AutismKB 2.0

Annotation Detail for C3orf52


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Basic Information Top
Gene Symbol:C3orf52 ( FLJ23186,TTMP )
Gene Full Name: chromosome 3 open reading frame 52
Band: 3q13.2
Quick LinksEntrez ID:79669; OMIM: 611956; Uniprot ID:TTMP_HUMAN; ENSEMBL ID: ENSG00000114529; HGNC ID: 26255
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 
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult12 / 19391216
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma4 / 7175555
non-neoplasia0 / 972500 
normal35 / 336030710
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine6 / 23447225
kidney4 / 21177718
larynx0 / 241450 
liver1 / 2077434
lung14 / 33697441
lymph0 / 442700 
lymph node6 / 9161065
mammary gland0 / 1532710 
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis5 / 33044215
thymus6 / 8113173
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219474_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.5
Adipocyte7
AdrenalCortex9.2
Adrenalgland6.45
Amygdala7.15
Appendix8.6
AtrioventricularNode7.45
BDCA4+_DentriticCells7.2
Bonemarrow7.9
BronchialEpithelialCells7.25
CD105+_Endothelial7.25
CD14+_Monocytes7.7
CD19+_BCells(neg._sel.)7.5
CD33+_Myeloid8.95
CD34+8.8
CD4+_Tcells7.4
CD56+_NKCells7.9
CD71+_EarlyErythroid6.9
CD8+_Tcells6.45
CardiacMyocytes13.05
Caudatenucleus6.45
Cerebellum5.9
CerebellumPeduncles8.55
CiliaryGanglion6.5
CingulateCortex7.55
Colorectaladenocarcinoma7.35
DorsalRootGanglion6.45
FetalThyroid7.2
Fetalbrain6.85
Fetalliver6.4
Fetallung5.65
GlobusPallidus5.8
Heart11.7
Hypothalamus7.35
Kidney6.65
Leukemia_chronicMyelogenousK-5626.6
Leukemia_promyelocytic-HL-606.4
Leukemialymphoblastic(MOLT-4)5.45
Liver11.05
Lung8.05
Lymphnode5.85
Lymphoma_burkitts(Daudi)9.55
Lymphoma_burkitts(Raji)13.35
MedullaOblongata6.5
OccipitalLobe6.45
OlfactoryBulb5.7
Ovary5.3
Pancreas6.9
PancreaticIslet7.9
ParietalLobe8.1
Pituitary8.45
Placenta7.45
Pons7.05
PrefrontalCortex8.4
Prostate8.4
Salivarygland6.05
SkeletalMuscle11.25
Skin6.9
SmoothMuscle8.2
Spinalcord7.75
SubthalamicNucleus6.9
SuperiorCervicalGanglion11.15
TemporalLobe6.8
Testis6.15
TestisGermCell5.8
TestisIntersitial6.25
TestisLeydigCell7.6
TestisSeminiferousTubule6.15
Thalamus7.4
Thymus6.85
Thyroid9.3
Tongue8.3
Tonsil7.15
Trachea6.05
TrigeminalGanglion9.25
Uterus5.7
UterusCorpus7.35
WholeBlood7.75
Wholebrain5.75
colon7.4
pineal_day8.66
pineal_night8.6
retina8.65
small_intestine7.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P294343
  • 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
Amygdala2.3 ± 1
Basal Forebrain1.81 ± 0.25
Basal Part of Pons1.55 ± 0.31
Cerebellar Cortex1.58 ± 0.66
Cerebellar Nuclei2.12 ± 0.74
Claustrum2.59 ± 0.88
Epithalamus1.69 ± 0.67
Frontal Lobe1.75 ± 0.72
Globus Pallidus2.34 ± 0.63
Hypothalamus1.83 ± 0.67
Insula1.58 ± 0.55
Limbic Lobe1.98 ± 0.6
Mesencephalon2.08 ± 0.95
Myelencephalon1.9 ± 0.69
Occipital Lobe1.72 ± 0.56
Parietal Lobe1.77 ± 0.58
Pontine Tegmentum1.85 ± 0.48
Striatum2.46 ± 0.65
Subthalamus2.04 ± 0.78
Temporal Lobe1.82 ± 0.7
Thalamus1.78 ± 0.65
White Matter2.1 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC016579CBCerebellum0.01
0.07
BC016579CTXCerebral cortex0.18
0.29
BC016579HIPHippocampal region0.09
0.13
BC016579HPFHippocampal formation0.08
0.1
BC016579HYHypothalamus0.07
0.06
BC016579LSXLateral septal complex0.05
0
BC016579MBMidbrain0.05
0.16
BC016579MYMedulla0.08
0.26
BC016579OLFOlfactory bulb0.06
0.11
BC016579PPons0.23
0.66
BC016579PALPallidum0.08
0.12
BC016579RHPRetrohippocampal region0.06
0.05
BC016579sAMYStriatum-like amygdalar nuclei0
0
BC016579STRStriatum0.09
0.11
BC016579STRdStriatum dorsal region0.06
0.06
BC016579STRvStriatum ventral region0.28
0.35
BC016579THThalamus0.17
0.18
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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