AutismKB 2.0

Annotation Detail for XRCC1


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Basic Information Top
Gene Symbol:XRCC1 ( RCC )
Gene Full Name: X-ray repair complementing defective repair in Chinese hamster cells 1
Band: 19q13.2
Quick LinksEntrez ID:7515; OMIM: 194360; Uniprot ID:XRCC1_HUMAN; ENSEMBL ID: ENSG00000073050; HGNC ID: 12828
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 body4 / 7076156
blastocyst2 / 6231932
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult53 / 193912127
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor2 / 9635920
lung tumor10 / 10312796
lymphoma18 / 71755250
non-neoplasia1 / 9725010
normal88 / 336030726
ovarian tumor5 / 7668265
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS18 / 125680143
prostate cancer3 / 10268029
retinoblastoma13 / 46356280
skin tumor14 / 124949112
soft tissue/muscle tissue tumor9 / 12519171
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 
bladder1 / 2975733
blood6 / 12347848
bone2 / 7165527
bone marrow3 / 4880161
brain32 / 110098929
cervix4 / 4817183
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye22 / 211054104
heart1 / 8962611
intestine9 / 23447238
kidney3 / 21177714
larynx0 / 241450 
liver2 / 2077439
lung16 / 33697447
lymph8 / 44270180
lymph node4 / 9161043
mammary gland6 / 15327139
mouth0 / 670520 
muscle5 / 10771546
nerve1 / 1576863
ovary5 / 10205148
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate3 / 18934515
salivary gland0 / 201550 
skin14 / 21057466
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203655_at
Cell line Expression level Expression bar
721_B_lymphoblasts105.85
Adipocyte37.9
AdrenalCortex41.45
Adrenalgland35.1
Amygdala27.6
Appendix21.55
AtrioventricularNode30.55
BDCA4+_DentriticCells49.1
Bonemarrow37.2
BronchialEpithelialCells25.7
CD105+_Endothelial45.85
CD14+_Monocytes48.9
CD19+_BCells(neg._sel.)55.15
CD33+_Myeloid40.65
CD34+75.05
CD4+_Tcells47.85
CD56+_NKCells71.65
CD71+_EarlyErythroid42.7
CD8+_Tcells47.85
CardiacMyocytes28
Caudatenucleus41.25
Cerebellum32.05
CerebellumPeduncles62.3
CiliaryGanglion26.45
CingulateCortex42.45
Colorectaladenocarcinoma59.1
DorsalRootGanglion30.55
FetalThyroid52
Fetalbrain42.05
Fetalliver25.4
Fetallung27.85
GlobusPallidus30.8
Heart36.9
Hypothalamus55.05
Kidney32.4
Leukemia_chronicMyelogenousK-56242.2
Leukemia_promyelocytic-HL-6032.05
Leukemialymphoblastic(MOLT-4)86.25
Liver32.9
Lung43.1
Lymphnode34.65
Lymphoma_burkitts(Daudi)53.55
Lymphoma_burkitts(Raji)45.7
MedullaOblongata36.55
OccipitalLobe38.15
OlfactoryBulb31.6
Ovary26.35
Pancreas45.45
PancreaticIslet52
ParietalLobe42.1
Pituitary80.75
Placenta42.6
Pons38.85
PrefrontalCortex48.05
Prostate37.2
Salivarygland31.35
SkeletalMuscle51.55
Skin31.8
SmoothMuscle45.5
Spinalcord42.25
SubthalamicNucleus39.2
SuperiorCervicalGanglion22.15
TemporalLobe36.15
Testis34.4
TestisGermCell35.6
TestisIntersitial25.05
TestisLeydigCell40.2
TestisSeminiferousTubule58.3
Thalamus56.55
Thymus31.7
Thyroid37.6
Tongue39.1
Tonsil52.65
Trachea33.05
TrigeminalGanglion38.85
Uterus29.15
UterusCorpus35.45
WholeBlood40.35
Wholebrain18.45
colon40.15
pineal_day59.06
pineal_night71.5
retina48.2
small_intestine30.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16426_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
Amygdala4.79 ± 0.64
Basal Forebrain4.68 ± 0.5
Basal Part of Pons5.19 ± 0.31
Cerebellar Cortex5.33 ± 0.42
Cerebellar Nuclei4.69 ± 0.31
Claustrum5.17 ± 0.72
Epithalamus5.13 ± 0.42
Frontal Lobe4.98 ± 0.53
Globus Pallidus4.76 ± 0.32
Hypothalamus5.15 ± 0.52
Insula4.98 ± 0.3
Limbic Lobe4.83 ± 0.52
Mesencephalon4.93 ± 0.53
Myelencephalon4.97 ± 0.47
Occipital Lobe4.76 ± 0.53
Parietal Lobe4.97 ± 0.47
Pontine Tegmentum4.88 ± 0.55
Striatum4.7 ± 0.37
Subthalamus4.28 ± 0.53
Temporal Lobe5.03 ± 0.45
Thalamus5.04 ± 0.42
White Matter5.21 ± 0.38
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001807 14 356 369 DSTHLICAFANTPK 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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