AutismKB 2.0

Annotation Detail for ERCC4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ERCC4 ( ERCC11,RAD1,XPF )
Gene Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 4
Band: 16p13.12
Quick LinksEntrez ID:2072; OMIM: 133520; Uniprot ID:XPF_HUMAN; ENSEMBL ID: ENSG00000175595; HGNC ID: 3436
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 body3 / 7076142
blastocyst2 / 6231932
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult23 / 193912111
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal59 / 336030717
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
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
brain14 / 110098912
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver4 / 20774319
lung5 / 33697414
lymph0 / 442700 
lymph node5 / 9161054
mammary gland9 / 15327158
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis21 / 33044263
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210158_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.3
Adipocyte3.35
AdrenalCortex3.55
Adrenalgland2.9
Amygdala3.65
Appendix3.45
AtrioventricularNode2.55
BDCA4+_DentriticCells3.8
Bonemarrow3.35
BronchialEpithelialCells3.35
CD105+_Endothelial3.45
CD14+_Monocytes3.65
CD19+_BCells(neg._sel.)3.65
CD33+_Myeloid4.4
CD34+4.35
CD4+_Tcells3.7
CD56+_NKCells4.1
CD71+_EarlyErythroid3.2
CD8+_Tcells3.3
CardiacMyocytes4.35
Caudatenucleus3.05
Cerebellum2.8
CerebellumPeduncles3.85
CiliaryGanglion2.4
CingulateCortex3.5
Colorectaladenocarcinoma3.4
DorsalRootGanglion2.6
FetalThyroid3.3
Fetalbrain3.4
Fetalliver3.1
Fetallung2.9
GlobusPallidus2.5
Heart4.3
Hypothalamus3.7
Kidney2.8
Leukemia_chronicMyelogenousK-5623.05
Leukemia_promyelocytic-HL-603
Leukemialymphoblastic(MOLT-4)2.75
Liver4.45
Lung3.8
Lymphnode2.95
Lymphoma_burkitts(Daudi)4.35
Lymphoma_burkitts(Raji)4.7
MedullaOblongata3.25
OccipitalLobe3.1
OlfactoryBulb2.7
Ovary2.25
Pancreas2.75
PancreaticIslet3.65
ParietalLobe3.55
Pituitary4
Placenta3.6
Pons3.25
PrefrontalCortex4.25
Prostate4
Salivarygland2.75
SkeletalMuscle3.85
Skin2.6
SmoothMuscle3.9
Spinalcord3.65
SubthalamicNucleus3.1
SuperiorCervicalGanglion3.8
TemporalLobe3.1
Testis3.45
TestisGermCell2.9
TestisIntersitial2.9
TestisLeydigCell3.85
TestisSeminiferousTubule2.95
Thalamus3.45
Thymus2.7
Thyroid4.25
Tongue3.3
Tonsil3.35
Trachea2.85
TrigeminalGanglion3.3
Uterus2.8
UterusCorpus3.05
WholeBlood3.75
Wholebrain2.95
colon3.4
pineal_day4.26
pineal_night4.2
retina4.1
small_intestine3.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P157481
  • 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
Amygdala4.29 ± 0.79
Basal Forebrain4.08 ± 0.54
Basal Part of Pons4.43 ± 0.41
Cerebellar Cortex4.56 ± 0.34
Cerebellar Nuclei4.65 ± 0.3
Claustrum3.8 ± 0.64
Epithalamus4.47 ± 0.73
Frontal Lobe4.33 ± 0.44
Globus Pallidus4.55 ± 0.65
Hypothalamus4.59 ± 0.61
Insula4.24 ± 0.35
Limbic Lobe4.17 ± 0.46
Mesencephalon4.37 ± 0.49
Myelencephalon4.29 ± 0.49
Occipital Lobe4.41 ± 0.42
Parietal Lobe4.41 ± 0.56
Pontine Tegmentum4.4 ± 0.52
Striatum4.34 ± 0.56
Subthalamus4.3 ± 0.32
Temporal Lobe4.17 ± 0.52
Thalamus4.34 ± 0.47
White Matter5.03 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ercc4CBCerebellum15.76
18.79
Ercc4CTXCerebral cortex26.29
19.26
Ercc4HIPHippocampal region25.6
26.67
Ercc4HPFHippocampal formation28.88
27.97
Ercc4HYHypothalamus14.37
11.38
Ercc4LSXLateral septal complex4.13
2.64
Ercc4MBMidbrain9.75
8.92
Ercc4MYMedulla19.31
20.37
Ercc4OLFOlfactory bulb31.01
24.38
Ercc4PPons16.34
15.96
Ercc4PALPallidum13.08
11.29
Ercc4RHPRetrohippocampal region35.91
30.9
Ercc4sAMYStriatum-like amygdalar nuclei12.19
8.23
Ercc4STRStriatum13.23
9.26
Ercc4STRdStriatum dorsal region11.25
8.1
Ercc4STRvStriatum ventral region25.52
16.06
Ercc4THThalamus19.47
15.29
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024409 23 242 264 CHNPSLEVEDLSLENAIGKPFDK 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