AutismKB 2.0

Annotation Detail for SPNS1


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Basic Information Top
Gene Symbol:SPNS1 ( FLJ38358,HSpin1,LAT,PP2030,SPIN1,SPINL,nrs )
Gene Full Name: spinster homolog 1 (Drosophila)
Band: 16p11.2
Quick LinksEntrez ID:83985; OMIM: 612583; Uniprot ID:SPNS1_HUMAN; ENSEMBL ID: ENSG00000169682; HGNC ID: 30621
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
518Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032038
  • Location:chr16 28893649-28903357
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 28892645 28893355 710 650
Fos K562GSE19551 28893256 28893919 663 62
HIF1 NormHepG2 28892967 28893900 933 216
Oct1 H2O2-HelaGSE14283 28890940 28890968 28 2696
Oct1 HelaGSE14283 28890939 28890972 33 2694
P300 T0-glioblastomaGSE21026 28892563 28894016 1453 360
P300 T30-glioblastomaGSE21026 28892560 28894322 1762 209
PHF8 Hs68plusFBSGSE20725 28892725 28894240 1515 167
TFAP2C MCF7GSE21234 28892968 28893894 926 219
USF1 HepG2E 28892403 28894419 2016 239
USF2 HepG2E 28892403 28894419 2016 239
p130 SenescentGSE19898 28893095 28893838 743 183
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 28896577 28896832 255 0
CTCF CD4SISSRdata 28896577 28896832 255 0
CTCF G2GSE9613 28896476 28897152 676 0
CTCF G2GSE9613 28900163 28900749 586 0
CTCF G2GSE9613 28901060 28901316 256 0
ETS1 JurkatGSE17954 28893066 28894427 1361 0
PHF8 HeLaGSE20725 28893105 28894310 1205 0
USF1 HepG2E 28895128 28895836 708 0
USF1 HepG2E 28896176 28897604 1428 0
USF2 HepG2E 28895128 28895836 708 0
hScc1 BcellGSE12603 28901804 28902208 404 0
p130 shRbQuiescentGSE19898 28893378 28893935 557 0
p130 shRbSenescentGSE19898 28893447 28893977 530 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