AutismKB 2.0

Annotation Detail for MMAB


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Basic Information Top
Gene Symbol:MMAB ( ATR,MGC20496,cblB,cob )
Gene Full Name: methylmalonic aciduria (cobalamin deficiency) cblB type
Band: 12q24.11
Quick LinksEntrez ID:326625; OMIM: 607568; Uniprot ID:MMAB_HUMAN; ENSEMBL ID: ENSG00000139428; HGNC ID: 19331
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
88Phosphothreonine(PKC)HMM predict
88Phosphothreonine(CK2)HMM predict
130O-linkedHMM predict
130Phosphothreonine(MAPK)HMM predict
130PhosphothreonineHMM predict
222Phosphothreonine(PKC)HMM predict
238Phosphotyrosine(INSR)HMM predict
244Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_052845
  • Location:chr12 108477661-108495684
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 108494932 108496502 1570 33
Rb shRbSenescenceGSE19898 108495666 108495962 296 130
p130 QuiescentGSE19898 108495463 108496017 554 56
p130 SenescentGSE19898 108495604 108496033 429 134
p130 shRbQuiescentGSE19898 108495339 108496062 723 16
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF-mono JurkatQuESTdata 108473146 108473634 488 4272
NRSF pAbJurkat 108468298 108468852 554 9087
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 108477763 108478484 721 0
CTCF G2GSE9613 108480070 108480622 552 0
CTCF G2GSE9613 108481131 108482137 1006 0
CTCF G2GSE9613 108483427 108483809 382 0
CTCF G2GSE9613 108484565 108484756 191 0
CTCF G2GSE9613 108487719 108488081 362 0
CTCF G2GSE9613 108488825 108489222 397 0
CTCF G2GSE9613 108490557 108490702 145 0
CTCF G2GSE9613 108495394 108495711 317 0
FOXA1 MCF7GSE15244 108494898 108495711 813 0
Fos K562GSE19551 108495086 108496227 1141 0
GATA3 MCF7GSE15244 108494898 108495321 423 0
H3ac HepG2E 108494898 108495394 496 0
KLF4 hESGSE17917 108479985 108480193 208 0
Oct1 HelaGSE14283 108479721 108479751 30 0
P300 T30-glioblastomaGSE21026 108494900 108496117 1217 0
RARA MCF7GSE15244 108494898 108495211 313 0
RARG MCF7GSE15244 108494898 108495321 423 0
Rb SenescentGSE19898 108495107 108496040 933 0
TFAP2C MCF7GSE21234 108489511 108489911 400 0
USF1 HepG2E 108494898 108495648 750 0
USF2 HepG2E 108494898 108495394 496 0
hScc1 BcellGSE12603 108481487 108481660 173 0
p130 QuiescentGSE19898 108495258 108495436 178 0
p130 SenescentGSE19898 108495173 108495574 401 0
p130 shRbSenescentGSE19898 108495221 108496028 807 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-16 hsa-mir-16-1 13 20668064
hsa-miR-16 hsa-mir-16-2 3 20668064
hsa-miR-16 hsa-mir-16-1 13 19536137
hsa-miR-16 hsa-mir-16-2 3 19536137
hsa-miR-16 hsa-mir-16-1 13 20668064
hsa-miR-16 hsa-mir-16-2 3 20668064
hsa-miR-16 hsa-mir-16-1 13 19536137
hsa-miR-16 hsa-mir-16-2 3 19536137
hsa-miR-16 hsa-mir-16-1 13 20668064
hsa-miR-16 hsa-mir-16-2 3 20668064
hsa-miR-16 hsa-mir-16-1 13 19536137
hsa-miR-16 hsa-mir-16-2 3 19536137
No data
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
6591 EST chr12 108473861 108486621 151 mRNA MMAB chr12 108455998 108474022Sense/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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