AutismKB 2.0

Annotation Detail for ERC1


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Basic Information Top
Gene Symbol:ERC1 ( Cast2,ELKS,FLJ31750,KIAA1081,MGC12974,RAB6IP2 )
Gene Full Name: ELKS/RAB6-interacting/CAST family member 1
Band: 12p13.33
Quick LinksEntrez ID:23085; OMIM: 607127; Uniprot ID:RB6I2_HUMAN; ENSEMBL ID: ENSG00000082805; HGNC ID: 17072
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
blastocyst2 / 6231932
fetus48 / 56401285
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult132 / 193912168
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor10 / 94178106
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor20 / 26384575
glioma3 / 10688328
head and neck tumor7 / 13630251
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma7 / 7175597
non-neoplasia0 / 972500 
normal142 / 336030742
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor13 / 124949104
soft tissue/muscle tissue tumor21 / 125191167
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone3 / 7165541
bone marrow0 / 488010 
brain40 / 110098936
cervix1 / 4817120
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye12 / 21105456
heart3 / 8962633
intestine7 / 23447229
kidney9 / 21177742
larynx2 / 2414582
liver3 / 20774314
lung14 / 33697441
lymph3 / 4427067
lymph node7 / 9161076
mammary gland14 / 15327191
mouth4 / 6705259
muscle5 / 10771546
nerve0 / 157680 
ovary5 / 10205148
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta10 / 28082535
prostate5 / 18934526
salivary gland0 / 201550 
skin19 / 21057490
spleen1 / 5395218
stomach11 / 96619113
testis9 / 33044227
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215606_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.45
Adipocyte9.65
AdrenalCortex10.15
Adrenalgland9.5
Amygdala14
Appendix12.75
AtrioventricularNode12.15
BDCA4+_DentriticCells8.1
Bonemarrow10.2
BronchialEpithelialCells9.65
CD105+_Endothelial9.3
CD14+_Monocytes9.95
CD19+_BCells(neg._sel.)8.8
CD33+_Myeloid11.05
CD34+12.35
CD4+_Tcells7.8
CD56+_NKCells9
CD71+_EarlyErythroid8.9
CD8+_Tcells6.85
CardiacMyocytes11.8
Caudatenucleus10.45
Cerebellum26.55
CerebellumPeduncles33.95
CiliaryGanglion10.55
CingulateCortex10.3
Colorectaladenocarcinoma9.75
DorsalRootGanglion16.5
FetalThyroid9.4
Fetalbrain20.8
Fetalliver8.25
Fetallung8.2
GlobusPallidus10
Heart13.05
Hypothalamus10.7
Kidney8.85
Leukemia_chronicMyelogenousK-5628.35
Leukemia_promyelocytic-HL-608.55
Leukemialymphoblastic(MOLT-4)8
Liver12.55
Lung15.15
Lymphnode8.2
Lymphoma_burkitts(Daudi)15.45
Lymphoma_burkitts(Raji)13.8
MedullaOblongata8.9
OccipitalLobe8.8
OlfactoryBulb7.4
Ovary6.45
Pancreas7.6
PancreaticIslet9.6
ParietalLobe11
Pituitary12.35
Placenta10.2
Pons11.35
PrefrontalCortex11.85
Prostate14.6
Salivarygland7.6
SkeletalMuscle17.75
Skin12.9
SmoothMuscle10.25
Spinalcord10.4
SubthalamicNucleus8.6
SuperiorCervicalGanglion16.35
TemporalLobe8.75
Testis7.9
TestisGermCell7.35
TestisIntersitial7.9
TestisLeydigCell10.1
TestisSeminiferousTubule7.9
Thalamus9.85
Thymus7.8
Thyroid11.7
Tongue9.75
Tonsil9.45
Trachea8.05
TrigeminalGanglion9.3
Uterus8.05
UterusCorpus8.55
WholeBlood9.55
Wholebrain8.95
colon8.85
pineal_day12.76
pineal_night12.28
retina10.625
small_intestine8.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P258377
  • 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
Amygdala9.52 ± 0.3
Basal Forebrain9.54 ± 0.23
Basal Part of Pons8.58 ± 0.23
Cerebellar Cortex9.56 ± 0.27
Cerebellar Nuclei8.48 ± 0.16
Claustrum8.89 ± 0.4
Epithalamus8.63 ± 0.42
Frontal Lobe8.95 ± 0.4
Globus Pallidus9.93 ± 0.53
Hypothalamus9.14 ± 0.48
Insula9 ± 0.35
Limbic Lobe9.42 ± 0.37
Mesencephalon9.27 ± 0.39
Myelencephalon9.14 ± 0.48
Occipital Lobe9.26 ± 0.43
Parietal Lobe9.09 ± 0.45
Pontine Tegmentum9.2 ± 0.37
Striatum9.66 ± 0.78
Subthalamus8.95 ± 0.33
Temporal Lobe8.97 ± 0.3
Thalamus9.05 ± 0.32
White Matter8.85 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Erc1CBCerebellum47.52
56.37
Erc1CTXCerebral cortex4.35
3.01
Erc1HIPHippocampal region14.55
13.34
Erc1HPFHippocampal formation10.1
8.53
Erc1HYHypothalamus0.65
0.42
Erc1LSXLateral septal complex0.68
0.55
Erc1MBMidbrain1.34
1.1
Erc1MYMedulla4.08
3.96
Erc1OLFOlfactory bulb4.76
4.23
Erc1PPons4.58
5.18
Erc1PALPallidum0.54
0.39
Erc1RHPRetrohippocampal region2.5
1.8
Erc1sAMYStriatum-like amygdalar nuclei0.16
0.11
Erc1STRStriatum0.49
0.39
Erc1STRdStriatum dorsal region0.31
0.33
Erc1STRvStriatum ventral region1.14
0.65
Erc1THThalamus8.71
6.1
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011674 16 254 269 TGEPCVAELTEENFQR Peptide Atlas
RB6I2_HUMAN_217 21 217 237 VVQEENQHMQMTIQALQDELR PRIDE
RB6I2_HUMAN_544 9 544 552 QIQDMAEEK PRIDE

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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