AutismKB 2.0

Annotation Detail for COMMD2


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Basic Information Top
Gene Symbol:COMMD2 ( MGC57611 )
Gene Full Name: COMM domain containing 2
Band: 3q25.1
Quick LinksEntrez ID:51122; OMIM: NA; Uniprot ID:COMD2_HUMAN; ENSEMBL ID: ENSG00000114744; HGNC ID: 24993
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 body3 / 7076142
blastocyst4 / 6231964
fetus23 / 56401240
neonate4 / 31097128
infant0 / 236200 
juvenile0 / 555560 
adult52 / 193912126
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 tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor16 / 26384560
glioma4 / 10688337
head and neck tumor8 / 13630258
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal122 / 336030736
ovarian tumor4 / 7668252
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood4 / 12347832
bone2 / 7165527
bone marrow2 / 4880140
brain36 / 110098932
cervix2 / 4817141
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye7 / 21105433
heart3 / 8962633
intestine2 / 2344728
kidney6 / 21177728
larynx0 / 241450 
liver5 / 20774324
lung10 / 33697429
lymph2 / 4427045
lymph node5 / 9161054
mammary gland2 / 15327113
mouth0 / 670520 
muscle5 / 10771546
nerve0 / 157680 
ovary4 / 10205139
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx10 / 41328241
pituitary gland0 / 165850 
placenta5 / 28082517
prostate1 / 1893455
salivary gland3 / 20155148
skin7 / 21057433
spleen2 / 5395237
stomach2 / 9661920
testis14 / 33044242
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord2 / 13680146
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_302_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
Amygdala7.88 ± 0.35
Basal Forebrain7.89 ± 0.34
Basal Part of Pons7.83 ± 0.31
Cerebellar Cortex8.19 ± 0.13
Cerebellar Nuclei8.08 ± 0.31
Claustrum8.57 ± 0.34
Epithalamus8.15 ± 0.3
Frontal Lobe7.86 ± 0.34
Globus Pallidus8.16 ± 0.26
Hypothalamus7.63 ± 0.31
Insula7.89 ± 0.24
Limbic Lobe7.88 ± 0.46
Mesencephalon7.96 ± 0.38
Myelencephalon7.93 ± 0.4
Occipital Lobe7.86 ± 0.3
Parietal Lobe7.85 ± 0.37
Pontine Tegmentum7.9 ± 0.39
Striatum7.42 ± 0.31
Subthalamus8.08 ± 0.29
Temporal Lobe7.9 ± 0.32
Thalamus7.81 ± 0.3
White Matter8.95 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Commd2CBCerebellum2.07
3.46
Commd2CTXCerebral cortex0.61
0.86
Commd2HIPHippocampal region0.68
0.6
Commd2HPFHippocampal formation0.49
0.44
Commd2HYHypothalamus0.09
0.16
Commd2LSXLateral septal complex0.08
0.05
Commd2MBMidbrain0.19
0.39
Commd2MYMedulla0.14
0.22
Commd2OLFOlfactory bulb0.75
0.65
Commd2PPons0.25
0.39
Commd2PALPallidum0.27
0.28
Commd2RHPRetrohippocampal region0.19
0.22
Commd2sAMYStriatum-like amygdalar nuclei0.1
0.12
Commd2STRStriatum0.2
0.19
Commd2STRdStriatum dorsal region0.19
0.2
Commd2STRvStriatum ventral region0.2
0.18
Commd2THThalamus0.22
0.34
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00132003 24 164 187 VLQTDPATLLHLVQQLEQALEEMK 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