AutismKB 2.0

Annotation Detail for VPS54


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Basic Information Top
Gene Symbol:VPS54 ( HCC8,SLP-8p,VPS54L,hVps54L )
Gene Full Name: vacuolar protein sorting 54 homolog (S. cerevisiae)
Band: 2p15-p14
Quick LinksEntrez ID:51542; OMIM: NA; Uniprot ID:VPS54_HUMAN; ENSEMBL ID: ENSG00000143952; HGNC ID: 18652
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
541Phosphoserine (By similarity).
Location(AA) Modifications Resource
541Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
6PhosphoserineHMM predict
8Phosphoserine(MAPK)HMM predict
8PhosphoserineHMM predict
8Phosphoserine(CDK)HMM predict
8Phosphoserine(CDC2)HMM predict
52Phosphotyrosine(Jak)HMM predict
120Phosphotyrosine(EGFR)HMM predict
125Phosphoserine(ATM)HMM predict
237Phosphoserine(ATM)HMM predict
244Phosphotyrosine(EGFR)HMM predict
249Phosphoserine(PKA)HMM predict
249Phosphoserine(PKG)HMM predict
422Phosphoserine(PKG)HMM predict
493Phosphoserine(ATM)HMM predict
528Phosphothreonine(MAPK)HMM predict
539N-linkedHMM predict
541Phosphoserine(PKB)HMM predict
541Phosphoserine(CDC2)HMM predict
543N-linkedHMM predict
549Phosphoserine(CK1)HMM predict
553Phosphoserine(IKK)HMM predict
558O-linkedHMM predict
563Phosphoserine(CK1)HMM predict
563Phosphoserine(CK2)HMM predict
564O-linkedHMM predict
564Phosphoserine(CK1)HMM predict
568O-linkedHMM predict
569Phosphoserine(CK2)HMM predict
570O-linkedHMM predict
588Phosphothreonine(CK2)HMM predict
658Phosphothreonine(PKA)HMM predict
666Phosphoserine(ATM)HMM predict
739Phosphotyrosine(Abl)HMM predict
739Phosphotyrosine(Syk)HMM predict
874Phosphoserine(CK1)HMM predict
895Phosphothreonine(PKA)HMM predict
962LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001005739
  • Location:chr2 63973171-64099717
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 64099277 64100465 1188 154
FOXA1 MCF7GSE15244 64102139 64102702 563 2703
FoxA1 MCF7MACSdata 64102291 64102638 347 2747
H3ac HepG2E 64100292 64100863 571 860
PHF8 293TGSE20725 64099162 64100378 1216 53
PHF8 HeLaGSE20725 64098966 64100485 1519 8
PHF8 Hs68minusFBSGSE20725 64098906 64100659 1753 65
PHF8 Hs68plusFBSGSE20725 64098944 64100733 1789 121
TAF k562GSE8489 64100465 64101257 792 1144
hScc1 G2GSE9613 64099066 64100465 1399 48
p130 QuiescentGSE19898 64100114 64100278 164 479
p130 SenescentGSE19898 64100182 64100551 369 649
p130 shRbSenescentGSE19898 64100111 64100259 148 468
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 64062234 64062773 539 0
FoxA1 MCF7MACSdata 64062316 64062631 315 0
FoxA1 MCF7MACSdata 64064870 64065150 280 0
H3K4me3 colorectalcancer 64098004 64099361 1357 0
H3ac HepG2E 64065997 64066407 410 0
H3ac HepG2E 64098276 64099466 1190 0
Myc K562GSE19551 64093763 64093972 209 0
SRF k562GSE8489 64050428 64050813 385 0
TAF HelaGSE8489 64098004 64099244 1240 0
TAF k562GSE8489 64050428 64050752 324 0
TAF k562GSE8489 64098004 64099401 1397 0
USF2 HepG2E 64065997 64066282 285 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
14352 EST chr2 64058689 64090188 91 mRNA VPS54 chr2 64031317 64157865Sense/Antisense (SA) pairs

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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