AutismKB 2.0

Annotation Detail for HPS5


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Basic Information Top
Gene Symbol:HPS5 ( AIBP63,KIAA1017 )
Gene Full Name: Hermansky-Pudlak syndrome 5
Band: 11p15.1
Quick LinksEntrez ID:11234; OMIM: 607521; Uniprot ID:HPS5_HUMAN; ENSEMBL ID: ENSG00000110756; HGNC ID: 17022
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
461Phosphoserine.
534Phosphoserine.
562Phosphothreonine.
563Phosphoserine.
695Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
89Phosphotyrosine(Syk)HMM predict
89Phosphotyrosine(EGFR)HMM predict
116Phosphotyrosine(EGFR)HMM predict
127Phosphothreonine(PKA)HMM predict
265Phosphoserine(PKA)HMM predict
280Phosphotyrosine(SRC)HMM predict
287Phosphoserine(ATM)HMM predict
392Phosphothreonine(PKA)HMM predict
436Phosphoserine(CK1)HMM predict
437Phosphoserine(PKG)HMM predict
437Phosphoserine(PKA)HMM predict
437Phosphoserine(PKB)HMM predict
437Phosphoserine(IKK)HMM predict
437Phosphoserine(CK1)HMM predict
445Phosphoserine(CK1)HMM predict
461Phosphoserine(IKK)HMM predict
461Phosphoserine(PKG)HMM predict
461Phosphoserine(ATM)HMM predict
461PhosphoserineHMM predict
461Phosphoserine(CAMK2)HMM predict
463PhosphoserineHMM predict
463Phosphoserine(ATM)HMM predict
463Phosphoserine(CK2)HMM predict
469Phosphoserine(CK1)HMM predict
505N-linkedHMM predict
518N-linkedHMM predict
532Phosphoserine(CDC2)HMM predict
532Phosphoserine(CDK)HMM predict
534Phosphoserine(CDC2)HMM predict
545Phosphoserine(PKG)HMM predict
554Phosphothreonine(PKC)HMM predict
594Phosphothreonine(CK2)HMM predict
602Phosphoserine(MAPK)HMM predict
602Phosphoserine(CDC2)HMM predict
677N-linkedHMM predict
705PhosphothreonineHMM predict
712Phosphoserine(CDC2)HMM predict
797Phosphoserine(PKG)HMM predict
799Phosphoserine(IKK)HMM predict
822Phosphotyrosine(SRC)HMM predict
822Phosphotyrosine(Syk)HMM predict
822Phosphotyrosine(INSR)HMM predict
822PhosphotyrosineHMM predict
938O-linkedHMM predict
944Phosphotyrosine(Jak)HMM predict
944Phosphotyrosine(Syk)HMM predict
949Phosphoserine(IKK)HMM predict
977Phosphothreonine(PKA)HMM predict
1050N-linkedHMM predict
1054Phosphoserine(ATM)HMM predict
1111AlanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007216
  • Location:chr11 18256792-18300296
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
HIF1 HypoHepG2 18300140 18300850 710 199
HIF1 NormHepG2 18300109 18300850 741 183
Nanog ESGSE20650 18300150 18300831 681 194
Pol2 GM12878GSE19551 18299817 18301073 1256 149
Rb GrowingGSE19898 18300209 18300644 435 130
Rb QuiescentGSE19898 18300210 18300756 546 187
Rb SenescentGSE19898 18300117 18300855 738 190
Rb shRbQuiescentGSE19898 18300119 18300798 679 162
Rb shRbSenescenceGSE19898 18300201 18300721 520 165
hScc1 CdLSGSE12603 18300073 18300850 777 165
p130 SenescentGSE19898 18299944 18300840 896 96
p130 shRbQuiescentGSE19898 18300068 18300834 766 155
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 18299672 18300872 1200 0
GATA3 MCF7GSE15244 18299848 18300514 666 0
H3K4me2 HCT116GSE10453 18299139 18300218 1079 0
H3K4me3 colorectalcancer 18299530 18300109 579 0
H3ac HepG2E 18297141 18298403 1262 0
H3ac HepG2E 18299069 18300446 1377 0
RARA MCF7GSE15244 18299778 18300476 698 0
RARG MCF7GSE15244 18299848 18300476 628 0
TAF HelaGSE8489 18299139 18300364 1225 0
TAF k562GSE8489 18299331 18300414 1083 0
TFAP2C MCF7GSE21234 18291297 18291696 399 0
USF1 HepG2E 18297141 18298403 1262 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