AutismKB 2.0

Annotation Detail for GAPVD1


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Basic Information Top
Gene Symbol:GAPVD1 ( DKFZp434C212,GAPEX5,KIAA1521,MGC138847,MGC138848,RAP6 )
Gene Full Name: GTPase activating protein and VPS9 domains 1
Band: 9q33.3
Quick LinksEntrez ID:26130; OMIM: 611714; Uniprot ID:GAPD1_HUMAN; ENSEMBL ID: ENSG00000165219; HGNC ID: 23375
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
238N6-acetyllysine.
390Phosphothreonine.
458Phosphothreonine.
466Phosphoserine.
469Phosphothreonine.
470Phosphothreonine.
566Phosphoserine.
569Phosphoserine.
742Phosphoserine.
746Phosphoserine.
747Phosphothreonine.
748Phosphoserine.
766Phosphoserine.
900Phosphoserine.
902Phosphoserine.
903Phosphoserine.
966Phosphoserine.
1019Phosphoserine.
1096Phosphoserine.
1105Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015635
  • Location:chr9 127063931-127167109
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 127063241 127064546 1305 38
hScc1 BcellGSE12603 127063544 127064015 471 152
p130 QuiescentGSE19898 127063555 127063829 274 240
p130 SenescentGSE19898 127063514 127063834 320 258
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 127176899 127177141 242 9911
CTCF CD4SISSRdata 127176899 127177141 242 9911
ER MCF7GSE19013 127178288 127178898 610 11484
hScc1 BcellGSE12603 127174717 127175235 518 7867
hScc1 BcellGSE12603 127176505 127177468 963 9877
hScc1 CdLSGSE12603 127176621 127177468 847 9935
hScc1 G2GSE9613 127176541 127177321 780 9822
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 127110714 127111271 557 0
ETS1 JurkatGSE17954 127063370 127064504 1134 0
FOXA1 MCF7GSE15244 127074725 127075768 1043 0
FOXA1 MCF7GSE15244 127099076 127099815 739 0
FOXA1 MCF7GSE15244 127110668 127111312 644 0
FOXA1 MCF7GSE15244 127131276 127131747 471 0
FOXA1 MCF7GSE15244 127132093 127132375 282 0
FoxA1 MCF7MACSdata 127074825 127075127 302 0
FoxA1 MCF7MACSdata 127099025 127099738 713 0
FoxA1 MCF7MACSdata 127110763 127111166 403 0
FoxA1 MCF7MACSdata 127131138 127131355 217 0
Gata1 K562GSE18868 127086776 127087486 710 0
Gata2 K562GSE18868 127086939 127087581 642 0
H3K4me3 colorectalcancer 127064264 127064785 521 0
H3ac HepG2E 127064229 127064785 556 0
HIF1 HypoHepG2 127075768 127075989 221 0
Myc K562GSE19551 127086494 127087400 906 0
Myc K562GSE19551 127163906 127164342 436 0
Nanog ESGSE20650 127073814 127074096 282 0
Nanog hESGSE18292 127145359 127146397 1038 0
P300 T30-glioblastomaGSE21026 127130917 127131757 840 0
RARA MCF7GSE15244 127099076 127099779 703 0
RARA MCF7GSE15244 127131276 127131747 471 0
TAF k562GSE8489 127075317 127075989 672 0
TAF k562GSE8489 127091043 127092782 1739 0
TAF k562GSE8489 127096769 127097048 279 0
USF1 HepG2E 127064290 127064678 388 0
p130 QuiescentGSE19898 127131316 127131458 142 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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