AutismKB 2.0

Annotation Detail for ERCC6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ERCC6 ( ARMD5,CKN2,COFS,COFS1,CSB,RAD26 )
Gene Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 6
Band: 10q11.23
Quick LinksEntrez ID:2074; OMIM: 609413; Uniprot ID:ERCC6_HUMAN; ENSEMBL ID: ENSG00000225830; HGNC ID: 3438
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 
blastocyst1 / 6231916
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult35 / 193912118
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 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal67 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood2 / 12347816
bone2 / 7165527
bone marrow0 / 488010 
brain17 / 110098915
cervix0 / 481710 
connective tissue1 / 1492556
ear2 / 16212123
embryonic tissue2 / 2157229
esophagus1 / 2020949
eye3 / 21105414
heart2 / 8962622
intestine2 / 2344728
kidney7 / 21177733
larynx0 / 241450 
liver6 / 20774328
lung4 / 33697411
lymph0 / 442700 
lymph node1 / 9161010
mammary gland4 / 15327126
mouth3 / 6705244
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate1 / 1893455
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach1 / 9661910
testis14 / 33044242
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207347_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.2
Adipocyte4.15
AdrenalCortex4.4
Adrenalgland3.55
Amygdala4.35
Appendix4.25
AtrioventricularNode3.2
BDCA4+_DentriticCells4.55
Bonemarrow4.15
BronchialEpithelialCells4.4
CD105+_Endothelial4.2
CD14+_Monocytes4.4
CD19+_BCells(neg._sel.)4.4
CD33+_Myeloid5.35
CD34+5.3
CD4+_Tcells4.5
CD56+_NKCells5
CD71+_EarlyErythroid3.9
CD8+_Tcells4.1
CardiacMyocytes5.55
Caudatenucleus3.75
Cerebellum3.4
CerebellumPeduncles4.75
CiliaryGanglion2.95
CingulateCortex4.25
Colorectaladenocarcinoma4.2
DorsalRootGanglion3.15
FetalThyroid4.05
Fetalbrain4.15
Fetalliver3.8
Fetallung3.4
GlobusPallidus3.1
Heart5.4
Hypothalamus4.5
Kidney3.45
Leukemia_chronicMyelogenousK-5623.8
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)3.35
Liver5.7
Lung4.65
Lymphnode3.6
Lymphoma_burkitts(Daudi)5.5
Lymphoma_burkitts(Raji)6
MedullaOblongata3.8
OccipitalLobe3.75
OlfactoryBulb3.3
Ovary3.8
Pancreas3.35
PancreaticIslet4.5
ParietalLobe4.45
Pituitary4.85
Placenta4.25
Pons3.95
PrefrontalCortex5.25
Prostate4.9
Salivarygland4.05
SkeletalMuscle4.85
Skin3.2
SmoothMuscle4.8
Spinalcord4.45
SubthalamicNucleus3.85
SuperiorCervicalGanglion4.8
TemporalLobe3.8
Testis3.6
TestisGermCell3.5
TestisIntersitial3.55
TestisLeydigCell4.1
TestisSeminiferousTubule3.6
Thalamus4.2
Thymus3.25
Thyroid5.25
Tongue4.2
Tonsil4.1
Trachea3.5
TrigeminalGanglion4.25
Uterus3.45
UterusCorpus3.75
WholeBlood4.55
Wholebrain3.5
colon4.25
pineal_day5.2
pineal_night5.12
retina5.05
small_intestine4.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15353_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
Amygdala5.99 ± 0.65
Basal Forebrain5.88 ± 0.46
Basal Part of Pons5.31 ± 0.46
Cerebellar Cortex5.44 ± 0.38
Cerebellar Nuclei5.49 ± 0.34
Claustrum6.27 ± 0.43
Epithalamus6.06 ± 0.41
Frontal Lobe5.41 ± 0.43
Globus Pallidus6.14 ± 0.3
Hypothalamus5.25 ± 0.22
Insula5.19 ± 0.46
Limbic Lobe5.63 ± 0.46
Mesencephalon5.67 ± 0.4
Myelencephalon5.63 ± 0.5
Occipital Lobe5.95 ± 0.55
Parietal Lobe5.61 ± 0.4
Pontine Tegmentum5.64 ± 0.46
Striatum5.98 ± 0.49
Subthalamus5.06 ± 0.62
Temporal Lobe5.44 ± 0.38
Thalamus5.45 ± 0.36
White Matter5.54 ± 0.73
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ERCC6_HUMAN_1289 10 1289 1298 VAQDALKALR PRIDE
ERCC6_HUMAN_482 17 482 498 LEDDSEESDAEFDEGFK 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


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