52
Chmp2bHPFHippocampal formation15.54
15.35
Chmp2bHYHypothalamus0.7
0.56
Chmp2bLSXLateral septal complex0.31
0.29
Chmp2bMBMidbrain1.8
2.27
Chmp2bMYMedulla4.25
5.37
Chmp2bOLFOlfactory bulb17.62
16.85
Chmp2bPPons3.43
4.64
Chmp2bPALPallidum0.54
0.56
Chmp2bRHPRetrohippocampal region8.35
7.23
Chmp2bsAMYStriatum-like amygdalar nuclei1.72
1.8
Chmp2bSTRStriatum1.21
0.99
Chmp2bSTRdStriatum dorsal region0.95
0.8
Chmp2bSTRvStriatum ventral region2.27
1.49
Chmp2bTHThalamus2.16
2.14
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CHM2B_HUMAN_196 10 196 205 ATISDEEIER PRIDE
CHM2B_HUMAN_2 18 2 19 ASLFKKKTVDDVIKEQNR PRIDE

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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