AutismKB 2.0

Annotation Detail for MMAA


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Basic Information Top
Gene Symbol:MMAA ( MGC120010,MGC120011,MGC120012,MGC120013,cblA )
Gene Full Name: methylmalonic aciduria (cobalamin deficiency) cblA type
Band: 4q31.21
Quick LinksEntrez ID:166785; OMIM: 607481; Uniprot ID:MMAA_HUMAN; ENSEMBL ID: ENSG00000151611; HGNC ID: 18871
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
79Phosphoserine(CK2)HMM predict
149Phosphoserine(ATM)HMM predict
182Phosphoserine(IKK)HMM predict
186Phosphoserine(IKK)HMM predict
198Phosphothreonine(PKA)HMM predict
207Phosphotyrosine(INSR)HMM predict
211Phosphoserine(CDC2)HMM predict
216Phosphothreonine(PKA)HMM predict
405LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_172250
  • Location:chr4 146779676-146796186
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 146759430 146760438 1008 19743
CTCF G2GSE9613 146764555 146764834 279 14982
ER E2-MCF7GSE14664 146763796 146763834 38 15862
H3ac HepG2E 146760200 146760577 377 19288
Nanog hESGSE18292 146764948 146765179 231 14613
Oct1 HelaGSE14283 146763795 146763829 34 15865
PHF8 293TGSE20725 146759348 146760573 1225 19716
PHF8 HeLaGSE20725 146759092 146760445 1353 19908
PHF8 Hs68minusFBSGSE20725 146759418 146760445 1027 19745
PHF8 Hs68plusFBSGSE20725 146759332 146760613 1281 19704
PolII HeLaGSE12783 146758862 146760677 1815 19907
Rb QuiescentGSE19898 146759936 146760158 222 19630
Rb SenescentGSE19898 146759795 146760294 499 19632
TAF HelaGSE8489 146760049 146761186 1137 19059
TFAP2C MCF7GSE21234 146759488 146760164 676 19851
hScc1 BcellGSE12603 146759626 146760021 395 19853
hScc1 G2GSE9613 146759245 146760556 1311 19776
p130 SenescentGSE19898 146759608 146760010 402 19868
p130 SenescentGSE19898 146760317 146760600 283 19218
p130 shRbQuiescentGSE19898 146759445 146760070 625 19919
p130 shRbSenescentGSE19898 146759657 146760110 453 19793
p130 shRbSenescentGSE19898 146760186 146760469 283 19349
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 146799599 146799677 78 3452
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 146788724 146788868 144 0
ER E2-MCF7GSE14664 146788987 146789252 265 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
20292 mRNA MMAA chr4 146917831 146934342 120 EST chr4 146920947 146929359Sense/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