AutismKB 2.0

Annotation Detail for CHCHD10


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CHCHD10 ( C22orf16,MGC70831,N27C7-4 )
Gene Full Name: coiled-coil-helix-coiled-coil-helix domain containing 10
Band: 22q11.23
Quick LinksEntrez ID:400916; OMIM: NA; Uniprot ID:CHC10_HUMAN; ENSEMBL ID: ENSG00000241579,ENSG00000242131; HGNC ID: 15559
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 
blastocyst1 / 6231916
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult158 / 193912181
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor5 / 26384518
glioma8 / 10688374
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia11 / 95842114
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma5 / 7175569
non-neoplasia2 / 9725020
normal183 / 336030754
ovarian tumor5 / 7668265
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites6 / 40015149
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain29 / 110098926
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye23 / 211054108
heart2 / 8962622
intestine31 / 234472132
kidney35 / 211777165
larynx0 / 241450 
liver6 / 20774328
lung17 / 33697450
lymph1 / 4427022
lymph node11 / 91610120
mammary gland2 / 15327113
mouth0 / 670520 
muscle30 / 107715278
nerve0 / 157680 
ovary6 / 10205158
pancreas37 / 214812172
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta14 / 28082549
prostate13 / 18934568
salivary gland0 / 201550 
skin2 / 2105749
spleen4 / 5395274
stomach2 / 9661920
testis1 / 3304423
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6080_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
Amygdala9.08 ± 0.24
Basal Forebrain9.23 ± 0.17
Basal Part of Pons9.44 ± 0.36
Cerebellar Cortex8.96 ± 0.19
Cerebellar Nuclei9.49 ± 0.19
Claustrum8.62 ± 0.45
Epithalamus9.24 ± 0.2
Frontal Lobe9.41 ± 0.37
Globus Pallidus9.33 ± 0.39
Hypothalamus9.59 ± 0.26
Insula9.34 ± 0.29
Limbic Lobe9.04 ± 0.49
Mesencephalon9.22 ± 0.38
Myelencephalon9.2 ± 0.42
Occipital Lobe8.9 ± 0.4
Parietal Lobe9.37 ± 0.39
Pontine Tegmentum9.33 ± 0.39
Striatum9.43 ± 0.39
Subthalamus9.7 ± 0.17
Temporal Lobe9.33 ± 0.35
Thalamus9.37 ± 0.31
White Matter7.64 ± 0.1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ndg2CBCerebellum34.24
50.79
Ndg2CTXCerebral cortex72.51
42.67
Ndg2HIPHippocampal region31.11
32.03
Ndg2HPFHippocampal formation48.58
40.3
Ndg2HYHypothalamus65.91
37.08
Ndg2LSXLateral septal complex27.46
9.48
Ndg2MBMidbrain60.25
45.3
Ndg2MYMedulla80.12
79.76
Ndg2OLFOlfactory bulb66.3
43.18
Ndg2PPons69.4
65.14
Ndg2PALPallidum70.44
59.12
Ndg2RHPRetrohippocampal region76.61
52.11
Ndg2sAMYStriatum-like amygdalar nuclei49.41
26.01
Ndg2STRStriatum93.4
49
Ndg2STRdStriatum dorsal region100
54.46
Ndg2STRvStriatum ventral region96.05
56.39
Ndg2THThalamus67.58
48.49
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00076071 26 108 133 QFLDCSTTQSDLSLCEGFSEALKQCK 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