HAO1 (hydroxyacid oxidase 1) - Rat Genome Database

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Gene: HAO1 (hydroxyacid oxidase 1) Homo sapiens
Analyze
Symbol: HAO1
Name: hydroxyacid oxidase 1
RGD ID: 1353845
HGNC Page HGNC:4809
Description: Enables (S)-2-hydroxy-acid oxidase activity; FMN binding activity; and glyoxylate oxidase activity. Involved in fatty acid alpha-oxidation and glycolate catabolic process. Located in peroxisomal matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: (S)-2-hydroxy-acid oxidase; 2-Hydroxyacid oxidase 1; glycolate oxidase; glycolate oxidase 1; glyoxylate oxidase; GO; GOX; GOX1; HAOX1; hydroxyacid oxidase (glycolate oxidase) 1; MGC142225; MGC142227
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38207,882,985 - 7,940,458 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl207,882,985 - 7,940,458 (-)EnsemblGRCh38hg38GRCh38
GRCh37207,863,632 - 7,921,105 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36207,811,631 - 7,869,093 (-)NCBINCBI36Build 36hg18NCBI36
Build 34207,811,630 - 7,869,093NCBI
Celera207,933,209 - 7,990,669 (-)NCBICelera
Cytogenetic Map20p12.3NCBI
HuRef207,814,621 - 7,872,059 (-)NCBIHuRef
CHM1_1207,864,109 - 7,921,570 (-)NCBICHM1_1
T2T-CHM13v2.0207,924,797 - 7,982,271 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9891009   PMID:10777549   PMID:10978532   PMID:11780052   PMID:12477932   PMID:14623081   PMID:15489334   PMID:15956068   PMID:17669354   PMID:18215067   PMID:20054120   PMID:20178365  
PMID:20189245   PMID:21141873   PMID:21873635   PMID:23263487   PMID:24836286   PMID:25064007   PMID:26186194   PMID:28514442   PMID:33961781   PMID:37247262   PMID:38214752  


Genomics

Comparative Map Data
HAO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38207,882,985 - 7,940,458 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl207,882,985 - 7,940,458 (-)EnsemblGRCh38hg38GRCh38
GRCh37207,863,632 - 7,921,105 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36207,811,631 - 7,869,093 (-)NCBINCBI36Build 36hg18NCBI36
Build 34207,811,630 - 7,869,093NCBI
Celera207,933,209 - 7,990,669 (-)NCBICelera
Cytogenetic Map20p12.3NCBI
HuRef207,814,621 - 7,872,059 (-)NCBIHuRef
CHM1_1207,864,109 - 7,921,570 (-)NCBICHM1_1
T2T-CHM13v2.0207,924,797 - 7,982,271 (-)NCBIT2T-CHM13v2.0
Hao1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392134,339,281 - 134,396,272 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2134,339,281 - 134,396,288 (-)EnsemblGRCm39 Ensembl
GRCm382134,497,361 - 134,554,352 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2134,497,361 - 134,554,368 (-)EnsemblGRCm38mm10GRCm38
MGSCv372134,323,097 - 134,380,088 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362134,188,802 - 134,245,793 (-)NCBIMGSCv36mm8
Celera2135,711,108 - 135,768,145 (-)NCBICelera
Cytogenetic Map2F2NCBI
cM Map265.65NCBI
Hao1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83142,102,873 - 142,281,527 (-)NCBIGRCr8
mRatBN7.23121,757,400 - 121,828,721 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3121,771,836 - 121,828,721 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3125,674,380 - 125,731,284 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03134,287,471 - 134,345,573 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03131,930,568 - 131,987,464 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03127,444,900 - 127,500,709 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3127,444,902 - 127,500,709 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03133,932,667 - 133,988,954 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43122,506,916 - 122,564,012 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera3120,530,658 - 120,586,825 (-)NCBICelera
Cytogenetic Map3q36NCBI
Hao1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541517,981,791 - 18,035,224 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541517,981,791 - 18,035,151 (-)NCBIChiLan1.0ChiLan1.0
HAO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2218,784,614 - 8,842,467 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1208,781,441 - 8,839,294 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0207,856,967 - 7,914,818 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1207,637,582 - 7,695,120 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl207,633,861 - 7,695,120 (-)Ensemblpanpan1.1panPan2
HAO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12414,204,543 - 14,252,873 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2414,204,617 - 14,252,191 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2414,026,777 - 14,075,130 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02414,605,063 - 14,653,411 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2414,605,124 - 14,653,421 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12414,214,061 - 14,262,313 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02414,324,157 - 14,372,478 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02414,653,607 - 14,701,967 (+)NCBIUU_Cfam_GSD_1.0
Hao1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640163,001,985 - 163,055,075 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648511,435,151 - 11,486,042 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648511,435,151 - 11,486,042 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HAO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1716,744,442 - 16,802,442 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11716,746,153 - 16,802,460 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21718,814,432 - 18,870,834 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HAO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1230,183,031 - 30,238,663 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl230,183,705 - 30,240,231 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607114,314,987 - 14,370,752 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hao1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247418,763,496 - 8,824,468 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247418,762,556 - 8,824,517 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HAO1
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p12.3(chr20:6336607-8577546)x1 copy number loss See cases [RCV000050903] Chr20:6336607..8577546 [GRCh38]
Chr20:6317254..8558193 [GRCh37]
Chr20:6265254..8506193 [NCBI36]
Chr20:20p12.3		 pathogenic
GRCh38/hg38 20p12.3(chr20:7123110-8577546)x3 copy number gain See cases [RCV000050394] Chr20:7123110..8577546 [GRCh38]
Chr20:7103757..8558193 [GRCh37]
Chr20:7051757..8506193 [NCBI36]
Chr20:20p12.3		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 20p12.3(chr20:7123110-8577546)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050395]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050395]|See cases [RCV000050395] Chr20:7123110..8577546 [GRCh38]
Chr20:7103757..8558193 [GRCh37]
Chr20:20p12.3		 pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1 copy number loss See cases [RCV000052739] Chr20:7566644..11028694 [GRCh38]
Chr20:7547291..11009342 [GRCh37]
Chr20:7495291..10957342 [NCBI36]
Chr20:20p12.3-12.2		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
NM_017545.2(HAO1):c.722-5183G>T single nucleotide variant Lung cancer [RCV000101759] Chr20:7900407 [GRCh38]
Chr20:7881054 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh38/hg38 20p12.3(chr20:7123110-8577546)x1 copy number loss See cases [RCV000050395] Chr20:7123110..8577546 [GRCh38]
Chr20:7103757..8558193 [GRCh37]
Chr20:7051757..8506193 [NCBI36]
Chr20:20p12.3		 pathogenic
NM_017545.2(HAO1):c.*697T>C single nucleotide variant Nephrolithiasis, calcium oxalate [RCV000128597] Chr20:7882896 [GRCh38]
Chr20:7863543 [GRCh37]
Chr20:7811543 [NCBI36]
Chr20:20p12.3		 association
NM_017545.3(HAO1):c.814-2945A>G single nucleotide variant Nephrolithiasis, calcium oxalate [RCV000128598] Chr20:7888809 [GRCh38]
Chr20:7888809..7888810 [GRCh38]
Chr20:7869456 [GRCh37]
Chr20:7869456..7869457 [GRCh37]
Chr20:7817456 [NCBI36]
Chr20:20p12.3		 association
NM_017545.3(HAO1):c.814-4211G>A single nucleotide variant Nephrolithiasis, calcium oxalate [RCV000128599] Chr20:7890075 [GRCh38]
Chr20:7870722 [GRCh37]
Chr20:7818722 [NCBI36]
Chr20:20p12.3		 association
NM_017545.3(HAO1):c.721+1617G>C single nucleotide variant Nephrolithiasis, calcium oxalate [RCV000128600] Chr20:7904537 [GRCh38]
Chr20:7885184 [GRCh37]
Chr20:7833184 [NCBI36]
Chr20:20p12.3		 association
NM_017545.3(HAO1):c.545+1171T>C single nucleotide variant Nephrolithiasis, calcium oxalate [RCV000128601] Chr20:7912993 [GRCh38]
Chr20:7893640 [GRCh37]
Chr20:7841640 [NCBI36]
Chr20:20p12.3		 association
NM_017545.3(HAO1):c.290-1983G>A single nucleotide variant Nephrolithiasis, calcium oxalate [RCV000128602] Chr20:7916402 [GRCh38]
Chr20:7897049 [GRCh37]
Chr20:7845049 [NCBI36]
Chr20:20p12.3		 association
NM_017545.3(HAO1):c.290-4862A>G single nucleotide variant Nephrolithiasis, calcium oxalate [RCV000128603] Chr20:7919281 [GRCh38]
Chr20:7899928 [GRCh37]
Chr20:7847928 [NCBI36]
Chr20:20p12.3		 association
NM_017545.3(HAO1):c.289+8188C>T single nucleotide variant Nephrolithiasis, calcium oxalate [RCV000128604] Chr20:7926296 [GRCh38]
Chr20:7906943 [GRCh37]
Chr20:7854943 [NCBI36]
Chr20:20p12.3		 association
NM_017545.3(HAO1):c.289+5965C>T single nucleotide variant Nephrolithiasis, calcium oxalate [RCV000128605] Chr20:7928519 [GRCh38]
Chr20:7909166 [GRCh37]
Chr20:7857166 [NCBI36]
Chr20:20p12.3		 association
NM_017545.3(HAO1):c.289+2189G>C single nucleotide variant Nephrolithiasis, calcium oxalate [RCV000128606] Chr20:7932295 [GRCh38]
Chr20:7912942 [GRCh37]
Chr20:7860942 [NCBI36]
Chr20:20p12.3		 association
NM_017545.3(HAO1):c.137+329T>C single nucleotide variant Nephrolithiasis, calcium oxalate [RCV000128607] Chr20:7939957 [GRCh38]
Chr20:7920604 [GRCh37]
Chr20:7868604 [NCBI36]
Chr20:20p12.3		 association
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1 copy number loss See cases [RCV000135292] Chr20:6617695..13392559 [GRCh38]
Chr20:6598342..13373206 [GRCh37]
Chr20:6546342..13321206 [NCBI36]
Chr20:20p12.3-12.1		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p12.3(chr20:6186076-8804328)x3 copy number gain See cases [RCV000138041] Chr20:6186076..8804328 [GRCh38]
Chr20:6166723..8784975 [GRCh37]
Chr20:6114723..8732975 [NCBI36]
Chr20:20p12.3		 uncertain significance
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p12.3(chr20:7336200-8078349)x3 copy number gain See cases [RCV000138624] Chr20:7336200..8078349 [GRCh38]
Chr20:7316847..8058996 [GRCh37]
Chr20:7264847..8006996 [NCBI36]
Chr20:20p12.3		 likely benign
GRCh38/hg38 20p12.3(chr20:7137090-8095330)x3 copy number gain See cases [RCV000139794] Chr20:7137090..8095330 [GRCh38]
Chr20:7117737..8075977 [GRCh37]
Chr20:7065737..8023977 [NCBI36]
Chr20:20p12.3		 uncertain significance
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p12.3(chr20:7125410-8606171)x3 copy number gain See cases [RCV000142356] Chr20:7125410..8606171 [GRCh38]
Chr20:7106057..8586818 [GRCh37]
Chr20:7054057..8534818 [NCBI36]
Chr20:20p12.3		 uncertain significance
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 copy number gain See cases [RCV000142917] Chr20:1269303..8626911 [GRCh38]
Chr20:1249947..8607558 [GRCh37]
Chr20:1197947..8555558 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p12.3(chr20:7123110-8577546)x3 copy number gain See cases [RCV000148075] Chr20:7123110..8577546 [GRCh38]
Chr20:7103757..8558193 [GRCh37]
Chr20:7051757..8506193 [NCBI36]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.814-1G>C single nucleotide variant not provided [RCV000207501] Chr20:7885865 [GRCh38]
Chr20:7866512 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1 copy number loss See cases [RCV000446718] Chr20:4392930..12667768 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p12.3-12.1(chr20:7352576-12248958)x3 copy number gain See cases [RCV000448374] Chr20:7352576..12248958 [GRCh37]
Chr20:20p12.3-12.1		 uncertain significance
GRCh37/hg19 20p12.3(chr20:7103757-8075977)x3 copy number gain not specified [RCV000487459] Chr20:7103757..8075977 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
GRCh37/hg19 20p12.3(chr20:7103757-8558193)x3 copy number gain not provided [RCV000509139] Chr20:7103757..8558193 [GRCh37]
Chr20:20p12.3		 not provided
GRCh37/hg19 20p12.3(chr20:6143179-8611534)x1 copy number loss See cases [RCV000511512] Chr20:6143179..8611534 [GRCh37]
Chr20:20p12.3		 likely pathogenic
GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1 copy number loss See cases [RCV000511897] Chr20:2463101..8185680 [GRCh37]
Chr20:20p13-12.3		 pathogenic
GRCh37/hg19 20p12.3(chr20:7106057-8586513)x3 copy number gain See cases [RCV000511116] Chr20:7106057..8586513 [GRCh37]
Chr20:20p12.3		 likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2		 likely pathogenic
GRCh37/hg19 20p12.3(chr20:7092359-8586513)x3 copy number gain not provided [RCV000684130] Chr20:7092359..8586513 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3 copy number gain not provided [RCV000684133] Chr20:7604120..14739025 [GRCh37]
Chr20:20p12.3-12.1		 pathogenic
GRCh37/hg19 20p12.3(chr20:7716643-9158286)x1 copy number loss not provided [RCV000684129] Chr20:7716643..9158286 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1 copy number loss not provided [RCV000684134] Chr20:3092739..17091453 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p12.3(chr20:7106057-8085390)x3 copy number gain Autism [RCV002285118] Chr20:7106057..8085390 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p12.3(chr20:7092284-8586513)x3 copy number gain not provided [RCV000849753] Chr20:7092284..8586513 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p12.3(chr20:7106057-8572824)x3 copy number gain not provided [RCV000848179] Chr20:7106057..8572824 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p12.3(chr20:7106288-8572965)x1 copy number loss not provided [RCV000847804] Chr20:7106288..8572965 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p12.3(chr20:7548348-8317079)x3 copy number gain not provided [RCV000848267] Chr20:7548348..8317079 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p12.3(chr20:7374347-8111284)x3 copy number gain not provided [RCV001007078] Chr20:7374347..8111284 [GRCh37]
Chr20:20p12.3		 likely benign
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p12.3(chr20:7052456-8140338)x3 copy number gain not provided [RCV001007077] Chr20:7052456..8140338 [GRCh37]
Chr20:20p12.3		 uncertain significance
NC_000020.10:g.(?_7812350)_(10654278_?)dup duplication Alagille syndrome due to a JAG1 point mutation [RCV003120764] Chr20:7812350..10654278 [GRCh37]
Chr20:20p12.3-12.2		 likely benign|uncertain significance
GRCh37/hg19 20p12.3-12.1(chr20:7352576-12248958) copy number gain not specified [RCV002052698] Chr20:7352576..12248958 [GRCh37]
Chr20:20p12.3-12.1		 uncertain significance
GRCh37/hg19 20p12.3(chr20:7036007-8138271)x3 copy number gain not provided [RCV001834419] Chr20:7036007..8138271 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.1099G>A (p.Val367Ile) single nucleotide variant not specified [RCV004301818] Chr20:7883607 [GRCh38]
Chr20:7864254 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.392T>C (p.Leu131Pro) single nucleotide variant not specified [RCV004313945] Chr20:7914317 [GRCh38]
Chr20:7894964 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p13-12.2(chr20:3178539-11848383) copy number loss 20p12.3 microdeletion syndrome [RCV002280726] Chr20:3178539..11848383 [GRCh37]
Chr20:20p13-12.2		 pathogenic
GRCh37/hg19 20p12.3(chr20:7548252-8315350)x4 copy number gain not provided [RCV002472877] Chr20:7548252..8315350 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p12.3(chr20:7106058-8586513)x3 copy number gain not provided [RCV002473845] Chr20:7106058..8586513 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.97G>A (p.Asp33Asn) single nucleotide variant not specified [RCV004109733] Chr20:7940326 [GRCh38]
Chr20:7920973 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.826C>T (p.Pro276Ser) single nucleotide variant not specified [RCV004144627] Chr20:7885852 [GRCh38]
Chr20:7866499 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.188C>T (p.Ser63Leu) single nucleotide variant Inborn genetic diseases [RCV002732635] Chr20:7934585 [GRCh38]
Chr20:7915232 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.553A>T (p.Asn185Tyr) single nucleotide variant not specified [RCV004083945] Chr20:7906322 [GRCh38]
Chr20:7886969 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.515G>A (p.Arg172His) single nucleotide variant not specified [RCV004091864] Chr20:7914194 [GRCh38]
Chr20:7894841 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.295C>G (p.Gln99Glu) single nucleotide variant not specified [RCV004158746] Chr20:7914414 [GRCh38]
Chr20:7895061 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.631A>G (p.Lys211Glu) single nucleotide variant not specified [RCV004098331] Chr20:7906244 [GRCh38]
Chr20:7886891 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.817G>A (p.Asp273Asn) single nucleotide variant not specified [RCV004215568] Chr20:7885861 [GRCh38]
Chr20:7866508 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.773C>T (p.Ser258Leu) single nucleotide variant not specified [RCV004077117] Chr20:7895173 [GRCh38]
Chr20:7875820 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.883C>T (p.Arg295Trp) single nucleotide variant not specified [RCV004187872] Chr20:7885795 [GRCh38]
Chr20:7866442 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.952G>A (p.Val318Ile) single nucleotide variant not specified [RCV004080099] Chr20:7885726 [GRCh38]
Chr20:7866373 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017545.3(HAO1):c.478G>C (p.Asp160His) single nucleotide variant not specified [RCV004140313] Chr20:7914231 [GRCh38]
Chr20:7894878 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
GRCh37/hg19 20p12.3(chr20:7106058-8573589)x1 copy number loss not provided [RCV003483357] Chr20:7106058..8573589 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3 copy number gain not provided [RCV003485207] Chr20:61569..9542361 [GRCh37]
Chr20:20p13-12.2		 pathogenic
NM_017545.3(HAO1):c.493G>T (p.Gly165Cys) single nucleotide variant glycolate oxidase deficiency [RCV003459941]   pathogenic
GRCh37/hg19 20p12.3-12.2(chr20:7856703-11991178)x1 copy number loss not specified [RCV003986129] Chr20:7856703..11991178 [GRCh37]
Chr20:20p12.3-12.2		 pathogenic
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3 copy number gain not provided [RCV003885494] Chr20:68351..16142323 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
NM_017545.3(HAO1):c.788G>A (p.Arg263Gln) single nucleotide variant not specified [RCV004399058] Chr20:7895158 [GRCh38]
Chr20:7875805 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.410G>A (p.Arg137Gln) single nucleotide variant not specified [RCV004399056] Chr20:7914299 [GRCh38]
Chr20:7894946 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.379C>T (p.Arg127Cys) single nucleotide variant not specified [RCV004399055] Chr20:7914330 [GRCh38]
Chr20:7894977 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.267C>A (p.Asp89Glu) single nucleotide variant not specified [RCV004399054] Chr20:7934506 [GRCh38]
Chr20:7915153 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017545.3(HAO1):c.499C>T (p.Arg167Cys) single nucleotide variant not specified [RCV004399057] Chr20:7914210 [GRCh38]
Chr20:7894857 [GRCh37]
Chr20:20p12.3		 uncertain significance
NC_000020.10:g.(?_7812350)_(10654278_?)del deletion Alagille syndrome due to a JAG1 point mutation [RCV004579455]|Developmental and epileptic encephalopathy, 12 [RCV004579456] Chr20:7812350..10654278 [GRCh37]
Chr20:20p12.3-12.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:206
Count of miRNA genes:181
Interacting mature miRNAs:188
Transcripts:ENST00000378789
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643385BW311_HBody weight QTL 311 (human)3.310.0001Body fat amount20734547523289549Human
406929600GWAS578576_Hsusceptibility to common cold measurement QTL GWAS578576 (human)0.000002susceptibility to common cold measurement2079322617932262Human
406965200GWAS614176_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS614176 (human)0.000001severe acute respiratory syndrome, COVID-192079038487903849Human
407264130GWAS913106_Hbody height QTL GWAS913106 (human)7e-31body height (VT:0001253)body height (CMO:0000106)2079246367924637Human
407004103GWAS653079_Hhepatocyte growth factor measurement QTL GWAS653079 (human)0.0000003hepatocyte growth factor measurement2079002437900244Human
407242144GWAS891120_Hbody height QTL GWAS891120 (human)3e-09body height (VT:0001253)body height (CMO:0000106)2078888097888810Human
1643383BW312_HBody weight QTL 312 (human)2.920.0004Body fat amountpercent fat20734547523289549Human
407071468GWAS720444_HQT interval QTL GWAS720444 (human)0.000003QT intervalQT interval (CMO:0000235)2079036137903614Human
407104572GWAS753548_Hprotein measurement QTL GWAS753548 (human)5e-10protein measurement2079211367921137Human

Markers in Region
WI-16702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37207,886,052 - 7,886,161UniSTSGRCh37
Build 36207,834,052 - 7,834,161RGDNCBI36
Celera207,955,628 - 7,955,737RGD
Cytogenetic Map20p12UniSTS
HuRef207,837,038 - 7,837,147UniSTS
GeneMap99-GB4 RH Map2042.97UniSTS
Whitehead-RH Map2050.5UniSTS
RH36339  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37207,863,809 - 7,863,927UniSTSGRCh37
Build 36207,811,809 - 7,811,927RGDNCBI36
Celera207,933,387 - 7,933,505RGD
Cytogenetic Map20p12UniSTS
HuRef207,814,799 - 7,814,917UniSTS
GeneMap99-GB4 RH Map2059.59UniSTS
SHGC-33251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37207,866,358 - 7,866,511UniSTSGRCh37
Build 36207,814,358 - 7,814,511RGDNCBI36
Celera207,935,936 - 7,936,089RGD
Cytogenetic Map20p12UniSTS
HuRef207,817,348 - 7,817,501UniSTS
GeneMap99-GB4 RH Map2053.1UniSTS
Whitehead-RH Map2058.5UniSTS
GeneMap99-G3 RH Map20354.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
257 605 521 450 1540 788 959 509 678 445 327 2266 1631 4 1328 311 771 380 69

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB024079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF231916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF244134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB890852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC948261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000378789   ⟹   ENSP00000368066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl207,882,985 - 7,940,458 (-)Ensembl
RefSeq Acc Id: NM_017545   ⟹   NP_060015
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38207,882,985 - 7,940,458 (-)NCBI
GRCh37207,863,631 - 7,921,093 (-)RGD
Build 36207,811,631 - 7,869,093 (-)NCBI Archive
Celera207,933,209 - 7,990,669 (-)RGD
HuRef207,814,621 - 7,872,059 (-)RGD
CHM1_1207,864,109 - 7,921,570 (-)NCBI
T2T-CHM13v2.0207,924,797 - 7,982,271 (-)NCBI
Sequence:
RefSeq Acc Id: NP_060015   ⟸   NM_017545
- UniProtKB: Q9UPZ0 (UniProtKB/Swiss-Prot),   Q14CQ0 (UniProtKB/Swiss-Prot),   Q9Y3I7 (UniProtKB/Swiss-Prot),   Q9UJM8 (UniProtKB/Swiss-Prot),   A8K058 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000368066   ⟸   ENST00000378789
Protein Domains
FMN hydroxy acid dehydrogenase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UJM8-F1-model_v2 AlphaFold Q9UJM8 1-370 view protein structure

Promoters
RGD ID:13206347
Promoter ID:EPDNEW_H26754
Type:multiple initiation site
Name:HAO1_1
Description:hydroxyacid oxidase 1
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
GRCh38207,940,458 - 7,940,518EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4809 AgrOrtholog
COSMIC HAO1 COSMIC
Ensembl Genes ENSG00000101323 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000378789 ENTREZGENE
  ENST00000378789.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101323 GTEx
HGNC ID HGNC:4809 ENTREZGENE
Human Proteome Map HAO1 Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alpha-hydoxy_acid_DH_FMN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FMN-dep_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FMN_HAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FMN_hydac_DH_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54363 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54363 ENTREZGENE
OMIM 605023 OMIM
PANTHER HYDROXYACID OXIDASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S -2-HYDROXY-ACID OXIDASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FMN_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29185 PharmGKB
PIRSF Al-hdrx_acd_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FMN_HYDROXY_ACID_DH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FMN_HYDROXY_ACID_DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FMN-linked oxidoreductases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K058 ENTREZGENE, UniProtKB/TrEMBL
  HAOX1_HUMAN UniProtKB/Swiss-Prot
  L8E8S6_HUMAN UniProtKB/TrEMBL
  Q14CQ0 ENTREZGENE
  Q9UJM8 ENTREZGENE
  Q9UPZ0 ENTREZGENE
  Q9Y3I7 ENTREZGENE
UniProt Secondary Q14CQ0 UniProtKB/Swiss-Prot
  Q9UPZ0 UniProtKB/Swiss-Prot
  Q9Y3I7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 HAO1  hydroxyacid oxidase 1  HAO1  hydroxyacid oxidase (glycolate oxidase) 1  Symbol and/or name change 5135510 APPROVED