AutismKB 2.0

Annotation Detail for CHMP4A


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Basic Information Top
Gene Symbol:CHMP4A ( C14orf123,CHMP4,CHMP4B,FLJ61658,HSPC134,MGC142093,MGC142095,SNF7,SNF7-1,Shax2,VPS32A )
Gene Full Name: chromatin modifying protein 4A
Band: 14q12
Quick LinksEntrez ID:29082; OMIM: 610051; Uniprot ID:CHM4A_HUMAN; ENSEMBL ID: ENSG00000100931; HGNC ID: 20274
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 body4 / 7076156
blastocyst4 / 6231964
fetus7 / 56401212
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult72 / 193912137
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma8 / 8282396
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor6 / 13630244
kidney tumor5 / 6895972
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor12 / 103127116
lymphoma15 / 71755209
non-neoplasia1 / 9725010
normal89 / 336030726
ovarian tumor8 / 76682104
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder2 / 2975767
blood4 / 12347832
bone5 / 7165569
bone marrow0 / 488010 
brain21 / 110098919
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus1 / 2020949
eye5 / 21105423
heart2 / 8962622
intestine8 / 23447234
kidney5 / 21177723
larynx2 / 2414582
liver5 / 20774324
lung21 / 33697462
lymph9 / 44270203
lymph node1 / 9161010
mammary gland9 / 15327158
mouth0 / 670520 
muscle3 / 10771527
nerve2 / 15768126
ovary12 / 102051117
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx7 / 41328169
pituitary gland0 / 165850 
placenta4 / 28082514
prostate18 / 18934595
salivary gland2 / 2015599
skin6 / 21057428
spleen3 / 5395255
stomach4 / 9661941
testis2 / 3304426
thymus1 / 8113112
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord1 / 1368073
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218571_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts287.15
Adipocyte40.7
AdrenalCortex59.6
Adrenalgland48.2
Amygdala43.4
Appendix62.1
AtrioventricularNode47.2
BDCA4+_DentriticCells236.7
Bonemarrow53.35
BronchialEpithelialCells108.15
CD105+_Endothelial280.3
CD14+_Monocytes282.1
CD19+_BCells(neg._sel.)343.85
CD33+_Myeloid215.3
CD34+229.15
CD4+_Tcells269.75
CD56+_NKCells389.3
CD71+_EarlyErythroid149.2
CD8+_Tcells276.2
CardiacMyocytes58.1
Caudatenucleus57.8
Cerebellum27.65
CerebellumPeduncles49.3
CiliaryGanglion32.2
CingulateCortex53.4
Colorectaladenocarcinoma34.15
DorsalRootGanglion44.8
FetalThyroid72.95
Fetalbrain25.75
Fetalliver34.25
Fetallung42.4
GlobusPallidus33.3
Heart49.1
Hypothalamus151.05
Kidney49.55
Leukemia_chronicMyelogenousK-56243.45
Leukemia_promyelocytic-HL-6071.3
Leukemialymphoblastic(MOLT-4)80.15
Liver36.35
Lung63.8
Lymphnode79.8
Lymphoma_burkitts(Daudi)121.7
Lymphoma_burkitts(Raji)74.35
MedullaOblongata53.3
OccipitalLobe52.45
OlfactoryBulb54.7
Ovary32.2
Pancreas45.4
PancreaticIslet65.6
ParietalLobe41.15
Pituitary47.9
Placenta37.85
Pons52.9
PrefrontalCortex105.95
Prostate95.4
Salivarygland51.6
SkeletalMuscle78.55
Skin40.5
SmoothMuscle54.15
Spinalcord125.45
SubthalamicNucleus36.05
SuperiorCervicalGanglion63.8
TemporalLobe61.3
Testis25.2
TestisGermCell41.6
TestisIntersitial33.25
TestisLeydigCell37.5
TestisSeminiferousTubule23.7
Thalamus92.85
Thymus104.3
Thyroid64.5
Tongue56.35
Tonsil79.15
Trachea48.9
TrigeminalGanglion82.5
Uterus30.05
UterusCorpus47.75
WholeBlood134.3
Wholebrain36
colon63.3
pineal_day130.56
pineal_night129.08
retina68.05
small_intestine59.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P142024
  • 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
Amygdala8.9 ± 0.27
Basal Forebrain9.19 ± 0.16
Basal Part of Pons8.81 ± 0.23
Cerebellar Cortex8.75 ± 0.15
Cerebellar Nuclei9 ± 0.29
Claustrum8.57 ± 0.48
Epithalamus9.1 ± 0.24
Frontal Lobe9.04 ± 0.29
Globus Pallidus9.88 ± 0.18
Hypothalamus9.15 ± 0.16
Insula9.13 ± 0.26
Limbic Lobe8.79 ± 0.39
Mesencephalon9.08 ± 0.37
Myelencephalon8.97 ± 0.3
Occipital Lobe8.5 ± 0.3
Parietal Lobe8.99 ± 0.3
Pontine Tegmentum9.05 ± 0.28
Striatum9.25 ± 0.22
Subthalamus9.31 ± 0.1
Temporal Lobe8.99 ± 0.28
Thalamus9.06 ± 0.24
White Matter9.68 ± 0.3
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00065702 14 134 147 EAIENATTNAEVLR 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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