AutismKB 2.0

Annotation Detail for SP140


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Basic Information Top
Gene Symbol:SP140 ( LYSP100,LYSP100-A,LYSP100-B,MGC126440 )
Gene Full Name: SP140 nuclear body protein
Band: 2q37.1
Quick LinksEntrez ID:11262; OMIM: 608602; Uniprot ID:LY10_HUMAN; ENSEMBL ID: ENSG00000079263; HGNC ID: 17133
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
514Nuclear localization signal (Potential).
Location(AA) Modifications Resource
Location(AA) Modification Resource
78Phosphotyrosine(Syk)HMM predict
132Phosphoserine(CDK)HMM predict
183Phosphoserine(CK1)HMM predict
277Phosphoserine(CDK)HMM predict
277Phosphoserine(CDC2)HMM predict
288Phosphotyrosine(Syk)HMM predict
288Phosphotyrosine(EGFR)HMM predict
352Phosphoserine(PKA)HMM predict
413PhosphoserineHMM predict
413Phosphoserine(CK2)HMM predict
413Phosphoserine(CAMK2)HMM predict
413Phosphoserine(IKK)HMM predict
413Phosphoserine(PKB)HMM predict
413Phosphoserine(PKA)HMM predict
413Phosphoserine(PKG)HMM predict
429PhosphoserineHMM predict
449Phosphotyrosine(INSR)HMM predict
449Phosphotyrosine(Syk)HMM predict
467Phosphoserine(CDC2)HMM predict
474Phosphoserine(PKB)HMM predict
489N-linkedHMM predict
518Phosphoserine(PKG)HMM predict
550MethylarginineHMM predict
560Phosphothreonine(PKA)HMM predict
582Phosphothreonine(PKC)HMM predict
679N-linkedHMM predict
680N-linkedHMM predict
704S-palmitoylHMM predict
705S-palmitoylHMM predict
708S-palmitoylHMM predict
738Phosphoserine(PKG)HMM predict
813Phosphotyrosine(EGFR)HMM predict
813Phosphotyrosine(Abl)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007237
  • Location:chr2 230798689-230886173
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 230894174 230894422 248 8125
CTCF G2GSE9613 230895954 230896467 513 10037
CTCF G2GSE9613 230898253 230898634 381 12270
ETS1 JurkatGSE17954 230899513 230900732 1219 13949
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 230878601 230878955 354 0
NRSF JurkatGSE13047 230862201 230863010 809 0
NRSF mAbJurkat 230856772 230857306 534 0
NRSF mAbJurkat 230858257 230861270 3013 0
NRSF mAbJurkat 230862747 230864104 1357 0
NRSF mAbJurkat 230864990 230866257 1267 0
NRSF mAbJurkat 230866600 230868046 1446 0
NRSF-mono JurkatQuESTdata 230862210 230862610 400 0
NRSF-poly JurkatQuESTdata 230862323 230863103 780 0
hScc1 BcellGSE12603 230823596 230823888 292 0
hScc1 BcellGSE12603 230878601 230878955 354 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