AutismKB 2.0

Annotation Detail for C1orf54


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Basic Information Top
Gene Symbol:C1orf54 ( FLJ23221 )
Gene Full Name: chromosome 1 open reading frame 54
Band: 1q21.2
Quick LinksEntrez ID:79630; OMIM: NA; Uniprot ID:CA054_HUMAN; ENSEMBL ID: ENSG00000118292; HGNC ID: 26258
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 
blastocyst1 / 6231916
fetus26 / 56401246
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult16 / 19391218
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 
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma7 / 10688365
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal59 / 336030717
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain12 / 110098910
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart10 / 89626111
intestine1 / 2344724
kidney4 / 21177718
larynx1 / 2414541
liver2 / 2077439
lung10 / 33697429
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach0 / 966190 
testis7 / 33044221
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219506_at
Cell line Expression level Expression bar
721_B_lymphoblasts109.25
Adipocyte6.3
AdrenalCortex6.6
Adrenalgland5.35
Amygdala6.85
Appendix6.55
AtrioventricularNode4.85
BDCA4+_DentriticCells7.05
Bonemarrow6.6
BronchialEpithelialCells6.15
CD105+_Endothelial6.3
CD14+_Monocytes20.8
CD19+_BCells(neg._sel.)6.75
CD33+_Myeloid9.05
CD34+10.35
CD4+_Tcells6.65
CD56+_NKCells10.4
CD71+_EarlyErythroid5.8
CD8+_Tcells5.6
CardiacMyocytes17.2
Caudatenucleus5.75
Cerebellum5.2
CerebellumPeduncles7.2
CiliaryGanglion6.25
CingulateCortex6.5
Colorectaladenocarcinoma6.35
DorsalRootGanglion5.1
FetalThyroid6.25
Fetalbrain6.2
Fetalliver5.45
Fetallung14.5
GlobusPallidus4.55
Heart8.45
Hypothalamus13.55
Kidney5.2
Leukemia_chronicMyelogenousK-5625.75
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)5.05
Liver8.55
Lung8.65
Lymphnode21.45
Lymphoma_burkitts(Daudi)8.15
Lymphoma_burkitts(Raji)8.8
MedullaOblongata5.75
OccipitalLobe5.8
OlfactoryBulb7.95
Ovary4.5
Pancreas5.05
PancreaticIslet6.85
ParietalLobe6.65
Pituitary7.4
Placenta7.6
Pons6.1
PrefrontalCortex8
Prostate7.55
Salivarygland5.05
SkeletalMuscle7.45
Skin4.8
SmoothMuscle63.05
Spinalcord16.6
SubthalamicNucleus5.65
SuperiorCervicalGanglion7.25
TemporalLobe5.9
Testis5.8
TestisGermCell6.6
TestisIntersitial5.8
TestisLeydigCell6.45
TestisSeminiferousTubule5.45
Thalamus7.2
Thymus9.45
Thyroid7.95
Tongue6.35
Tonsil6.45
Trachea5.35
TrigeminalGanglion6.45
Uterus8.55
UterusCorpus6.05
WholeBlood6.45
Wholebrain9
colon7.65
pineal_day7.48
pineal_night7.46
retina10.95
small_intestine7.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7187_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
Amygdala7.35 ± 0.23
Basal Forebrain7.55 ± 0.19
Basal Part of Pons6.93 ± 0.41
Cerebellar Cortex7.13 ± 0.21
Cerebellar Nuclei7.8 ± 0.48
Claustrum6.68 ± 0.6
Epithalamus7.64 ± 0.42
Frontal Lobe7.49 ± 0.42
Globus Pallidus8.73 ± 0.37
Hypothalamus7.65 ± 0.41
Insula7.57 ± 0.38
Limbic Lobe7.21 ± 0.53
Mesencephalon7.59 ± 0.51
Myelencephalon7.53 ± 0.53
Occipital Lobe7.51 ± 0.39
Parietal Lobe7.43 ± 0.45
Pontine Tegmentum7.8 ± 0.37
Striatum8.38 ± 0.35
Subthalamus7.68 ± 0.22
Temporal Lobe7.41 ± 0.37
Thalamus7.86 ± 0.44
White Matter6.39 ± 0.74
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC028528CBCerebellum0
0
BC028528CTXCerebral cortex0
0
BC028528HIPHippocampal region0
0
BC028528HPFHippocampal formation0
0
BC028528HYHypothalamus0
0
BC028528LSXLateral septal complex0
0
BC028528MBMidbrain0
0
BC028528MYMedulla0
0
BC028528OLFOlfactory bulb0
0
BC028528PPons0
0
BC028528PALPallidum0
0
BC028528RHPRetrohippocampal region0
0
BC028528sAMYStriatum-like amygdalar nuclei0
0
BC028528STRStriatum0
0
BC028528STRdStriatum dorsal region0
0
BC028528STRvStriatum ventral region0
0
BC028528THThalamus0
0
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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