AutismKB 2.0

Annotation Detail for HMBOX1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HMBOX1 ( FLJ21616,HNF1LA,PBHNF )
Gene Full Name: homeobox containing 1
Band: 8p21.1-p12
Quick LinksEntrez ID:79618; OMIM: NA; Uniprot ID:HMBX1_HUMAN; ENSEMBL ID: ENSG00000147421; HGNC ID: 26137
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
49Phosphothreonine(PKC)HMM predict
66Phosphoserine(PKG)HMM predict
66Phosphoserine(PKB)HMM predict
66Phosphoserine(CAMK2)HMM predict
74N-linkedHMM predict
77N-linkedHMM predict
78N-linkedHMM predict
82O-linkedHMM predict
84O-linkedHMM predict
85O-linkedHMM predict
87O-linkedHMM predict
90O-linkedHMM predict
92O-linkedHMM predict
95O-linkedHMM predict
98O-linkedHMM predict
100Phosphoserine(CDC2)HMM predict
100Phosphoserine(ATM)HMM predict
108Phosphoserine(CDK)HMM predict
114O-linkedHMM predict
126Phosphoserine(CK1)HMM predict
148Phosphoserine(PKC)HMM predict
148Phosphoserine(IKK)HMM predict
171Phosphoserine(CAMK2)HMM predict
171Phosphoserine(PKB)HMM predict
171Phosphoserine(PKA)HMM predict
187Phosphoserine(PKG)HMM predict
253Phosphothreonine(MAPK)HMM predict
258O-linkedHMM predict
270Phosphoserine(PKA)HMM predict
372Phosphotyrosine(INSR)HMM predict
372Phosphotyrosine(Syk)HMM predict
372SulfotyrosineHMM predict
373Phosphoserine(CK2)HMM predict
378Phosphoserine(IKK)HMM predict
380Phosphoserine(CK1)HMM predict
389Phosphoserine(MAPK)HMM predict
398N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024567
  • Location:chr8 28804143-28965333
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T0-glioblastomaGSE21026 28803143 28805040 1897 52
P300 T30-glioblastomaGSE21026 28802864 28805179 2315 122
p130 SenescentGSE19898 28803020 28804661 1641 303
p130 shRbQuiescentGSE19898 28803091 28804529 1438 334
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 28917833 28918037 204 0
CTCF CD4SISSRdata 28917833 28918037 204 0
CTCF G2GSE9613 28917729 28918157 428 0
H3ac HepG2E 28804119 28805672 1553 0
Myc K562GSE19551 28880476 28880801 325 0
NFkBII GM12878GSE19485 28917108 28918928 1820 0
Nanog ESGSE20650 28938156 28938536 380 0
STAT1 HeLaGSE12783 28949620 28950542 922 0
STAT1 IFNSISSRdata 28949677 28950464 787 0
TAF HelaGSE8489 28804568 28805325 757 0
hScc1 BcellGSE12603 28804394 28804747 353 0
hScc1 BcellGSE12603 28917626 28918024 398 0
hScc1 CdLSGSE12603 28917520 28918157 637 0
hScc1 G2GSE9613 28917729 28918157 428 0
p63 keratinocytesGSE17611 28866123 28866974 851 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