AutismKB 2.0

Annotation Detail for HGS


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HGS ( HRS,Vps27,ZFYVE8 )
Gene Full Name: hepatocyte growth factor-regulated tyrosine kinase substrate
Band: 17q25.3
Quick LinksEntrez ID:9146; OMIM: 604375; Uniprot ID:HGS_HUMAN; ENSEMBL ID: ENSG00000185359; HGNC ID: 4897
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
132Phosphotyrosine.
207N6-acetyllysine.
216Phosphotyrosine.
240Phosphoserine.
286Phosphotyrosine.
289Phosphotyrosine.
308Phosphotyrosine.
329Phosphotyrosine (By similarity).
334Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
216Phosphotyrosine.Swiss-Prot 53.0
216PhosphotyrosinePhospho.ELM 6.0
308Phosphotyrosine.Swiss-Prot 53.0
329Phosphotyrosine (By similarity).Swiss-Prot 53.0
329Phosphotyrosine (EGFR)Phospho.ELM 6.0
334Phosphotyrosine (By similarity).Swiss-Prot 53.0
334PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
88Phosphothreonine(PKC)HMM predict
125Phosphotyrosine(SRC)HMM predict
177Phosphothreonine(PKC)HMM predict
190S-palmitoylHMM predict
240Phosphoserine(CDC2)HMM predict
240Phosphoserine(MAPK)HMM predict
243Phosphoserine(ATM)HMM predict
246Phosphoserine(IKK)HMM predict
270Phosphoserine(ATM)HMM predict
272Phosphoserine(CK2)HMM predict
299O-linkedHMM predict
306Phosphoserine(CK1)HMM predict
308Phosphotyrosine(INSR)HMM predict
308Phosphotyrosine(Abl)HMM predict
309Phosphoserine(CK1)HMM predict
310Phosphoserine(CDC2)HMM predict
310O-linkedHMM predict
310Phosphoserine(CDK)HMM predict
310PhosphoserineHMM predict
345Phosphoserine(CDC2)HMM predict
345PhosphoserineHMM predict
345Phosphoserine(IKK)HMM predict
345O-linkedHMM predict
349O-linkedHMM predict
381Phosphoserine(ATM)HMM predict
381Phosphoserine(IKK)HMM predict
387O-linkedHMM predict
445Phosphoserine(IKK)HMM predict
467SulfotyrosineHMM predict
524Phosphotyrosine(Syk)HMM predict
524Phosphotyrosine(Jak)HMM predict
588Phosphoserine(IKK)HMM predict
592O-linkedHMM predict
594Phosphoserine(CDC2)HMM predict
598Phosphoserine(CK1)HMM predict
610Phosphoserine(ATM)HMM predict
624O-linkedHMM predict
657O-linkedHMM predict
657Phosphoserine(MAPK)HMM predict
661Phosphoserine(CK1)HMM predict
661O-linkedHMM predict
661O-linkedHMM predict
666O-linkedHMM predict
668O-linkedHMM predict
686O-linkedHMM predict
686Phosphoserine(ATM)HMM predict
699Phosphoserine(ATM)HMM predict
709Phosphotyrosine(Syk)HMM predict
720Phosphoserine(ATM)HMM predict
724Phosphoserine(IKK)HMM predict
745O-linkedHMM predict
745Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004712
  • Location:chr17 77261424-77279549
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 77260624 77262168 1544 29
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 77279862 77280088 226 426
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 77261443 77261819 376 0
CTCF G2GSE9613 77266301 77266801 500 0
CTCF G2GSE9613 77272212 77272503 291 0
CTCF G2GSE9613 77277921 77278978 1057 0
H3ac HepG2E 77261958 77262843 885 0
PHF8 Hs68minusFBSGSE20725 77260648 77262297 1649 0
PHF8 Hs68plusFBSGSE20725 77260417 77262994 2577 0
hScc1 BcellGSE12603 77261514 77261855 341 0
hScc1 BcellGSE12603 77278978 77279193 215 0
hScc1 CdLSGSE12603 77261205 77261748 543 0
p130 shRbQuiescentGSE19898 77262047 77262749 702 0
p130 shRbSenescentGSE19898 77262479 77262940 461 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-296-3p hsa-mir-296 20 21138272
hsa-miR-296-3p hsa-mir-296 20 18977327
hsa-miR-296-5p hsa-mir-296 20 21138272
hsa-miR-296-5p hsa-mir-296 20 18977327
No data
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
11753 mRNA HGS chr17 77261424 77279550 608 mRNA chr17 77278759 77280735Sense/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