AutismKB 2.0

Annotation Detail for C18orf54


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Basic Information Top
Gene Symbol:C18orf54 ( LAS2,MGC33382 )
Gene Full Name: chromosome 18 open reading frame 54
Band: 18q21.2
Quick LinksEntrez ID:162681; OMIM: 613258; Uniprot ID:CR054_HUMAN; ENSEMBL ID: ENSG00000166845; HGNC ID: 13796
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 body5 / 7076170
blastocyst4 / 6231964
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult22 / 193912111
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 
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal57 / 336030716
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
blood3 / 12347824
bone2 / 7165527
bone marrow1 / 4880120
brain4 / 11009893
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine5 / 23447221
kidney0 / 2117770 
larynx0 / 241450 
liver3 / 20774314
lung3 / 3369748
lymph0 / 442700 
lymph node10 / 91610109
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta10 / 28082535
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis18 / 33044254
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P300797
  • 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
Amygdala4.05 ± 0.82
Basal Forebrain4.89 ± 0.8
Basal Part of Pons4.61 ± 0.78
Cerebellar Cortex4.53 ± 0.37
Cerebellar Nuclei5.42 ± 0.55
Claustrum4.57 ± 0.84
Epithalamus4.88 ± 0.43
Frontal Lobe4.48 ± 0.71
Globus Pallidus5.8 ± 0.42
Hypothalamus4.42 ± 0.53
Insula4.34 ± 0.61
Limbic Lobe4.22 ± 0.61
Mesencephalon4.6 ± 0.79
Myelencephalon4.56 ± 0.63
Occipital Lobe4.48 ± 0.68
Parietal Lobe4.4 ± 0.73
Pontine Tegmentum4.63 ± 0.56
Striatum4.65 ± 0.59
Subthalamus4.85 ± 0.51
Temporal Lobe4.35 ± 0.57
Thalamus4.8 ± 0.54
White Matter7.34 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4930503L19RikCBCerebellum13.97
16.1
4930503L19RikCTXCerebral cortex17.42
13.39
4930503L19RikHIPHippocampal region10.31
9.59
4930503L19RikHPFHippocampal formation11.07
9.14
4930503L19RikHYHypothalamus7.1
5.37
4930503L19RikLSXLateral septal complex2.69
2.21
4930503L19RikMBMidbrain9.53
8.6
4930503L19RikMYMedulla18.46
17.2
4930503L19RikOLFOlfactory bulb25.26
19.84
4930503L19RikPPons14.57
12.76
4930503L19RikPALPallidum6.59
6.08
4930503L19RikRHPRetrohippocampal region13.12
8.89
4930503L19RiksAMYStriatum-like amygdalar nuclei4.81
3.37
4930503L19RikSTRStriatum6.25
4.73
4930503L19RikSTRdStriatum dorsal region5.83
4.72
4930503L19RikSTRvStriatum ventral region9.93
6.39
4930503L19RikTHThalamus7.85
6.87
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