AutismKB 2.0

Annotation Detail for C20orf111


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Basic Information Top
Gene Symbol:C20orf111 ( HSPC207,Perit1,dJ1183I21.1 )
Gene Full Name: chromosome 20 open reading frame 111
Band: 20q13.11
Quick LinksEntrez ID:51526; OMIM: NA; Uniprot ID:CT111_HUMAN; ENSEMBL ID: ENSG00000132823; HGNC ID:
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
blastocyst3 / 6231948
fetus35 / 56401262
neonate0 / 310970 
infant2 / 2362084
juvenile1 / 5555617
adult158 / 193912181
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor12 / 94178127
cervical tumor0 / 343660 
chondrosarcoma7 / 8282384
colorectal tumor8 / 11424670
esophageal tumor1 / 1729057
gastrointestinal tumor11 / 11936992
germ cell tumor10 / 26384537
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor5 / 6895972
leukemia14 / 95842146
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma5 / 7175569
non-neoplasia1 / 9725010
normal278 / 336030782
ovarian tumor4 / 7668252
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor8 / 12494964
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites6 / 40015149
bladder0 / 297570 
blood13 / 123478105
bone5 / 7165569
bone marrow11 / 48801225
brain41 / 110098937
cervix2 / 4817141
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye6 / 21105428
heart2 / 8962622
intestine16 / 23447268
kidney14 / 21177766
larynx0 / 241450 
liver16 / 20774377
lung26 / 33697477
lymph1 / 4427022
lymph node7 / 9161076
mammary gland17 / 153271110
mouth0 / 670520 
muscle11 / 107715102
nerve2 / 15768126
ovary7 / 10205168
pancreas8 / 21481237
parathyroid4 / 20539194
pharynx6 / 41328145
pituitary gland0 / 165850 
placenta36 / 280825128
prostate10 / 18934552
salivary gland2 / 2015599
skin17 / 21057480
spleen2 / 5395237
stomach5 / 9661951
testis48 / 330442145
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus14 / 23287860
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221954_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.55
Adipocyte4.85
AdrenalCortex4.95
Adrenalgland4.1
Amygdala5.15
Appendix5.35
AtrioventricularNode3.8
BDCA4+_DentriticCells5.65
Bonemarrow4.75
BronchialEpithelialCells4.9
CD105+_Endothelial8.7
CD14+_Monocytes5.25
CD19+_BCells(neg._sel.)12.1
CD33+_Myeloid6.3
CD34+8.95
CD4+_Tcells5.95
CD56+_NKCells9.05
CD71+_EarlyErythroid4.5
CD8+_Tcells4.85
CardiacMyocytes6.05
Caudatenucleus4.35
Cerebellum3.95
CerebellumPeduncles5.45
CiliaryGanglion3.4
CingulateCortex5.1
Colorectaladenocarcinoma4.7
DorsalRootGanglion3.7
FetalThyroid5
Fetalbrain5.35
Fetalliver4.05
Fetallung4.25
GlobusPallidus3.55
Heart6.1
Hypothalamus5.45
Kidney3.9
Leukemia_chronicMyelogenousK-5624.15
Leukemia_promyelocytic-HL-604.35
Leukemialymphoblastic(MOLT-4)3.9
Liver6.35
Lung5.5
Lymphnode4.3
Lymphoma_burkitts(Daudi)6.2
Lymphoma_burkitts(Raji)6.65
MedullaOblongata4.55
OccipitalLobe4.4
OlfactoryBulb3.9
Ovary3.4
Pancreas3.7
PancreaticIslet5.05
ParietalLobe4.95
Pituitary5.75
Placenta30.6
Pons4.6
PrefrontalCortex14.3
Prostate5.8
Salivarygland4.05
SkeletalMuscle5.5
Skin4.65
SmoothMuscle5.6
Spinalcord5.25
SubthalamicNucleus4.45
SuperiorCervicalGanglion6.45
TemporalLobe4.4
Testis6.5
TestisGermCell4.9
TestisIntersitial4.15
TestisLeydigCell4.7
TestisSeminiferousTubule5.25
Thalamus4.95
Thymus3.95
Thyroid5.8
Tongue4.75
Tonsil4.8
Trachea4.2
TrigeminalGanglion6.05
Uterus9.4
UterusCorpus5.4
WholeBlood83.95
Wholebrain4.25
colon5
pineal_day6.52
pineal_night7.62
retina9.3
small_intestine8.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_535_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
Amygdala5.05 ± 0.41
Basal Forebrain5.01 ± 0.3
Basal Part of Pons4.94 ± 0.33
Cerebellar Cortex5.13 ± 0.39
Cerebellar Nuclei4.74 ± 0.8
Claustrum4.99 ± 0.68
Epithalamus5.2 ± 0.3
Frontal Lobe4.97 ± 0.44
Globus Pallidus5.17 ± 0.35
Hypothalamus5.25 ± 0.39
Insula4.96 ± 0.39
Limbic Lobe4.98 ± 0.38
Mesencephalon5.04 ± 0.58
Myelencephalon4.92 ± 0.45
Occipital Lobe4.94 ± 0.4
Parietal Lobe4.9 ± 0.41
Pontine Tegmentum4.98 ± 0.36
Striatum4.88 ± 0.42
Subthalamus5.01 ± 0.23
Temporal Lobe4.9 ± 0.44
Thalamus4.89 ± 0.34
White Matter5.19 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
3230401D17RikCBCerebellum16.22
16.52
3230401D17RikCTXCerebral cortex1.49
1.25
3230401D17RikHIPHippocampal region3.69
3.52
3230401D17RikHPFHippocampal formation2.57
2.33
3230401D17RikHYHypothalamus0.37
0.31
3230401D17RikLSXLateral septal complex0.18
0.15
3230401D17RikMBMidbrain0.57
0.72
3230401D17RikMYMedulla2.62
3.05
3230401D17RikOLFOlfactory bulb7.46
6.85
3230401D17RikPPons0.84
1.11
3230401D17RikPALPallidum0.32
0.37
3230401D17RikRHPRetrohippocampal region0.64
0.66
3230401D17RiksAMYStriatum-like amygdalar nuclei0.54
0.47
3230401D17RikSTRStriatum0.62
0.66
3230401D17RikSTRdStriatum dorsal region0.53
0.65
3230401D17RikSTRvStriatum ventral region0.96
0.75
3230401D17RikTHThalamus0.61
0.55
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