AutismKB 2.0

Annotation Detail for SPG21


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Basic Information Top
Gene Symbol:SPG21 ( ACP33,GL010,MASPARDIN,MAST )
Gene Full Name: spastic paraplegia 21 (autosomal recessive, Mast syndrome)
Band: 15q22.31
Quick LinksEntrez ID:51324; OMIM: 608181; Uniprot ID:SPG21_HUMAN; ENSEMBL ID: ENSG00000090487; HGNC ID: 20373
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
304Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
29Phosphoserine(CK1)HMM predict
136Phosphoserine(IKK)HMM predict
144N-linkedHMM predict
150N-linkedHMM predict
167N-linkedHMM predict
268Phosphotyrosine(Abl)HMM predict
304Phosphoserine(CK2)HMM predict
304Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016630
  • Location:chr15 63042416-63069303
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TAF HelaGSE8489 63069555 63069976 421 462
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 63068628 63069331 703 0
H3K4me3 colorectalcancer 63067644 63068011 367 0
H3K4me3 colorectalcancer 63068408 63068628 220 0
H3ac HepG2E 63066182 63067118 936 0
H3ac HepG2E 63067644 63068066 422 0
H3ac HepG2E 63068408 63069088 680 0
Nanog hESGSE18292 63058777 63059209 432 0
PHF8 293TGSE20725 63068844 63069522 678 0
PHF8 HeLaGSE20725 63068529 63070072 1543 0
USF1 HepG2E 63067644 63068047 403 0
USF1 HepG2E 63068408 63069088 680 0
USF2 HepG2E 63068408 63069019 611 0
hScc1 BcellGSE12603 63068628 63069236 608 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