AutismKB 2.0

Annotation Detail for CFHR1


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Basic Information Top
Gene Symbol:CFHR1 ( CFHL,CFHL1,CFHL1P,CFHR1P,FHR1,H36-1,H36-2,HFL1,HFL2,MGC104329 )
Gene Full Name: complement factor H-related 1
Band: 1q31.3
Quick LinksEntrez ID:3078; OMIM: 134371; Uniprot ID:FHR1_HUMAN; ENSEMBL ID: ENSG00000080910,ENSG00000244414; HGNC ID: 4888
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
126N-linked (GlcNAc...).
194N-linked (GlcNAc...).
Location(AA) Modifications Resource
126N-linked (GlcNAc...).Swiss-Prot 53.0
194N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
11O-linkedHMM predict
39Phosphotyrosine(Syk)HMM predict
57Phosphotyrosine(Syk)HMM predict
61Phosphoserine(CDK)HMM predict
61Phosphoserine(CDK)HMM predict
61Phosphoserine(CDC2)HMM predict
100Phosphoserine(CK1)HMM predict
142Phosphoserine(IKK)HMM predict
146Phosphoserine(IKK)HMM predict
178Phosphoserine(CDC2)HMM predict
194N-linkedHMM predict
266S-palmitoylHMM predict
312Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002113
  • Location:chr1 195055520-195067939
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 CdLSGSE12603 195063657 195064030 373 0
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