AutismKB 2.0

Annotation Detail for CHMP1A


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Basic Information Top
Gene Symbol:CHMP1A ( CHMP1,KIAA0047,PCOLN3,PRSM1,Vps46A )
Gene Full Name: chromatin modifying protein 1A
Band: 16q24.3
Quick LinksEntrez ID:5119; OMIM: 164010; Uniprot ID:CHM1A_HUMAN; ENSEMBL ID: ENSG00000131165; HGNC ID: 8740
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 body3 / 7076142
blastocyst7 / 62319112
fetus26 / 56401246
neonate0 / 310970 
infant2 / 2362084
juvenile6 / 55556107
adult153 / 193912178
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor3 / 3436687
chondrosarcoma4 / 8282348
colorectal tumor20 / 114246175
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor9 / 26384534
glioma14 / 106883130
head and neck tumor9 / 13630266
kidney tumor5 / 6895972
leukemia10 / 95842104
liver tumor7 / 9635972
lung tumor7 / 10312767
lymphoma20 / 71755278
non-neoplasia7 / 9725071
normal191 / 336030756
ovarian tumor1 / 7668213
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS30 / 125680238
prostate cancer5 / 10268048
retinoblastoma5 / 46356107
skin tumor13 / 124949104
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood18 / 123478145
bone3 / 7165541
bone marrow7 / 48801143
brain79 / 110098971
cervix14 / 48171290
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye24 / 211054113
heart2 / 8962622
intestine30 / 234472127
kidney7 / 21177733
larynx2 / 2414582
liver10 / 20774348
lung26 / 33697477
lymph11 / 44270248
lymph node3 / 9161032
mammary gland6 / 15327139
mouth3 / 6705244
muscle3 / 10771527
nerve1 / 1576863
ovary7 / 10205168
pancreas10 / 21481246
parathyroid1 / 2053948
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta37 / 280825131
prostate9 / 18934547
salivary gland1 / 2015549
skin17 / 21057480
spleen2 / 5395237
stomach16 / 96619165
testis13 / 33044239
thymus1 / 8113112
thyroid0 / 474730 
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord0 / 136800 
uterus18 / 23287877
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201933_at
Cell line Expression level Expression bar
721_B_lymphoblasts242.55
Adipocyte58.25
AdrenalCortex70.5
Adrenalgland49.35
Amygdala85.25
Appendix58.6
AtrioventricularNode52.5
BDCA4+_DentriticCells201.4
Bonemarrow60.3
BronchialEpithelialCells103.75
CD105+_Endothelial175.6
CD14+_Monocytes349.35
CD19+_BCells(neg._sel.)221.55
CD33+_Myeloid283.9
CD34+235.1
CD4+_Tcells142.6
CD56+_NKCells316.15
CD71+_EarlyErythroid199
CD8+_Tcells101.1
CardiacMyocytes111.35
Caudatenucleus45.55
Cerebellum42.15
CerebellumPeduncles64.6
CiliaryGanglion22.9
CingulateCortex52.85
Colorectaladenocarcinoma110.65
DorsalRootGanglion42.6
FetalThyroid81.95
Fetalbrain80.4
Fetalliver48
Fetallung53.55
GlobusPallidus51.2
Heart173.85
Hypothalamus70
Kidney57
Leukemia_chronicMyelogenousK-56294.45
Leukemia_promyelocytic-HL-6058.9
Leukemialymphoblastic(MOLT-4)88.65
Liver104.4
Lung171.05
Lymphnode61.25
Lymphoma_burkitts(Daudi)75.7
Lymphoma_burkitts(Raji)97.8
MedullaOblongata39.4
OccipitalLobe55.15
OlfactoryBulb47.55
Ovary39.6
Pancreas56.1
PancreaticIslet68.95
ParietalLobe70.05
Pituitary69.75
Placenta73.85
Pons66.35
PrefrontalCortex115.4
Prostate139.6
Salivarygland47.15
SkeletalMuscle79.45
Skin31.55
SmoothMuscle106.45
Spinalcord77.65
SubthalamicNucleus63.65
SuperiorCervicalGanglion50
TemporalLobe60.8
Testis100.6
TestisGermCell83.15
TestisIntersitial58.65
TestisLeydigCell59.4
TestisSeminiferousTubule76.65
Thalamus80.4
Thymus99.4
Thyroid223.25
Tongue68.05
Tonsil63.45
Trachea47.15
TrigeminalGanglion59.6
Uterus70.9
UterusCorpus37.8
WholeBlood139.4
Wholebrain101.6
colon83.7
pineal_day148.56
pineal_night172.18
retina90.775
small_intestine84.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P106694
  • 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
Amygdala8.24 ± 0.5
Basal Forebrain8.31 ± 0.18
Basal Part of Pons8.45 ± 0.21
Cerebellar Cortex8.19 ± 0.24
Cerebellar Nuclei8.01 ± 0.37
Claustrum8.25 ± 0.29
Epithalamus8.16 ± 0.21
Frontal Lobe8.46 ± 0.3
Globus Pallidus7.94 ± 0.23
Hypothalamus8.32 ± 0.22
Insula8.6 ± 0.18
Limbic Lobe8.55 ± 0.26
Mesencephalon8.25 ± 0.24
Myelencephalon8.36 ± 0.31
Occipital Lobe8 ± 0.32
Parietal Lobe8.26 ± 0.29
Pontine Tegmentum8.21 ± 0.35
Striatum8.08 ± 0.4
Subthalamus8.27 ± 0.16
Temporal Lobe8.52 ± 0.29
Thalamus8.2 ± 0.28
White Matter8.3 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pcoln3CBCerebellum16.2
23.04
Pcoln3CTXCerebral cortex22.49
20.71
Pcoln3HIPHippocampal region21.87
31.19
Pcoln3HPFHippocampal formation22.33
27.15
Pcoln3HYHypothalamus1.05
0.91
Pcoln3LSXLateral septal complex1.43
1.16
Pcoln3MBMidbrain2.59
3.25
Pcoln3MYMedulla9.43
13.99
Pcoln3OLFOlfactory bulb24.61
21.37
Pcoln3PPons5.47
8.06
Pcoln3PALPallidum3.77
4.51
Pcoln3RHPRetrohippocampal region23.84
21.87
Pcoln3sAMYStriatum-like amygdalar nuclei8.81
6.74
Pcoln3STRStriatum4.88
4.49
Pcoln3STRdStriatum dorsal region3.64
3.53
Pcoln3STRvStriatum ventral region9.19
8.21
Pcoln3THThalamus2.73
3.81
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CHM1A_HUMAN_1 9 1 9 MDDTLFQLK 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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