AutismKB 2.0

Annotation Detail for MCCC2


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Basic Information Top
Gene Symbol:MCCC2 ( MCCB )
Gene Full Name: methylcrotonoyl-CoA carboxylase 2 (beta)
Band: 5q13.2
Quick LinksEntrez ID:64087; OMIM: 609014; Uniprot ID:MCCB_HUMAN; ENSEMBL ID: ENSG00000131844; HGNC ID: 6937
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022132
  • Location:chr5 70918909-70988980
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 70918556 70918739 183 262
NFkBII GM10847GSE19485 70917940 70919711 1771 84
USF1 HepG2E 70918643 70918931 288 123
p130 QuiescentGSE19898 70918527 70918782 255 255
p130 SenescentGSE19898 70918342 70918874 532 302
p130 shRbQuiescentGSE19898 70918439 70918967 528 207
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 70999568 70999606 38 10607
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 70932789 70933096 307 0
CTCF CD4SISSRdata 70932789 70933096 307 0
CTCF G2GSE9613 70918746 70919074 328 0
CTCF G2GSE9613 70932907 70933132 225 0
ER MCF7GSE19013 70932839 70933608 769 0
ER MCF7GSE19013 70962766 70963636 870 0
FOXA1 MCF7GSE15244 70963544 70964183 639 0
FoxA1 MCF7MACSdata 70963655 70964189 534 0
H3K4me2 HCT116GSE10453 70919885 70920766 881 0
H3ac HepG2E 70919885 70920970 1085 0
P300 T0-glioblastomaGSE21026 70932889 70933880 991 0
P300 T30-glioblastomaGSE21026 70932502 70933908 1406 0
RARA MCF7GSE15244 70963544 70964183 639 0
TAF HelaGSE8489 70919885 70920730 845 0
USF1 HepG2E 70919885 70920970 1085 0
hScc1 BcellGSE12603 70932907 70933094 187 0
hScc1 CdLSGSE12603 70932907 70933094 187 0
p130 SenescentGSE19898 70919087 70919387 300 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