HIBADH (3-hydroxyisobutyrate dehydrogenase) - Rat Genome Database

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Gene: HIBADH (3-hydroxyisobutyrate dehydrogenase) Homo sapiens
Analyze
Symbol: HIBADH
Name: 3-hydroxyisobutyrate dehydrogenase
RGD ID: 732658
HGNC Page HGNC
Description: Exhibits 3-hydroxyisobutyrate dehydrogenase activity. Involved in valine catabolic process. Predicted to localize to mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3'-hydroxyisobutyrate dehydrogenase; 3-hydroxyisobutyrate dehydrogenase, mitochondrial; MGC40361; NS5ATP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl727,525,442 - 27,662,883 (-)EnsemblGRCh38hg38GRCh38
GRCh38727,525,440 - 27,662,903 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37727,565,061 - 27,702,502 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36727,531,586 - 27,669,127 (-)NCBINCBI36hg18NCBI36
Build 34727,338,302 - 27,475,842NCBI
Celera727,553,696 - 27,691,196 (-)NCBI
Cytogenetic Map7p15.2NCBI
HuRef727,445,802 - 27,583,281 (-)NCBIHuRef
CHM1_1727,565,079 - 27,702,664 (-)NCBICHM1_1
CRA_TCAGchr7v2727,616,251 - 27,753,745 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methyl-2-[4-(1,2,3,4-tetrahydronaphthalen-1-yl)phenoxy]propanoic acid  (ISO)
2-methylcholine  (EXP)
acetamide  (ISO)
acrolein  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chloroform  (ISO)
chromium trinitrate  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
dieldrin  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
erythromycin estolate  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
glafenine  (ISO)
menadione  (EXP)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
nafenopin  (ISO)
nickel atom  (EXP)
nitrogen dioxide  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
phlorizin  (ISO)
potassium chromate  (ISO)
progesterone  (ISO)
quinidine  (ISO)
resveratrol  (ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (EXP)
theophylline  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:3335502   PMID:8313870   PMID:9847074   PMID:12477932   PMID:12690205   PMID:12853948   PMID:15342556   PMID:15489334   PMID:15967462   PMID:16466957   PMID:19322201   PMID:19834535  
PMID:20877624   PMID:21873635   PMID:22990118   PMID:23423614   PMID:26344197   PMID:28380382   PMID:28514442   PMID:31536960   PMID:31586073   PMID:32296183  


Genomics

Comparative Map Data
HIBADH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl727,525,442 - 27,662,883 (-)EnsemblGRCh38hg38GRCh38
GRCh38727,525,440 - 27,662,903 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37727,565,061 - 27,702,502 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36727,531,586 - 27,669,127 (-)NCBINCBI36hg18NCBI36
Build 34727,338,302 - 27,475,842NCBI
Celera727,553,696 - 27,691,196 (-)NCBI
Cytogenetic Map7p15.2NCBI
HuRef727,445,802 - 27,583,281 (-)NCBIHuRef
CHM1_1727,565,079 - 27,702,664 (-)NCBICHM1_1
CRA_TCAGchr7v2727,616,251 - 27,753,745 (-)NCBI
Hibadh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39652,523,215 - 52,617,285 (-)NCBIGRCm39mm39
GRCm39 Ensembl652,523,213 - 52,617,374 (-)Ensembl
GRCm38652,546,230 - 52,640,300 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl652,546,228 - 52,640,389 (-)EnsemblGRCm38mm10GRCm38
MGSCv37652,496,224 - 52,590,294 (-)NCBIGRCm37mm9NCBIm37
MGSCv36652,475,808 - 52,569,878 (-)NCBImm8
Celera653,069,543 - 53,163,491 (-)NCBICelera
Cytogenetic Map6B3NCBI
Hibadh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2481,649,180 - 81,747,244 (-)NCBI
Rnor_6.0 Ensembl482,604,373 - 82,702,429 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0482,604,369 - 82,702,429 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04147,270,733 - 147,368,793 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4480,850,300 - 80,948,361 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1481,134,949 - 81,232,983 (-)NCBI
Celera476,531,774 - 76,629,846 (-)NCBICelera
Cytogenetic Map4q24NCBI
Hibadh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541029,180,184 - 29,294,315 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541029,180,411 - 29,294,273 (-)NCBIChiLan1.0ChiLan1.0
HIBADH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1727,763,021 - 27,896,598 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl727,763,021 - 27,896,598 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0728,166,127 - 28,299,845 (-)NCBIMhudiblu_PPA_v0panPan3
HIBADH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11440,672,294 - 40,780,608 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1440,673,008 - 40,780,516 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1440,103,065 - 40,211,269 (-)NCBI
ROS_Cfam_1.01440,612,124 - 40,720,480 (-)NCBI
UMICH_Zoey_3.11440,724,156 - 40,832,851 (-)NCBI
UNSW_CanFamBas_1.01440,410,011 - 40,517,904 (-)NCBI
UU_Cfam_GSD_1.01440,768,329 - 40,876,417 (-)NCBI
Hibadh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511884,907,096 - 85,008,177 (-)NCBI
SpeTri2.0NW_0049364784,118,752 - 4,219,908 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HIBADH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1844,985,425 - 45,208,347 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11844,985,410 - 45,102,171 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21849,444,226 - 49,485,380 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HIBADH
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12130,708,862 - 30,848,158 (+)NCBI
ChlSab1.1 Ensembl2130,708,943 - 30,848,332 (+)Ensembl
Hibadh
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247392,965,096 - 3,077,810 (+)NCBI

Position Markers
D7S2556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,635,178 - 27,635,262UniSTSGRCh37
Build 36727,601,703 - 27,601,787RGDNCBI36
Celera727,623,810 - 27,623,894RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,515,904 - 27,515,986UniSTS
CRA_TCAGchr7v2727,686,366 - 27,686,448UniSTS
Marshfield Genetic Map741.69RGD
Marshfield Genetic Map741.69UniSTS
Genethon Genetic Map742.1UniSTS
deCODE Assembly Map743.53UniSTS
Whitehead-YAC Contig Map7 UniSTS
GDB:1317648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,691,174 - 27,691,348UniSTSGRCh37
Build 36727,657,699 - 27,657,873RGDNCBI36
Celera727,679,748 - 27,679,922RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,571,841 - 27,572,015UniSTS
CRA_TCAGchr7v2727,742,304 - 27,742,478UniSTS
RH103301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,565,448 - 27,565,577UniSTSGRCh37
Build 36727,531,973 - 27,532,102RGDNCBI36
Celera727,554,085 - 27,554,214RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,446,191 - 27,446,320UniSTS
CRA_TCAGchr7v2727,616,640 - 27,616,769UniSTS
GeneMap99-GB4 RH Map7118.4UniSTS
G66854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,691,581 - 27,691,918UniSTSGRCh37
Build 36727,658,106 - 27,658,443RGDNCBI36
Celera727,680,155 - 27,680,492RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,572,248 - 27,572,585UniSTS
CRA_TCAGchr7v2727,742,711 - 27,743,048UniSTS
SHGC-144493  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera727,599,035 - 27,599,374RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,491,141 - 27,491,480UniSTS
CRA_TCAGchr7v2727,661,591 - 27,661,930UniSTS
TNG Radiation Hybrid Map713004.0UniSTS
SHGC-144887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,608,909 - 27,609,228UniSTSGRCh37
Build 36727,575,434 - 27,575,753RGDNCBI36
Celera727,597,531 - 27,597,850RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,489,637 - 27,489,956UniSTS
CRA_TCAGchr7v2727,660,087 - 27,660,406UniSTS
TNG Radiation Hybrid Map713061.0UniSTS
SHGC-172010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,698,315 - 27,698,636UniSTSGRCh37
Build 36727,664,840 - 27,665,161RGDNCBI36
Celera727,686,891 - 27,687,212RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,578,984 - 27,579,305UniSTS
CRA_TCAGchr7v2727,749,447 - 27,749,768UniSTS
TNG Radiation Hybrid Map713084.0UniSTS
SHGC-172278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,696,977 - 27,697,301UniSTSGRCh37
Build 36727,663,502 - 27,663,826RGDNCBI36
Celera727,685,553 - 27,685,877RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,577,646 - 27,577,970UniSTS
CRA_TCAGchr7v2727,748,109 - 27,748,433UniSTS
TNG Radiation Hybrid Map713099.0UniSTS
RH16419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,579,631 - 27,579,790UniSTSGRCh37
Build 36727,546,156 - 27,546,315RGDNCBI36
Celera727,568,253 - 27,568,412RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,460,362 - 27,460,521UniSTS
CRA_TCAGchr7v2727,630,809 - 27,630,968UniSTS
GeneMap99-GB4 RH Map7118.4UniSTS
NCBI RH Map7440.2UniSTS
GDB:1318681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,666,713 - 27,666,806UniSTSGRCh37
Build 36727,633,238 - 27,633,331RGDNCBI36
Celera727,655,323 - 27,655,416RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,547,412 - 27,547,505UniSTS
CRA_TCAGchr7v2727,717,880 - 27,717,973UniSTS
D7S2363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,674,680 - 27,674,875UniSTSGRCh37
Build 36727,641,205 - 27,641,400RGDNCBI36
Celera727,663,286 - 27,663,487RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,555,375 - 27,555,576UniSTS
CRA_TCAGchr7v2727,725,843 - 27,726,044UniSTS
Whitehead-RH Map777.1UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7432.0UniSTS
HIBADH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,570,867 - 27,570,967UniSTSGRCh37
Celera727,559,488 - 27,559,588UniSTS
HuRef727,451,599 - 27,451,699UniSTS
CRA_TCAGchr7v2727,622,044 - 27,622,144UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:813
Count of miRNA genes:480
Interacting mature miRNAs:517
Transcripts:ENST00000265395, ENST00000425715, ENST00000428288, ENST00000496814
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2439 2164 1724 624 1194 465 4348 2110 3518 415 1454 1608 174 1 1204 2785 6 2
Low 822 2 752 9 87 216 4 5 5 1 3
Below cutoff 5 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_152740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB050000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF529362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP343005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ051350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA449571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS300494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265395   ⟹   ENSP00000265395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl727,525,442 - 27,662,883 (-)Ensembl
RefSeq Acc Id: ENST00000425715   ⟹   ENSP00000390205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl727,531,254 - 27,647,756 (-)Ensembl
RefSeq Acc Id: ENST00000428288   ⟹   ENSP00000393365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl727,525,475 - 27,662,868 (-)Ensembl
RefSeq Acc Id: ENST00000496814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl727,649,224 - 27,662,857 (-)Ensembl
RefSeq Acc Id: NM_152740   ⟹   NP_689953
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38727,525,442 - 27,662,883 (-)NCBI
GRCh37727,565,059 - 27,702,620 (-)RGD
Build 36727,531,586 - 27,669,127 (-)NCBI Archive
Celera727,553,696 - 27,691,196 (-)RGD
HuRef727,445,802 - 27,583,281 (-)RGD
CHM1_1727,565,079 - 27,702,664 (-)NCBI
CRA_TCAGchr7v2727,616,251 - 27,753,745 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017011719   ⟹   XP_016867208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38727,525,440 - 27,662,903 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689953   ⟸   NM_152740
- Peptide Label: precursor
- UniProtKB: P31937 (UniProtKB/Swiss-Prot),   A0A024RA75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867208   ⟸   XM_017011719
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000390205   ⟸   ENST00000425715
RefSeq Acc Id: ENSP00000393365   ⟸   ENST00000428288
RefSeq Acc Id: ENSP00000265395   ⟸   ENST00000265395
Protein Domains
NAD_binding_11   NAD_binding_2

Promoters
RGD ID:6805765
Promoter ID:HG_KWN:56710
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000327513
Position:
Human AssemblyChrPosition (strand)Source
Build 36727,653,206 - 27,653,706 (-)MPROMDB
RGD ID:7210215
Promoter ID:EPDNEW_H10854
Type:initiation region
Name:HIBADH_1
Description:3-hydroxyisobutyrate dehydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10855  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38727,662,883 - 27,662,943EPDNEW
RGD ID:7210219
Promoter ID:EPDNEW_H10855
Type:initiation region
Name:HIBADH_2
Description:3-hydroxyisobutyrate dehydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10854  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38727,663,001 - 27,663,061EPDNEW
RGD ID:6805779
Promoter ID:HG_KWN:56712
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000214132,   OTTHUMT00000327512,   UC003SZG.1,   UC003SZH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36727,668,961 - 27,669,907 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p15.2-14.3(chr7:25511691-30421133)x1 copy number loss See cases [RCV000052310] Chr7:25511691..30421133 [GRCh38]
Chr7:25551310..30460749 [GRCh37]
Chr7:25517835..30427274 [NCBI36]
Chr7:7p15.2-14.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 copy number loss See cases [RCV000134333] Chr7:20210912..27849400 [GRCh38]
Chr7:20250535..27889019 [GRCh37]
Chr7:20217060..27855544 [NCBI36]
Chr7:7p21.1-15.2
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3
pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 copy number loss See cases [RCV000240125] Chr7:22935369..32621975 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p15.3-15.2(chr7:25448425-27578387)x3 copy number gain See cases [RCV000447735] Chr7:25448425..27578387 [GRCh37]
Chr7:7p15.3-15.2
likely pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1 copy number loss See cases [RCV000510695] Chr7:24344104..28879357 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NC_000007.13:g.23236782_30690453del7453672 deletion Silver Russell Syndrome-related disorder [RCV000785664] Chr7:23236782..30690453 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_152740.4(HIBADH):c.582dup (p.Asn195fs) duplication not provided [RCV000998781] Chr7:27543002..27543003 [GRCh38]
Chr7:27582621..27582622 [GRCh37]
Chr7:7p15.2
uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 copy number loss not provided [RCV001005924] Chr7:23877135..33139446 [GRCh37]
Chr7:7p15.3-14.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4907 AgrOrtholog
COSMIC HIBADH COSMIC
Ensembl Genes ENSG00000106049 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265395 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390205 UniProtKB/TrEMBL
  ENSP00000393365 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265395 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000425715 UniProtKB/TrEMBL
  ENST00000428288 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1040.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106049 GTEx
HGNC ID HGNC:4907 ENTREZGENE
Human Proteome Map HIBADH Human Proteome Map
InterPro 3-OH-isobutyrate_DH-rel_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6-PGluconate_DH-like_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6PGD_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6PGDH_NADP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIBADH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIBADH-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11112 ENTREZGENE
OMIM 608475 OMIM
Pfam NAD_binding_11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD_binding_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29280 PharmGKB
PIRSF HIBADH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE 3_HYDROXYISOBUT_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48179 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs HIBADH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt 3HIDH_HUMAN UniProtKB/Swiss-Prot
  A0A024RA75 ENTREZGENE, UniProtKB/TrEMBL
  F8WET2_HUMAN UniProtKB/TrEMBL
  H7BZL2_HUMAN UniProtKB/TrEMBL
  P31937 ENTREZGENE
UniProt Secondary Q546Z2 UniProtKB/Swiss-Prot
  Q9UDN3 UniProtKB/Swiss-Prot