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
Post Translation Modification Top
Location(AA) Modification
198Phosphothreonine.
199Phosphoserine.
211Phosphotyrosine.
226Phosphoserine.
241Phosphoserine.
257Phosphothreonine.
259Phosphoserine.
266Phosphoserine.
371Phosphoserine; by PRKDC.
408Phosphoserine.
409Phosphoserine.
410Phosphoserine.
416Phosphoserine.
418Phosphoserine.
421Phosphoserine.
446Phosphoserine.
447Phosphoserine.
453Phosphothreonine.
457Phosphothreonine.
461Phosphoserine.
485Phosphoserine.
488Phosphothreonine.
Location(AA) Modifications Resource
268PhosphoserinePhospho.ELM 6.0
371Phosphoserine (by PRKDC).Swiss-Prot 53.0
408Phosphoserine.Swiss-Prot 53.0
408PhosphoserinePhospho.ELM 6.0
409PhosphoserinePhospho.ELM 6.0
409Phosphoserine.Swiss-Prot 53.0
410Phosphoserine.Swiss-Prot 53.0
410PhosphoserinePhospho.ELM 6.0
416Phosphoserine.Swiss-Prot 53.0
416PhosphoserinePhospho.ELM 6.0
418Phosphoserine.Swiss-Prot 53.0
418PhosphoserinePhospho.ELM 6.0
421PhosphoserinePhospho.ELM 6.0
421Phosphoserine.Swiss-Prot 53.0
447Phosphoserine (By similarity).Swiss-Prot 53.0
453PhosphothreoninePhospho.ELM 6.0
453Phosphothreonine (By similarity).Swiss-Prot 53.0
475Phosphoserine (CK2 alpha)Phospho.ELM 6.0
485Phosphoserine (CK2 alpha)Phospho.ELM 6.0
488Phosphothreonine (CK2 alpha)Phospho.ELM 6.0
518Phosphoserine (CK2 alpha)Phospho.ELM 6.0
519Phosphothreonine (CK2 alpha)Phospho.ELM 6.0
523Phosphothreonine (CK2 alpha)Phospho.ELM 6.0
525Phosphoserine (CK2 alpha)Phospho.ELM 6.0
Location(AA) Modification Resource
14Phosphoserine(CK1)HMM predict
84Phosphotyrosine(EGFR)HMM predict
84Phosphotyrosine(Syk)HMM predict
95Phosphoserine(CDC2)HMM predict
95Phosphoserine(IKK)HMM predict
101Phosphoserine(IKK)HMM predict
101Phosphoserine(CK1)HMM predict
103Phosphoserine(IKK)HMM predict
133Phosphoserine(ATM)HMM predict
137Phosphoserine(IKK)HMM predict
140Phosphoserine(CDC2)HMM predict
162Phosphoserine(ATM)HMM predict
196N-linkedHMM predict
204O-linkedHMM predict
219O-linkedHMM predict
220O-linkedHMM predict
223Phosphoserine(IKK)HMM predict
224O-linkedHMM predict
226Phosphoserine(MAPK)HMM predict
226Phosphoserine(CDC2)HMM predict
229O-linkedHMM predict
259Phosphoserine(PKA)HMM predict
281O-linkedHMM predict
408Phosphoserine(CK2)HMM predict
409Phosphoserine(CK2)HMM predict
410PhosphoserineHMM predict
410Phosphoserine(CK2)HMM predict
416Phosphoserine(CK1)HMM predict
418Phosphoserine(ATM)HMM predict
440O-linkedHMM predict
440Phosphothreonine(PKA)HMM predict
440O-linkedHMM predict
447Phosphoserine(CDC2)HMM predict
447Phosphoserine(CDK)HMM predict
447Phosphoserine(ATM)HMM predict
453Phosphothreonine(MAPK)HMM predict
453Phosphothreonine(CDK)HMM predict
488Phosphothreonine(CK2)HMM predict
523Phosphothreonine(CK2)HMM predict
525Phosphoserine(CK1)HMM predict
576Phosphotyrosine(INSR)HMM predict
615CysteineHMM predict
615S-farnesylHMM predict
620LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006297
  • Location:chr19 48739303-48771554
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
E2F4 G0GSE7516 48771295 48771842 547 14
Rb QuiescentGSE19898 48771277 48771879 602 24
Rb SenescentGSE19898 48771406 48771889 483 93
Rb shRbSenescenceGSE19898 48771523 48771814 291 114
p130 QuiescentGSE19898 48771397 48771847 450 68
p130 SenescentGSE19898 48771210 48771943 733 22
p63 keratinocytesGSE17611 48772146 48773153 1007 1095
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 48758062 48760571 2509 0
CTCF CD4GSE12889 48751198 48751510 312 0
CTCF CD4SISSRdata 48751198 48751510 312 0
CTCF JurkatGSE12889 48751063 48751476 413 0
ETS1 JurkatGSE17954 48770981 48772078 1097 0
FOXA1 MCF7GSE15244 48767792 48768278 486 0
Fos K562GSE19551 48756650 48756974 324 0
FoxA1 MCF7MACSdata 48768123 48768369 246 0
H3ac HepG2E 48770891 48771367 476 0
LIN9 G0GSE7516 48770891 48771842 951 0
LIN9 SGSE7516 48770970 48771842 872 0
P300 T30-glioblastomaGSE21026 48758247 48759255 1008 0
PHF8 293TGSE20725 48771160 48771840 680 0
PHF8 HeLaGSE20725 48771076 48771881 805 0
hScc1 BcellGSE12603 48742975 48743144 169 0
hScc1 BcellGSE12603 48756694 48756955 261 0
p130 shRbQuiescentGSE19898 48771106 48771833 727 0
p130 shRbSenescentGSE19898 48771081 48771896 815 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
13294 EST chr19 48749436 48751478 68 mRNA XRCC1 chr19 48739303 48771555Sense/Antisense (SA) pairs

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