AutismKB 2.0

Annotation Detail for SPAST


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Basic Information Top
Gene Symbol:SPAST ( ADPSP,FSP2,KIAA1083,SPG4 )
Gene Full Name: spastin
Band: 2p22.3
Quick LinksEntrez ID:6683; OMIM: 604277; Uniprot ID:SPAST_HUMAN; ENSEMBL ID: ENSG00000021574; HGNC ID: 11233
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
11Nuclear localization signal.
67Nuclear export signal.
268Phosphoserine.
303Phosphothreonine.
306Phosphothreonine.
312Nuclear localization signal.
Location(AA) Modifications Resource
Location(AA) Modification Resource
13Phosphoserine(PKA)HMM predict
44Phosphoserine(CDC2)HMM predict
93O-linkedHMM predict
101O-linkedHMM predict
101Phosphoserine(IKK)HMM predict
101O-linkedHMM predict
101O-linkedHMM predict
103Phosphoserine(IKK)HMM predict
103O-linkedHMM predict
205O-linkedHMM predict
227Phosphoserine(CAMK2)HMM predict
251Phosphothreonine(PKC)HMM predict
255PhosphothreonineHMM predict
268PhosphoserineHMM predict
288Phosphothreonine(CDK)HMM predict
292Phosphothreonine(CDK)HMM predict
296N-linkedHMM predict
299N-linkedHMM predict
302O-linkedHMM predict
302O-linkedHMM predict
303Phosphothreonine(MAPK)HMM predict
335N-linkedHMM predict
400N-linkedHMM predict
405N-linkedHMM predict
505Phosphotyrosine(Jak)HMM predict
530Phosphothreonine(PKC)HMM predict
595Phosphoserine(PKG)HMM predict
600Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014946
  • Location:chr2 32142183-32236208
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 32141787 32142572 785 4
ETS1 JurkatGSE17954 32141543 32142486 943 169
FOXA1 MCF7GSE15244 32141556 32142127 571 342
H3K4me3 colorectalcancer 32140896 32142045 1149 713
H3ac HepG2E 32140827 32141822 995 859
Oct1 HelaGSE14283 32134793 32134938 145 7318
hScc1 G2GSE9613 32141787 32142339 552 121
p130 shRbQuiescentGSE19898 32141706 32142355 649 153
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 32214005 32214258 253 0
CTCF CD4SISSRdata 32214005 32214258 253 0
Fos K562GSE19551 32213924 32214389 465 0
H3K4me3 colorectalcancer 32142937 32143557 620 0
Oct1 H2O2-HelaGSE14283 32160719 32160748 29 0
Oct1 H2O2-HelaGSE14283 32191402 32191444 42 0
Oct1 HelaGSE14283 32160717 32160752 35 0
Oct1 HelaGSE14283 32175143 32175221 78 0
Oct1 HelaGSE14283 32187479 32187571 92 0
Oct1 HelaGSE14283 32191391 32191456 65 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
14119 mRNA SPAST chr2 32200330 32294356 322 EST chr2 32290883 32291415Sense/Antisense (SA) 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


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