AutismKB 2.0

Annotation Detail for C2orf54


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Basic Information Top
Gene Symbol:C2orf54 ( FLJ22671,MGC150431,MGC150432 )
Gene Full Name: chromosome 2 open reading frame 54
Band: 2q37.3
Quick LinksEntrez ID:79919; OMIM: NA; Uniprot ID:CB054_HUMAN; ENSEMBL ID: ENSG00000172478; HGNC ID: 26216
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 body0 / 707610 
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult5 / 19391212
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor7 / 17290404
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal20 / 33603075
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus12 / 20209593
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth7 / 67052104
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach1 / 9661910
testis0 / 3304420 
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220149_at
Cell line Expression level Expression bar
721_B_lymphoblasts30.9
Adipocyte29.2
AdrenalCortex48.5
Adrenalgland24.1
Amygdala30.1
Appendix29.4
AtrioventricularNode34.95
BDCA4+_DentriticCells26.8
Bonemarrow28.9
BronchialEpithelialCells26.85
CD105+_Endothelial28.4
CD14+_Monocytes25.9
CD19+_BCells(neg._sel.)30
CD33+_Myeloid32.15
CD34+30.6
CD4+_Tcells27.1
CD56+_NKCells24.15
CD71+_EarlyErythroid26.4
CD8+_Tcells24.9
CardiacMyocytes44.1
Caudatenucleus24.5
Cerebellum26.6
CerebellumPeduncles31.95
CiliaryGanglion21.75
CingulateCortex27.3
Colorectaladenocarcinoma37.65
DorsalRootGanglion22.85
FetalThyroid27.6
Fetalbrain28.25
Fetalliver26.55
Fetallung21.7
GlobusPallidus22.1
Heart41.4
Hypothalamus28.6
Kidney40.1
Leukemia_chronicMyelogenousK-56225.85
Leukemia_promyelocytic-HL-6025.15
Leukemialymphoblastic(MOLT-4)23.15
Liver38.65
Lung43.2
Lymphnode26
Lymphoma_burkitts(Daudi)36
Lymphoma_burkitts(Raji)45.35
MedullaOblongata25.9
OccipitalLobe25.25
OlfactoryBulb22.35
Ovary21.15
Pancreas23.2
PancreaticIslet30.3
ParietalLobe35.7
Pituitary32.25
Placenta26.45
Pons27.25
PrefrontalCortex35.35
Prostate35.35
Salivarygland22.45
SkeletalMuscle69.65
Skin29.8
SmoothMuscle32.3
Spinalcord30.35
SubthalamicNucleus25.4
SuperiorCervicalGanglion37.2
TemporalLobe26.3
Testis24.65
TestisGermCell26.85
TestisIntersitial23.8
TestisLeydigCell27.9
TestisSeminiferousTubule24.05
Thalamus28.25
Thymus22.1
Thyroid36.3
Tongue48.75
Tonsil33.7
Trachea23.8
TrigeminalGanglion73.35
Uterus23.05
UterusCorpus28.35
WholeBlood30.7
Wholebrain20.55
colon27.8
pineal_day35.22
pineal_night32.26
retina32.8
small_intestine26
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5137_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
Amygdala3.99 ± 0.6
Basal Forebrain3.73 ± 0.47
Basal Part of Pons4.05 ± 0.63
Cerebellar Cortex4.34 ± 0.34
Cerebellar Nuclei3.72 ± 0.27
Claustrum4.07 ± 0.69
Epithalamus3.43 ± 0.91
Frontal Lobe3.82 ± 0.5
Globus Pallidus3.73 ± 0.62
Hypothalamus3.29 ± 0.39
Insula3.71 ± 0.62
Limbic Lobe4.06 ± 0.62
Mesencephalon3.77 ± 0.59
Myelencephalon3.89 ± 0.55
Occipital Lobe4.18 ± 0.71
Parietal Lobe3.85 ± 0.61
Pontine Tegmentum3.86 ± 0.58
Striatum3.8 ± 0.53
Subthalamus3.86 ± 0.22
Temporal Lobe3.83 ± 0.62
Thalamus3.9 ± 0.47
White Matter4.13 ± 0.41
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00803862 10 64 73 GLEAFQFALR 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


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