AutismKB 2.0

Annotation Detail for CEP57L1


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Basic Information Top
Gene Symbol:CEP57L1 ( C6orf182,MGC21731,MGC70837,bA487F23.2,cep57R )
Gene Full Name: centrosomal protein 57kDa-like 1
Band: 6q21
Quick LinksEntrez ID:285753; OMIM: NA; Uniprot ID:CE57L_HUMAN; ENSEMBL ID: ENSG00000183137; HGNC ID: 21561
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 body2 / 7076128
blastocyst0 / 623190 
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult29 / 193912114
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia7 / 9584273
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal46 / 336030713
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites3 / 4001574
bladder2 / 2975767
blood10 / 12347880
bone0 / 716550 
bone marrow2 / 4880140
brain13 / 110098911
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver3 / 20774314
lung3 / 3369748
lymph2 / 4427045
lymph node4 / 9161043
mammary gland4 / 15327126
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis10 / 33044230
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
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_P59358
  • 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
Amygdala8.48 ± 0.19
Basal Forebrain8.27 ± 0.21
Basal Part of Pons8.23 ± 0.15
Cerebellar Cortex8.4 ± 0.18
Cerebellar Nuclei8.14 ± 0.21
Claustrum8.55 ± 0.2
Epithalamus8.32 ± 0.17
Frontal Lobe8.13 ± 0.24
Globus Pallidus8.27 ± 0.15
Hypothalamus8.01 ± 0.27
Insula8.22 ± 0.2
Limbic Lobe8.36 ± 0.25
Mesencephalon8.14 ± 0.32
Myelencephalon8.21 ± 0.23
Occipital Lobe8.42 ± 0.22
Parietal Lobe8.28 ± 0.22
Pontine Tegmentum8.19 ± 0.26
Striatum7.94 ± 0.19
Subthalamus8.02 ± 0.24
Temporal Lobe8.28 ± 0.21
Thalamus8.17 ± 0.18
White Matter8.73 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2410017P07RikCBCerebellum1.05
1.66
2410017P07RikCTXCerebral cortex0.88
0.73
2410017P07RikHIPHippocampal region1.14
1.18
2410017P07RikHPFHippocampal formation0.97
1
2410017P07RikHYHypothalamus0.15
0.17
2410017P07RikLSXLateral septal complex0.06
0.09
2410017P07RikMBMidbrain0.36
0.59
2410017P07RikMYMedulla0.44
0.59
2410017P07RikOLFOlfactory bulb2.08
2.95
2410017P07RikPPons0.3
0.63
2410017P07RikPALPallidum0.15
0.19
2410017P07RikRHPRetrohippocampal region0.64
0.66
2410017P07RiksAMYStriatum-like amygdalar nuclei0.18
0.23
2410017P07RikSTRStriatum0.5
0.5
2410017P07RikSTRdStriatum dorsal region0.49
0.52
2410017P07RikSTRvStriatum ventral region0.72
0.57
2410017P07RikTHThalamus0.33
0.35
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