AutismKB 2.0

Annotation Detail for CECR5


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CECR5 ( - )
Gene Full Name: cat eye syndrome chromosome region, candidate 5
Band: -
Quick LinksEntrez ID:27440; OMIM: NA; Uniprot ID:CECR5_HUMAN; ENSEMBL ID: ENSG00000069998; HGNC ID:
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
blastocyst7 / 62319112
fetus40 / 56401270
neonate0 / 310970 
infant1 / 2362042
juvenile4 / 5555671
adult135 / 193912169
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) tumor9 / 9417895
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor2 / 17290115
gastrointestinal tumor12 / 119369100
germ cell tumor14 / 26384553
glioma14 / 106883130
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia19 / 95842198
liver tumor1 / 9635910
lung tumor7 / 10312767
lymphoma13 / 71755181
non-neoplasia3 / 9725030
normal162 / 336030748
ovarian tumor0 / 766820 
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS22 / 125680175
prostate cancer39 / 102680379
retinoblastoma7 / 46356151
skin tumor6 / 12494948
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites5 / 40015124
bladder1 / 2975733
blood25 / 123478202
bone4 / 7165555
bone marrow0 / 488010 
brain65 / 110098959
cervix10 / 48171207
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus3 / 20209148
eye12 / 21105456
heart5 / 8962655
intestine13 / 23447255
kidney2 / 2117779
larynx1 / 2414541
liver7 / 20774333
lung12 / 33697435
lymph5 / 44270112
lymph node3 / 9161032
mammary gland8 / 15327152
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary4 / 10205139
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta7 / 28082524
prostate46 / 189345242
salivary gland4 / 20155198
skin10 / 21057447
spleen2 / 5395237
stomach11 / 96619113
testis12 / 33044236
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218592_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts671
Adipocyte27.8
AdrenalCortex37.45
Adrenalgland45.95
Amygdala32.45
Appendix29.75
AtrioventricularNode20.8
BDCA4+_DentriticCells195.8
Bonemarrow27.85
BronchialEpithelialCells42.05
CD105+_Endothelial27.3
CD14+_Monocytes297.9
CD19+_BCells(neg._sel.)163.35
CD33+_Myeloid533.75
CD34+235.7
CD4+_Tcells142.3
CD56+_NKCells196.7
CD71+_EarlyErythroid21.8
CD8+_Tcells140.05
CardiacMyocytes49.7
Caudatenucleus26.3
Cerebellum26.5
CerebellumPeduncles30.6
CiliaryGanglion18.3
CingulateCortex33.15
Colorectaladenocarcinoma70.5
DorsalRootGanglion22.7
FetalThyroid28.65
Fetalbrain52.4
Fetalliver26.2
Fetallung26.9
GlobusPallidus18.05
Heart241.65
Hypothalamus27.9
Kidney32.15
Leukemia_chronicMyelogenousK-56222.15
Leukemia_promyelocytic-HL-60348.05
Leukemialymphoblastic(MOLT-4)124.7
Liver118.7
Lung107.1
Lymphnode24.35
Lymphoma_burkitts(Daudi)310
Lymphoma_burkitts(Raji)385.55
MedullaOblongata23.1
OccipitalLobe22.55
OlfactoryBulb25.65
Ovary20.2
Pancreas22.45
PancreaticIslet37.5
ParietalLobe23.05
Pituitary26.15
Placenta27.25
Pons28.25
PrefrontalCortex39.55
Prostate68.15
Salivarygland24.5
SkeletalMuscle34.2
Skin23.6
SmoothMuscle57.4
Spinalcord29.6
SubthalamicNucleus23.7
SuperiorCervicalGanglion30.1
TemporalLobe25.35
Testis35.15
TestisGermCell26.55
TestisIntersitial25.65
TestisLeydigCell23.95
TestisSeminiferousTubule31.3
Thalamus28.25
Thymus40.8
Thyroid62.1
Tongue35.55
Tonsil28.35
Trachea22.35
TrigeminalGanglion33
Uterus25.75
UterusCorpus22.4
WholeBlood79.85
Wholebrain53.05
colon40.95
pineal_day62.02
pineal_night65.94
retina51.65
small_intestine104.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10552_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
Amygdala3.14 ± 0.73
Basal Forebrain2.65 ± 0.4
Basal Part of Pons2.66 ± 0.34
Cerebellar Cortex3.27 ± 0.57
Cerebellar Nuclei2.95 ± 0.68
Claustrum3.44 ± 0.59
Epithalamus2.47 ± 0.63
Frontal Lobe2.9 ± 0.75
Globus Pallidus2.53 ± 0.55
Hypothalamus2.82 ± 0.81
Insula3.01 ± 0.33
Limbic Lobe2.96 ± 0.58
Mesencephalon3.04 ± 0.69
Myelencephalon2.91 ± 0.63
Occipital Lobe3.15 ± 0.42
Parietal Lobe2.89 ± 0.7
Pontine Tegmentum2.98 ± 0.7
Striatum2.79 ± 0.68
Subthalamus2.96 ± 0.75
Temporal Lobe2.95 ± 0.66
Thalamus2.81 ± 0.8
White Matter2.61 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cecr5CBCerebellum28.07
25.32
Cecr5CTXCerebral cortex100
57.19
Cecr5HIPHippocampal region41.19
28.23
Cecr5HPFHippocampal formation51.52
28.72
Cecr5HYHypothalamus55.91
21.79
Cecr5LSXLateral septal complex38.71
11.69
Cecr5MBMidbrain42.91
16.9
Cecr5MYMedulla44.48
20.35
Cecr5OLFOlfactory bulb99.25
47.27
Cecr5PPons44.52
18.74
Cecr5PALPallidum60.29
24.88
Cecr5RHPRetrohippocampal region67.73
29.47
Cecr5sAMYStriatum-like amygdalar nuclei100
48.28
Cecr5STRStriatum87.94
33.14
Cecr5STRdStriatum dorsal region80.63
29.64
Cecr5STRvStriatum ventral region100
41.91
Cecr5THThalamus51.61
19.73
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CECR5_HUMAN_161 13 161 173 MAFPLLDMVDLER PRIDE
CECR5_HUMAN_162 13 162 174 MAFPLLDMVDLER PRIDE
CECR5_HUMAN_389 28 389 416 DLCFSPGLMEASHVVNDVNEAVQLVFRK PRIDE
CECR5_HUMAN_82 17 82 98 VPVVFVTNAGNILQHSK PRIDE
PAp00024229 25 70 94 AQELSALLGCEVDADQVILSHSPMK 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