AutismKB 2.0

Annotation Detail for CHM


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Basic Information Top
Gene Symbol:CHM ( DXS540,FLJ38564,GGTA,HSD-32,MGC102710,REP-1,TCD )
Gene Full Name: choroideremia (Rab escort protein 1)
Band: Xq21.2
Quick LinksEntrez ID:1121; OMIM: 300390; Uniprot ID:RAE1_HUMAN; ENSEMBL ID: ENSG00000188419; HGNC ID: 1940
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
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult54 / 193912127
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor12 / 94178127
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor15 / 26384556
glioma2 / 10688318
head and neck tumor8 / 13630258
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal109 / 336030732
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood2 / 12347816
bone3 / 7165541
bone marrow1 / 4880120
brain49 / 110098944
cervix1 / 4817120
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine2 / 2344728
kidney10 / 21177747
larynx0 / 241450 
liver2 / 2077439
lung3 / 3369748
lymph0 / 442700 
lymph node4 / 9161043
mammary gland13 / 15327184
mouth7 / 67052104
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta5 / 28082517
prostate2 / 18934510
salivary gland0 / 201550 
skin4 / 21057418
spleen4 / 5395274
stomach1 / 9661910
testis11 / 33044233
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea12 / 52413228
umbilical cord0 / 136800 
uterus5 / 23287821
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207099_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.15
Adipocyte5.5
AdrenalCortex5.9
Adrenalgland4.8
Amygdala5.75
Appendix5.95
AtrioventricularNode4.3
BDCA4+_DentriticCells5.55
Bonemarrow5.85
BronchialEpithelialCells5.45
CD105+_Endothelial5.45
CD14+_Monocytes5.9
CD19+_BCells(neg._sel.)5.7
CD33+_Myeloid6.85
CD34+6.7
CD4+_Tcells5.65
CD56+_NKCells6.3
CD71+_EarlyErythroid5.25
CD8+_Tcells5.25
CardiacMyocytes7.3
Caudatenucleus5
Cerebellum4.5
CerebellumPeduncles6.45
CiliaryGanglion4.1
CingulateCortex5.65
Colorectaladenocarcinoma5.55
DorsalRootGanglion4.35
FetalThyroid5.4
Fetalbrain5.45
Fetalliver4.9
Fetallung4.5
GlobusPallidus4.2
Heart7.7
Hypothalamus5.9
Kidney4.7
Leukemia_chronicMyelogenousK-5625
Leukemia_promyelocytic-HL-604.9
Leukemialymphoblastic(MOLT-4)4.45
Liver8.15
Lung6
Lymphnode4.75
Lymphoma_burkitts(Daudi)7.1
Lymphoma_burkitts(Raji)8.15
MedullaOblongata5.05
OccipitalLobe4.9
OlfactoryBulb4.4
Ovary3.7
Pancreas4.5
PancreaticIslet5.95
ParietalLobe6.1
Pituitary6.5
Placenta5.7
Pons5.25
PrefrontalCortex6.75
Prostate6.45
Salivarygland4.45
SkeletalMuscle6.95
Skin4.45
SmoothMuscle6.3
Spinalcord5.95
SubthalamicNucleus5.1
SuperiorCervicalGanglion6.45
TemporalLobe5.15
Testis4.7
TestisGermCell4.5
TestisIntersitial4.65
TestisLeydigCell5.5
TestisSeminiferousTubule4.65
Thalamus5.65
Thymus4.3
Thyroid6.8
Tongue5.6
Tonsil5.45
Trachea4.65
TrigeminalGanglion6.2
Uterus4.5
UterusCorpus5.15
WholeBlood6.1
Wholebrain4.6
colon5.55
pineal_day6.8
pineal_night6.66
retina6.7
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P22548
  • 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
Amygdala7.2 ± 0.57
Basal Forebrain7.54 ± 0.14
Basal Part of Pons7.89 ± 0.26
Cerebellar Cortex7.38 ± 0.22
Cerebellar Nuclei7.25 ± 0.53
Claustrum7.52 ± 0.32
Epithalamus7.24 ± 0.37
Frontal Lobe7.53 ± 0.34
Globus Pallidus6.78 ± 0.26
Hypothalamus7.44 ± 0.23
Insula7.65 ± 0.35
Limbic Lobe7.65 ± 0.26
Mesencephalon7.43 ± 0.36
Myelencephalon7.48 ± 0.38
Occipital Lobe7.68 ± 0.32
Parietal Lobe7.62 ± 0.3
Pontine Tegmentum7.43 ± 0.3
Striatum7.27 ± 0.47
Subthalamus7.53 ± 0.25
Temporal Lobe7.62 ± 0.28
Thalamus7.54 ± 0.29
White Matter6.72 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ChmCBCerebellum14.21
15.3
ChmCTXCerebral cortex9.74
7.1
ChmHIPHippocampal region15.21
17.2
ChmHPFHippocampal formation11.93
11.86
ChmHYHypothalamus1.4
1.28
ChmLSXLateral septal complex3.25
2.17
ChmMBMidbrain5.32
5.72
ChmMYMedulla10.3
10.9
ChmOLFOlfactory bulb17.19
12.67
ChmPPons6.2
7.84
ChmPALPallidum1.84
1.89
ChmRHPRetrohippocampal region7.21
5.35
ChmsAMYStriatum-like amygdalar nuclei1.22
0.98
ChmSTRStriatum2.11
1.56
ChmSTRdStriatum dorsal region1.88
1.45
ChmSTRvStriatum ventral region2.87
1.95
ChmTHThalamus5.88
5.23
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00538082 26 186 211 TCVPSTSAEDMSENVPIAEDTTEQPK 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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