AutismKB 2.0

Annotation Detail for MEP1A


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Basic Information Top
Gene Symbol:MEP1A ( PPHA )
Gene Full Name: meprin A, alpha (PABA peptide hydrolase)
Band: 6p12.3
Quick LinksEntrez ID:4224; OMIM: 600388; Uniprot ID:MEP1A_HUMAN; ENSEMBL ID: ENSG00000112818; HGNC ID: 7015
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
140N-linked (GlcNAc...) (Potential).
222N-linked (GlcNAc...) (Potential).
258N-linked (GlcNAc...) (Potential).
414N-linked (GlcNAc...) (Potential).
440N-linked (GlcNAc...) (Potential).
447N-linked (GlcNAc...) (Potential).
539N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
140N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
222N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
258N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
414N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
440N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
447N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
539N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
44Phosphoserine(CK2)HMM predict
113Phosphotyrosine(Syk)HMM predict
175Phosphotyrosine(INSR)HMM predict
222N-linkedHMM predict
227O-linkedHMM predict
258N-linkedHMM predict
321Phosphoserine(CK2)HMM predict
414N-linkedHMM predict
429PhosphothreonineHMM predict
429O-linkedHMM predict
481Phosphotyrosine(INSR)HMM predict
523Phosphoserine(PKA)HMM predict
539N-linkedHMM predict
580Phosphoserine(PKA)HMM predict
626Phosphoserine(CK2)HMM predict
626Phosphoserine(IKK)HMM predict
626Phosphoserine(CK2)HMM predict
644Phosphoserine(ATM)HMM predict
644Phosphoserine(IKK)HMM predict
744ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005588
  • Location:chr6 46869085-46915472
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46857375 46857616 241 11590
Nanog hESGSE18292 46857226 46857499 273 11723
USF2 HepG2E 46865602 46866219 617 3175
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46892560 46892743 183 0
CTCF G2GSE9613 46911098 46911235 137 0
ER Fulvestrant-MCF7GSE14664 46899333 46899405 72 0
Oct1 HelaGSE14283 46872659 46872694 35 0
Oct1 HelaGSE14283 46899341 46899411 70 0
TFAP2C MCF7GSE21234 46897385 46897650 265 0
p63 keratinocytesGSE17611 46896876 46897830 954 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