AutismKB 2.0

Annotation Detail for HIRA


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HIRA ( DGCR1,TUP1,TUPLE1 )
Gene Full Name: HIR histone cell cycle regulation defective homolog A (S. cerevisiae)
Band: 22q11.21
Quick LinksEntrez ID:7290; OMIM: 600237; Uniprot ID:HIRA_HUMAN; ENSEMBL ID: ENSG00000100084,ENSG00000242259; HGNC ID: 4916
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
538Phosphoserine.
549Phosphoserine.
551Phosphoserine.
555Phosphothreonine; by CDK2.
557Phosphoserine.
576Phosphothreonine.
584Phosphoserine.
586Phosphothreonine.
610Phosphoserine.
611Phosphoserine.
612Phosphoserine.
614Phosphoserine.
661Phosphoserine.
687Phosphoserine.
Location(AA) Modifications Resource
555Phosphothreonine (by CDK2).Swiss-Prot 53.0
555Phosphothreonine (CDK2)Phospho.ELM 6.0
687Phosphoserine.Swiss-Prot 53.0
687PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
101Phosphothreonine(PKA)HMM predict
102Phosphotyrosine(INSR)HMM predict
107O-linkedHMM predict
188Phosphotyrosine(Jak)HMM predict
191Phosphoserine(ATM)HMM predict
197Phosphoserine(CK1)HMM predict
244N-linkedHMM predict
245N-linkedHMM predict
287N-linkedHMM predict
289Phosphoserine(CDC2)HMM predict
294O-linkedHMM predict
308Phosphoserine(CK1)HMM predict
315S-palmitoylHMM predict
358Phosphoserine(ATM)HMM predict
372Phosphoserine(CK1)HMM predict
462Phosphothreonine(PKA)HMM predict
487Phosphoserine(IKK)HMM predict
497Phosphoserine(CK1)HMM predict
507Phosphoserine(IKK)HMM predict
507O-linkedHMM predict
511Phosphoserine(IKK)HMM predict
540N-linkedHMM predict
549Phosphoserine(MAPK)HMM predict
549O-linkedHMM predict
551O-linkedHMM predict
551Phosphoserine(IKK)HMM predict
570Phosphothreonine(PKC)HMM predict
583O-linkedHMM predict
584Phosphoserine(IKK)HMM predict
586Phosphothreonine(MAPK)HMM predict
612Phosphoserine(ATM)HMM predict
612Phosphoserine(CK2)HMM predict
614Phosphoserine(CK1)HMM predict
658Phosphoserine(IKK)HMM predict
687Phosphoserine(CDC2)HMM predict
703Phosphotyrosine(EGFR)HMM predict
812Phosphoserine(CK1)HMM predict
848N-linkedHMM predict
876Phosphoserine(IKK)HMM predict
876Phosphoserine(ATM)HMM predict
928Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003325
  • Location:chr22 17698223-17799218
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb QuiescentGSE19898 17799183 17799392 209 69
VDR GM10855-UnstimGSE22484 17797277 17801296 4019 68
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 17684261 17684562 301 13812
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 17786338 17788355 2017 0
CTCF G2GSE9613 17764480 17764624 144 0
H3K4me3 colorectalcancer 17797674 17798239 565 0
H3ac HepG2E 17797406 17798618 1212 0
Rb shRbSenescenceGSE19898 17742862 17743007 145 0
USF1 HepG2E 17790669 17792141 1472 0
hScc1 BcellGSE12603 17721254 17721781 527 0
hScc1 BcellGSE12603 17798275 17798898 623 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
17141 EST chr22 17693628 17713541 94 mRNA HIRA chr22 17692777 17793773Sense/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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