AutismKB 2.0

Annotation Detail for SF1


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Basic Information Top
Gene Symbol:SF1 ( BBP,D11S636,MBBP,ZFM1,ZNF162 )
Gene Full Name: splicing factor 1
Band: 11q13.1
Quick LinksEntrez ID:7536; OMIM: 601516; Uniprot ID:SF01_HUMAN; ENSEMBL ID: ENSG00000168066; HGNC ID: 12950
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
19Nuclear localization signal (Potential).
20Phosphoserine; by PKG.
80Phosphoserine.
82Phosphoserine.
87Phosphotyrosine.
89Phosphoserine.
Location(AA) Modifications Resource
2N-acetylalanine.Swiss-Prot 53.0
19Phosphoserine (PKG1/cGK-I)Phospho.ELM 6.0
20Phosphoserine (by PKG).Swiss-Prot 53.0
79PhosphoserinePhospho.ELM 6.0
80Phosphoserine.Swiss-Prot 53.0
81PhosphoserinePhospho.ELM 6.0
82Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
8Phosphothreonine(MAPK)HMM predict
20Phosphoserine(PKA)HMM predict
20Phosphoserine(PKG)HMM predict
52Phosphotyrosine(Jak)HMM predict
67Phosphothreonine(PKA)HMM predict
80PhosphoserineHMM predict
82Phosphoserine(ATM)HMM predict
82PhosphoserineHMM predict
82Phosphoserine(CDC2)HMM predict
87Phosphotyrosine(SRC)HMM predict
96Phosphothreonine(PKC)HMM predict
129Phosphotyrosine(Syk)HMM predict
182Phosphoserine(PKG)HMM predict
251N-linkedHMM predict
272Phosphoserine(PKA)HMM predict
272Phosphoserine(IKK)HMM predict
275N-linkedHMM predict
277O-linkedHMM predict
328Phosphoserine(IKK)HMM predict
331O-linkedHMM predict
332O-linkedHMM predict
332O-linkedHMM predict
333O-linkedHMM predict
333O-linkedHMM predict
333O-linkedHMM predict
338Phosphothreonine(MAPK)HMM predict
338O-linkedHMM predict
338O-linkedHMM predict
342O-linkedHMM predict
342O-linkedHMM predict
357O-linkedHMM predict
360Phosphoserine(CK1)HMM predict
360Phosphoserine(IKK)HMM predict
361O-linkedHMM predict
403O-linkedHMM predict
450Phosphotyrosine(Jak)HMM predict
486O-linkedHMM predict
494O-linkedHMM predict
515O-linkedHMM predict
516O-linkedHMM predict
528N-linkedHMM predict
530O-linkedHMM predict
531O-linkedHMM predict
533O-linkedHMM predict
534O-linkedHMM predict
535O-linkedHMM predict
535O-linkedHMM predict
540O-linkedHMM predict
554Phosphoserine(MAPK)HMM predict
554O-linkedHMM predict
563N-linkedHMM predict
592O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_201995
  • Location:chr11 64288653-64302816
  • 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 64291784 64292106 322 0
CTCF CD4SISSRdata 64291784 64292106 322 0
hScc1 BcellGSE12603 64291923 64292179 256 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


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