AutismKB 2.0

Annotation Detail for CFH


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Basic Information Top
Gene Symbol:CFH ( AHUS1,AMBP1,ARMD4,ARMS1,CFHL3,FH,FHL1,HF,HF1,HF2,HUS,MGC88246 )
Gene Full Name: complement factor H
Band: 1q31.3
Quick LinksEntrez ID:3075; OMIM: 134370; Uniprot ID:CFAH_HUMAN; ENSEMBL ID: ENSG00000000971; HGNC ID: 4883
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
529N-linked (GlcNAc...).
718N-linked (GlcNAc...) (Potential).
802N-linked (GlcNAc...).
822N-linked (GlcNAc...).
882N-linked (GlcNAc...) (complex).
911N-linked (GlcNAc...).
1029N-linked (GlcNAc...).
1095N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
529N-linked (GlcNAc...).Swiss-Prot 53.0
718N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
802N-linked (GlcNAc...).Swiss-Prot 53.0
822N-linked (GlcNAc...).Swiss-Prot 53.0
882N-linked (GlcNAc...).Swiss-Prot 53.0
911N-linked (GlcNAc...).Swiss-Prot 53.0
1029N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1095N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
30Phosphothreonine(PKA)HMM predict
36Phosphoserine(IKK)HMM predict
193Phosphoserine(ATM)HMM predict
217N-linkedHMM predict
219Phosphoserine(CDC2)HMM predict
222Phosphoserine(ATM)HMM predict
277Phosphotyrosine(SRC)HMM predict
310O-linkedHMM predict
312O-linkedHMM predict
379C-linkedHMM predict
451Phosphoserine(CK2)HMM predict
529N-linkedHMM predict
544O-linkedHMM predict
546Phosphoserine(IKK)HMM predict
587Phosphotyrosine(Jak)HMM predict
711SulfotyrosineHMM predict
718N-linkedHMM predict
822N-linkedHMM predict
828N-linkedHMM predict
871Phosphoserine(ATM)HMM predict
882N-linkedHMM predict
887Phosphoserine(CK1)HMM predict
911N-linkedHMM predict
933Phosphoserine(CDC2)HMM predict
938O-linkedHMM predict
949SulfotyrosineHMM predict
951SulfotyrosineHMM predict
957Phosphotyrosine(EGFR)HMM predict
1015O-linkedHMM predict
1029N-linkedHMM predict
1034N-linkedHMM predict
1079Phosphoserine(CDC2)HMM predict
1095N-linkedHMM predict
1167S-palmitoylHMM predict
1213Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000186
  • Location:chr1 194887763-194983253
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 194992986 194993017 31 9748
Oct1 HelaGSE14283 194991407 194991441 34 8171
Oct1 HelaGSE14283 194992986 194993017 31 9748
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 194959200 194959519 319 0
CTCF CD4SISSRdata 194959200 194959519 319 0
ER E2-MCF7GSE14664 194957623 194957655 32 0
ER MCF7E 194979669 194979884 215 0
FoxA1 MCF7MACSdata 194963501 194963643 142 0
Oct1 H2O2-HelaGSE14283 194944077 194944112 35 0
Oct1 HelaGSE14283 194944073 194944116 43 0
Oct1 HelaGSE14283 194957624 194957665 41 0
Oct4 hESGSE17917 194959203 194959542 339 0
hScc1 BcellGSE12603 194959520 194959838 318 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-146a hsa-mir-146a 5 19540598
hsa-miR-146a hsa-mir-146a 5 18801740
hsa-miR-146a hsa-mir-146a 5 19540598
hsa-miR-146a hsa-mir-146a 5 18801740
hsa-miR-146a hsa-mir-146a 5 19540598
hsa-miR-146a hsa-mir-146a 5 18801740
hsa-miR-146a* hsa-mir-146a 5 19540598
hsa-miR-146a* hsa-mir-146a 5 18801740
hsa-miR-146a* hsa-mir-146a 5 19540598
hsa-miR-146a* hsa-mir-146a 5 18801740
hsa-miR-146a* hsa-mir-146a 5 19540598
hsa-miR-146a* hsa-mir-146a 5 18801740
No data
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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