AutismKB 2.0

Annotation Detail for ERCC6L


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Basic Information Top
Gene Symbol:ERCC6L ( FLJ20105,MGC131695,PICH )
Gene Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 6-like
Band: Xq13.1
Quick LinksEntrez ID:54821; OMIM: 300687; Uniprot ID:ERC6L_HUMAN; ENSEMBL ID: ENSG00000186871; HGNC ID: 20794
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
blastocyst4 / 6231964
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult24 / 193912112
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor7 / 26384526
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal21 / 33603076
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow1 / 4880120
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney2 / 2117779
larynx0 / 241450 
liver3 / 20774314
lung1 / 3369742
lymph0 / 442700 
lymph node4 / 9161043
mammary gland7 / 15327145
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary4 / 10205139
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis6 / 33044218
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219650_at
Cell line Expression level Expression bar
721_B_lymphoblasts14
Adipocyte8.55
AdrenalCortex11.15
Adrenalgland7.75
Amygdala8.95
Appendix10.4
AtrioventricularNode7.6
BDCA4+_DentriticCells8
Bonemarrow9.65
BronchialEpithelialCells8.5
CD105+_Endothelial13.85
CD14+_Monocytes9.25
CD19+_BCells(neg._sel.)9.05
CD33+_Myeloid10.5
CD34+11.75
CD4+_Tcells8.55
CD56+_NKCells9.45
CD71+_EarlyErythroid9.2
CD8+_Tcells8
CardiacMyocytes16.1
Caudatenucleus7.85
Cerebellum7.2
CerebellumPeduncles10.45
CiliaryGanglion8.5
CingulateCortex9.2
Colorectaladenocarcinoma10.25
DorsalRootGanglion7.5
FetalThyroid8.85
Fetalbrain8.5
Fetalliver8.25
Fetallung6.55
GlobusPallidus6.9
Heart12.6
Hypothalamus9.25
Kidney8.5
Leukemia_chronicMyelogenousK-56212.4
Leukemia_promyelocytic-HL-608.2
Leukemialymphoblastic(MOLT-4)13.25
Liver16
Lung9.55
Lymphnode7.25
Lymphoma_burkitts(Daudi)15.1
Lymphoma_burkitts(Raji)13.3
MedullaOblongata7.85
OccipitalLobe7.65
OlfactoryBulb6.8
Ovary6.6
Pancreas8.2
PancreaticIslet9.35
ParietalLobe9.7
Pituitary10.15
Placenta8.75
Pons8.8
PrefrontalCortex10.3
Prostate10
Salivarygland7.3
SkeletalMuscle13.15
Skin9.25
SmoothMuscle10.2
Spinalcord9.3
SubthalamicNucleus8.25
SuperiorCervicalGanglion13.7
TemporalLobe8.2
Testis7.5
TestisGermCell6.9
TestisIntersitial7.75
TestisLeydigCell9.1
TestisSeminiferousTubule7.6
Thalamus9.2
Thymus6.65
Thyroid10.65
Tongue11.05
Tonsil8.7
Trachea7.3
TrigeminalGanglion9.85
Uterus6.85
UterusCorpus10.5
WholeBlood9.25
Wholebrain7.05
colon8.85
pineal_day10.14
pineal_night9.98
retina10.4
small_intestine8.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8353_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
Amygdala2.07 ± 0.96
Basal Forebrain1.58 ± 0.2
Basal Part of Pons1.33 ± 0.36
Cerebellar Cortex1.51 ± 0.74
Cerebellar Nuclei1.92 ± 0.76
Claustrum2.53 ± 0.82
Epithalamus1.38 ± 0.6
Frontal Lobe1.5 ± 0.73
Globus Pallidus2.29 ± 0.41
Hypothalamus1.76 ± 0.5
Insula1.5 ± 0.53
Limbic Lobe1.65 ± 0.63
Mesencephalon1.81 ± 0.72
Myelencephalon1.69 ± 0.64
Occipital Lobe1.67 ± 0.51
Parietal Lobe1.66 ± 0.64
Pontine Tegmentum1.65 ± 0.61
Striatum1.76 ± 0.47
Subthalamus1.78 ± 0.59
Temporal Lobe1.5 ± 0.57
Thalamus1.55 ± 0.6
White Matter2.06 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ercc6lCBCerebellum0.6
0.89
Ercc6lCTXCerebral cortex0.44
0.4
Ercc6lHIPHippocampal region0.91
0.8
Ercc6lHPFHippocampal formation0.94
0.88
Ercc6lHYHypothalamus0.03
0.03
Ercc6lLSXLateral septal complex0.04
0
Ercc6lMBMidbrain0.27
0.51
Ercc6lMYMedulla0.57
0.84
Ercc6lOLFOlfactory bulb1.53
1.34
Ercc6lPPons0.23
0.35
Ercc6lPALPallidum0.08
0.11
Ercc6lRHPRetrohippocampal region1
1.02
Ercc6lsAMYStriatum-like amygdalar nuclei0.44
0.27
Ercc6lSTRStriatum0.3
0.24
Ercc6lSTRdStriatum dorsal region0.18
0.13
Ercc6lSTRvStriatum ventral region0.87
0.84
Ercc6lTHThalamus0.22
0.2
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00075595 15 349 363 NPDVDAICEMPSLSR 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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