AutismKB 2.0

Annotation Detail for SPR


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Basic Information Top
Gene Symbol:SPR ( SDR38C1 )
Gene Full Name: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
Band: 2p13.2
Quick LinksEntrez ID:6697; OMIM: 182125; Uniprot ID:SPRE_HUMAN; ENSEMBL ID: ENSG00000116096; HGNC ID: 11257
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine (By similarity).
213Phosphoserine; by CaMK2; in vitro.
Location(AA) Modifications Resource
1N-acetylmethionine (By similarity).Swiss-Prot 53.0
213Phosphoserine; by CaMK2; in vitro.Swiss-Prot 53.0
213Phosphoserine (CCDPK)Phospho.ELM 6.0
Location(AA) Modification Resource
32Phosphoserine(MAPK)HMM predict
127N-linkedHMM predict
149N-linkedHMM predict
154N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003124
  • Location:chr2 72968055-72972793
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 72963642 72964753 1111 3858
NRSF mAbJurkat 72960509 72961699 1190 6952
NRSF mAbJurkat 72962033 72962734 701 5672
NRSF mAbJurkat 72963759 72964628 869 3862
NRSF mAbJurkat 72966377 72967807 1430 964
NRSF-mono JurkatQuESTdata 72963641 72964660 1019 3905
NRSF-poly JurkatQuESTdata 72963819 72964617 798 3838
Oct1 HelaGSE14283 72956352 72956424 72 11668
hScc1 BcellGSE12603 72967692 72968205 513 107
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 72973423 72973699 276 768
CTCF CD4SISSRdata 72973423 72973699 276 768
CTCF G2GSE9613 72973104 72973535 431 526
CTCF G2GSE9613 72974332 72975053 721 1899
CTCF G2GSE9613 72975346 72975661 315 2710
CTCF G2GSE9613 72976508 72976801 293 3861
Myc hESGSE17917 72973458 72973749 291 810
TFAP2C MCF7GSE21234 72973398 72973811 413 811
hScc1 BcellGSE12603 72973363 72973630 267 703
hScc1 BcellGSE12603 72974332 72974798 466 1772
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 72967545 72969256 1711 0
CTCF G2GSE9613 72969822 72970352 530 0
PHF8 HeLaGSE20725 72967519 72968770 1251 0
hScc1 G2GSE9613 72967585 72968740 1155 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