AutismKB 2.0

Annotation Detail for ERCC6


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Basic Information Top
Gene Symbol:ERCC6 ( ARMD5,CKN2,COFS,COFS1,CSB,RAD26 )
Gene Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 6
Band: 10q11.23
Quick LinksEntrez ID:2074; OMIM: 609413; Uniprot ID:ERCC6_HUMAN; ENSEMBL ID: ENSG00000225830; HGNC ID: 3438
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
158Phosphoserine.
170N6-methylated lysine; by EHMT2.
297N6-methylated lysine; by EHMT2.
429Phosphoserine.
430Phosphoserine.
448N6-methylated lysine; by EHMT2.
481Nuclear localization signal (Potential).
486Phosphoserine.
489Phosphoserine.
649DEGH box.
1054N6-methylated lysine; by EHMT2.
1055Nuclear localization signal (Potential).
1142Phosphoserine.
1348Phosphoserine.
1461Phosphoserine.
Location(AA) Modifications Resource
158Phosphoserine.Swiss-Prot 53.0
486Phosphoserine.Swiss-Prot 53.0
486PhosphoserinePhospho.ELM 6.0
489PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
9Phosphoserine(CDK)HMM predict
10Phosphoserine(ATM)HMM predict
24Phosphoserine(IKK)HMM predict
133Phosphotyrosine(EGFR)HMM predict
173Phosphoserine(PKC)HMM predict
173Phosphoserine(PKA)HMM predict
223Phosphoserine(IKK)HMM predict
303Phosphothreonine(MAPK)HMM predict
303Phosphothreonine(CDK)HMM predict
322Phosphoserine(CK1)HMM predict
367Phosphoserine(CK2)HMM predict
374Phosphotyrosine(INSR)HMM predict
374Phosphotyrosine(EGFR)HMM predict
374Phosphotyrosine(SRC)HMM predict
402SulfotyrosineHMM predict
451MethylarginineHMM predict
460PhosphotyrosineHMM predict
460Phosphotyrosine(Jak)HMM predict
460Phosphotyrosine(Syk)HMM predict
461Phosphotyrosine(Jak)HMM predict
461Phosphotyrosine(Syk)HMM predict
461Phosphotyrosine(Jak)HMM predict
486Phosphoserine(CK1)HMM predict
486Phosphoserine(CK2)HMM predict
659Phosphothreonine(PKC)HMM predict
716Phosphotyrosine(INSR)HMM predict
718N-linkedHMM predict
769PhosphothreonineHMM predict
882Phosphotyrosine(Jak)HMM predict
922N-linkedHMM predict
927N-linkedHMM predict
937N-linkedHMM predict
1009Phosphoserine(CDK)HMM predict
1009Phosphoserine(MAPK)HMM predict
1009Phosphoserine(CDC2)HMM predict
1013Phosphoserine(ATM)HMM predict
1018O-linkedHMM predict
1068Phosphoserine(CK2)HMM predict
1068Phosphoserine(CK1)HMM predict
1100N-linkedHMM predict
1104N-linkedHMM predict
1115Phosphoserine(CK2)HMM predict
1121Phosphoserine(CK1)HMM predict
1131N-linkedHMM predict
1133O-linkedHMM predict
1138O-linkedHMM predict
1142Phosphoserine(ATM)HMM predict
1146Phosphoserine(CK2)HMM predict
1161Phosphoserine(IKK)HMM predict
1185Phosphothreonine(PKC)HMM predict
1189Phosphoserine(CK2)HMM predict
1238N-linkedHMM predict
1246Phosphoserine(CK2)HMM predict
1250Phosphotyrosine(INSR)HMM predict
1250SulfotyrosineHMM predict
1279SulfotyrosineHMM predict
1337Phosphoserine(PKA)HMM predict
1337Phosphoserine(PKA)HMM predict
1338N-linkedHMM predict
1345O-linkedHMM predict
1346O-linkedHMM predict
1348Phosphoserine(IKK)HMM predict
1348Phosphoserine(MAPK)HMM predict
1348Phosphoserine(CDC2)HMM predict
1379Phosphoserine(CK1)HMM predict
1379Phosphoserine(IKK)HMM predict
1380O-linkedHMM predict
1381Phosphoserine(CK1)HMM predict
1407Phosphoserine(CK1)HMM predict
1475ThreonineHMM predict
1479PhosphothreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000124
  • Location:chr10 50336714-50417077
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 50417036 50418007 971 444
FoxA1 MCF7MACSdata 50417522 50417692 170 530
H3K4me3 colorectalcancer 50417513 50418007 494 683
H3ac HepG2E 50417659 50418007 348 756
PHF8 HeLaGSE20725 50416467 50417846 1379 79
RARA MCF7GSE15244 50417274 50418007 733 563
RARG MCF7GSE15244 50417304 50418007 703 578
STAT1 HeLaGSE12782 50426028 50430965 4937 11419
STAT1 HeLaGSE12783 50426062 50430831 4769 11369
TFAP2C MCF7GSE21234 50430278 50430588 310 13356
USF1 HepG2E 50417174 50418007 833 513
USF2 HepG2E 50417340 50418007 667 596
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 50323448 50323495 47 13243
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50390376 50390658 282 0
CTCF CD4SISSRdata 50390376 50390658 282 0
GABP k562GSE8489 50414267 50415074 807 0
GABP k562GSE8489 50415440 50415743 303 0
GABP k562GSE8489 50416048 50416857 809 0
Gata2 K562GSE18868 50377375 50377821 446 0
H3K4me3 colorectalcancer 50416048 50416233 185 0
H3ac HepG2E 50416084 50416784 700 0
Myc K562GSE19551 50390319 50390529 210 0
Nanog ESGSE20650 50343647 50344058 411 0
Oct1 H2O2-HelaGSE14283 50341434 50341470 36 0
Oct1 HelaGSE14283 50340532 50340593 61 0
Oct1 HelaGSE14283 50341434 50341476 42 0
RUNX JurkatGSE17954 50386292 50386526 234 0
RUNX JurkatGSE17954 50386540 50386621 81 0
USF1 HepG2E 50416233 50416857 624 0
hScc1 BcellGSE12603 50390225 50390626 401 0
hScc1 BcellGSE12603 50416822 50417134 312 0
hScc1 CdLSGSE12603 50389997 50390626 629 0
p130 shRbSenescentGSE19898 50410807 50410980 173 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
3136 EST chr10 50297328 50350955 14241 mRNA ERCC6 chr10 50336714 50417078 Non-exonic Bidirectional (NOB) 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


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