AutismKB 2.0

Annotation Detail for XRCC6


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Basic Information Top
Gene Symbol:XRCC6 ( CTC75,CTCBF,G22P1,KU70,ML8,TLAA )
Gene Full Name: X-ray repair complementing defective repair in Chinese hamster cells 6
Band: 22q13.2
Quick LinksEntrez ID:2547; OMIM: 152690; Uniprot ID:XRCC6_HUMAN; ENSEMBL ID: ENSG00000196419; HGNC ID: 4055
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 body27 / 70761381
blastocyst44 / 62319706
fetus315 / 564012558
neonate64 / 310972058
infant41 / 236201735
juvenile177 / 555563185
adult990 / 1939121510
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor78 / 94178828
cervical tumor44 / 343661280
chondrosarcoma24 / 82823289
colorectal tumor60 / 114246525
esophageal tumor52 / 172903007
gastrointestinal tumor77 / 119369645
germ cell tumor360 / 2638451364
glioma141 / 1068831319
head and neck tumor36 / 136302264
kidney tumor53 / 68959768
leukemia100 / 958421043
liver tumor129 / 963591338
lung tumor69 / 103127669
lymphoma46 / 71755641
non-neoplasia70 / 97250719
normal2220 / 3360307660
ovarian tumor35 / 76682456
pancreatic tumor32 / 104616305
primitive neuroectodermal tumor of the CNS255 / 1256802028
prostate cancer45 / 102680438
retinoblastoma54 / 463561164
skin tumor309 / 1249492473
soft tissue/muscle tissue tumor66 / 125191527
uterine tumor55 / 90257609
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland50 / 331971506
ascites40 / 40015999
bladder25 / 29757840
blood128 / 1234781036
bone23 / 71655320
bone marrow65 / 488011331
brain953 / 1100989865
cervix51 / 481711058
connective tissue101 / 149255676
ear4 / 16212246
embryonic tissue124 / 215722574
esophagus54 / 202092672
eye96 / 211054454
heart55 / 89626613
intestine156 / 234472665
kidney174 / 211777821
larynx3 / 24145124
liver148 / 207743712
lung170 / 336974504
lymph25 / 44270564
lymph node15 / 91610163
mammary gland91 / 153271593
mouth15 / 67052223
muscle75 / 107715696
nerve5 / 15768317
ovary49 / 102051480
pancreas54 / 214812251
parathyroid3 / 20539146
pharynx28 / 41328677
pituitary gland2 / 16585120
placenta246 / 280825875
prostate96 / 189345507
salivary gland3 / 20155148
skin370 / 2105741757
spleen55 / 539521019
stomach39 / 96619403
testis432 / 3304421307
thymus117 / 811311442
thyroid27 / 47473568
tonsil10 / 16999588
trachea27 / 52413515
umbilical cord22 / 136801608
uterus160 / 232878687
vascular117 / 517802259
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200792_at
Cell line Expression level Expression bar
721_B_lymphoblasts2419.25
Adipocyte485.3
AdrenalCortex538.1
Adrenalgland343.6
Amygdala435.4
Appendix205.15
AtrioventricularNode127.05
BDCA4+_DentriticCells1172.55
Bonemarrow301.85
BronchialEpithelialCells1217.85
CD105+_Endothelial1332.3
CD14+_Monocytes876.3
CD19+_BCells(neg._sel.)1184.45
CD33+_Myeloid958.4
CD34+1533.6
CD4+_Tcells922.5
CD56+_NKCells1169.25
CD71+_EarlyErythroid708.85
CD8+_Tcells726.2
CardiacMyocytes697.35
Caudatenucleus362.55
Cerebellum330.9
CerebellumPeduncles366.85
CiliaryGanglion87.3
CingulateCortex331.8
Colorectaladenocarcinoma1301.6
DorsalRootGanglion227.2
FetalThyroid686.5
Fetalbrain422.9
Fetalliver261.1
Fetallung505
GlobusPallidus204.35
Heart696.2
Hypothalamus595.5
Kidney215.7
Leukemia_chronicMyelogenousK-562427.5
Leukemia_promyelocytic-HL-60785.95
Leukemialymphoblastic(MOLT-4)995.05
Liver865
Lung845.45
Lymphnode385.7
Lymphoma_burkitts(Daudi)1268.75
Lymphoma_burkitts(Raji)1052.85
MedullaOblongata317.25
OccipitalLobe378.95
OlfactoryBulb280.45
Ovary279.5
Pancreas217
PancreaticIslet651.6
ParietalLobe401.45
Pituitary596.55
Placenta791.35
Pons295.75
PrefrontalCortex568.65
Prostate1028.05
Salivarygland189.7
SkeletalMuscle222.55
Skin229.8
SmoothMuscle862.2
Spinalcord336.9
SubthalamicNucleus303.45
SuperiorCervicalGanglion158.35
TemporalLobe321.55
Testis1552.9
TestisGermCell1285.3
TestisIntersitial1169
TestisLeydigCell1169.65
TestisSeminiferousTubule1231.8
Thalamus406.75
Thymus980.25
Thyroid906.2
Tongue398.2
Tonsil525.7
Trachea230.8
TrigeminalGanglion144.25
Uterus832.05
UterusCorpus303.55
WholeBlood613.7
Wholebrain871.1
colon493.75
pineal_day1067.52
pineal_night907.74
retina471.925
small_intestine568.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P120947
  • 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
Amygdala7.4 ± 0.58
Basal Forebrain7.69 ± 0.23
Basal Part of Pons8.16 ± 0.46
Cerebellar Cortex8.09 ± 0.41
Cerebellar Nuclei7.73 ± 0.51
Claustrum7.35 ± 0.74
Epithalamus7.87 ± 0.5
Frontal Lobe7.98 ± 0.43
Globus Pallidus7.21 ± 0.29
Hypothalamus8.33 ± 0.3
Insula8.08 ± 0.37
Limbic Lobe7.48 ± 0.61
Mesencephalon7.72 ± 0.44
Myelencephalon7.68 ± 0.6
Occipital Lobe7.11 ± 0.56
Parietal Lobe7.66 ± 0.51
Pontine Tegmentum7.77 ± 0.49
Striatum7.08 ± 0.45
Subthalamus7.77 ± 0.41
Temporal Lobe7.94 ± 0.48
Thalamus7.77 ± 0.39
White Matter7.7 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Xrcc6CBCerebellum12.47
13.55
Xrcc6CTXCerebral cortex22.46
16.47
Xrcc6HIPHippocampal region25.04
25.88
Xrcc6HPFHippocampal formation29.06
27.24
Xrcc6HYHypothalamus4.76
3.36
Xrcc6LSXLateral septal complex0.21
0.29
Xrcc6MBMidbrain3.19
2.97
Xrcc6MYMedulla8.28
9.35
Xrcc6OLFOlfactory bulb25.4
19.47
Xrcc6PPons8.73
9.46
Xrcc6PALPallidum4.2
3.74
Xrcc6RHPRetrohippocampal region42.9
33.3
Xrcc6sAMYStriatum-like amygdalar nuclei21.98
16.24
Xrcc6STRStriatum9.55
6.94
Xrcc6STRdStriatum dorsal region9.08
6.64
Xrcc6STRvStriatum ventral region8.91
5.77
Xrcc6THThalamus7.72
5.92
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
B2RDN9_HUMAN_100 14 100 113 NIYVLQELDNPGAK PRIDE
B2RDN9_HUMAN_100 15 100 114 NIYVLQELDNPGAKR PRIDE
B2RDN9_HUMAN_115 14 115 128 ILELDQFKGQQGQK PRIDE
B2RDN9_HUMAN_115 15 115 129 ILELDQFKGQQGQKR PRIDE
B2RDN9_HUMAN_115 8 115 122 ILELDQFK PRIDE
B2RDN9_HUMAN_165 17 165 181 IMLFTNEDNPHGNDSAK PRIDE
B2RDN9_HUMAN_194 12 194 205 DTGIFLDLMHLK PRIDE
B2RDN9_HUMAN_206 12 206 217 KPGGFDISLFYR PRIDE
B2RDN9_HUMAN_207 11 207 217 PGGFDISLFYR PRIDE
B2RDN9_HUMAN_218 12 218 229 DIISIAEDEDLR PRIDE
B2RDN9_HUMAN_301 16 301 316 TFNTSTGGLLLPSDTK PRIDE
B2RDN9_HUMAN_301 17 301 317 TFNTSTGGLLLPSDTKR PRIDE
B2RDN9_HUMAN_325 14 325 338 QIILEKEETEELKR PRIDE
B2RDN9_HUMAN_338 19 338 356 RFDDPGLMLMGFKPLVLLK PRIDE
B2RDN9_HUMAN_339 18 339 356 FDDPGLMLMGFKPLVLLK PRIDE
B2RDN9_HUMAN_339 19 339 357 FDDPGLMLMGFKPLVLLKK PRIDE
B2RDN9_HUMAN_35 11 35 45 DSLIFLVDASK PRIDE
B2RDN9_HUMAN_388 11 388 398 CLEKEVAALCR PRIDE
B2RDN9_HUMAN_424 19 424 442 IQVTPPGFQLVFLPFADDK PRIDE
B2RDN9_HUMAN_424 20 424 443 IQVTPPGFQLVFLPFADDKR PRIDE
B2RDN9_HUMAN_451 10 451 460 IMATPEQVGK PRIDE
B2RDN9_HUMAN_474 14 474 487 SDSFENPVLQQHFR PRIDE
B2RDN9_HUMAN_488 22 488 509 NLEALALDLMEPEQAVDLTLPK PRIDE
B2RDN9_HUMAN_488 29 488 516 NLEALALDLMEPEQAVDLTLPKVEAMNKR PRIDE
B2RDN9_HUMAN_517 22 517 538 LGSLVDEFKELVYPPDYNPEGK PRIDE
B2RDN9_HUMAN_517 9 517 525 LGSLVDEFK PRIDE
B2RDN9_HUMAN_526 13 526 538 ELVYPPDYNPEGK PRIDE
B2RDN9_HUMAN_556 14 556 569 VEYSEEELKTHISK PRIDE
B2RDN9_HUMAN_556 9 556 564 VEYSEEELK PRIDE
B2RDN9_HUMAN_596 9 596 604 QELLEALTK PRIDE
PAp00000586 28 47 74 AMFESQSEDELTPFDMSIQCIQSVYISK 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