AUH (AU RNA binding methylglutaconyl-CoA hydratase) - Rat Genome Database

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Gene: AUH (AU RNA binding methylglutaconyl-CoA hydratase) Homo sapiens
Analyze
Symbol: AUH
Name: AU RNA binding methylglutaconyl-CoA hydratase
RGD ID: 1314501
HGNC Page HGNC
Description: Exhibits enoyl-CoA hydratase activity and mRNA 3'-UTR binding activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to localize to mitochondrion. Implicated in 3-methylglutaconic aciduria type 1 and renal tubular transport disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-methylglutaconyl-CoA hydratase; AU RNA binding protein/enoyl-CoA hydratase; AU RNA binding protein/enoyl-Coenzyme A hydratase; AU RNA-binding protein/enoyl-Coenzyme A hydratase; AU-binding protein/Enoyl-CoA hydratase; AU-specific RNA-binding enoyl-CoA hydratase; itaconyl-CoA hydratase; methylglutaconyl-CoA hydratase, mitochondrial
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 Ensembl991,213,815 - 91,361,918 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl991,213,815 - 91,361,913 (-)EnsemblGRCh38hg38GRCh38
GRCh38991,213,823 - 91,361,945 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37993,976,105 - 94,124,200 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36993,015,926 - 93,163,996 (-)NCBINCBI36hg18NCBI36
Build 34991,055,663 - 91,203,730NCBI
Celera964,410,745 - 64,558,849 (-)NCBI
Cytogenetic Map9q22.31NCBI
HuRef963,656,405 - 63,804,572 (-)NCBIHuRef
CHM1_1994,122,573 - 94,270,721 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:7892223   PMID:8889548   PMID:9108262   PMID:10072761   PMID:11076863   PMID:11738050   PMID:12477932   PMID:12655555   PMID:14702039   PMID:15033206   PMID:15489334   PMID:15489336  
PMID:16344560   PMID:16381901   PMID:16640564   PMID:18831052   PMID:18978678   PMID:20877624   PMID:21150874   PMID:21840233   PMID:21873635   PMID:24598254   PMID:26186194   PMID:28514442  
PMID:28604741   PMID:30021884   PMID:31536960   PMID:32877691  


Genomics

Comparative Map Data
AUH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl991,213,815 - 91,361,918 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl991,213,815 - 91,361,913 (-)EnsemblGRCh38hg38GRCh38
GRCh38991,213,823 - 91,361,945 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37993,976,105 - 94,124,200 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36993,015,926 - 93,163,996 (-)NCBINCBI36hg18NCBI36
Build 34991,055,663 - 91,203,730NCBI
Celera964,410,745 - 64,558,849 (-)NCBI
Cytogenetic Map9q22.31NCBI
HuRef963,656,405 - 63,804,572 (-)NCBIHuRef
CHM1_1994,122,573 - 94,270,721 (-)NCBICHM1_1
Auh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391352,989,143 - 53,083,742 (-)NCBIGRCm39mm39
GRCm39 Ensembl1352,989,155 - 53,083,717 (-)Ensembl
GRCm381352,835,107 - 52,929,704 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1352,835,119 - 52,929,681 (-)EnsemblGRCm38mm10GRCm38
MGSCv371352,930,479 - 53,025,046 (-)NCBIGRCm37mm9NCBIm37
MGSCv361352,847,551 - 52,942,093 (-)NCBImm8
Celera1353,911,509 - 54,006,402 (-)NCBICelera
Cytogenetic Map13A5- B1NCBI
Auh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21712,329,522 - 12,424,896 (+)NCBI
Rnor_6.0 Ensembl1712,310,214 - 12,405,205 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01712,310,178 - 12,405,224 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01714,407,790 - 14,501,296 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41718,147,850 - 18,251,863 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11718,141,903 - 18,251,849 (+)NCBI
Celera1712,101,042 - 12,189,320 (+)NCBICelera
Cytogenetic Map17p14NCBI
Auh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955515971,800 - 1,123,474 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955515971,778 - 1,124,019 (+)NCBIChiLan1.0ChiLan1.0
AUH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1990,369,250 - 90,519,789 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0962,269,809 - 62,420,577 (-)NCBIMhudiblu_PPA_v0panPan3
AUH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1195,547,822 - 95,707,654 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl195,547,843 - 95,707,471 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha196,001,456 - 96,161,244 (+)NCBI
ROS_Cfam_1.0196,148,200 - 96,308,147 (+)NCBI
UMICH_Zoey_3.1195,780,326 - 95,939,995 (+)NCBI
UNSW_CanFamBas_1.0195,500,167 - 95,659,929 (+)NCBI
UU_Cfam_GSD_1.0196,260,104 - 96,419,890 (+)NCBI
Auh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494412,840,014 - 12,999,988 (-)NCBI
SpeTri2.0NW_004936796160,335 - 302,458 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AUH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl142,398,462 - 2,546,320 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1142,398,456 - 2,546,329 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2143,074,971 - 3,222,311 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AUH
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112101,654,957 - 101,799,863 (-)NCBI
ChlSab1.1 Ensembl12101,653,386 - 101,799,792 (-)Ensembl
Vero_WHO_p1.0NW_02366603889,980,978 - 90,122,961 (-)NCBI
Auh
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248681,200,862 - 1,392,844 (+)NCBI

Position Markers
D9S787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,110,977 - 94,111,176UniSTSGRCh37
Build 36993,150,798 - 93,150,997RGDNCBI36
Celera964,545,620 - 64,545,819RGD
Cytogenetic Map9q22.31UniSTS
HuRef963,791,429 - 63,791,628UniSTS
Whitehead-RH Map9341.2UniSTS
Whitehead-YAC Contig Map9 UniSTS
D9S2075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37993,978,159 - 93,978,270UniSTSGRCh37
Build 36993,017,980 - 93,018,091RGDNCBI36
Celera964,412,807 - 64,412,918RGD
Cytogenetic Map9q22.31UniSTS
HuRef963,658,467 - 63,658,578UniSTS
TNG Radiation Hybrid Map932901.0UniSTS
SHGC-80730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,088,411 - 94,088,703UniSTSGRCh37
Build 36993,128,232 - 93,128,524RGDNCBI36
Celera964,523,057 - 64,523,349RGD
Cytogenetic Map9q22.31UniSTS
HuRef963,768,866 - 63,769,158UniSTS
SHGC-79213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37993,983,297 - 93,983,603UniSTSGRCh37
Build 36993,023,118 - 93,023,424RGDNCBI36
Celera964,417,945 - 64,418,251RGD
Cytogenetic Map9q22.31UniSTS
HuRef963,663,605 - 63,663,911UniSTS
TNG Radiation Hybrid Map932882.0UniSTS
RH120004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37993,979,281 - 93,979,616UniSTSGRCh37
Build 36993,019,102 - 93,019,437RGDNCBI36
Celera964,413,929 - 64,414,264RGD
Cytogenetic Map9q22.31UniSTS
HuRef963,659,589 - 63,659,924UniSTS
RH123078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37994,088,411 - 94,088,704UniSTSGRCh37
Build 36993,128,232 - 93,128,525RGDNCBI36
Celera964,523,057 - 64,523,350RGD
Cytogenetic Map9q22.31UniSTS
HuRef963,768,866 - 63,769,159UniSTS
SHGC-31547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37993,976,343 - 93,976,542UniSTSGRCh37
Build 36993,016,164 - 93,016,363RGDNCBI36
Celera964,410,991 - 64,411,190RGD
Cytogenetic Map9q22.31UniSTS
HuRef963,656,651 - 63,656,850UniSTS
GeneMap99-GB4 RH Map9301.27UniSTS
Whitehead-RH Map9339.6UniSTS
NCBI RH Map9775.6UniSTS
GeneMap99-G3 RH Map92948.0UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:576
Count of miRNA genes:356
Interacting mature miRNAs:375
Transcripts:ENST00000303617, ENST00000375731, ENST00000422391, ENST00000473695, ENST00000475023, ENST00000478465
Prediction methods: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
Medium 2227 1830 1540 454 749 307 3434 1512 2878 377 1113 1530 162 1 1137 2113 6 2
Low 212 1157 186 170 1200 158 923 683 856 42 347 83 12 67 675
Below cutoff 4 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK124142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV751432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG333092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG706374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI667104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM728035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA724873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY155647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000303617   ⟹   ENSP00000307334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl991,213,815 - 91,361,913 (-)Ensembl
RefSeq Acc Id: ENST00000375731   ⟹   ENSP00000364883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl991,213,823 - 91,361,918 (-)Ensembl
RefSeq Acc Id: ENST00000473695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl991,213,960 - 91,220,919 (-)Ensembl
RefSeq Acc Id: ENST00000475023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl991,342,715 - 91,356,121 (-)Ensembl
RefSeq Acc Id: ENST00000478465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl991,297,991 - 91,361,887 (-)Ensembl
RefSeq Acc Id: NM_001306190   ⟹   NP_001293119
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,213,823 - 91,361,918 (-)NCBI
CHM1_1994,122,573 - 94,270,721 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001351431   ⟹   NP_001338360
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,213,823 - 91,361,918 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001351432   ⟹   NP_001338361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,213,823 - 91,361,918 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001351433   ⟹   NP_001338362
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,213,823 - 91,361,918 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001698   ⟹   NP_001689
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,213,823 - 91,361,918 (-)NCBI
GRCh37993,976,097 - 94,124,215 (-)NCBI
Build 36993,015,926 - 93,163,996 (-)NCBI Archive
HuRef963,656,405 - 63,804,572 (-)ENTREZGENE
CHM1_1994,122,573 - 94,270,676 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005252066   ⟹   XP_005252123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,213,823 - 91,361,937 (-)NCBI
GRCh37993,976,097 - 94,124,215 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005252067   ⟹   XP_005252124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,213,823 - 91,361,939 (-)NCBI
GRCh37993,976,097 - 94,124,215 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005252069   ⟹   XP_005252126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,217,334 - 91,361,940 (-)NCBI
GRCh37993,976,097 - 94,124,215 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005252072   ⟹   XP_005252129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,288,552 - 91,361,924 (-)NCBI
GRCh37993,976,097 - 94,124,215 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717150   ⟹   XP_006717213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,213,823 - 91,361,940 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518800   ⟹   XP_011517102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,294,661 - 91,361,942 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518803   ⟹   XP_011517105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,325,385 - 91,361,945 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014849   ⟹   XP_016870338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,213,823 - 91,361,924 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746328
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,213,823 - 91,361,942 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746329
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,213,823 - 91,361,924 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001689   ⟸   NM_001698
- Peptide Label: isoform 1 precursor
- UniProtKB: Q13825 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005252124   ⟸   XM_005252067
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005252123   ⟸   XM_005252066
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005252126   ⟸   XM_005252069
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005252129   ⟸   XM_005252072
- Peptide Label: isoform X7
- UniProtKB: B4DYI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717213   ⟸   XM_006717150
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011517102   ⟸   XM_011518800
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011517105   ⟸   XM_011518803
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001293119   ⟸   NM_001306190
- Peptide Label: isoform 2
- UniProtKB: Q13825 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870338   ⟸   XM_017014849
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001338362   ⟸   NM_001351433
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001338360   ⟸   NM_001351431
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001338361   ⟸   NM_001351432
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: ENSP00000364883   ⟸   ENST00000375731
RefSeq Acc Id: ENSP00000307334   ⟸   ENST00000303617

Promoters
RGD ID:7215447
Promoter ID:EPDNEW_H13470
Type:initiation region
Name:AUH_1
Description:AU RNA binding methylglutaconyl-CoA hydratase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38991,361,896 - 91,361,956EPDNEW
RGD ID:6807255
Promoter ID:HG_KWN:63994
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001698,   OTTHUMT00000053034,   UC004ARG.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36993,163,714 - 93,164,214 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001698.2(AUH):c.895-1G>A single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000009624] Chr9:91216107 [GRCh38]
Chr9:93978389 [GRCh37]
Chr9:9q22.31
pathogenic
NM_001351431.1(AUH):c.-318del deletion 3-Methylglutaconic aciduria type 1 [RCV000009625] Chr9:91361810 [GRCh38]
Chr9:94124092 [GRCh37]
Chr9:9q22.31
pathogenic
NM_001698.2(AUH):c.263-2A>G single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000009626] Chr9:91356157 [GRCh38]
Chr9:94118439 [GRCh37]
Chr9:9q22.31
pathogenic
NM_001698.2(AUH):c.943-2A>G single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000009627] Chr9:91214427 [GRCh38]
Chr9:93976709 [GRCh37]
Chr9:9q22.31
pathogenic
NM_001698.2(AUH):c.559G>A (p.Gly187Ser) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000022982]|not provided [RCV000196605] Chr9:91298023 [GRCh38]
Chr9:94060305 [GRCh37]
Chr9:9q22.31
pathogenic
NM_001698.2(AUH):c.650G>A (p.Gly217Asp) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000022983] Chr9:91296026 [GRCh38]
Chr9:94058308 [GRCh37]
Chr9:9q22.31
pathogenic
NM_001698.2(AUH):c.991A>T (p.Lys331Ter) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000022984] Chr9:91214377 [GRCh38]
Chr9:93976659 [GRCh37]
Chr9:9q22.31
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001698.2(AUH):c.589C>T (p.Arg197Ter) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000009623] Chr9:91297993 [GRCh38]
Chr9:94060275 [GRCh37]
Chr9:9q22.31
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001698.2(AUH):c.211A>C (p.Met71Leu) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000660479] Chr9:91361679 [GRCh38]
Chr9:94123961 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.483A>C (p.Ile161=) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000369919]|not provided [RCV000676895]|not specified [RCV000116490] Chr9:91325340 [GRCh38]
Chr9:94087622 [GRCh37]
Chr9:9q22.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_001698.2(AUH):c.678C>T (p.Arg226=) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000260083]|not specified [RCV000123789] Chr9:91220970 [GRCh38]
Chr9:93983252 [GRCh37]
Chr9:9q22.31
benign|uncertain significance
NM_001698.2(AUH):c.927A>G (p.Glu309=) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001083466]|not provided [RCV000676892]|not specified [RCV000123790] Chr9:91216074 [GRCh38]
Chr9:93978356 [GRCh37]
Chr9:9q22.31
benign|likely benign
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000326682]|not provided [RCV000676897]|not specified [RCV000123791] Chr9:91361813 [GRCh38]
Chr9:94124095 [GRCh37]
Chr9:9q22.31
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2
pathogenic
GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1 copy number loss See cases [RCV000137602] Chr9:86079851..91827221 [GRCh38]
Chr9:88694766..94589503 [GRCh37]
Chr9:87884586..93629324 [NCBI36]
Chr9:9q21.33-22.31
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001698.2(AUH):c.373C>T (p.Arg125Trp) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000190355] Chr9:91355928 [GRCh38]
Chr9:94118210 [GRCh37]
Chr9:9q22.31
likely pathogenic
NM_001698.3(AUH):c.381A>G single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000275240]|not provided [RCV000487826]|not specified [RCV000200381] Chr9:91355920 [GRCh38]
Chr9:94118202 [GRCh37]
Chr9:9q22.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001698.2(AUH):c.824C>T (p.Ala275Val) single nucleotide variant Inborn genetic diseases [RCV000624471]|not provided [RCV000196487] Chr9:91220824 [GRCh38]
Chr9:93983106 [GRCh37]
Chr9:9q22.31
pathogenic|likely pathogenic
NM_001698.2(AUH):c.148T>A (p.Trp50Arg) single nucleotide variant not provided [RCV000196743] Chr9:91361742 [GRCh38]
Chr9:94124024 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.20C>T (p.Ala7Val) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001350300]|not provided [RCV000432743]|not specified [RCV000197239] Chr9:91361870 [GRCh38]
Chr9:94124152 [GRCh37]
Chr9:9q22.31
pathogenic|likely benign|uncertain significance
NM_001698.2(AUH):c.742G>A (p.Ala248Thr) single nucleotide variant not provided [RCV000197560] Chr9:91220906 [GRCh38]
Chr9:93983188 [GRCh37]
Chr9:9q22.31
likely pathogenic
NM_001698.2(AUH):c.866C>A (p.Ala289Glu) single nucleotide variant not provided [RCV000197701] Chr9:91217305 [GRCh38]
Chr9:93979587 [GRCh37]
Chr9:9q22.31
likely pathogenic
NM_001698.2(AUH):c.182C>A (p.Pro61His) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000384928]|not provided [RCV000442868]|not specified [RCV000198070] Chr9:91361708 [GRCh38]
Chr9:94123990 [GRCh37]
Chr9:9q22.31
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001698.2(AUH):c.374G>A (p.Arg125Gln) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001057290]|not provided [RCV000198506] Chr9:91355927 [GRCh38]
Chr9:94118209 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.598+10A>C single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000315330]|not provided [RCV001253882]|not specified [RCV000199136] Chr9:91297974 [GRCh38]
Chr9:94060256 [GRCh37]
Chr9:9q22.31
benign|likely benign|uncertain significance
NM_001698.2(AUH):c.170C>T (p.Ala57Val) single nucleotide variant not specified [RCV000195570] Chr9:91361720 [GRCh38]
Chr9:94124002 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.730G>A (p.Asp244Asn) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000766066]|not provided [RCV000195704] Chr9:91220918 [GRCh38]
Chr9:93983200 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.535A>G (p.Ile179Val) single nucleotide variant not provided [RCV000199518] Chr9:91298047 [GRCh38]
Chr9:94060329 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.798G>A (p.Ala266=) single nucleotide variant not specified [RCV000196060] Chr9:91220850 [GRCh38]
Chr9:93983132 [GRCh37]
Chr9:9q22.31
benign
NM_001698.2(AUH):c.676C>T (p.Arg226Cys) single nucleotide variant not provided [RCV000199924] Chr9:91220972 [GRCh38]
Chr9:93983254 [GRCh37]
Chr9:9q22.31
likely pathogenic|uncertain significance
NM_001698.2(AUH):c.791G>A (p.Gly264Glu) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000703446]|not provided [RCV000200070] Chr9:91220857 [GRCh38]
Chr9:93983139 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001698.2(AUH):c.795C>T (p.Asp265=) single nucleotide variant not specified [RCV000251276] Chr9:91220853 [GRCh38]
Chr9:93983135 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.331-6G>A single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000330450]|not provided [RCV000676896]|not specified [RCV000253918] Chr9:91355976 [GRCh38]
Chr9:94118258 [GRCh37]
Chr9:9q22.31
benign|likely benign
NM_001698.2(AUH):c.844-20T>C single nucleotide variant not specified [RCV000242846] Chr9:91217347 [GRCh38]
Chr9:93979629 [GRCh37]
Chr9:9q22.31
benign
NM_001698.2(AUH):c.*432C>T single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000395821] Chr9:91213916 [GRCh38]
Chr9:93976198 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.*259_*262del deletion 3-Methylglutaconic aciduria type 1 [RCV000302773] Chr9:91214086..91214089 [GRCh38]
Chr9:93976368..93976371 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.*107A>G single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000399880] Chr9:91214241 [GRCh38]
Chr9:93976523 [GRCh37]
Chr9:9q22.31
benign|likely benign
NM_001698.2(AUH):c.84G>T (p.Ala28=) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000271586] Chr9:91361806 [GRCh38]
Chr9:94124088 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.951A>T (p.Pro317=) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000354984]|not specified [RCV000606408] Chr9:91214417 [GRCh38]
Chr9:93976699 [GRCh37]
Chr9:9q22.31
likely benign|uncertain significance
NM_001698.2(AUH):c.-30C>G single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000381331] Chr9:91361919 [GRCh38]
Chr9:94124201 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.*218_*219del deletion 3-Methylglutaconic aciduria type 1 [RCV000339032] Chr9:91214129..91214130 [GRCh38]
Chr9:93976411..93976412 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.*29G>A single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000300192] Chr9:91214319 [GRCh38]
Chr9:93976601 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.655+3A>C single nucleotide variant not provided [RCV000398465] Chr9:91296018 [GRCh38]
Chr9:94058300 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001306190.1(AUH):c.419-27274T>A single nucleotide variant not provided [RCV000336356] Chr9:91325350 [GRCh38]
Chr9:94087632 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001698.2(AUH):c.262+14G>A single nucleotide variant not specified [RCV000437645] Chr9:91361614 [GRCh38]
Chr9:94123896 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.655+15C>T single nucleotide variant not specified [RCV000434473] Chr9:91296006 [GRCh38]
Chr9:94058288 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.894+13A>C single nucleotide variant not specified [RCV000441567] Chr9:91217264 [GRCh38]
Chr9:93979546 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.-28T>C single nucleotide variant not specified [RCV000438077] Chr9:91361917 [GRCh38]
Chr9:94124199 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.807G>A (p.Arg269=) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000526949]|not specified [RCV000421984] Chr9:91220841 [GRCh38]
Chr9:93983123 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.263-11C>T single nucleotide variant not specified [RCV000426635] Chr9:91356166 [GRCh38]
Chr9:94118448 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.135G>A (p.Ala45=) single nucleotide variant not provided [RCV000908298]|not specified [RCV000420342] Chr9:91361755 [GRCh38]
Chr9:94124037 [GRCh37]
Chr9:9q22.31
benign|likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001698.2(AUH):c.562dup (p.Leu188fs) duplication not provided [RCV000477977] Chr9:91298019..91298020 [GRCh38]
Chr9:94060301..94060302 [GRCh37]
Chr9:9q22.31
likely pathogenic
NM_001698.2(AUH):c.894+8C>A single nucleotide variant not specified [RCV000602925] Chr9:91217269 [GRCh38]
Chr9:93979551 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.657G>A (p.Gly219=) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000635282] Chr9:91220991 [GRCh38]
Chr9:93983273 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.304T>A (p.Ser102Thr) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000635281] Chr9:91356114 [GRCh38]
Chr9:94118396 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.942+4dup duplication 3-Methylglutaconic aciduria type 1 [RCV000635280] Chr9:91216054..91216055 [GRCh38]
Chr9:93978336..93978337 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.936T>C (p.Tyr312=) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000873524]|not provided [RCV001310658]|not specified [RCV000612120] Chr9:91216065 [GRCh38]
Chr9:93978347 [GRCh37]
Chr9:9q22.31
likely benign|conflicting interpretations of pathogenicity
NM_001698.2(AUH):c.-45C>A single nucleotide variant not specified [RCV000612710] Chr9:91361934 [GRCh38]
Chr9:94124216 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.-13G>A single nucleotide variant not specified [RCV000608028] Chr9:91361902 [GRCh38]
Chr9:94124184 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.719C>T (p.Ala240Val) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000635279] Chr9:91220929 [GRCh38]
Chr9:93983211 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001698.2(AUH):c.1004G>A (p.Arg335His) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001168935]|not provided [RCV000513460] Chr9:91214364 [GRCh38]
Chr9:93976646 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.44T>A (p.Leu15Gln) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000660370] Chr9:91361846 [GRCh38]
Chr9:94124128 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.712T>C (p.Phe238Leu) single nucleotide variant not provided [RCV000676893] Chr9:91220936 [GRCh38]
Chr9:93983218 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.662C>T (p.Thr221Ile) single nucleotide variant not provided [RCV000676894] Chr9:91220986 [GRCh38]
Chr9:93983268 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q22.31(chr9:94018565-94019591)x1 copy number loss not provided [RCV000748523] Chr9:94018565..94019591 [GRCh37]
Chr9:9q22.31
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001698.2(AUH):c.(?_1)_(418_?)+1del deletion 3-Methylglutaconic aciduria type 1 [RCV000760163] Chr9:91355882..91361889 [GRCh38]
Chr9:9q22.31
pathogenic
NC_000009.12:g.(?_91220785)_(91221012_?)del deletion 3-Methylglutaconic aciduria type 1 [RCV001032032] Chr9:93983067..93983294 [GRCh37]
Chr9:9q22.31
pathogenic
NM_001698.3(AUH):c.222G>A (p.Glu74=) single nucleotide variant not provided [RCV000928913] Chr9:91361668 [GRCh38]
Chr9:94123950 [GRCh37]
Chr9:9q22.31
likely benign
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32
pathogenic
NM_001698.3(AUH):c.197del (p.Gly66fs) deletion 3-Methylglutaconic aciduria type 1 [RCV001054138] Chr9:91361693 [GRCh38]
Chr9:94123975 [GRCh37]
Chr9:9q22.31
pathogenic
NM_001698.3(AUH):c.909A>C (p.Thr303=) single nucleotide variant not provided [RCV000976896] Chr9:91216092 [GRCh38]
Chr9:93978374 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.3(AUH):c.198C>T (p.Gly66=) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000929810] Chr9:91361692 [GRCh38]
Chr9:94123974 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.3(AUH):c.117G>C (p.Ser39=) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000939913] Chr9:91361773 [GRCh38]
Chr9:94124055 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.3(AUH):c.263-5_263-2del deletion not provided [RCV000842706] Chr9:91356157..91356160 [GRCh38]
Chr9:94118439..94118442 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.2(AUH):c.713T>C (p.Phe238Ser) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000793671] Chr9:91220935 [GRCh38]
Chr9:93983217 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.2(AUH):c.-243A>G single nucleotide variant not provided [RCV000843513] Chr9:91362132 [GRCh38]
Chr9:94124414 [GRCh37]
Chr9:9q22.31
benign
NM_001698.2(AUH):c.656-263T>G single nucleotide variant not provided [RCV000843526] Chr9:91221255 [GRCh38]
Chr9:93983537 [GRCh37]
Chr9:9q22.31
benign
NM_001698.2(AUH):c.843+155G>A single nucleotide variant not provided [RCV000843530] Chr9:91220650 [GRCh38]
Chr9:93982932 [GRCh37]
Chr9:9q22.31
benign
NM_001698.2(AUH):c.599-2A>G single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV000795885] Chr9:91296079 [GRCh38]
Chr9:94058361 [GRCh37]
Chr9:9q22.31
likely pathogenic
NM_001698.3(AUH):c.506-172dup duplication not provided [RCV000843521] Chr9:91298244..91298245 [GRCh38]
Chr9:94060526..94060527 [GRCh37]
Chr9:9q22.31
benign
NM_001698.2(AUH):c.505+198T>C single nucleotide variant not provided [RCV000831766] Chr9:91325120 [GRCh38]
Chr9:94087402 [GRCh37]
Chr9:9q22.31
benign
GRCh37/hg19 9q22.31(chr9:94117511-94122902)x1 copy number loss not provided [RCV000846362] Chr9:94117511..94122902 [GRCh37]
Chr9:9q22.31
pathogenic
NM_001698.2(AUH):c.598+235C>T single nucleotide variant not provided [RCV000828786] Chr9:91297749 [GRCh38]
Chr9:94060031 [GRCh37]
Chr9:9q22.31
benign
NM_001698.2(AUH):c.843+188C>T single nucleotide variant not provided [RCV000828787] Chr9:91220617 [GRCh38]
Chr9:93982899 [GRCh37]
Chr9:9q22.31
benign
NM_001698.3(AUH):c.*175G>A single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001168933] Chr9:91214173 [GRCh38]
Chr9:93976455 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.3(AUH):c.*60G>A single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001168934] Chr9:91214288 [GRCh38]
Chr9:93976570 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.3(AUH):c.150G>A (p.Trp50Ter) single nucleotide variant not provided [RCV000999175] Chr9:91361740 [GRCh38]
Chr9:94124022 [GRCh37]
Chr9:9q22.31
likely pathogenic
NM_001698.3(AUH):c.898G>A (p.Asp300Asn) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001241294] Chr9:91216103 [GRCh38]
Chr9:93978385 [GRCh37]
Chr9:9q22.31
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)x3 copy number gain not provided [RCV001006243] Chr9:90002910..94567835 [GRCh37]
Chr9:9q21.33-22.31
likely pathogenic
NM_001698.3(AUH):c.24A>G (p.Ala8=) single nucleotide variant not provided [RCV000911022] Chr9:91361866 [GRCh38]
Chr9:94124148 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.3(AUH):c.720G>A (p.Ala240=) single nucleotide variant not provided [RCV000916962] Chr9:91220928 [GRCh38]
Chr9:93983210 [GRCh37]
Chr9:9q22.31
likely benign
NM_001698.3(AUH):c.464G>C (p.Gly155Ala) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001218264] Chr9:91325359 [GRCh38]
Chr9:94087641 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.3(AUH):c.722G>A (p.Arg241Gln) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001036392] Chr9:91220926 [GRCh38]
Chr9:93983208 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.3(AUH):c.623T>C (p.Val208Ala) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001206274] Chr9:91296053 [GRCh38]
Chr9:94058335 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.3(AUH):c.656-2del deletion 3-Methylglutaconic aciduria type 1 [RCV001205085] Chr9:91220994 [GRCh38]
Chr9:93983276 [GRCh37]
Chr9:9q22.31
likely pathogenic
NM_001698.3(AUH):c.584A>C (p.Asp195Ala) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001205086] Chr9:91297998 [GRCh38]
Chr9:94060280 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.3(AUH):c.*200A>G single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001168932] Chr9:91214148 [GRCh38]
Chr9:93976430 [GRCh37]
Chr9:9q22.31
benign
NM_001698.3(AUH):c.*237G>A single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001168931] Chr9:91214111 [GRCh38]
Chr9:93976393 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.3(AUH):c.419G>A (p.Gly140Asp) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001250056] Chr9:91325404 [GRCh38]
Chr9:94087686 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.3(AUH):c.385A>T (p.Ile129Phe) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001059798] Chr9:91355916 [GRCh38]
Chr9:94118198 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.3(AUH):c.40T>C (p.Ser14Pro) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001232244] Chr9:91361850 [GRCh38]
Chr9:94124132 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.3(AUH):c.655+7G>A single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001253999] Chr9:91296014 [GRCh38]
Chr9:94058296 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.3(AUH):c.894+9C>A single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001253974] Chr9:91217268 [GRCh38]
Chr9:93979550 [GRCh37]
Chr9:9q22.31
uncertain significance
NM_001698.3(AUH):c.679G>A (p.Ala227Thr) single nucleotide variant 3-Methylglutaconic aciduria type 1 [RCV001253975] Chr9:91220969 [GRCh38]
Chr9:93983251 [GRCh37]
Chr9:9q22.31
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:890 AgrOrtholog
COSMIC AUH COSMIC
Ensembl Genes ENSG00000148090 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000307334 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364883 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000303617 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375731 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.12.10 UniProtKB/Swiss-Prot
GTEx ENSG00000148090 GTEx
HGNC ID HGNC:890 ENTREZGENE
Human Proteome Map AUH Human Proteome Map
InterPro ClpP/crotonase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enoyl-CoA_hyd/isom_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enoyl-CoA_hydra/iso UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enoyl-CoA_hydra_C UniProtKB/Swiss-Prot
KEGG Report hsa:549 UniProtKB/Swiss-Prot
NCBI Gene 549 ENTREZGENE
OMIM 250950 OMIM
  600529 OMIM
Pfam ECH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25181 PharmGKB
PROSITE ENOYL_COA_HYDRATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AUHM_HUMAN UniProtKB/Swiss-Prot
  B4DYI6 ENTREZGENE, UniProtKB/TrEMBL
  Q13825 ENTREZGENE
UniProt Secondary B1ALV7 UniProtKB/Swiss-Prot
  B1ALV8 UniProtKB/Swiss-Prot
  Q8WUE4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 AUH  AU RNA binding methylglutaconyl-CoA hydratase  AUH  AU RNA binding protein/enoyl-CoA hydratase  Symbol and/or name change 5135510 APPROVED
2011-07-27 AUH  AU RNA binding protein/enoyl-CoA hydratase  AUH  AU RNA binding protein/enoyl-Coenzyme A hydratase  Symbol and/or name change 5135510 APPROVED