AutismKB 2.0

Annotation Detail for ITPRIPL1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ITPRIPL1 ( KIAA1754L )
Gene Full Name: inositol 1,4,5-triphosphate receptor interacting protein-like 1
Band: 2q11.2
Quick LinksEntrez ID:150771; OMIM: NA; Uniprot ID:IPIL1_HUMAN; ENSEMBL ID: ENSG00000198885; HGNC ID: 29371
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
77Phosphothreonine.
81Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001008949
  • Location:chr2 96354872-96357803
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 96351458 96351635 177 3326
CTCF CD4SISSRdata 96351458 96351635 177 3326
CTCF G2GSE9613 96354519 96354887 368 170
H3K27me3 colorectalcancer 96349826 96350521 695 4699
H3K27me3 colorectalcancer 96351510 96351800 290 3218
H3K4me2 HCT116GSE10453 96350102 96350521 419 4561
Rb GrowingGSE19898 96351210 96351442 232 3547
Stat6 IL-4-hr1GSE17850 96344856 96345343 487 9773
USF2 HepG2E 96347048 96347297 249 7700
hScc1 G2GSE9613 96354519 96354923 404 152
p130 shRbSenescentGSE19898 96350888 96351169 281 3844
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 96355341 96355773 432 0
H3ac HepG2E 96354023 96356937 2914 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