AutismKB 2.0

Annotation Detail for CELF1


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Basic Information Top
Gene Symbol:CELF1 ( BRUNOL2,CUG-BP,CUGBP,CUGBP1,EDEN-BP,NAB50,NAPOR,hNab50 )
Gene Full Name: CUGBP, Elav-like family member 1
Band: 11p11.2
Quick LinksEntrez ID:10658; OMIM: 601074; Uniprot ID:CELF1_HUMAN; ENSEMBL ID: ENSG00000149187; HGNC ID: 2549
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 body14 / 70761197
blastocyst11 / 62319176
fetus137 / 564012242
neonate3 / 3109796
infant5 / 23620211
juvenile6 / 55556107
adult267 / 1939121137
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor14 / 94178148
cervical tumor3 / 3436687
chondrosarcoma7 / 8282384
colorectal tumor21 / 114246183
esophageal tumor1 / 1729057
gastrointestinal tumor25 / 119369209
germ cell tumor58 / 263845219
glioma8 / 10688374
head and neck tumor24 / 136302176
kidney tumor6 / 6895987
leukemia14 / 95842146
liver tumor11 / 96359114
lung tumor22 / 103127213
lymphoma11 / 71755153
non-neoplasia7 / 9725071
normal513 / 3360307152
ovarian tumor9 / 76682117
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS18 / 125680143
prostate cancer8 / 10268077
retinoblastoma10 / 46356215
skin tumor14 / 124949112
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland5 / 33197150
ascites20 / 40015499
bladder3 / 29757100
blood13 / 123478105
bone11 / 71655153
bone marrow2 / 4880140
brain215 / 1100989195
cervix4 / 4817183
connective tissue12 / 14925580
ear1 / 1621261
embryonic tissue42 / 215722194
esophagus1 / 2020949
eye46 / 211054217
heart5 / 8962655
intestine28 / 234472119
kidney12 / 21177756
larynx4 / 24145165
liver27 / 207743129
lung61 / 336974181
lymph9 / 44270203
lymph node30 / 91610327
mammary gland21 / 153271137
mouth14 / 67052208
muscle3 / 10771527
nerve0 / 157680 
ovary12 / 102051117
pancreas14 / 21481265
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta22 / 28082578
prostate18 / 18934595
salivary gland1 / 2015549
skin25 / 210574118
spleen13 / 53952240
stomach5 / 9661951
testis52 / 330442157
thymus19 / 81131234
thyroid11 / 47473231
tonsil0 / 169990 
trachea12 / 52413228
umbilical cord1 / 1368073
uterus41 / 232878176
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204113_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.85
Adipocyte4.1
AdrenalCortex4.25
Adrenalgland3.5
Amygdala4.4
Appendix4.1
AtrioventricularNode3.1
BDCA4+_DentriticCells4.75
Bonemarrow4.05
BronchialEpithelialCells4.45
CD105+_Endothelial5.55
CD14+_Monocytes4.4
CD19+_BCells(neg._sel.)4.75
CD33+_Myeloid5.4
CD34+5.35
CD4+_Tcells6.75
CD56+_NKCells5.1
CD71+_EarlyErythroid4.1
CD8+_Tcells4.45
CardiacMyocytes5.5
Caudatenucleus3.7
Cerebellum3.35
CerebellumPeduncles4.65
CiliaryGanglion3.2
CingulateCortex4.2
Colorectaladenocarcinoma4.15
DorsalRootGanglion3.2
FetalThyroid4
Fetalbrain4.1
Fetalliver3.6
Fetallung3.35
GlobusPallidus3.15
Heart5.35
Hypothalamus4.3
Kidney3.35
Leukemia_chronicMyelogenousK-5623.75
Leukemia_promyelocytic-HL-603.65
Leukemialymphoblastic(MOLT-4)3.35
Liver5.4
Lung4.65
Lymphnode3.55
Lymphoma_burkitts(Daudi)5.2
Lymphoma_burkitts(Raji)5.8
MedullaOblongata3.75
OccipitalLobe3.7
OlfactoryBulb3.25
Ovary2.9
Pancreas3.3
PancreaticIslet4.5
ParietalLobe4.3
Pituitary4.8
Placenta4.4
Pons3.9
PrefrontalCortex5.2
Prostate4.9
Salivarygland3.35
SkeletalMuscle4.7
Skin3.1
SmoothMuscle4.8
Spinalcord4.4
SubthalamicNucleus3.7
SuperiorCervicalGanglion4.7
TemporalLobe3.75
Testis3.6
TestisGermCell3.55
TestisIntersitial3.45
TestisLeydigCell4.05
TestisSeminiferousTubule3.5
Thalamus4.2
Thymus3.35
Thyroid5.25
Tongue3.95
Tonsil4.05
Trachea3.45
TrigeminalGanglion4.3
Uterus3.4
UterusCorpus3.85
WholeBlood4.55
Wholebrain3.6
colon4.75
pineal_day5.28
pineal_night6.08
retina5.075
small_intestine4.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13995_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
Amygdala6.07 ± 0.5
Basal Forebrain6.24 ± 0.14
Basal Part of Pons6.08 ± 0.25
Cerebellar Cortex6.56 ± 0.19
Cerebellar Nuclei5.72 ± 0.4
Claustrum6.02 ± 0.49
Epithalamus6.2 ± 0.33
Frontal Lobe6.19 ± 0.4
Globus Pallidus5.37 ± 0.21
Hypothalamus6.11 ± 0.48
Insula6.29 ± 0.44
Limbic Lobe6.2 ± 0.46
Mesencephalon6.02 ± 0.53
Myelencephalon6.15 ± 0.39
Occipital Lobe6.19 ± 0.34
Parietal Lobe6.15 ± 0.35
Pontine Tegmentum6.11 ± 0.47
Striatum6.29 ± 0.45
Subthalamus6.08 ± 0.59
Temporal Lobe6.25 ± 0.35
Thalamus6.14 ± 0.32
White Matter5.66 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cugbp1CBCerebellum13.72
20.31
Cugbp1CTXCerebral cortex100
100
Cugbp1HIPHippocampal region99.13
100
Cugbp1HPFHippocampal formation89.05
100
Cugbp1HYHypothalamus21.5
18.16
Cugbp1LSXLateral septal complex64.36
55.95
Cugbp1MBMidbrain12.78
12.9
Cugbp1MYMedulla3.42
4.43
Cugbp1OLFOlfactory bulb75.13
91.3
Cugbp1PPons7.47
9.34
Cugbp1PALPallidum24.4
22.89
Cugbp1RHPRetrohippocampal region67.6
64.66
Cugbp1sAMYStriatum-like amygdalar nuclei70.57
60.22
Cugbp1STRStriatum100
100
Cugbp1STRdStriatum dorsal region100
100
Cugbp1STRvStriatum ventral region91.52
83.2
Cugbp1THThalamus59.47
58.6
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CELF1_HUMAN_125 13 125 137 VMFSSFGQIEECR PRIDE
CELF1_HUMAN_18 8 18 25 MFVGQVPR PRIDE
CELF1_HUMAN_84 18 84 101 VLPGMHHPIQMKPADSEK PRIDE
PAp00009288 18 167 184 AMHQAQTMEGCSSPMVVK 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


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