AutismKB 2.0

Annotation Detail for F8


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Basic Information Top
Gene Symbol:F8 ( AHF,DXS1253E,F8B,F8C,FVIII,HEMA )
Gene Full Name: coagulation factor VIII, procoagulant component
Band: Xq28
Quick LinksEntrez ID:2157; OMIM: 306700; Uniprot ID:FA8_HUMAN; ENSEMBL ID: ENSG00000185010; HGNC ID: 3546
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
60N-linked (GlcNAc...) (Potential).
258N-linked (GlcNAc...) (Potential).
365Sulfotyrosine.
601N-linked (GlcNAc...).
737Sulfotyrosine.
738Sulfotyrosine.
742Sulfotyrosine.
776N-linked (GlcNAc...) (Potential).
803N-linked (GlcNAc...) (Potential).
847N-linked (GlcNAc...) (Potential).
919N-linked (GlcNAc...) (Potential).
962N-linked (GlcNAc...) (Potential).
982N-linked (GlcNAc...) (Potential).
1020N-linked (GlcNAc...) (Potential).
1024N-linked (GlcNAc...) (Potential).
1074N-linked (GlcNAc...) (Potential).
1085N-linked (GlcNAc...) (Potential).
1204N-linked (GlcNAc...) (Potential).
1274N-linked (GlcNAc...) (Potential).
1278N-linked (GlcNAc...) (Potential).
1301N-linked (GlcNAc...) (Potential).
1319N-linked (GlcNAc...) (Potential).
1431N-linked (GlcNAc...) (Potential).
1461N-linked (GlcNAc...) (Potential).
1683Sulfotyrosine.
1699Sulfotyrosine.
1829N-linked (GlcNAc...) (Potential).
2137N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
60N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
258N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
365Sulfotyrosine.Swiss-Prot 53.0
414Sulfotyrosine (Probable).Swiss-Prot 53.0
426Sulfotyrosine (Probable).Swiss-Prot 53.0
601N-linked (GlcNAc...).Swiss-Prot 53.0
737Sulfotyrosine.Swiss-Prot 53.0
738Sulfotyrosine.Swiss-Prot 53.0
742Sulfotyrosine.Swiss-Prot 53.0
776N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
803N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
847N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
919N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
962N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
982N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1020N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1024N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1074N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1085N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1204N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1274N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1278N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1301N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1319N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1431N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1461N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1683Sulfotyrosine.Swiss-Prot 53.0
1699Sulfotyrosine.Swiss-Prot 53.0
1829N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2137N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
12S-palmitoylHMM predict
100Phosphotyrosine(Abl)HMM predict
133SulfotyrosineHMM predict
258N-linkedHMM predict
329S-palmitoylHMM predict
365Phosphotyrosine(Syk)HMM predict
365SulfotyrosineHMM predict
426Phosphotyrosine(Syk)HMM predict
601N-linkedHMM predict
737SulfotyrosineHMM predict
738SulfotyrosineHMM predict
742Phosphotyrosine(Syk)HMM predict
742Phosphotyrosine(INSR)HMM predict
760Phosphoserine(IKK)HMM predict
769Phosphoserine(PKB)HMM predict
776N-linkedHMM predict
803N-linkedHMM predict
825Phosphoserine(ATM)HMM predict
832Phosphotyrosine(EGFR)HMM predict
840Phosphoserine(ATM)HMM predict
898Phosphoserine(CK2)HMM predict
919N-linkedHMM predict
920O-linkedHMM predict
921O-linkedHMM predict
922O-linkedHMM predict
932SulfotyrosineHMM predict
946Phosphoserine(CDC2)HMM predict
958Phosphoserine(CK1)HMM predict
974Phosphoserine(ATM)HMM predict
982N-linkedHMM predict
985Phosphoserine(CK1)HMM predict
1020N-linkedHMM predict
1024N-linkedHMM predict
1025N-linkedHMM predict
1029N-linkedHMM predict
1074N-linkedHMM predict
1085N-linkedHMM predict
1204N-linkedHMM predict
1205N-linkedHMM predict
1208N-linkedHMM predict
1274N-linkedHMM predict
1278N-linkedHMM predict
1301N-linkedHMM predict
1319N-linkedHMM predict
1321Phosphoserine(ATM)HMM predict
1324N-linkedHMM predict
1367Phosphothreonine(MAPK)HMM predict
1398Phosphoserine(IKK)HMM predict
1398Phosphoserine(CAMK2)HMM predict
1403N-linkedHMM predict
1405Phosphoserine(CDC2)HMM predict
1431N-linkedHMM predict
1490Phosphothreonine(PKC)HMM predict
1530Phosphoserine(IKK)HMM predict
1531N-linkedHMM predict
1576Phosphothreonine(CDK)HMM predict
1576Phosphothreonine(MAPK)HMM predict
1576Phosphothreonine(CDC2)HMM predict
1605Phosphoserine(CDC2)HMM predict
1605Phosphoserine(CDK)HMM predict
1605Phosphoserine(IKK)HMM predict
1656Phosphoserine(ATM)HMM predict
1673Phosphothreonine(PKA)HMM predict
1683SulfotyrosineHMM predict
1699Phosphotyrosine(Syk)HMM predict
1699SulfotyrosineHMM predict
1704N-linkedHMM predict
1709Phosphoserine(CDK)HMM predict
1733Phosphoserine(ATM)HMM predict
1743Phosphoserine(PKG)HMM predict
1745Phosphoserine(ATM)HMM predict
1761Phosphoserine(IKK)HMM predict
1803Phosphoserine(IKK)HMM predict
1829N-linkedHMM predict
1983Phosphothreonine(PKC)HMM predict
1990Phosphotyrosine(Syk)HMM predict
2062SulfotyrosineHMM predict
2118Phosphoserine(ATM)HMM predict
2133Phosphothreonine(PKC)HMM predict
2137N-linkedHMM predict
2284Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000132
  • Location:chrX 153717263-153904191
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 153799512 153799675 163 0
CTCF CD4GSE12889 153862382 153862670 288 0
CTCF CD4SISSRdata 153799512 153799675 163 0
CTCF CD4SISSRdata 153862382 153862670 288 0
CTCF JurkatGSE12889 153862384 153862564 180 0
CTCF G2GSE9613 153862448 153862593 145 0
CTCF G2GSE9613 153887609 153887973 364 0
CTCF G2GSE9613 153890039 153890241 202 0
ER Fulvestrant-MCF7GSE14664 153802495 153802541 46 0
ER MCF7GSE19013 153869258 153870461 1203 0
FoxA1 MCF7MACSdata 153869417 153869785 368 0
Myc K562GSE19551 153862390 153862721 331 0
Oct1 H2O2-HelaGSE14283 153808980 153809016 36 0
Oct1 HelaGSE14283 153800766 153800800 34 0
Oct1 HelaGSE14283 153808975 153809016 41 0
Oct1 HelaGSE14283 153886308 153886339 31 0
hScc1 BcellGSE12603 153890039 153890241 202 0
hScc1 CdLSGSE12603 153862448 153862956 508 0
hScc1 CdLSGSE12603 153868743 153868906 163 0
hScc1 G2GSE9613 153862448 153862956 508 0
hScc1 G2GSE9613 153887647 153887973 326 0
hScc1 G2GSE9613 153889735 153890241 506 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


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