AutismKB 2.0

Annotation Detail for XRCC4


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Basic Information Top
Gene Symbol:XRCC4 ( - )
Gene Full Name: X-ray repair complementing defective repair in Chinese hamster cells 4
Band: 5q14.2
Quick LinksEntrez ID:7518; OMIM: 194363; Uniprot ID:XRCC4_HUMAN; ENSEMBL ID: ENSG00000152422; HGNC ID: 12831
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
fetus6 / 56401210
neonate0 / 310970 
infant4 / 23620169
juvenile0 / 555560 
adult64 / 193912133
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor5 / 26384518
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia15 / 95842156
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal46 / 336030713
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer3 / 10268029
retinoblastoma12 / 46356258
skin tumor4 / 12494932
soft tissue/muscle tissue tumor40 / 125191319
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood11 / 12347889
bone0 / 716550 
bone marrow6 / 48801122
brain12 / 110098910
cervix0 / 481710 
connective tissue39 / 149255261
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye13 / 21105461
heart0 / 896260 
intestine1 / 2344724
kidney3 / 21177714
larynx0 / 241450 
liver3 / 20774314
lung0 / 3369740 
lymph0 / 442700 
lymph node2 / 9161021
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate3 / 18934515
salivary gland1 / 2015549
skin4 / 21057418
spleen0 / 539520 
stomach2 / 9661920
testis13 / 33044239
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210813_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts18.1
Adipocyte6.95
AdrenalCortex8.85
Adrenalgland6.3
Amygdala7.1
Appendix11.4
AtrioventricularNode6.7
BDCA4+_DentriticCells11.4
Bonemarrow7.8
BronchialEpithelialCells7.1
CD105+_Endothelial7.6
CD14+_Monocytes11.05
CD19+_BCells(neg._sel.)7.45
CD33+_Myeloid8.55
CD34+10.65
CD4+_Tcells7.6
CD56+_NKCells12
CD71+_EarlyErythroid6.9
CD8+_Tcells6.75
CardiacMyocytes19.1
Caudatenucleus6.35
Cerebellum5.7
CerebellumPeduncles8.7
CiliaryGanglion6.1
CingulateCortex7.4
Colorectaladenocarcinoma7.1
DorsalRootGanglion6.35
FetalThyroid7.2
Fetalbrain6.65
Fetalliver6.15
Fetallung5.25
GlobusPallidus5.85
Heart11.6
Hypothalamus7.1
Kidney6.65
Leukemia_chronicMyelogenousK-5626.45
Leukemia_promyelocytic-HL-608.35
Leukemialymphoblastic(MOLT-4)5.9
Liver10.45
Lung7.4
Lymphnode5.6
Lymphoma_burkitts(Daudi)9.4
Lymphoma_burkitts(Raji)11.1
MedullaOblongata6.25
OccipitalLobe6.3
OlfactoryBulb5.5
Ovary5.3
Pancreas5.85
PancreaticIslet7.75
ParietalLobe8.3
Pituitary8.1
Placenta6.85
Pons7.6
PrefrontalCortex8.3
Prostate7.9
Salivarygland6
SkeletalMuscle11.35
Skin6.45
SmoothMuscle9.95
Spinalcord7.55
SubthalamicNucleus7.95
SuperiorCervicalGanglion14.5
TemporalLobe7.15
Testis5.95
TestisGermCell5.7
TestisIntersitial6.1
TestisLeydigCell7.55
TestisSeminiferousTubule6.65
Thalamus7.35
Thymus5.25
Thyroid8.25
Tongue8.15
Tonsil7.1
Trachea5.85
TrigeminalGanglion8.35
Uterus5.55
UterusCorpus7.35
WholeBlood7.8
Wholebrain5.5
colon7.1
pineal_day8.46
pineal_night8.38
retina8.4
small_intestine6.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16475_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
Amygdala6.5 ± 0.45
Basal Forebrain6.48 ± 0.3
Basal Part of Pons6.15 ± 0.46
Cerebellar Cortex6.13 ± 0.25
Cerebellar Nuclei6.52 ± 0.41
Claustrum6.61 ± 0.41
Epithalamus6.78 ± 0.26
Frontal Lobe6.32 ± 0.36
Globus Pallidus7.14 ± 0.17
Hypothalamus6.3 ± 0.33
Insula6.34 ± 0.31
Limbic Lobe6.37 ± 0.39
Mesencephalon6.44 ± 0.34
Myelencephalon6.34 ± 0.4
Occipital Lobe6.2 ± 0.26
Parietal Lobe6.37 ± 0.36
Pontine Tegmentum6.45 ± 0.34
Striatum6.55 ± 0.3
Subthalamus6.76 ± 0.3
Temporal Lobe6.29 ± 0.32
Thalamus6.34 ± 0.29
White Matter7.38 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Xrcc4CBCerebellum0.39
0.85
Xrcc4CTXCerebral cortex1.58
1.97
Xrcc4HIPHippocampal region1.63
1.54
Xrcc4HPFHippocampal formation1.13
1.09
Xrcc4HYHypothalamus0.41
0.48
Xrcc4LSXLateral septal complex0.29
0.28
Xrcc4MBMidbrain0.31
0.76
Xrcc4MYMedulla0.11
0.2
Xrcc4OLFOlfactory bulb0.92
1.53
Xrcc4PPons0.14
0.41
Xrcc4PALPallidum0.16
0.29
Xrcc4RHPRetrohippocampal region0.17
0.37
Xrcc4sAMYStriatum-like amygdalar nuclei0.22
0.31
Xrcc4STRStriatum0.41
0.32
Xrcc4STRdStriatum dorsal region0.27
0.17
Xrcc4STRvStriatum ventral region0.98
0.69
Xrcc4THThalamus0.35
0.32
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00518507 12 8 19 IHLVSEPSITHF Peptide Atlas
XRCC4_HUMAN_193 13 193 205 SLHNKLLNAAQER 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