AutismKB 2.0

Annotation Detail for HPS6


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Basic Information Top
Gene Symbol:HPS6 ( FLJ22501,MGC20522,RP11-302K17.1 )
Gene Full Name: Hermansky-Pudlak syndrome 6
Band: 10q24.32
Quick LinksEntrez ID:79803; OMIM: 607522; Uniprot ID:HPS6_HUMAN; ENSEMBL ID: ENSG00000166189; HGNC ID: 18817
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
6Phosphothreonine(PKC)HMM predict
6Phosphothreonine(PKA)HMM predict
37Phosphoserine(CDC2)HMM predict
152O-linkedHMM predict
154Phosphoserine(CDC2)HMM predict
205O-linkedHMM predict
207O-linkedHMM predict
263Phosphoserine(CDC2)HMM predict
276Phosphothreonine(CDK)HMM predict
422Phosphothreonine(MAPK)HMM predict
537Phosphoserine(ATM)HMM predict
571S-palmitoylHMM predict
573S-palmitoylHMM predict
720O-linkedHMM predict
720Phosphothreonine(MAPK)HMM predict
765O-linkedHMM predict
766Phosphothreonine(MAPK)HMM predict
766Phosphothreonine(CDC2)HMM predict
766Phosphothreonine(CDK)HMM predict
770Phosphothreonine(MAPK)HMM predict
770Phosphothreonine(CDK)HMM predict
771ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024747
  • Location:chr10 103815136-103817781
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 103805129 103806602 1473 9271
ETS1 JurkatGSE17954 103814447 103815630 1183 98
H3K4me2 HCT116GSE10453 103804165 103804421 256 10844
H3ac HepG2E 103802286 103803380 1094 12304
H3ac HepG2E 103804165 103804421 256 10844
Nanog hESGSE18292 103797078 103797238 160 17979
P300 T0-glioblastomaGSE21026 103805533 103806534 1001 9103
P300 T30-glioblastomaGSE21026 103805510 103806560 1050 9102
Rb GrowingGSE19898 103805913 103806047 134 9157
Rb SenescentGSE19898 103805839 103806156 317 9139
Rb shRbSenescenceGSE19898 103805834 103806069 235 9185
TAF HelaGSE8489 103813817 103814307 490 1075
USF1 HepG2E 103809448 103810002 554 5412
hScc1 BcellGSE12603 103805656 103806074 418 9272
hScc1 CdLSGSE12603 103805089 103806130 1041 9527
hScc1 G2GSE9613 103805407 103806074 667 9396
p130 QuiescentGSE19898 103805335 103805694 359 9622
p130 SenescentGSE19898 103805840 103806336 496 9049
p130 shRbQuiescentGSE19898 103805238 103805772 534 9632
p130 shRbQuiescentGSE19898 103805859 103806391 532 9012
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 103822731 103822957 226 5063
CTCF CD4SISSRdata 103822731 103822957 226 5063
Fos K562GSE19551 103822595 103823058 463 5045
hScc1 BcellGSE12603 103822570 103823049 479 5028
hScc1 BcellGSE12603 103826196 103826361 165 8497
hScc1 CdLSGSE12603 103822570 103823147 577 5077
hScc1 G2GSE9613 103822570 103823006 436 5007
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 103814731 103815878 1147 0
PHF8 Hs68plusFBSGSE20725 103814586 103815958 1372 0
hScc1 BcellGSE12603 103815517 103815985 468 0
hScc1 BcellGSE12603 103817120 103817487 367 0
p130 SenescentGSE19898 103817081 103817239 158 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