AutismKB 2.0

Annotation Detail for VWF


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Basic Information Top
Gene Symbol:VWF ( F8VWF,VWD )
Gene Full Name: von Willebrand factor
Band: 12p13.31
Quick LinksEntrez ID:7450; OMIM: 613160; Uniprot ID:VWF_HUMAN; ENSEMBL ID: ENSG00000110799; HGNC ID: 12726
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
99N-linked (GlcNAc...) (Potential).
156N-linked (GlcNAc...) (Potential).
211N-linked (GlcNAc...) (Potential).
666N-linked (GlcNAc...) (Potential).
857N-linked (GlcNAc...).
1147N-linked (GlcNAc...); atypical.
1231N-linked (GlcNAc...).
1248O-linked (GalNAc...) (Probable).
1255O-linked (GalNAc...) (Probable).
1256O-linked (GalNAc...) (Probable).
1263O-linked (GalNAc...) (Probable).
1468O-linked (GalNAc...) (Probable).
1477O-linked (GalNAc...) (Probable).
1486O-linked (GalNAc...) (Probable).
1487O-linked (GalNAc...) (Probable).
1515N-linked (GlcNAc...).
1574N-linked (GlcNAc...).
1679O-linked (GalNAc...) (Probable).
2223N-linked (GlcNAc...).
2290N-linked (GlcNAc...).
2298O-linked (GalNAc...) (Probable).
2357N-linked (GlcNAc...).
2400N-linked (GlcNAc...).
2509Cell attachment site.
2546N-linked (GlcNAc...).
2585N-linked (GlcNAc...).
2790N-linked (GlcNAc...).
Location(AA) Modifications Resource
857N-linked (GlcNAc...).Swiss-Prot 53.0
857N-likedOGlycBase6.0
1147N-linked (GlcNAc...); atypical.Swiss-Prot 53.0
1147N-likedOGlycBase6.0
1231N-likedOGlycBase6.0
1231N-linked (GlcNAc...).Swiss-Prot 53.0
1248O-linkedOGlycBase6.0
1248O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1255O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1255O-linkedOGlycBase6.0
1256O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1256O-linkedOGlycBase6.0
1263O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1263O-linkedOGlycBase6.0
1468O-linkedOGlycBase6.0
1468O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1477O-linkedOGlycBase6.0
1477O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1486O-linkedOGlycBase6.0
1486O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1487O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1487O-linkedOGlycBase6.0
1515N-likedOGlycBase6.0
1515N-linked (GlcNAc...).Swiss-Prot 53.0
1574N-linked (GlcNAc...).Swiss-Prot 53.0
1574N-likedOGlycBase6.0
1679O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
1679O-linkedOGlycBase6.0
2223N-likedOGlycBase6.0
2223N-linked (GlcNAc...).Swiss-Prot 53.0
2290N-likedOGlycBase6.0
2290N-linked (GlcNAc...).Swiss-Prot 53.0
2298O-linkedOGlycBase6.0
2298O-linked (GalNAc...) (Probable).Swiss-Prot 53.0
2357N-linked (GlcNAc...).Swiss-Prot 53.0
2357N-likedOGlycBase6.0
2400N-likedOGlycBase6.0
2400N-linked (GlcNAc...).Swiss-Prot 53.0
2546N-linked (GlcNAc...).Swiss-Prot 53.0
2546N-likedOGlycBase6.0
2585N-linked (GlcNAc...).Swiss-Prot 53.0
2585N-likedOGlycBase6.0
2790N-linked (GlcNAc...).Swiss-Prot 53.0
2790N-likedOGlycBase6.0
Location(AA) Modification Resource
32Phosphothreonine(PKC)HMM predict
83Phosphoserine(PKG)HMM predict
99N-linkedHMM predict
156N-linkedHMM predict
306Phosphoserine(IKK)HMM predict
350S-palmitoylHMM predict
445Phosphothreonine(PKC)HMM predict
493Phosphoserine(PKG)HMM predict
589Phosphoserine(CDC2)HMM predict
600Phosphoserine(PKG)HMM predict
666N-linkedHMM predict
723Phosphoserine(CK1)HMM predict
806Phosphoserine(IKK)HMM predict
808S-palmitoylHMM predict
836Phosphotyrosine(INSR)HMM predict
851S-palmitoylHMM predict
857N-linkedHMM predict
1042Phosphoserine(IKK)HMM predict
1080Phosphotyrosine(Syk)HMM predict
1208PhosphoserineHMM predict
1208Phosphoserine(CDK)HMM predict
1213Phosphothreonine(PKC)HMM predict
1215N-linkedHMM predict
1217Phosphoserine(ATM)HMM predict
1231N-linkedHMM predict
1253O-linkedHMM predict
1253Phosphoserine(MAPK)HMM predict
1289Phosphoserine(PKG)HMM predict
1328Phosphotyrosine(INSR)HMM predict
1345Phosphoserine(PKG)HMM predict
1352Phosphoserine(ATM)HMM predict
1387Phosphoserine(ATM)HMM predict
1544Phosphotyrosine(Jak)HMM predict
1574N-linkedHMM predict
1577N-linkedHMM predict
1681O-linkedHMM predict
1687Phosphoserine(ATM)HMM predict
1728Phosphothreonine(PKC)HMM predict
1932Phosphoserine(CDC2)HMM predict
1932Phosphoserine(CDK)HMM predict
2013Phosphoserine(CK1)HMM predict
2223N-linkedHMM predict
2283S-palmitoylHMM predict
2290N-linkedHMM predict
2298O-linkedHMM predict
2357N-linkedHMM predict
2382Phosphothreonine(PKC)HMM predict
2400N-linkedHMM predict
2421O-linkedHMM predict
2423O-linkedHMM predict
2494S-palmitoylHMM predict
2505Phosphoserine(CDC2)HMM predict
2510Phosphoserine(IKK)HMM predict
2510Phosphoserine(PKA)HMM predict
2523Phosphoserine(CDC2)HMM predict
2546N-linkedHMM predict
2585N-linkedHMM predict
2635N-linkedHMM predict
2636N-linkedHMM predict
2644S-palmitoylHMM predict
2660Phosphothreonine(PKC)HMM predict
2790N-linkedHMM predict
2806S-farnesylHMM predict
2807SerineHMM predict
2811S-farnesylHMM predict
2813LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000552
  • Location:chr12 5928300-6104096
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6104915 6105099 184 911
CTCF G2GSE9613 6115868 6116257 389 11966
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 5945385 5945697 312 0
CTCF CD4GSE12889 5967966 5968399 433 0
CTCF CD4GSE12889 6019323 6019836 513 0
CTCF CD4GSE12889 6042500 6042933 433 0
CTCF CD4SISSRdata 5945385 5945697 312 0
CTCF CD4SISSRdata 5967966 5968399 433 0
CTCF CD4SISSRdata 6019323 6019836 513 0
CTCF CD4SISSRdata 6042500 6042933 433 0
CTCF HelaGSE12889 5968068 5968418 350 0
CTCF JurkatGSE12889 5967988 5968406 418 0
CTCF G2GSE9613 5928253 5928568 315 0
CTCF G2GSE9613 5944205 5945916 1711 0
CTCF G2GSE9613 5947034 5947226 192 0
CTCF G2GSE9613 5948723 5949979 1256 0
CTCF G2GSE9613 5964375 5964721 346 0
CTCF G2GSE9613 5965010 5965287 277 0
CTCF G2GSE9613 5967665 5968645 980 0
CTCF G2GSE9613 5973322 5973763 441 0
CTCF G2GSE9613 5990851 5991228 377 0
CTCF G2GSE9613 5993489 5993740 251 0
CTCF G2GSE9613 5994617 5995211 594 0
CTCF G2GSE9613 5995585 5995756 171 0
CTCF G2GSE9613 5996429 5996630 201 0
CTCF G2GSE9613 5997745 5998029 284 0
CTCF G2GSE9613 5999835 6000293 458 0
CTCF G2GSE9613 6002038 6002256 218 0
CTCF G2GSE9613 6008711 6009002 291 0
CTCF G2GSE9613 6012922 6013380 458 0
CTCF G2GSE9613 6015689 6016161 472 0
CTCF G2GSE9613 6017005 6018206 1201 0
CTCF G2GSE9613 6019288 6020111 823 0
CTCF G2GSE9613 6026108 6026290 182 0
CTCF G2GSE9613 6028692 6029147 455 0
CTCF G2GSE9613 6035679 6036689 1010 0
CTCF G2GSE9613 6037883 6038139 256 0
CTCF G2GSE9613 6040929 6041088 159 0
CTCF G2GSE9613 6042221 6043192 971 0
CTCF G2GSE9613 6043598 6044406 808 0
CTCF G2GSE9613 6046910 6047252 342 0
CTCF G2GSE9613 6051117 6051259 142 0
CTCF G2GSE9613 6054536 6055186 650 0
CTCF G2GSE9613 6056751 6056910 159 0
CTCF G2GSE9613 6057596 6058115 519 0
CTCF G2GSE9613 6058540 6058722 182 0
CTCF G2GSE9613 6059069 6059282 213 0
CTCF G2GSE9613 6067271 6067534 263 0
CTCF G2GSE9613 6071189 6071515 326 0
CTCF G2GSE9613 6072988 6073424 436 0
CTCF G2GSE9613 6093818 6094251 433 0
CTCF G2GSE9613 6095439 6096414 975 0
CTCF G2GSE9613 6102636 6103375 739 0
ER Fulvestrant-MCF7GSE14664 6062515 6062560 45 0
ER MCF7GSE19013 6015984 6016381 397 0
ER MCF7GSE19013 6044418 6045229 811 0
ER MCF7GSE19013 6049068 6049521 453 0
ER MCF7GSE19013 6068069 6068636 567 0
FOXA1 DLD1GSE12801 6050107 6051016 909 0
FOXA1 DLD1GSE12801 6051719 6052271 552 0
FOXA1 DLD1GSE12801 6089505 6090087 582 0
FOXA1 MCF7GSE15244 6035818 6035990 172 0
FOXA1 MCF7GSE15244 6048787 6049233 446 0
FOXA1 MCF7GSE15244 6051583 6051982 399 0
FOXA1 MCF7GSE15244 6052594 6053617 1023 0
FOXA1 MCF7GSE15244 6059655 6060241 586 0
FOXA1 MCF7GSE15244 6065773 6066756 983 0
FOXA1 MCF7GSE15244 6068287 6069020 733 0
FOXA1 MCF7GSE15244 6091528 6092451 923 0
NRSF pAbJurkat 6036296 6036689 393 0
NRSF pAbJurkat 6043082 6043529 447 0
NRSF pAbJurkat 6054536 6054966 430 0
NRSF pAbJurkat 6093854 6094409 555 0
Oct1 H2O2-HelaGSE14283 6071101 6071129 28 0
Oct1 HelaGSE14283 6007135 6007162 27 0
Oct1 HelaGSE14283 6046908 6046936 28 0
P300 T30-glioblastomaGSE21026 6072113 6073602 1489 0
RARA MCF7GSE15244 6044592 6045159 567 0
RARA MCF7GSE15244 6048867 6049389 522 0
RARA MCF7GSE15244 6052594 6053279 685 0
RARA MCF7GSE15244 6059726 6060060 334 0
RARA MCF7GSE15244 6068185 6068909 724 0
RARA MCF7GSE15244 6091528 6092307 779 0
RARG MCF7GSE15244 6018916 6019324 408 0
RARG MCF7GSE15244 6044627 6045116 489 0
RARG MCF7GSE15244 6048787 6049233 446 0
RARG MCF7GSE15244 6049647 6050143 496 0
RARG MCF7GSE15244 6052594 6054075 1481 0
RARG MCF7GSE15244 6059691 6060267 576 0
RARG MCF7GSE15244 6068255 6068834 579 0
RARG MCF7GSE15244 6095401 6096248 847 0
Rb GrowingGSE19898 6023669 6023821 152 0
Rb shRbQuiescentGSE19898 6072505 6072773 268 0
TAF HelaGSE8489 6095439 6095894 455 0
TFAP2C MCF7GSE21234 6023512 6024156 644 0
TFAP2C MCF7GSE21234 6042457 6043309 852 0
TFAP2C MCF7GSE21234 6059439 6060153 714 0
TFAP2C MCF7GSE21234 6072432 6073203 771 0
USF1 HepG2E 6049539 6051190 1651 0
hScc1 BcellGSE12603 5944694 5945671 977 0
hScc1 BcellGSE12603 5967768 5968610 842 0
hScc1 BcellGSE12603 6017450 6017995 545 0
hScc1 BcellGSE12603 6018836 6019867 1031 0
hScc1 BcellGSE12603 6042477 6042973 496 0
hScc1 BcellGSE12603 6043822 6044363 541 0
hScc1 CdLSGSE12603 5967804 5968535 731 0
hScc1 CdLSGSE12603 6017424 6017921 497 0
hScc1 CdLSGSE12603 6019288 6019867 579 0
hScc1 CdLSGSE12603 6042477 6043082 605 0
hScc1 G2GSE9613 5945228 5945989 761 0
hScc1 G2GSE9613 5967700 5968645 945 0
hScc1 G2GSE9613 5993417 5993740 323 0
hScc1 G2GSE9613 6017212 6017886 674 0
hScc1 G2GSE9613 6019288 6019867 579 0
hScc1 G2GSE9613 6042143 6043192 1049 0
hScc1 G2GSE9613 6046910 6047252 342 0
hScc1 G2GSE9613 6054646 6055112 466 0
p130 QuiescentGSE19898 6072241 6072440 199 0
p130 SenescentGSE19898 6072576 6073280 704 0
p130 shRbQuiescentGSE19898 6053613 6054134 521 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