AutismKB 2.0

Annotation Detail for REPS1


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Basic Information Top
Gene Symbol:REPS1 ( RALBP1 )
Gene Full Name: RALBP1 associated Eps domain containing 1
Band: 6q24.1
Quick LinksEntrez ID:85021; OMIM: NA; Uniprot ID:REPS1_HUMAN; ENSEMBL ID: ENSG00000135597; HGNC ID: 15578
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
118Phosphoserine.
143Phosphoserine.
162Phosphoserine.
166Phosphoserine.
170Phosphoserine.
173Phosphothreonine.
174Phosphoserine.
186Phosphoserine (By similarity).
272Phosphoserine.
288Phosphotyrosine (Potential).
307Phosphoserine.
392Phosphoserine.
481Phosphothreonine.
489Phosphoserine.
535Phosphoserine.
537Phosphoserine.
539Phosphothreonine.
540Phosphoserine.
562Phosphoserine.
709Phosphoserine.
751Phosphoserine.
Location(AA) Modifications Resource
220Phosphoserine (By similarity).Swiss-Prot 53.0
236Phosphotyrosine (Potential).Swiss-Prot 53.0
437Phosphoserine.Swiss-Prot 53.0
699Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
18Phosphotyrosine(Jak)HMM predict
40Phosphothreonine(PKC)HMM predict
63Phosphoserine(CAMK2)HMM predict
66Phosphoserine(CK2)HMM predict
110Phosphoserine(MAPK)HMM predict
110O-linkedHMM predict
110Phosphoserine(CDC2)HMM predict
114O-linkedHMM predict
114Phosphoserine(CDC2)HMM predict
114O-linkedHMM predict
118O-linkedHMM predict
134Phosphoserine(PKB)HMM predict
159Phosphoserine(IKK)HMM predict
170O-linkedHMM predict
170Phosphoserine(CDC2)HMM predict
184Phosphothreonine(MAPK)HMM predict
184O-linkedHMM predict
220Phosphoserine(PKG)HMM predict
220Phosphoserine(PKA)HMM predict
236SulfotyrosineHMM predict
237Phosphotyrosine(Jak)HMM predict
305Phosphotyrosine(INSR)HMM predict
338O-linkedHMM predict
340Phosphoserine(CDC2)HMM predict
347Phosphoserine(IKK)HMM predict
347O-linkedHMM predict
349Phosphoserine(CDC2)HMM predict
351Phosphoserine(IKK)HMM predict
351PhosphoserineHMM predict
356N-linkedHMM predict
363N-linkedHMM predict
365Phosphoserine(CK1)HMM predict
376Phosphoserine(CK1)HMM predict
377Phosphoserine(CK1)HMM predict
378Phosphoserine(CK1)HMM predict
379Phosphoserine(IKK)HMM predict
379Phosphoserine(ATM)HMM predict
427N-linkedHMM predict
430Phosphoserine(MAPK)HMM predict
466Phosphoserine(IKK)HMM predict
477N-linkedHMM predict
483Phosphoserine(CAMK2)HMM predict
485PhosphoserineHMM predict
485Phosphoserine(IKK)HMM predict
485Phosphoserine(ATM)HMM predict
485Phosphoserine(CK1)HMM predict
492O-linkedHMM predict
504O-linkedHMM predict
514N-linkedHMM predict
542O-linkedHMM predict
542Phosphoserine(ATM)HMM predict
565Phosphoserine(CDC2)HMM predict
565O-linkedHMM predict
621PhosphothreonineHMM predict
623Phosphoserine(CK1)HMM predict
629O-linkedHMM predict
681Phosphoserine(ATM)HMM predict
715Phosphoserine(CK1)HMM predict
730Phosphoserine(PKG)HMM predict
730Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_031922
  • Location:chr6 139267313-139351090
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 139351091 139351384 293 147
CTCF CD4SISSRdata 139351091 139351384 293 147
CTCF JurkatGSE12889 139351117 139351409 292 173
FoxA1 MCF7MACSdata 139352026 139352224 198 1035
H3ac HepG2E 139351398 139351942 544 580
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 139350271 139351572 1301 0
H3K4me2 HCT116GSE10453 139348841 139350116 1275 0
H3K4me3 colorectalcancer 139349100 139350271 1171 0
H3ac HepG2E 139346439 139346883 444 0
H3ac HepG2E 139347454 139348309 855 0
H3ac HepG2E 139349233 139350218 985 0
PAX3-FKHR Rh4GSE19063 139334725 139335775 1050 0
TAF k562GSE8489 139347454 139350071 2617 0
hScc1 BcellGSE12603 139350542 139351604 1062 0
hScc1 CdLSGSE12603 139347454 139347668 214 0
hScc1 CdLSGSE12603 139350271 139351876 1605 0
hScc1 G2GSE9613 139350189 139351504 1315 0
p63 keratinocytesGSE17611 139277328 139277998 670 0
Validated miRNA targets Top
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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