AutismKB 2.0

Annotation Detail for KLRF1


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Basic Information Top
Gene Symbol:KLRF1 ( CLEC5C,MGC119907,MGC119908,MGC119909,NKp80 )
Gene Full Name: killer cell lectin-like receptor subfamily F, member 1
Band: 12p13.31
Quick LinksEntrez ID:51348; OMIM: 605029; Uniprot ID:KLRF1_HUMAN; ENSEMBL ID: ENSG00000150045; HGNC ID: 13342
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
77N-linked (GlcNAc...) (Potential).
91N-linked (GlcNAc...) (Potential).
96N-linked (GlcNAc...) (Potential).
177N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
77N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
91N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
96N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
176N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
7Phosphotyrosine(INSR)HMM predict
7Phosphotyrosine(Syk)HMM predict
19Phosphoserine(PKA)HMM predict
33Phosphothreonine(PKC)HMM predict
70S-palmitoylHMM predict
77N-linkedHMM predict
91N-linkedHMM predict
96N-linkedHMM predict
176N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016523
  • Location:chr12 9871343-9888867
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 9857990 9858398 408 13150
CTCF CD4SISSRdata 9857990 9858398 408 13150
CTCF HelaGSE12889 9858062 9858376 314 13125
CTCF JurkatGSE12889 9858057 9858348 291 13141
No data
No data
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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