AutismKB 2.0

Annotation Detail for CHCHD3


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Basic Information Top
Gene Symbol:CHCHD3 ( FLJ20420 )
Gene Full Name: coiled-coil-helix-coiled-coil-helix domain containing 3
Band: 7q32.3-q33
Quick LinksEntrez ID:54927; OMIM: NA; Uniprot ID:CHCH3_HUMAN; ENSEMBL ID: ENSG00000106554; HGNC ID: 21906
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 body5 / 7076170
blastocyst8 / 62319128
fetus29 / 56401251
neonate0 / 310970 
infant7 / 23620296
juvenile6 / 55556107
adult156 / 193912180
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma1 / 1747557
breast (mammary gland) tumor8 / 9417884
cervical tumor6 / 34366174
chondrosarcoma9 / 82823108
colorectal tumor12 / 114246105
esophageal tumor1 / 1729057
gastrointestinal tumor16 / 119369134
germ cell tumor16 / 26384560
glioma10 / 10688393
head and neck tumor6 / 13630244
kidney tumor7 / 68959101
leukemia6 / 9584262
liver tumor9 / 9635993
lung tumor6 / 10312758
lymphoma6 / 7175583
non-neoplasia1 / 9725010
normal180 / 336030753
ovarian tumor6 / 7668278
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS25 / 125680198
prostate cancer0 / 1026800 
retinoblastoma12 / 46356258
skin tumor23 / 124949184
soft tissue/muscle tissue tumor34 / 125191271
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites7 / 40015174
bladder1 / 2975733
blood6 / 12347848
bone7 / 7165597
bone marrow4 / 4880181
brain51 / 110098946
cervix8 / 48171166
connective tissue28 / 149255187
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus1 / 2020949
eye18 / 21105485
heart17 / 89626189
intestine24 / 234472102
kidney15 / 21177770
larynx2 / 2414582
liver12 / 20774357
lung18 / 33697453
lymph2 / 4427045
lymph node2 / 9161021
mammary gland13 / 15327184
mouth1 / 6705214
muscle22 / 107715204
nerve0 / 157680 
ovary9 / 10205188
pancreas4 / 21481218
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta24 / 28082585
prostate0 / 1893450 
salivary gland1 / 2015549
skin35 / 210574166
spleen0 / 539520 
stomach8 / 9661982
testis13 / 33044239
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus18 / 23287877
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217972_at
Cell line Expression level Expression bar
721_B_lymphoblasts279.8
Adipocyte75.7
AdrenalCortex37.45
Adrenalgland49.45
Amygdala63.15
Appendix53.95
AtrioventricularNode23.4
BDCA4+_DentriticCells155.8
Bonemarrow53.5
BronchialEpithelialCells167.45
CD105+_Endothelial496
CD14+_Monocytes95.1
CD19+_BCells(neg._sel.)108.65
CD33+_Myeloid150.15
CD34+217.05
CD4+_Tcells49.6
CD56+_NKCells155.7
CD71+_EarlyErythroid270.1
CD8+_Tcells52
CardiacMyocytes74.2
Caudatenucleus43.4
Cerebellum42.45
CerebellumPeduncles46
CiliaryGanglion37.65
CingulateCortex51.25
Colorectaladenocarcinoma226.65
DorsalRootGanglion40.8
FetalThyroid60.15
Fetalbrain54.55
Fetalliver52
Fetallung52.4
GlobusPallidus38.6
Heart114.8
Hypothalamus55.9
Kidney49.35
Leukemia_chronicMyelogenousK-562247.65
Leukemia_promyelocytic-HL-60182.35
Leukemialymphoblastic(MOLT-4)330.5
Liver31.95
Lung67.35
Lymphnode46.85
Lymphoma_burkitts(Daudi)78.85
Lymphoma_burkitts(Raji)191
MedullaOblongata47.5
OccipitalLobe41.75
OlfactoryBulb42.55
Ovary22.1
Pancreas43.45
PancreaticIslet44.6
ParietalLobe54.8
Pituitary65
Placenta53.4
Pons49.85
PrefrontalCortex55.95
Prostate59.2
Salivarygland48.6
SkeletalMuscle88.95
Skin43.6
SmoothMuscle89.5
Spinalcord78.2
SubthalamicNucleus46.75
SuperiorCervicalGanglion62.75
TemporalLobe46.1
Testis44.9
TestisGermCell34.75
TestisIntersitial32.55
TestisLeydigCell51.45
TestisSeminiferousTubule37.05
Thalamus46.35
Thymus52.75
Thyroid158
Tongue66.2
Tonsil53
Trachea27.6
TrigeminalGanglion38.9
Uterus42.85
UterusCorpus46
WholeBlood42.7
Wholebrain49.25
colon262.4
pineal_day85.78
pineal_night75.1
retina104.275
small_intestine225.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P251927
  • 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
Amygdala5.52 ± 0.39
Basal Forebrain5.41 ± 0.31
Basal Part of Pons5.64 ± 0.41
Cerebellar Cortex5.53 ± 0.37
Cerebellar Nuclei5.65 ± 0.41
Claustrum5.07 ± 0.74
Epithalamus5.61 ± 0.32
Frontal Lobe5.68 ± 0.38
Globus Pallidus5.39 ± 0.42
Hypothalamus5.74 ± 0.25
Insula5.66 ± 0.29
Limbic Lobe5.42 ± 0.53
Mesencephalon5.57 ± 0.46
Myelencephalon5.46 ± 0.46
Occipital Lobe5.21 ± 0.46
Parietal Lobe5.52 ± 0.42
Pontine Tegmentum5.48 ± 0.46
Striatum5.43 ± 0.36
Subthalamus5.7 ± 0.49
Temporal Lobe5.64 ± 0.39
Thalamus5.42 ± 0.33
White Matter4.63 ± 0.69
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Chchd3CBCerebellum36.1
86.63
Chchd3CTXCerebral cortex100
100
Chchd3HIPHippocampal region88.8
100
Chchd3HPFHippocampal formation89.19
100
Chchd3HYHypothalamus76.59
74.26
Chchd3LSXLateral septal complex99.92
87.06
Chchd3MBMidbrain71.11
81.58
Chchd3MYMedulla61.91
81.29
Chchd3OLFOlfactory bulb89.38
86.37
Chchd3PPons62.62
84.76
Chchd3PALPallidum85.47
89.38
Chchd3RHPRetrohippocampal region90.59
89.63
Chchd3sAMYStriatum-like amygdalar nuclei72.34
67.01
Chchd3STRStriatum100
90.21
Chchd3STRdStriatum dorsal region100
91.36
Chchd3STRvStriatum ventral region100
97.16
Chchd3THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CHCH3_HUMAN_0 0 0 0 YSGAYGASVSDEELK PRIDE
CHCH3_HUMAN_49 15 49 63 YSGAYGASVSDEELK PRIDE
PAp00001342 16 204 219 CSALATQYMHCVNHAK 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