AutismKB 2.0

Annotation Detail for CHML


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Basic Information Top
Gene Symbol:CHML ( FLJ10071,FLJ13361,REP2 )
Gene Full Name: choroideremia-like (Rab escort protein 2)
Band: 1q43
Quick LinksEntrez ID:1122; OMIM: 118825; Uniprot ID:RAE2_HUMAN; ENSEMBL ID: ENSG00000203668; HGNC ID: 1941
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
fetus19 / 56401233
neonate0 / 310970 
infant3 / 23620127
juvenile0 / 555560 
adult38 / 193912119
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor7 / 26384526
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal67 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor5 / 12494940
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone4 / 7165555
bone marrow1 / 4880120
brain9 / 11009898
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine3 / 23447212
kidney3 / 21177714
larynx0 / 241450 
liver11 / 20774352
lung7 / 33697420
lymph0 / 442700 
lymph node3 / 9161032
mammary gland1 / 1532716
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta12 / 28082542
prostate4 / 18934521
salivary gland2 / 2015599
skin7 / 21057433
spleen0 / 539520 
stomach3 / 9661931
testis3 / 3304429
thymus2 / 8113124
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206079_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.85
Adipocyte5
AdrenalCortex5.75
Adrenalgland4.35
Amygdala5.3
Appendix5.8
AtrioventricularNode5.7
BDCA4+_DentriticCells5.3
Bonemarrow5.15
BronchialEpithelialCells4.85
CD105+_Endothelial5.05
CD14+_Monocytes5.35
CD19+_BCells(neg._sel.)5.35
CD33+_Myeloid6.45
CD34+6.35
CD4+_Tcells5.3
CD56+_NKCells5.7
CD71+_EarlyErythroid4.8
CD8+_Tcells4.75
CardiacMyocytes7.05
Caudatenucleus4.55
Cerebellum4.15
CerebellumPeduncles5.95
CiliaryGanglion5.05
CingulateCortex5.25
Colorectaladenocarcinoma5.1
DorsalRootGanglion4.55
FetalThyroid6.85
Fetalbrain5
Fetalliver4.5
Fetallung4.05
GlobusPallidus3.9
Heart6.75
Hypothalamus5.4
Kidney4.3
Leukemia_chronicMyelogenousK-5624.6
Leukemia_promyelocytic-HL-604.5
Leukemialymphoblastic(MOLT-4)4.1
Liver7.05
Lung5.5
Lymphnode4.3
Lymphoma_burkitts(Daudi)6.65
Lymphoma_burkitts(Raji)7.35
MedullaOblongata4.65
OccipitalLobe4.5
OlfactoryBulb4.05
Ovary3.9
Pancreas4.2
PancreaticIslet5.45
ParietalLobe5.5
Pituitary5.9
Placenta5.15
Pons4.9
PrefrontalCortex6.25
Prostate6.15
Salivarygland4.15
SkeletalMuscle6.55
Skin6.1
SmoothMuscle5.7
Spinalcord5.4
SubthalamicNucleus4.7
SuperiorCervicalGanglion13.8
TemporalLobe4.7
Testis4.3
TestisGermCell4.15
TestisIntersitial4.3
TestisLeydigCell5.05
TestisSeminiferousTubule4.3
Thalamus5.25
Thymus3.95
Thyroid6.2
Tongue5.25
Tonsil5
Trachea4.25
TrigeminalGanglion5.3
Uterus4.05
UterusCorpus4.9
WholeBlood5.55
Wholebrain4.15
colon5.1
pineal_day6.22
pineal_night6.06
retina6.125
small_intestine4.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P712350
  • 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
Amygdala6.45 ± 0.39
Basal Forebrain6.39 ± 0.4
Basal Part of Pons7.38 ± 0.37
Cerebellar Cortex6.33 ± 0.3
Cerebellar Nuclei6.36 ± 0.63
Claustrum6.44 ± 0.77
Epithalamus6.12 ± 0.74
Frontal Lobe6.8 ± 0.57
Globus Pallidus5.62 ± 0.48
Hypothalamus6.2 ± 0.48
Insula6.82 ± 0.26
Limbic Lobe6.46 ± 0.62
Mesencephalon6.6 ± 0.73
Myelencephalon6.65 ± 0.72
Occipital Lobe7.47 ± 0.49
Parietal Lobe7.02 ± 0.56
Pontine Tegmentum6.51 ± 0.53
Striatum5.63 ± 0.91
Subthalamus7.15 ± 0.08
Temporal Lobe6.78 ± 0.52
Thalamus7.33 ± 0.61
White Matter5.05 ± 0.71
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ChmlCBCerebellum10.7
12.91
ChmlCTXCerebral cortex1.31
1.17
ChmlHIPHippocampal region0.24
0.43
ChmlHPFHippocampal formation0.56
0.74
ChmlHYHypothalamus0.69
0.61
ChmlLSXLateral septal complex0.15
0.1
ChmlMBMidbrain0.54
0.72
ChmlMYMedulla1.45
1.88
ChmlOLFOlfactory bulb4.96
4.5
ChmlPPons0.75
0.86
ChmlPALPallidum0.35
0.39
ChmlRHPRetrohippocampal region1.1
1.19
ChmlsAMYStriatum-like amygdalar nuclei0.34
0.35
ChmlSTRStriatum1.55
1.15
ChmlSTRdStriatum dorsal region1.98
1.5
ChmlSTRvStriatum ventral region1.28
0.83
ChmlTHThalamus4.77
3.5
Peptide Top

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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