AutismKB 2.0

Annotation Detail for C11orf54


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C11orf54 ( PTD012 )
Gene Full Name: chromosome 11 open reading frame 54
Band: 11q21
Quick LinksEntrez ID:28970; OMIM: NA; Uniprot ID:CK054_HUMAN; ENSEMBL ID: ENSG00000182919; HGNC ID: 30204
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 body1 / 7076114
blastocyst0 / 623190 
fetus26 / 56401246
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult71 / 193912136
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor7 / 26384526
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor5 / 9635951
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia8 / 9725082
normal152 / 336030745
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow6 / 48801122
brain26 / 110098923
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye6 / 21105428
heart0 / 896260 
intestine6 / 23447225
kidney52 / 211777245
larynx0 / 241450 
liver13 / 20774362
lung6 / 33697417
lymph1 / 4427022
lymph node8 / 9161087
mammary gland7 / 15327145
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta12 / 28082542
prostate6 / 18934531
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach5 / 9661951
testis7 / 33044221
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord1 / 1368073
uterus3 / 23287812
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P202750
  • 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
Amygdala7.72 ± 0.34
Basal Forebrain7.93 ± 0.19
Basal Part of Pons7.43 ± 0.23
Cerebellar Cortex7.61 ± 0.18
Cerebellar Nuclei7.98 ± 0.4
Claustrum7.75 ± 0.23
Epithalamus8.12 ± 0.29
Frontal Lobe7.6 ± 0.27
Globus Pallidus8.59 ± 0.26
Hypothalamus7.88 ± 0.24
Insula7.62 ± 0.22
Limbic Lobe7.66 ± 0.34
Mesencephalon7.96 ± 0.24
Myelencephalon7.79 ± 0.34
Occipital Lobe8.03 ± 0.36
Parietal Lobe7.82 ± 0.29
Pontine Tegmentum7.82 ± 0.21
Striatum8.05 ± 0.27
Subthalamus7.91 ± 0.08
Temporal Lobe7.6 ± 0.23
Thalamus7.73 ± 0.24
White Matter8.99 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4931406C07RikCBCerebellum17.42
20.4
4931406C07RikCTXCerebral cortex56.05
39.3
4931406C07RikHIPHippocampal region39.88
36.92
4931406C07RikHPFHippocampal formation53.3
45.37
4931406C07RikHYHypothalamus2.24
1.48
4931406C07RikLSXLateral septal complex0.23
0.15
4931406C07RikMBMidbrain4.77
4.09
4931406C07RikMYMedulla4.87
4.05
4931406C07RikOLFOlfactory bulb39.43
30.59
4931406C07RikPPons6.32
6.55
4931406C07RikPALPallidum6.4
5.12
4931406C07RikRHPRetrohippocampal region76.23
57.8
4931406C07RiksAMYStriatum-like amygdalar nuclei46.29
32.3
4931406C07RikSTRStriatum33.43
23.39
4931406C07RikSTRdStriatum dorsal region44.44
31.51
4931406C07RikSTRvStriatum ventral region9.12
6.45
4931406C07RikTHThalamus8.01
5.38
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000633 12 195 206 APLVCLPVFVSR 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