AutismKB 2.0

Annotation Detail for MCPH1


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Basic Information Top
Gene Symbol:MCPH1 ( BRIT1,FLJ12847,MCT )
Gene Full Name: microcephalin 1
Band: 8p23.1
Quick LinksEntrez ID:79648; OMIM: 607117; Uniprot ID:MCPH1_HUMAN; ENSEMBL ID: ENSG00000147316; HGNC ID: 6954
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
333Phosphoserine.
339Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
19N-linkedHMM predict
23N-linkedHMM predict
56Phosphotyrosine(EGFR)HMM predict
157N-linkedHMM predict
165O-linkedHMM predict
169N-linkedHMM predict
189N-linkedHMM predict
191Phosphoserine(CDC2)HMM predict
195O-linkedHMM predict
204N-linkedHMM predict
207N-linkedHMM predict
277Phosphoserine(CDC2)HMM predict
294N-linkedHMM predict
296Phosphoserine(CK1)HMM predict
338Phosphoserine(PKC)HMM predict
352Phosphoserine(CDC2)HMM predict
365Phosphoserine(ATM)HMM predict
377Phosphothreonine(PKA)HMM predict
377Phosphothreonine(PKC)HMM predict
410Phosphoserine(CK2)HMM predict
412Phosphotyrosine(Syk)HMM predict
415SulfotyrosineHMM predict
415Phosphotyrosine(INSR)HMM predict
415Phosphotyrosine(Syk)HMM predict
433Phosphoserine(ATM)HMM predict
438Phosphoserine(ATM)HMM predict
438Phosphoserine(CDC2)HMM predict
438Phosphoserine(MAPK)HMM predict
453Phosphothreonine(PKA)HMM predict
475N-linkedHMM predict
483Phosphoserine(CDC2)HMM predict
495Phosphothreonine(PKC)HMM predict
496Phosphoserine(PKB)HMM predict
496O-linkedHMM predict
497Phosphoserine(IKK)HMM predict
497O-linkedHMM predict
497O-linkedHMM predict
500O-linkedHMM predict
543Phosphothreonine(MAPK)HMM predict
548Phosphoserine(IKK)HMM predict
567Phosphothreonine(PKC)HMM predict
571Phosphoserine(PKG)HMM predict
647Phosphothreonine(PKA)HMM predict
769Phosphoserine(CDC2)HMM predict
769Phosphoserine(ATM)HMM predict
787Phosphoserine(PKG)HMM predict
807Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024596
  • Location:chr8 6276479-6489213
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 6268907 6269135 228 7459
CTCF CD4SISSRdata 6268907 6269135 228 7459
CTCF G2GSE9613 6268891 6269178 287 7445
CTCF G2GSE9613 6269840 6270462 622 6329
CTCF G2GSE9613 6274173 6274381 208 2203
ER E2-MCF7GSE14664 6258732 6258769 37 17729
ER Fulvestrant-MCF7GSE14664 6258733 6258769 36 17729
Gata2 K562GSE18868 6273526 6274502 976 2466
NFkBII GM12878GSE19485 6261835 6263561 1726 13782
Oct1 H2O2-HelaGSE14283 6258741 6258768 27 17725
Oct1 HelaGSE14283 6258731 6258768 37 17730
Stat6 IL-4-hr4GSE17850 6273068 6273712 644 3090
hScc1 BcellGSE12603 6268891 6269144 253 7462
hScc1 BcellGSE12603 6270017 6270317 300 6313
hScc1 CdLSGSE12603 6268891 6269243 352 7413
hScc1 CdLSGSE12603 6269946 6271076 1130 5969
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 6489499 6490367 868 720
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 6421449 6421950 501 0
CTCF CD4GSE12889 6417260 6417475 215 0
CTCF CD4SISSRdata 6417260 6417475 215 0
CTCF G2GSE9613 6333118 6333895 777 0
CTCF G2GSE9613 6417170 6417870 700 0
CTCF G2GSE9613 6441441 6441651 210 0
CTCF G2GSE9613 6443119 6443579 460 0
CTCF G2GSE9613 6452840 6453192 352 0
FOXA1 DLD1GSE12801 6308374 6309538 1164 0
FOXA1 MCF7GSE15244 6411454 6412396 942 0
Nanog ESGSE20650 6438543 6439090 547 0
Nanog hESGSE18292 6438633 6438940 307 0
Oct1 H2O2-HelaGSE14283 6297190 6297229 39 0
Oct1 H2O2-HelaGSE14283 6346539 6346577 38 0
Oct1 H2O2-HelaGSE14283 6437066 6437107 41 0
Oct1 H2O2-HelaGSE14283 6460189 6460226 37 0
Oct1 HelaGSE14283 6297192 6297229 37 0
Oct1 HelaGSE14283 6346543 6346577 34 0
Oct1 HelaGSE14283 6427063 6427124 61 0
Oct1 HelaGSE14283 6431368 6431406 38 0
Oct1 HelaGSE14283 6437068 6437121 53 0
Oct1 HelaGSE14283 6460189 6460226 37 0
Rb GrowingGSE19898 6299401 6299590 189 0
Rb GrowingGSE19898 6463068 6463247 179 0
STAT1 HeLaGSE12783 6470502 6471953 1451 0
STAT1 IFNSISSRdata 6470839 6471749 910 0
Sox2 hESGSE18292 6417199 6417459 260 0
hScc1 BcellGSE12603 6417127 6417515 388 0
hScc1 CdLSGSE12603 6417041 6417481 440 0
p130 QuiescentGSE19898 6423573 6423799 226 0
p63 keratinocytesGSE17611 6459563 6460493 930 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
24996 mRNA MCPH1 chr8 6276479 6489214 184 EST chr8 6463673 6466566Sense/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


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