AutismKB 2.0

Annotation Detail for HIBADH


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Basic Information Top
Gene Symbol:HIBADH ( MGC40361,NS5ATP1 )
Gene Full Name: 3-hydroxyisobutyrate dehydrogenase
Band: 7p15.2
Quick LinksEntrez ID:11112; OMIM: 608475; Uniprot ID:3HIDH_HUMAN; ENSEMBL ID: ENSG00000106049; HGNC ID: 4907
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
33O-linkedHMM predict
40Phosphothreonine(MAPK)HMM predict
88Phosphoserine(CDC2)HMM predict
170N-linkedHMM predict
245N-linkedHMM predict
257Phosphotyrosine(SRC)HMM predict
257Phosphotyrosine(Syk)HMM predict
292O-linkedHMM predict
292Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152740
  • Location:chr7 27531587-27669126
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 27683362 27684902 1540 15006
Fos K562GSE19551 27668712 27669577 865 18
FoxA1 MCF7MACSdata 27669177 27669380 203 152
KLF4 hESGSE17917 27669094 27669424 330 133
Myc K562GSE19551 27683998 27684432 434 15089
Oct1 H2O2-HelaGSE14283 27669953 27669982 29 841
Oct1 HelaGSE14283 27680613 27680641 28 11501
P300 T30-glioblastomaGSE21026 27683270 27685155 1885 15086
TAF HelaGSE8489 27677518 27677747 229 8506
TFAP2C MCF7GSE21234 27669081 27669580 499 204
p130 shRbSenescentGSE19898 27669086 27669497 411 165
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 27527193 27527341 148 4321
Oct1 HelaGSE14283 27519355 27519383 28 12219
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 27582594 27582856 262 0
CTCF CD4SISSRdata 27582594 27582856 262 0
CTCF G2GSE9613 27668827 27669212 385 0
ER E2-MCF7GSE14664 27558561 27558599 38 0
ER E2-MCF7GSE14664 27578234 27578303 69 0
Fos K562GSE19551 27615086 27615601 515 0
H3K4me3 colorectalcancer 27667802 27668737 935 0
H3ac HepG2E 27667762 27668770 1008 0
KLF4 hESGSE17917 27559428 27559763 335 0
Nanog ESGSE20650 27571001 27571572 571 0
Oct1 H2O2-HelaGSE14283 27568534 27568577 43 0
Oct1 H2O2-HelaGSE14283 27570928 27570967 39 0
Oct1 H2O2-HelaGSE14283 27593889 27593928 39 0
Oct1 H2O2-HelaGSE14283 27621390 27621428 38 0
Oct1 HelaGSE14283 27568535 27568577 42 0
Oct1 HelaGSE14283 27570928 27570967 39 0
Oct1 HelaGSE14283 27593883 27593928 45 0
Oct1 HelaGSE14283 27596058 27596097 39 0
Oct1 HelaGSE14283 27621392 27621423 31 0
Oct1 HelaGSE14283 27637174 27637215 41 0
Oct4 ESGSE20650 27570999 27571422 423 0
Oct4 hESGSE21916 27571065 27571472 407 0
P300 T30-glioblastomaGSE21026 27652674 27653916 1242 0
P300 T30-glioblastomaGSE21026 27667747 27669585 1838 0
PHF8 HeLaGSE20725 27668339 27669388 1049 0
RNAII Tamoxifen-MCF7GSE14664 27558566 27558610 44 0
TFAP2C MCF7GSE21234 27617241 27617585 344 0
hScc1 BcellGSE12603 27582557 27583269 712 0
hScc1 BcellGSE12603 27668228 27669249 1021 0
hScc1 CdLSGSE12603 27668347 27668549 202 0
p63 keratinocytesGSE17611 27561145 27562067 922 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
23794 EST chr7 27430356 27440351 9995 mRNA HIBADH chr7 27338302 27475842 Non-exonic Bidirectional (NOB) 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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