AutismKB 2.0

Annotation Detail for C21orf2


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Basic Information Top
Gene Symbol:C21orf2 ( A2,YF5 )
Gene Full Name: chromosome 21 open reading frame 2
Band: 21q22.3
Quick LinksEntrez ID:755; OMIM: 603191; Uniprot ID:CU002_HUMAN; ENSEMBL ID: ENSG00000160226; HGNC ID: 1260
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
fetus29 / 56401251
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult106 / 193912154
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) tumor28 / 94178297
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor4 / 26384515
glioma22 / 106883205
head and neck tumor0 / 1363020 
kidney tumor7 / 68959101
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal107 / 336030731
ovarian tumor21 / 76682273
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
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
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone3 / 7165541
bone marrow7 / 48801143
brain42 / 110098938
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye9 / 21105442
heart3 / 8962633
intestine9 / 23447238
kidney12 / 21177756
larynx0 / 241450 
liver0 / 2077430 
lung22 / 33697465
lymph0 / 442700 
lymph node9 / 9161098
mammary gland29 / 153271189
mouth0 / 670520 
muscle2 / 10771518
nerve2 / 15768126
ovary22 / 102051215
pancreas12 / 21481255
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate10 / 18934552
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203995_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.3
Adipocyte19.9
AdrenalCortex34.45
Adrenalgland18.45
Amygdala17.25
Appendix23.5
AtrioventricularNode27.95
BDCA4+_DentriticCells17.55
Bonemarrow21.3
BronchialEpithelialCells14.3
CD105+_Endothelial17.45
CD14+_Monocytes17.3
CD19+_BCells(neg._sel.)23.05
CD33+_Myeloid23.45
CD34+21.5
CD4+_Tcells22.05
CD56+_NKCells19.7
CD71+_EarlyErythroid18.35
CD8+_Tcells19.45
CardiacMyocytes22.75
Caudatenucleus18.75
Cerebellum18
CerebellumPeduncles37
CiliaryGanglion33.15
CingulateCortex32.25
Colorectaladenocarcinoma14.5
DorsalRootGanglion22.95
FetalThyroid22
Fetalbrain19.65
Fetalliver17.65
Fetallung12.25
GlobusPallidus28.5
Heart22.7
Hypothalamus20.8
Kidney18.05
Leukemia_chronicMyelogenousK-56219.7
Leukemia_promyelocytic-HL-6017.25
Leukemialymphoblastic(MOLT-4)16.3
Liver30.9
Lung18.9
Lymphnode17.05
Lymphoma_burkitts(Daudi)26.3
Lymphoma_burkitts(Raji)22.3
MedullaOblongata22.7
OccipitalLobe21.85
OlfactoryBulb17.6
Ovary14.8
Pancreas16.95
PancreaticIslet20.45
ParietalLobe32.45
Pituitary26.55
Placenta21.05
Pons36.2
PrefrontalCortex20.65
Prostate24.4
Salivarygland21.45
SkeletalMuscle43.7
Skin27.6
SmoothMuscle17.6
Spinalcord23.6
SubthalamicNucleus49.15
SuperiorCervicalGanglion35.85
TemporalLobe19.2
Testis18.25
TestisGermCell17.65
TestisIntersitial18.65
TestisLeydigCell22.35
TestisSeminiferousTubule18.05
Thalamus32.95
Thymus14.35
Thyroid22.3
Tongue22.7
Tonsil20.7
Trachea16.95
TrigeminalGanglion33.95
Uterus15.75
UterusCorpus19.75
WholeBlood15.35
Wholebrain16.4
colon17.05
pineal_day28.28
pineal_night24.9
retina24.675
small_intestine16.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6217_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
Amygdala4.51 ± 0.61
Basal Forebrain4.29 ± 0.34
Basal Part of Pons4.72 ± 0.45
Cerebellar Cortex4.15 ± 0.55
Cerebellar Nuclei4.26 ± 0.49
Claustrum3.94 ± 0.57
Epithalamus4.41 ± 0.53
Frontal Lobe4.49 ± 0.57
Globus Pallidus3.87 ± 0.57
Hypothalamus4.24 ± 0.39
Insula4.64 ± 0.28
Limbic Lobe4.33 ± 0.53
Mesencephalon4.23 ± 0.54
Myelencephalon4.3 ± 0.55
Occipital Lobe3.75 ± 0.53
Parietal Lobe4.26 ± 0.49
Pontine Tegmentum4.15 ± 0.56
Striatum4.03 ± 0.54
Subthalamus4.51 ± 0.43
Temporal Lobe4.51 ± 0.47
Thalamus4.08 ± 0.52
White Matter3.71 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
1810043G02RikCBCerebellum14.43
17.01
1810043G02RikCTXCerebral cortex31.27
23.32
1810043G02RikHIPHippocampal region25.92
27.06
1810043G02RikHPFHippocampal formation26.23
24.18
1810043G02RikHYHypothalamus16.49
13.09
1810043G02RikLSXLateral septal complex8.06
5.5
1810043G02RikMBMidbrain14.81
14.22
1810043G02RikMYMedulla12.69
15.22
1810043G02RikOLFOlfactory bulb25.59
21.18
1810043G02RikPPons15.24
17.45
1810043G02RikPALPallidum13.59
11.62
1810043G02RikRHPRetrohippocampal region27.33
20.56
1810043G02RiksAMYStriatum-like amygdalar nuclei26.22
18.34
1810043G02RikSTRStriatum9.07
6.41
1810043G02RikSTRdStriatum dorsal region5.28
3.75
1810043G02RikSTRvStriatum ventral region12.88
8.96
1810043G02RikTHThalamus10.81
8.59
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


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