AutismKB 2.0

Annotation Detail for MAMDC4


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Basic Information Top
Gene Symbol:MAMDC4 ( AEGP,DKFZp434M1411 )
Gene Full Name: MAM domain containing 4
Band: 9q34.3
Quick LinksEntrez ID:158056; OMIM: NA; Uniprot ID:AEGP_HUMAN; ENSEMBL ID: ENSG00000177943; HGNC ID: 24083
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
197Phosphothreonine.
203N-linked (GlcNAc...) (Potential).
205Phosphothreonine.
281N-linked (GlcNAc...) (Potential).
339N-linked (GlcNAc...) (Potential).
583N-linked (GlcNAc...) (Potential).
636N-linked (GlcNAc...) (Potential).
835N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
203N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
281N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
339N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
583N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
636N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
835N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
57O-linkedHMM predict
59Phosphothreonine(PKC)HMM predict
132Phosphothreonine(PKC)HMM predict
203N-linkedHMM predict
335Phosphoserine(CK2)HMM predict
338Phosphoserine(IKK)HMM predict
517Phosphoserine(PKG)HMM predict
521Phosphoserine(ATM)HMM predict
521Phosphoserine(IKK)HMM predict
524Phosphoserine(CK2)HMM predict
636N-linkedHMM predict
769Phosphothreonine(PKC)HMM predict
823Phosphoserine(CDC2)HMM predict
835N-linkedHMM predict
849O-linkedHMM predict
874Phosphoserine(IKK)HMM predict
877Phosphoserine(CK1)HMM predict
1002Phosphothreonine(MAPK)HMM predict
1004O-linkedHMM predict
1065Phosphotyrosine(Syk)HMM predict
1142O-linkedHMM predict
1142Phosphoserine(CDC2)HMM predict
1146O-linkedHMM predict
1151Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_206920
  • Location:chr9 138866639-138875069
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 138875097 138875902 805 430
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 138873223 138874383 1160 0
hScc1 BcellGSE12603 138868918 138869141 223 0
hScc1 BcellGSE12603 138869593 138869953 360 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