AutismKB 2.0

Annotation Detail for F12


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:F12 ( HAE3,HAEX,HAF )
Gene Full Name: coagulation factor XII (Hageman factor)
Band: 5q35.3
Quick LinksEntrez ID:2161; OMIM: 610619; Uniprot ID:FA12_HUMAN; ENSEMBL ID: ENSG00000131187; HGNC ID: 3530
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
109O-linked (Fuc).
249N-linked (GlcNAc...).
299O-linked (GalNAc...).
305O-linked (GalNAc...).
308O-linked (GalNAc...).
328O-linked (GalNAc...).
329O-linked (GalNAc...).
337O-linked (GalNAc...).
433N-linked (GlcNAc...).
Location(AA) Modifications Resource
109O-linked (Fuc).Swiss-Prot 53.0
109O-linkedOGlycBase6.0
249N-linked (GlcNAc...).Swiss-Prot 53.0
249N-likedOGlycBase6.0
299O-linked (GalNAc...).Swiss-Prot 53.0
305O-linked (GalNAc...).Swiss-Prot 53.0
308O-linked (GalNAc...).Swiss-Prot 53.0
328O-linked (GalNAc...).Swiss-Prot 53.0
329O-linked (GalNAc...).Swiss-Prot 53.0
337O-linked (GalNAc...).Swiss-Prot 53.0
433N-linked (GlcNAc...).Swiss-Prot 53.0
433N-likedOGlycBase6.0
Location(AA) Modification Resource
76Phosphothreonine(CDC2)HMM predict
234O-linkedHMM predict
247Phosphotyrosine(SRC)HMM predict
249N-linkedHMM predict
297Phosphothreonine(MAPK)HMM predict
305Phosphothreonine(MAPK)HMM predict
305Phosphothreonine(CDK)HMM predict
308O-linkedHMM predict
328O-linkedHMM predict
328O-linkedHMM predict
329O-linkedHMM predict
331Phosphothreonine(CDK)HMM predict
331PhosphothreonineHMM predict
331Phosphothreonine(MAPK)HMM predict
335Phosphoserine(ATM)HMM predict
337Phosphothreonine(MAPK)HMM predict
366Phosphoserine(IKK)HMM predict
366Phosphoserine(PKG)HMM predict
433N-linkedHMM predict
435Phosphoserine(IKK)HMM predict
600ThreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000505
  • Location:chr5 176761746-176769182
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 176773189 176773411 222 4118
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 176762027 176764640 2613 0
CTCF G2GSE9613 176768295 176768637 342 0
CTCF G2GSE9613 176768884 176769189 305 0
NFkBII GM18526GSE19485 176762858 176764799 1941 0
TFAP2C MCF7GSE21234 176761907 176762665 758 0
hScc1 BcellGSE12603 176762176 176764603 2427 0
hScc1 CdLSGSE12603 176762099 176764454 2355 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