AutismKB 2.0

Annotation Detail for PRPF40A


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Basic Information Top
Gene Symbol:PRPF40A ( FBP-11,FBP11,FLAF1,FLJ20585,FNBP3,HIP-10,HIP10,HYPA,NY-REN-6,Prp40 )
Gene Full Name: PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
Band: 2q23.3
Quick LinksEntrez ID:55660; OMIM: 612941; Uniprot ID:PR40A_HUMAN; ENSEMBL ID: ENSG00000196504; HGNC ID: 16463
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
34Phosphoserine.
36Phosphoserine (By similarity).
196N6-acetyllysine.
373Phosphothreonine.
680N6-acetyllysine.
828Phosphoserine (By similarity).
830Phosphoserine (By similarity).
832Phosphoserine (By similarity).
834Phosphoserine (By similarity).
883Phosphoserine.
885Phosphoserine.
888Phosphoserine.
932Phosphothreonine.
933Phosphoserine.
935Phosphoserine.
938Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1266 Unknown pSILAC miR-30 PRPF40A down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000196504 n_a n_a n_a "epithelium, squamous cell, lymphocyte, leukocyte" "benign tumour, malignant tumour, carcinoma, 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