AutismKB 2.0

Annotation Detail for CLCN4


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Basic Information Top
Gene Symbol:CLCN4 ( CLC4,ClC-4,ClC-4A,MGC163150 )
Gene Full Name: chloride channel 4
Band: Xp22.2
Quick LinksEntrez ID:1183; OMIM: 302910; Uniprot ID:CLCN4_HUMAN; ENSEMBL ID: ENSG00000073464; HGNC ID: 2022
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 body0 / 707610 
blastocyst0 / 623190 
fetus70 / 564012124
neonate0 / 310970 
infant2 / 2362084
juvenile1 / 5555617
adult49 / 193912125
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor19 / 26384572
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor6 / 6895987
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal219 / 336030765
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain172 / 1100989156
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye20 / 21105494
heart1 / 8962611
intestine0 / 2344720 
kidney10 / 21177747
larynx1 / 2414541
liver2 / 2077439
lung2 / 3369745
lymph0 / 442700 
lymph node10 / 91610109
mammary gland4 / 15327126
mouth0 / 670520 
muscle6 / 10771555
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis11 / 33044233
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205149_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.15
Adipocyte4.1
AdrenalCortex4.35
Adrenalgland3.5
Amygdala4.4
Appendix4.25
AtrioventricularNode3.25
BDCA4+_DentriticCells4.6
Bonemarrow4.15
BronchialEpithelialCells4.1
CD105+_Endothelial4.25
CD14+_Monocytes4.4
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid5.3
CD34+5.2
CD4+_Tcells4.55
CD56+_NKCells5
CD71+_EarlyErythroid3.9
CD8+_Tcells4
CardiacMyocytes5.2
Caudatenucleus3.8
Cerebellum3.4
CerebellumPeduncles4.8
CiliaryGanglion2.95
CingulateCortex4.3
Colorectaladenocarcinoma4.15
DorsalRootGanglion3.25
FetalThyroid4.05
Fetalbrain4.2
Fetalliver3.6
Fetallung3.55
GlobusPallidus3.1
Heart5.25
Hypothalamus4.65
Kidney3.4
Leukemia_chronicMyelogenousK-5623.75
Leukemia_promyelocytic-HL-603.65
Leukemialymphoblastic(MOLT-4)3.35
Liver5.55
Lung4.6
Lymphnode3.6
Lymphoma_burkitts(Daudi)5.35
Lymphoma_burkitts(Raji)5.8
MedullaOblongata3.9
OccipitalLobe4.65
OlfactoryBulb3.3
Ovary2.75
Pancreas3.35
PancreaticIslet4.45
ParietalLobe4.5
Pituitary4.9
Placenta4.35
Pons3.95
PrefrontalCortex5.3
Prostate4.85
Salivarygland3.35
SkeletalMuscle4.75
Skin3.2
SmoothMuscle4.7
Spinalcord4.45
SubthalamicNucleus3.85
SuperiorCervicalGanglion4.7
TemporalLobe3.75
Testis3.55
TestisGermCell3.55
TestisIntersitial3.45
TestisLeydigCell4.1
TestisSeminiferousTubule3.55
Thalamus4.25
Thymus3.3
Thyroid5.2
Tongue4
Tonsil4.05
Trachea3.5
TrigeminalGanglion4.25
Uterus3.4
UterusCorpus3.75
WholeBlood4.55
Wholebrain4.1
colon4.15
pineal_day5.4
pineal_night5.18
retina5.1
small_intestine4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13383_PI416261804
  • 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
Amygdala5.03 ± 0.5
Basal Forebrain4.73 ± 0.52
Basal Part of Pons5.21 ± 0.5
Cerebellar Cortex5.31 ± 0.3
Cerebellar Nuclei4.94 ± 0.47
Claustrum4.47 ± 0.84
Epithalamus4.41 ± 0.57
Frontal Lobe5.14 ± 0.5
Globus Pallidus4.53 ± 0.62
Hypothalamus4.55 ± 0.41
Insula5.08 ± 0.3
Limbic Lobe4.98 ± 0.6
Mesencephalon4.89 ± 0.58
Myelencephalon4.98 ± 0.56
Occipital Lobe4.66 ± 0.49
Parietal Lobe4.9 ± 0.48
Pontine Tegmentum4.84 ± 0.56
Striatum4.36 ± 0.53
Subthalamus4.68 ± 0.37
Temporal Lobe5.09 ± 0.42
Thalamus4.89 ± 0.53
White Matter4.89 ± 1.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Clcn4-2CBCerebellum27.48
47.7
Clcn4-2CTXCerebral cortex90.69
89.72
Clcn4-2HIPHippocampal region47.06
94.73
Clcn4-2HPFHippocampal formation63.43
93.44
Clcn4-2HYHypothalamus11.03
10.5
Clcn4-2LSXLateral septal complex27.14
25.81
Clcn4-2MBMidbrain18.48
21.72
Clcn4-2MYMedulla42.58
58.34
Clcn4-2OLFOlfactory bulb73.69
82.5
Clcn4-2PPons28.06
39.21
Clcn4-2PALPallidum21.69
25.09
Clcn4-2RHPRetrohippocampal region91.89
97.12
Clcn4-2sAMYStriatum-like amygdalar nuclei29.11
26.33
Clcn4-2STRStriatum23.95
21.94
Clcn4-2STRdStriatum dorsal region19.57
17.97
Clcn4-2STRvStriatum ventral region34.75
30.01
Clcn4-2THThalamus40.43
45.84
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