AutismKB 2.0

Annotation Detail for CFP


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Basic Information Top
Gene Symbol:CFP ( BFD,PFC,PFD,PROPERDIN )
Gene Full Name: complement factor properdin
Band: Xp11.23
Quick LinksEntrez ID:5199; OMIM: 300383; Uniprot ID:PROP_HUMAN; ENSEMBL ID: ENSG00000126759; HGNC ID: 8864
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
83C-linked (Man).
86C-linked (Man).
92O-linked (Fuc...).
139C-linked (Man).
142C-linked (Man).
145C-linked (Man).
151O-linked (Fuc...).
196C-linked (Man).
199C-linked (Man).
208O-linked (Fuc...).
260C-linked (Man).
263C-linked (Man).
272O-linked (Fuc...).
321C-linked (Man).
324C-linked (Man).
382C-linked (Man).
385C-linked (Man).
388C-linked (Man).
428N-linked (GlcNAc...).
Location(AA) Modifications Resource
83C-linked (Man).Swiss-Prot 53.0
83C-linkedOGlycBase6.0
86C-linked (Man).Swiss-Prot 53.0
86C-linkedOGlycBase6.0
92O-linked (Fuc...).Swiss-Prot 53.0
139C-linkedOGlycBase6.0
139C-linked (Man).Swiss-Prot 53.0
142C-linkedOGlycBase6.0
142C-linked (Man).Swiss-Prot 53.0
145C-linked (Man).Swiss-Prot 53.0
145C-linkedOGlycBase6.0
151O-linked (Fuc...).Swiss-Prot 53.0
196C-linked (Man).Swiss-Prot 53.0
196C-linkedOGlycBase6.0
199C-linked (Man).Swiss-Prot 53.0
199C-linkedOGlycBase6.0
208O-linked (Fuc...).Swiss-Prot 53.0
260C-linkedOGlycBase6.0
260C-linked (Man).Swiss-Prot 53.0
263C-linkedOGlycBase6.0
263C-linked (Man).Swiss-Prot 53.0
272O-linked (Fuc...).Swiss-Prot 53.0
321C-linkedOGlycBase6.0
321C-linked (Man).Swiss-Prot 53.0
324C-linkedOGlycBase6.0
324C-linked (Man).Swiss-Prot 53.0
382C-linkedOGlycBase6.0
382C-linked (Man).Swiss-Prot 53.0
385C-linkedOGlycBase6.0
385C-linked (Man).Swiss-Prot 53.0
388C-linked (Man).Swiss-Prot 53.0
388C-linkedOGlycBase6.0
428N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
75S-palmitoylHMM predict
77Phosphoserine(CDC2)HMM predict
83C-linkedHMM predict
86C-linkedHMM predict
139C-linkedHMM predict
142C-linkedHMM predict
145C-linkedHMM predict
196C-linkedHMM predict
199C-linkedHMM predict
202C-linkedHMM predict
205S-palmitoylHMM predict
206O-linkedHMM predict
219Phosphothreonine(PKC)HMM predict
225Phosphoserine(PKG)HMM predict
230Phosphoserine(ATM)HMM predict
230O-linkedHMM predict
260C-linkedHMM predict
263C-linkedHMM predict
267O-linkedHMM predict
308O-linkedHMM predict
318C-linkedHMM predict
321C-linkedHMM predict
324C-linkedHMM predict
382C-linkedHMM predict
385C-linkedHMM predict
388C-linkedHMM predict
395S-palmitoylHMM predict
398N-linkedHMM predict
419O-linkedHMM predict
428N-linkedHMM predict
461CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002621
  • Location:chrX 47368571-47374647
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47376625 47376759 134 2045
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 47367999 47368447 448 349
hScc1 BcellGSE12603 47367961 47368275 314 454
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 47373535 47373682 147 0
CTCF CD4SISSRdata 47373535 47373682 147 0
CTCF G2GSE9613 47370412 47372031 1619 0
CTCF G2GSE9613 47372533 47372780 247 0
NFkBII GM12878GSE19485 47372517 47374003 1486 0
Rb GrowingGSE19898 47373949 47374046 97 0
TFAP2C MCF7GSE21234 47373356 47373852 496 0
hScc1 G2GSE9613 47370213 47370637 424 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