AutismKB 2.0

Annotation Detail for ELMO1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ELMO1 ( CED-12,CED12,ELMO-1,KIAA0281,MGC126406 )
Gene Full Name: engulfment and cell motility 1
Band: 7p14.2-p14.1
Quick LinksEntrez ID:9844; OMIM: 606420; Uniprot ID:ELMO1_HUMAN; ENSEMBL ID: ENSG00000155849; HGNC ID: 16286
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
blastocyst1 / 6231916
fetus73 / 564012129
neonate2 / 3109764
infant0 / 236200 
juvenile9 / 55556161
adult108 / 193912155
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor23 / 26384587
glioma3 / 10688328
head and neck tumor8 / 13630258
kidney tumor19 / 68959275
leukemia7 / 9584273
liver tumor1 / 9635910
lung tumor6 / 10312758
lymphoma7 / 7175597
non-neoplasia12 / 97250123
normal504 / 3360307149
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood15 / 123478121
bone0 / 716550 
bone marrow4 / 4880181
brain446 / 1100989405
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine0 / 2344720 
kidney20 / 21177794
larynx6 / 24145248
liver1 / 2077434
lung10 / 33697429
lymph1 / 4427022
lymph node8 / 9161087
mammary gland2 / 15327113
mouth1 / 6705214
muscle5 / 10771546
nerve0 / 157680 
ovary1 / 1020519
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta28 / 28082599
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen5 / 5395292
stomach0 / 966190 
testis16 / 33044248
thymus10 / 81131123
thyroid13 / 47473273
tonsil2 / 16999117
trachea8 / 52413152
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204513_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts594
Adipocyte11.45
AdrenalCortex7.8
Adrenalgland17.5
Amygdala186.2
Appendix28.55
AtrioventricularNode10.05
BDCA4+_DentriticCells135.15
Bonemarrow73.7
BronchialEpithelialCells7.95
CD105+_Endothelial17.6
CD14+_Monocytes108.55
CD19+_BCells(neg._sel.)100
CD33+_Myeloid133.25
CD34+186.2
CD4+_Tcells84.2
CD56+_NKCells89.7
CD71+_EarlyErythroid7.45
CD8+_Tcells49.8
CardiacMyocytes12.6
Caudatenucleus152.65
Cerebellum611.05
CerebellumPeduncles238.3
CiliaryGanglion8.25
CingulateCortex317.55
Colorectaladenocarcinoma7.35
DorsalRootGanglion12.95
FetalThyroid226.8
Fetalbrain106.9
Fetalliver18.25
Fetallung20.8
GlobusPallidus109.05
Heart30.45
Hypothalamus160.75
Kidney12.4
Leukemia_chronicMyelogenousK-5627.25
Leukemia_promyelocytic-HL-6056
Leukemialymphoblastic(MOLT-4)15.1
Liver29.15
Lung46.85
Lymphnode36.5
Lymphoma_burkitts(Daudi)88.25
Lymphoma_burkitts(Raji)57.85
MedullaOblongata285.6
OccipitalLobe281.35
OlfactoryBulb123.85
Ovary5.65
Pancreas6
PancreaticIslet93
ParietalLobe195.75
Pituitary28.8
Placenta63.1
Pons123.15
PrefrontalCortex445.3
Prostate9.15
Salivarygland17.05
SkeletalMuscle21.3
Skin10.3
SmoothMuscle7.9
Spinalcord71.25
SubthalamicNucleus266.55
SuperiorCervicalGanglion17.35
TemporalLobe182.85
Testis21.95
TestisGermCell8
TestisIntersitial6.3
TestisLeydigCell7.55
TestisSeminiferousTubule6.4
Thalamus497.2
Thymus41.55
Thyroid73.3
Tongue7.85
Tonsil37.4
Trachea17.6
TrigeminalGanglion14.4
Uterus9.9
UterusCorpus11.55
WholeBlood90.9
Wholebrain475.85
colon11.7
pineal_day16.3
pineal_night18.76
retina86.35
small_intestine23.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P72420
  • 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
Amygdala7.46 ± 0.32
Basal Forebrain7.75 ± 0.17
Basal Part of Pons8.2 ± 0.32
Cerebellar Cortex7.83 ± 0.35
Cerebellar Nuclei7.58 ± 0.32
Claustrum8.21 ± 0.56
Epithalamus6.35 ± 1
Frontal Lobe7.37 ± 0.54
Globus Pallidus7.21 ± 0.33
Hypothalamus7.02 ± 0.61
Insula7.12 ± 0.51
Limbic Lobe7.37 ± 0.73
Mesencephalon7.4 ± 0.49
Myelencephalon7.48 ± 0.6
Occipital Lobe7.48 ± 0.43
Parietal Lobe7.53 ± 0.61
Pontine Tegmentum7.39 ± 0.54
Striatum7.51 ± 0.59
Subthalamus7.34 ± 0.05
Temporal Lobe7.38 ± 0.55
Thalamus7.9 ± 0.34
White Matter8.99 ± 0.79
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Elmo1CBCerebellum40.19
80.8
Elmo1CTXCerebral cortex40.18
35.8
Elmo1HIPHippocampal region11.17
14.96
Elmo1HPFHippocampal formation20.89
24.36
Elmo1HYHypothalamus28.22
28.16
Elmo1LSXLateral septal complex42.76
38.81
Elmo1MBMidbrain36.4
41.11
Elmo1MYMedulla32.64
48.93
Elmo1OLFOlfactory bulb51.68
53.05
Elmo1PPons37.96
59.07
Elmo1PALPallidum60.23
83.33
Elmo1RHPRetrohippocampal region34.43
35
Elmo1sAMYStriatum-like amygdalar nuclei57.8
58.01
Elmo1STRStriatum66.27
62.28
Elmo1STRdStriatum dorsal region65.72
62.14
Elmo1STRvStriatum ventral region79.73
75.65
Elmo1THThalamus82.43
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ELMO1_HUMAN_218 18 218 235 LLDLENIQIPDAPPPIPK PRIDE
PAp00008425 23 585 607 VLHYGDLEESPQGEVPHDSLQDK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved