AutismKB 2.0

Annotation Detail for SPG11


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Basic Information Top
Gene Symbol:SPG11 ( DKFZp762B1512,FLJ21439,KIAA1840 )
Gene Full Name: spastic paraplegia 11 (autosomal recessive)
Band: 15q21.1
Quick LinksEntrez ID:80208; OMIM: 610844; Uniprot ID:SPTCS_HUMAN; ENSEMBL ID: ENSG00000104133; HGNC ID: 11226
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
612N-linked (GlcNAc...) (Potential).
1046N-linked (GlcNAc...) (Potential).
1955Phosphoserine.
1958Phosphoserine.
1961Phosphoserine.
Location(AA) Modifications Resource
612N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1046N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
9O-linkedHMM predict
69Phosphothreonine(MAPK)HMM predict
94N-linkedHMM predict
96Phosphoserine(PKA)HMM predict
96Phosphoserine(PKB)HMM predict
97Phosphothreonine(MAPK)HMM predict
116SulfotyrosineHMM predict
161N-linkedHMM predict
162N-linkedHMM predict
265Phosphoserine(ATM)HMM predict
346N-linkedHMM predict
351N-linkedHMM predict
352Phosphoserine(PKG)HMM predict
357Phosphoserine(IKK)HMM predict
371PhosphoserineHMM predict
374Phosphoserine(CDK)HMM predict
374Phosphoserine(ATM)HMM predict
376N-linkedHMM predict
475Phosphoserine(IKK)HMM predict
523C-linkedHMM predict
557N-linkedHMM predict
562Phosphoserine(IKK)HMM predict
563Phosphoserine(IKK)HMM predict
563Phosphoserine(CK1)HMM predict
599Phosphoserine(IKK)HMM predict
599Phosphoserine(CK1)HMM predict
612N-linkedHMM predict
668SulfotyrosineHMM predict
781Phosphotyrosine(INSR)HMM predict
871Phosphoserine(MAPK)HMM predict
875Phosphotyrosine(Syk)HMM predict
934Phosphotyrosine(INSR)HMM predict
1046N-linkedHMM predict
1071Phosphoserine(CAMK2)HMM predict
1071Phosphoserine(IKK)HMM predict
1121Phosphothreonine(MAPK)HMM predict
1138O-linkedHMM predict
1154Phosphoserine(ATM)HMM predict
1184Phosphoserine(CDK)HMM predict
1290Phosphotyrosine(SRC)HMM predict
1311Phosphothreonine(PKC)HMM predict
1311Phosphothreonine(CK2)HMM predict
1312Phosphothreonine(CK2)HMM predict
1336Phosphoserine(CK2)HMM predict
1337Phosphoserine(CAMK2)HMM predict
1337Phosphoserine(IKK)HMM predict
1337Phosphoserine(CK1)HMM predict
1339Phosphoserine(CK1)HMM predict
1340Phosphoserine(CK1)HMM predict
1341Phosphoserine(ATM)HMM predict
1383Phosphotyrosine(INSR)HMM predict
1509Phosphoserine(CK2)HMM predict
1565Phosphotyrosine(EGFR)HMM predict
1657N-linkedHMM predict
1714Phosphothreonine(PKC)HMM predict
1753O-linkedHMM predict
1823O-linkedHMM predict
1827Phosphoserine(PKG)HMM predict
1827Phosphoserine(CAMK2)HMM predict
1850N-linkedHMM predict
1958Phosphoserine(CK1)HMM predict
2026Phosphoserine(ATM)HMM predict
2064O-linkedHMM predict
2065Phosphoserine(ATM)HMM predict
2075N-linkedHMM predict
2156Phosphotyrosine(SRC)HMM predict
2248Phosphoserine(ATM)HMM predict
2363Phosphotyrosine(EGFR)HMM predict
2376Phosphoserine(CK2)HMM predict
2436CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_025137
  • Location:chr15 42642186-42743167
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 42743038 42743540 502 122
CTCF CD4SISSRdata 42743038 42743540 502 122
ER Fulvestrant-MCF7GSE14664 42747772 42747841 69 4639
H3ac HepG2E 42745950 42746132 182 2874
Nanog ESGSE20650 42762660 42763112 452 19719
Oct1 HelaGSE14283 42746668 42746710 42 3522
hScc1 BcellGSE12603 42742743 42743612 869 10
hScc1 BcellGSE12603 42746418 42746597 179 3340
hScc1 CdLSGSE12603 42742854 42743724 870 122
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 42690233 42690948 715 0
CTCF CD4GSE12889 42657917 42658279 362 0
CTCF CD4GSE12889 42663738 42663924 186 0
CTCF CD4GSE12889 42672528 42672780 252 0
CTCF CD4SISSRdata 42657917 42658279 362 0
CTCF CD4SISSRdata 42663738 42663924 186 0
CTCF CD4SISSRdata 42672528 42672780 252 0
CTCF G2GSE9613 42663654 42664094 440 0
CTCF G2GSE9613 42742776 42743331 555 0
H3K4me3 colorectalcancer 42742176 42742506 330 0
H3ac HepG2E 42742176 42742811 635 0
P300 T30-glioblastomaGSE21026 42742040 42743587 1547 0
PHF8 HeLaGSE20725 42742343 42743509 1166 0
Rb QuiescentGSE19898 42742654 42742920 266 0
Rb SenescentGSE19898 42742660 42742895 235 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
8762 mRNA EIF3S1 chr15 42616624 42642291 100 mRNA FLJ21439 chr15 42642191 42743138Sense/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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