AutismKB 2.0

Annotation Detail for C18orf8


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C18orf8 ( FLJ23453,HsT2591,MIC1 )
Gene Full Name: chromosome 18 open reading frame 8
Band: 18q11.2
Quick LinksEntrez ID:29919; OMIM: NA; Uniprot ID:MIC1_HUMAN; ENSEMBL ID: ENSG00000141452; HGNC ID: 24326
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
blastocyst0 / 623190 
fetus45 / 56401279
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult99 / 193912151
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) tumor4 / 9417842
cervical tumor3 / 3436687
chondrosarcoma4 / 8282348
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor4 / 26384515
glioma2 / 10688318
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia14 / 95842146
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma5 / 7175569
non-neoplasia7 / 9725071
normal192 / 336030757
ovarian tumor2 / 7668226
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer8 / 10268077
retinoblastoma2 / 4635643
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
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
ascites1 / 4001524
bladder0 / 297570 
blood13 / 123478105
bone4 / 7165555
bone marrow1 / 4880120
brain51 / 110098946
cervix4 / 4817183
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye18 / 21105485
heart1 / 8962611
intestine13 / 23447255
kidney11 / 21177751
larynx0 / 241450 
liver4 / 20774319
lung19 / 33697456
lymph0 / 442700 
lymph node3 / 9161032
mammary gland5 / 15327132
mouth3 / 6705244
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas12 / 21481255
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate12 / 18934563
salivary gland2 / 2015599
skin4 / 21057418
spleen2 / 5395237
stomach7 / 9661972
testis9 / 33044227
thymus4 / 8113149
thyroid4 / 4747384
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus13 / 23287855
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221190_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts178.2
Adipocyte4.65
AdrenalCortex5
Adrenalgland4
Amygdala7.25
Appendix4.75
AtrioventricularNode3.4
BDCA4+_DentriticCells231.7
Bonemarrow7.25
BronchialEpithelialCells5.9
CD105+_Endothelial13.35
CD14+_Monocytes32.4
CD19+_BCells(neg._sel.)136.15
CD33+_Myeloid39.85
CD34+20.2
CD4+_Tcells82.9
CD56+_NKCells67.15
CD71+_EarlyErythroid31.05
CD8+_Tcells65.05
CardiacMyocytes5.75
Caudatenucleus4.2
Cerebellum3.9
CerebellumPeduncles5.35
CiliaryGanglion3.25
CingulateCortex4.85
Colorectaladenocarcinoma10.3
DorsalRootGanglion3.55
FetalThyroid4.25
Fetalbrain4.6
Fetalliver4.25
Fetallung5.6
GlobusPallidus3.4
Heart5.85
Hypothalamus5.4
Kidney4.35
Leukemia_chronicMyelogenousK-56220.2
Leukemia_promyelocytic-HL-6011.85
Leukemialymphoblastic(MOLT-4)4
Liver6.3
Lung6.85
Lymphnode19.55
Lymphoma_burkitts(Daudi)18.15
Lymphoma_burkitts(Raji)17.85
MedullaOblongata4.1
OccipitalLobe4.15
OlfactoryBulb3.6
Ovary3.05
Pancreas3.6
PancreaticIslet5.2
ParietalLobe4.95
Pituitary11.2
Placenta7.35
Pons4.35
PrefrontalCortex6.2
Prostate9.9
Salivarygland3.65
SkeletalMuscle5.35
Skin3.4
SmoothMuscle5.75
Spinalcord5.2
SubthalamicNucleus4.25
SuperiorCervicalGanglion5.4
TemporalLobe4.1
Testis26.15
TestisGermCell8.05
TestisIntersitial4.95
TestisLeydigCell5.05
TestisSeminiferousTubule4.35
Thalamus4.75
Thymus13.15
Thyroid6.65
Tongue4.65
Tonsil8.3
Trachea3.8
TrigeminalGanglion4.6
Uterus3.75
UterusCorpus4.25
WholeBlood20.75
Wholebrain7.75
colon6.1
pineal_day43.4
pineal_night39.22
retina8.5
small_intestine7.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_315_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
Amygdala6.53 ± 0.24
Basal Forebrain6.37 ± 0.29
Basal Part of Pons6.91 ± 0.12
Cerebellar Cortex6.84 ± 0.13
Cerebellar Nuclei6.93 ± 0.2
Claustrum6.7 ± 0.61
Epithalamus6.49 ± 0.45
Frontal Lobe6.51 ± 0.28
Globus Pallidus5.98 ± 0.28
Hypothalamus6.69 ± 0.19
Insula6.49 ± 0.27
Limbic Lobe6.64 ± 0.29
Mesencephalon6.42 ± 0.41
Myelencephalon6.52 ± 0.33
Occipital Lobe6.94 ± 0.33
Parietal Lobe6.58 ± 0.24
Pontine Tegmentum6.53 ± 0.33
Striatum5.9 ± 0.25
Subthalamus6.55 ± 0.28
Temporal Lobe6.63 ± 0.27
Thalamus6.51 ± 0.3
White Matter6.78 ± 0.37
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MIC1_HUMAN_644 14 644 657 QIFGDQALMRPTTF PRIDE
PAp00077552 24 311 334 SIQPYQIPITGPAAVTSQSPVPCK 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