AutismKB 2.0

Annotation Detail for SNRNP40


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SNRNP40 ( 40K,FLJ41108,HPRP8BP,MGC1910,PRP8BP,PRPF8BP,RP11-490K7.3,SPF38,WDR57 )
Gene Full Name: small nuclear ribonucleoprotein 40kDa (U5)
Band: 1p35.2
Quick LinksEntrez ID:9410; OMIM: 607797; Uniprot ID:SNR40_HUMAN; ENSEMBL ID: ENSG00000060688; HGNC ID: 30857
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004814
  • Location:chr1 31505001-31542230
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 31540796 31543769 2973 52
p130 shRbSenescentGSE19898 31541784 31542732 948 28
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 31541018 31542114 1096 0
H3ac HepG2E 31538732 31538999 267 0
LIN9 G0GSE7516 31541488 31542677 1189 0
Rb GrowingGSE19898 31542067 31542295 228 0
Rb QuiescentGSE19898 31541998 31542350 352 0
Rb SenescentGSE19898 31541632 31542621 989 0
Rb shRbSenescenceGSE19898 31542039 31542298 259 0
TAF k562GSE8489 31540796 31542459 1663 0
p130 SenescentGSE19898 31541691 31542677 986 0
p130 shRbQuiescentGSE19898 31541619 31542318 699 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
510 EST chr1 31405304 31405866 562 mRNA WDR57 chr1 31401613 31438704 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