AutismKB 2.0

Annotation Detail for PMPCA


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Basic Information Top
Gene Symbol:PMPCA ( Alpha-MPP,FLJ26258,INPP5E,KIAA0123,MGC104197 )
Gene Full Name: peptidase (mitochondrial processing) alpha
Band: 9q34.3
Quick LinksEntrez ID:23203; OMIM: 613036; Uniprot ID:MPPA_HUMAN; ENSEMBL ID: ENSG00000165688; HGNC ID: 18667
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
299N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
30Phosphotyrosine(EGFR)HMM predict
177Phosphothreonine(CK2)HMM predict
214Phosphotyrosine(EGFR)HMM predict
305Phosphoserine(IKK)HMM predict
312Phosphothreonine(CDC2)HMM predict
312Phosphothreonine(MAPK)HMM predict
351O-linkedHMM predict
376N-linkedHMM predict
384Phosphotyrosine(Syk)HMM predict
456Phosphothreonine(PKC)HMM predict
503Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015160
  • Location:chr9 138424936-138438032
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 138424416 138425428 1012 15
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 138424502 138425445 943 0
GABP k562GSE8489 138425406 138426931 1525 0
H3K4me2 HCT116GSE10453 138425775 138426369 594 0
H3K4me3 colorectalcancer 138425441 138426333 892 0
H3ac HepG2E 138425184 138426369 1185 0
P300 T30-glioblastomaGSE21026 138424489 138425688 1199 0
TAF HelaGSE8489 138425908 138426648 740 0
TAF k562GSE8489 138425529 138426792 1263 0
TAFII hESGSE17917 138424768 138425265 497 0
TFAP2C MCF7GSE21234 138424762 138425302 540 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
27220 mRNA PMPCA chr9 136580952 136594049 528 EST chr9 136577538 136581480 Non-exonic Bidirectional (NOB) 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