AutismKB 2.0

Annotation Detail for SPG7


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Basic Information Top
Gene Symbol:SPG7 ( CAR,CMAR,FLJ37308,MGC126331,MGC126332,PGN,SPG5C )
Gene Full Name: spastic paraplegia 7 (pure and complicated autosomal recessive)
Band: 16q24.3
Quick LinksEntrez ID:6687; OMIM: 602783; Uniprot ID:SPG7_HUMAN; ENSEMBL ID: ENSG00000197912; HGNC ID: 11237
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
505Nitrated tyrosine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
39MethylarginineHMM predict
102N-linkedHMM predict
138Phosphotyrosine(EGFR)HMM predict
419Phosphothreonine(PKC)HMM predict
419Phosphothreonine(PKA)HMM predict
495Phosphoserine(Jak)HMM predict
513Phosphothreonine(MAPK)HMM predict
564Phosphoserine(CK1)HMM predict
595Phosphoserine(PKG)HMM predict
655Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003119
  • Location:chr16 88102305-88151673
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 88151332 88151637 305 0
CTCF CD4SISSRdata 88151332 88151637 305 0
CTCF G2GSE9613 88144386 88144674 288 0
CTCF G2GSE9613 88151351 88151643 292 0
ER Breast-CancerGSE22609 88146604 88147195 591 0
ER MCF7GSE19013 88146582 88147254 672 0
RARA MCF7GSE15244 88134883 88135131 248 0
hScc1 BcellGSE12603 88131777 88132159 382 0
hScc1 BcellGSE12603 88144386 88144647 261 0
hScc1 BcellGSE12603 88151010 88151857 847 0
hScc1 CdLSGSE12603 88151253 88151752 499 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