AutismKB 2.0

Annotation Detail for POM121C


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Basic Information Top
Gene Symbol:POM121C ( DKFZp586P2220,DKFZp779K1713,FLJ43877,FLJ45082,MGC163459,MGC163461,POM121-2 )
Gene Full Name: POM121 membrane glycoprotein C
Band: 7q11.23
Quick LinksEntrez ID:100101267; OMIM: NA; Uniprot ID:P121C_HUMAN; ENSEMBL ID: ENSG00000135213; HGNC ID: 34005
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
322Phosphoserine.
323Phosphoserine.
325Phosphoserine.
328Phosphoserine.
366Phosphoserine.
368Phosphoserine.
369Phosphoserine.
370Phosphoserine.
373Phosphoserine.
412Phosphoserine (By similarity).
714N6-acetyllysine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
No data
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
124 Unknown MicroArray miR-1 POM121 n_a 15685193
882 Unknown pSILAC let-7b POM121 down 50-25% 18668040
1182 Unknown pSILAC miR-1 POM121 down 75-50% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000135213 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "epithelium, squamous cell, lymphoblast, lymphocyte, leukocyte" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000135213 n_a n_a n_a "epithelium, squamous cell, lymphoblast, lymphocyte, leukocyte" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000135213 n_a n_a n_a "epithelium, squamous cell, lymphoblast, lymphocyte, leukocyte" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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