AutismKB 2.0

Annotation Detail for XRCC5


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Basic Information Top
Gene Symbol:XRCC5 ( FLJ39089,KARP-1,KARP1,KU80,KUB2,Ku86,NFIV )
Gene Full Name: X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
Band: 2q35
Quick LinksEntrez ID:7520; OMIM: 194364; Uniprot ID:XRCC5_HUMAN; ENSEMBL ID: ENSG00000079246; HGNC ID: 12833
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 body30 / 70761423
blastocyst46 / 62319738
fetus265 / 564012469
neonate28 / 31097900
infant10 / 23620423
juvenile38 / 55556683
adult664 / 1939121342
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor6 / 12794468
bladder carcinoma6 / 17475343
breast (mammary gland) tumor29 / 94178307
cervical tumor19 / 34366552
chondrosarcoma38 / 82823458
colorectal tumor25 / 114246218
esophageal tumor7 / 17290404
gastrointestinal tumor32 / 119369268
germ cell tumor285 / 2638451080
glioma25 / 106883233
head and neck tumor41 / 136302300
kidney tumor17 / 68959246
leukemia29 / 95842302
liver tumor47 / 96359487
lung tumor29 / 103127281
lymphoma13 / 71755181
non-neoplasia16 / 97250164
normal1254 / 3360307373
ovarian tumor28 / 76682365
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS55 / 125680437
prostate cancer37 / 102680360
retinoblastoma28 / 46356604
skin tumor61 / 124949488
soft tissue/muscle tissue tumor61 / 125191487
uterine tumor23 / 90257254
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland8 / 33197240
ascites16 / 40015399
bladder17 / 29757571
blood58 / 123478469
bone31 / 71655432
bone marrow20 / 48801409
brain455 / 1100989413
cervix23 / 48171477
connective tissue51 / 149255341
ear3 / 16212185
embryonic tissue137 / 215722635
esophagus7 / 20209346
eye61 / 211054289
heart29 / 89626323
intestine51 / 234472217
kidney65 / 211777306
larynx2 / 2414582
liver95 / 207743457
lung70 / 336974207
lymph6 / 44270135
lymph node19 / 91610207
mammary gland50 / 153271326
mouth32 / 67052477
muscle26 / 107715241
nerve5 / 15768317
ovary31 / 102051303
pancreas27 / 214812125
parathyroid11 / 20539535
pharynx21 / 41328508
pituitary gland7 / 16585422
placenta82 / 280825291
prostate52 / 189345274
salivary gland1 / 2015549
skin96 / 210574455
spleen39 / 53952722
stomach25 / 96619258
testis267 / 330442808
thymus34 / 81131419
thyroid20 / 47473421
tonsil3 / 16999176
trachea43 / 52413820
umbilical cord8 / 13680584
uterus85 / 232878364
vascular24 / 51780463
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208642_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts2210.1
Adipocyte280.55
AdrenalCortex132.75
Adrenalgland90
Amygdala146.95
Appendix20.4
AtrioventricularNode16.75
BDCA4+_DentriticCells905
Bonemarrow238.35
BronchialEpithelialCells995.5
CD105+_Endothelial779.25
CD14+_Monocytes654.7
CD19+_BCells(neg._sel.)490.4
CD33+_Myeloid567.25
CD34+756.4
CD4+_Tcells905.95
CD56+_NKCells743.25
CD71+_EarlyErythroid640.65
CD8+_Tcells951.95
CardiacMyocytes569.55
Caudatenucleus102.3
Cerebellum21.9
CerebellumPeduncles71.85
CiliaryGanglion59.1
CingulateCortex83.95
Colorectaladenocarcinoma325.3
DorsalRootGanglion57.3
FetalThyroid296.1
Fetalbrain222.85
Fetalliver285.1
Fetallung342.95
GlobusPallidus59.05
Heart12.5
Hypothalamus230.6
Kidney67.85
Leukemia_chronicMyelogenousK-562616.85
Leukemia_promyelocytic-HL-60439.7
Leukemialymphoblastic(MOLT-4)857.95
Liver101.15
Lung45.45
Lymphnode235.5
Lymphoma_burkitts(Daudi)995.1
Lymphoma_burkitts(Raji)175.95
MedullaOblongata68.85
OccipitalLobe183.4
OlfactoryBulb137.35
Ovary167.05
Pancreas219.85
PancreaticIslet403.4
ParietalLobe104.5
Pituitary284.35
Placenta212.85
Pons66.85
PrefrontalCortex208.25
Prostate132.1
Salivarygland191.6
SkeletalMuscle37.45
Skin62.2
SmoothMuscle855.6
Spinalcord153.4
SubthalamicNucleus111
SuperiorCervicalGanglion34.3
TemporalLobe61.55
Testis125.4
TestisGermCell320.7
TestisIntersitial323.7
TestisLeydigCell266
TestisSeminiferousTubule280.7
Thalamus170.9
Thymus348.1
Thyroid321.65
Tongue187.2
Tonsil375.7
Trachea136.7
TrigeminalGanglion18.25
Uterus143.35
UterusCorpus159.75
WholeBlood640.35
Wholebrain47
colon253
pineal_day320.5
pineal_night278.54
retina165.4
small_intestine242.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P221832
  • 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
Amygdala4.54 ± 0.38
Basal Forebrain4.57 ± 0.47
Basal Part of Pons4.83 ± 0.37
Cerebellar Cortex4.41 ± 0.49
Cerebellar Nuclei4.46 ± 0.55
Claustrum4.41 ± 0.7
Epithalamus4.49 ± 0.38
Frontal Lobe4.43 ± 0.47
Globus Pallidus4.57 ± 0.29
Hypothalamus4.47 ± 0.5
Insula4.27 ± 0.41
Limbic Lobe4.68 ± 0.42
Mesencephalon4.54 ± 0.56
Myelencephalon4.54 ± 0.47
Occipital Lobe5.05 ± 0.47
Parietal Lobe4.53 ± 0.51
Pontine Tegmentum4.53 ± 0.51
Striatum4.71 ± 0.49
Subthalamus4.39 ± 0.32
Temporal Lobe4.46 ± 0.42
Thalamus4.61 ± 0.43
White Matter4.71 ± 0.72
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000980 9 339 347 CFSVLGFCK Peptide Atlas
Q53TC2_HUMAN_130 11 130 140 HIEIFTDLSSR PRIDE
Q53TC2_HUMAN_184 11 184 194 LGGHGPSFPLK PRIDE
Q53TC2_HUMAN_250 10 250 259 LTIGSNLSIR PRIDE
Q53TC2_HUMAN_315 17 315 331 YGSDIVPFSKVDEEQMK PRIDE
Q53TC2_HUMAN_325 7 325 331 VDEEQMK PRIDE
Q53TC2_HUMAN_35 9 35 43 KVITMFVQR PRIDE
Q53TC2_HUMAN_354 9 354 362 FFMGNQVLK PRIDE
Q53TC2_HUMAN_36 8 36 43 VITMFVQR PRIDE
Q53TC2_HUMAN_363 31 363 393 VFAARDDEAAAVALSSLIHALDDLDMVAIVR PRIDE
Q53TC2_HUMAN_368 26 368 393 DDEAAAVALSSLIHALDDLDMVAIVR PRIDE
Q53TC2_HUMAN_400 13 400 412 ANPQVGVAFPHIK PRIDE
Q53TC2_HUMAN_402 9 402 410 PQVGVAFPH PRIDE
Q53TC2_HUMAN_413 18 413 430 HNYECLVYVQLPFMEDLR PRIDE
Q53TC2_HUMAN_442 23 442 464 KYAPTEAQLNAVDALIDSMSLAK PRIDE
Q53TC2_HUMAN_443 22 443 464 YAPTEAQLNAVDALIDSMSLAK PRIDE
Q53TC2_HUMAN_469 12 469 480 TDTLEDLFPTTK PRIDE
Q53TC2_HUMAN_502 23 502 524 EPLPPIQQHIWNMLNPPAEVTTK PRIDE
Q53TC2_HUMAN_543 22 543 564 KKDQVTAQEIFQDNHEDGPTAK PRIDE
Q53TC2_HUMAN_605 29 605 633 KASFEEASNQLINHIEQFLDTNETPYFMK PRIDE
Q53TC2_HUMAN_640 14 640 653 AFREEAIKFSEEQR PRIDE
Q53TC2_HUMAN_660 9 660 668 ALQEKVEIK PRIDE
Q53TC2_HUMAN_669 19 669 687 QLNHFWEIVVQDGITLITK PRIDE
Q53TC2_HUMAN_669 34 669 702 QLNHFWEIVVQDGITLITKEEASGSSVTAEEAKK PRIDE
Q53TC2_HUMAN_81 16 81 96 HLMLPDFDLLEDIESK PRIDE
Q53TC2_HUMAN_97 28 97 124 IQPGSQQADFLDALIVSMDVIQHETIGK PRIDE
Q53TC2_HUMAN_97 29 97 125 IQPGSQQADFLDALIVSMDVIQHETIGKK 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


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