AutismKB 2.0

Annotation Detail for RB1CC1


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Basic Information Top
Gene Symbol:RB1CC1 ( CC1,FIP200 )
Gene Full Name: RB1-inducible coiled-coil 1
Band: 8q11.23
Quick LinksEntrez ID:9821; OMIM: 606837; Uniprot ID:RBCC1_HUMAN; ENSEMBL ID: ENSG00000023287; HGNC ID: 15574
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
237Phosphoserine.
243Phosphoserine.
257Phosphoserine.
261Phosphoserine (By similarity).
537Phosphoserine.
569Nuclear localization signal (Potential).
624Phosphoserine.
647Phosphoserine.
650Phosphoserine.
652Phosphoserine.
653Phosphoserine.
666Phosphothreonine (By similarity).
Location(AA) Modifications Resource
237Phosphoserine (By similarity).Swiss-Prot 53.0
243PhosphoserinePhospho.ELM 6.0
537Phosphoserine.Swiss-Prot 53.0
537PhosphoserinePhospho.ELM 6.0
666Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
163PhosphoserineHMM predict
229Phosphoserine(CK1)HMM predict
229Phosphoserine(CK2)HMM predict
234Phosphothreonine(PKC)HMM predict
274Phosphoserine(CK2)HMM predict
274Phosphoserine(CK1)HMM predict
284Phosphoserine(CK1)HMM predict
305N-linkedHMM predict
537Phosphoserine(PKA)HMM predict
561Phosphoserine(IKK)HMM predict
624Phosphoserine(IKK)HMM predict
629Phosphoserine(CK1)HMM predict
642Phosphoserine(IKK)HMM predict
644Phosphoserine(IKK)HMM predict
644Phosphoserine(ATM)HMM predict
644O-linkedHMM predict
647O-linkedHMM predict
650Phosphoserine(IKK)HMM predict
652Phosphoserine(IKK)HMM predict
653Phosphoserine(MAPK)HMM predict
653O-linkedHMM predict
653Phosphoserine(CDC2)HMM predict
663O-linkedHMM predict
664O-linkedHMM predict
666O-linkedHMM predict
667Phosphoserine(CDC2)HMM predict
667Phosphoserine(CDK)HMM predict
667O-linkedHMM predict
670Phosphothreonine(CDK)HMM predict
670Phosphothreonine(MAPK)HMM predict
691Phosphoserine(ATM)HMM predict
727Phosphoserine(ATM)HMM predict
744N-linkedHMM predict
746Phosphoserine(CK1)HMM predict
747Phosphoserine(ATM)HMM predict
747Phosphoserine(CDC2)HMM predict
749N-linkedHMM predict
756Phosphoserine(IKK)HMM predict
756PhosphoserineHMM predict
982Phosphoserine(CK1)HMM predict
1088Phosphothreonine(PKC)HMM predict
1205Phosphotyrosine(EGFR)HMM predict
1222Phosphoserine(ATM)HMM predict
1274Phosphoserine(CDC2)HMM predict
1284Phosphoserine(PKA)HMM predict
1390Phosphoserine(CK1)HMM predict
1396Phosphoserine(PKB)HMM predict
1396Phosphoserine(IKK)HMM predict
1400Phosphoserine(CDC2)HMM predict
1400O-linkedHMM predict
1424Phosphoserine(IKK)HMM predict
1486Phosphoserine(IKK)HMM predict
1493Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014781
  • Location:chr8 53697571-53789544
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 53788893 53790455 1562 130
ETS1 JurkatGSE17954 53789042 53790259 1217 106
H3K4me3 colorectalcancer 53789988 53790703 715 801
H3ac HepG2E 53790058 53791024 966 997
Oct1 H2O2-HelaGSE14283 53798158 53798186 28 8628
PHF8 293TGSE20725 53788986 53790434 1448 166
PHF8 Hs68minusFBSGSE20725 53789259 53790279 1020 225
hScc1 CdLSGSE12603 53788859 53790703 1844 237
hScc1 G2GSE9613 53788966 53790419 1453 148
p130 SenescentGSE19898 53789741 53790009 268 331
p130 shRbQuiescentGSE19898 53789661 53790109 448 341
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 53773599 53774233 634 0
FOXA1 MCF7GSE15244 53788341 53788823 482 0
Fos K562GSE19551 53781861 53782196 335 0
FoxA1 MCF7MACSdata 53704583 53704801 218 0
H3K4me3 colorectalcancer 53787890 53788722 832 0
H3ac HepG2E 53787706 53788722 1016 0
Myc hESGSE17917 53788969 53789464 495 0
NRSF pAbJurkat 53789034 53789554 520 0
Nanog ESGSE20650 53729401 53729857 456 0
Oct1 HelaGSE14283 53744544 53744575 31 0
hScc1 BcellGSE12603 53788788 53789554 766 0
p130 QuiescentGSE19898 53788431 53788614 183 0
p130 QuiescentGSE19898 53788692 53789013 321 0
p130 SenescentGSE19898 53788284 53788478 194 0
p130 SenescentGSE19898 53788523 53788997 474 0
p130 shRbSenescentGSE19898 53788262 53788537 275 0
p130 shRbSenescentGSE19898 53788584 53788982 398 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-138 hsa-mir-138-2 16 19888451
hsa-miR-138 hsa-mir-138-1 3 19888451
No data
Cis-Nats regulation Top

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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