AutismKB 2.0

Annotation Detail for CILP


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Basic Information Top
Gene Symbol:CILP ( CILP-1,HsT18872 )
Gene Full Name: cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
Band: 15q22.31
Quick LinksEntrez ID:8483; OMIM: 603489; Uniprot ID:CILP1_HUMAN; ENSEMBL ID: ENSG00000138615; HGNC ID: 1980
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 
fetus5 / 5640128
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult72 / 193912137
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia56 / 97250575
normal38 / 336030711
ovarian tumor5 / 7668265
pancreatic tumor5 / 10461647
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 
brain1 / 11009890 
cervix0 / 481710 
connective tissue64 / 149255428
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart3 / 8962633
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth2 / 6705229
muscle7 / 10771564
nerve0 / 157680 
ovary7 / 10205168
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach2 / 9661920
testis23 / 33044269
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea9 / 52413171
umbilical cord1 / 1368073
uterus16 / 23287868
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206227_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.6
Adipocyte371.8
AdrenalCortex3.8
Adrenalgland3.1
Amygdala4.15
Appendix26.5
AtrioventricularNode2.85
BDCA4+_DentriticCells4.05
Bonemarrow3.65
BronchialEpithelialCells3.65
CD105+_Endothelial3.8
CD14+_Monocytes3.95
CD19+_BCells(neg._sel.)3.95
CD33+_Myeloid4.75
CD34+4.75
CD4+_Tcells4.05
CD56+_NKCells4.4
CD71+_EarlyErythroid3.45
CD8+_Tcells3.6
CardiacMyocytes4.6
Caudatenucleus3.35
Cerebellum3
CerebellumPeduncles4.2
CiliaryGanglion2.6
CingulateCortex3.8
Colorectaladenocarcinoma3.7
DorsalRootGanglion2.85
FetalThyroid3.65
Fetalbrain3.75
Fetalliver3.2
Fetallung3.15
GlobusPallidus2.75
Heart18.5
Hypothalamus4.05
Kidney3
Leukemia_chronicMyelogenousK-5623.35
Leukemia_promyelocytic-HL-603.3
Leukemialymphoblastic(MOLT-4)3
Liver4.85
Lung4.15
Lymphnode3.2
Lymphoma_burkitts(Daudi)4.7
Lymphoma_burkitts(Raji)5.15
MedullaOblongata3.45
OccipitalLobe3.35
OlfactoryBulb37.7
Ovary2.45
Pancreas2.95
PancreaticIslet4
ParietalLobe3.85
Pituitary4.35
Placenta3.9
Pons5.3
PrefrontalCortex4.6
Prostate6.75
Salivarygland3.25
SkeletalMuscle4.35
Skin2.85
SmoothMuscle4.15
Spinalcord4
SubthalamicNucleus3.4
SuperiorCervicalGanglion4.45
TemporalLobe3.4
Testis13.2
TestisGermCell23.6
TestisIntersitial6.45
TestisLeydigCell5.9
TestisSeminiferousTubule3.7
Thalamus3.75
Thymus3.85
Thyroid4.7
Tongue139.7
Tonsil3.6
Trachea12.35
TrigeminalGanglion12.6
Uterus9
UterusCorpus5.5
WholeBlood4.1
Wholebrain3.15
colon5
pineal_day6.56
pineal_night7.88
retina4.55
small_intestine7.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5959_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
Amygdala4.17 ± 0.73
Basal Forebrain4.4 ± 0.41
Basal Part of Pons4.09 ± 0.51
Cerebellar Cortex3.72 ± 0.45
Cerebellar Nuclei4.91 ± 0.67
Claustrum4.06 ± 0.84
Epithalamus3.43 ± 0.59
Frontal Lobe4.22 ± 0.8
Globus Pallidus4.93 ± 0.43
Hypothalamus3.8 ± 0.7
Insula3.97 ± 0.84
Limbic Lobe4.3 ± 0.8
Mesencephalon4.51 ± 0.59
Myelencephalon4.32 ± 0.82
Occipital Lobe4.25 ± 0.81
Parietal Lobe4.26 ± 0.68
Pontine Tegmentum4.36 ± 0.75
Striatum4.94 ± 0.73
Subthalamus3.97 ± 0.36
Temporal Lobe4.16 ± 0.74
Thalamus4.67 ± 0.65
White Matter3.54 ± 0.07
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CilpCBCerebellum0.85
1.31
CilpCTXCerebral cortex0.21
0.38
CilpHIPHippocampal region0.65
0.98
CilpHPFHippocampal formation0.5
0.67
CilpHYHypothalamus0.05
0.06
CilpLSXLateral septal complex0
0
CilpMBMidbrain0.17
0.3
CilpMYMedulla1.86
2.66
CilpOLFOlfactory bulb0.17
0.18
CilpPPons0.11
0.19
CilpPALPallidum0.06
0.07
CilpRHPRetrohippocampal region0.26
0.28
CilpsAMYStriatum-like amygdalar nuclei0.09
0.29
CilpSTRStriatum0.05
0.1
CilpSTRdStriatum dorsal region0.04
0.07
CilpSTRvStriatum ventral region0.04
0.06
CilpTHThalamus0.13
0.17
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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