HPD (4-hydroxyphenylpyruvate dioxygenase) - Rat Genome Database
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Gene: HPD (4-hydroxyphenylpyruvate dioxygenase) Homo sapiens
Analyze
Symbol: HPD
Name: 4-hydroxyphenylpyruvate dioxygenase
RGD ID: 731782
HGNC Page HGNC
Description: Exhibits 4-hydroxyphenylpyruvate dioxygenase activity. Involved in tyrosine catabolic process. Localizes to extracellular exosome. Implicated in hawkinsinuria and tyrosinemia type III.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 4-HPPD; 4-hydroxyphenylpyruvic acid dioxygenase; 4-hydroxyphenylpyruvic acid oxidase; 4HPPD; GLOD3; glyoxalase domain containing 3; HPPDASE; PPD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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 Ensembl12121,839,527 - 121,863,596 (-)EnsemblGRCh38hg38GRCh38
GRCh3812121,839,527 - 121,888,611 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712122,277,433 - 122,326,517 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612120,761,816 - 120,781,152 (-)NCBINCBI36hg18NCBI36
Build 3412120,740,154 - 120,759,489NCBI
Celera12121,913,690 - 121,962,455 (-)NCBI
Cytogenetic Map12q24.31NCBI
HuRef12119,289,545 - 119,337,791 (-)NCBIHuRef
CHM1_112122,245,145 - 122,294,160 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:7851880   PMID:8504803   PMID:8521727   PMID:9325050   PMID:10942115   PMID:11073718   PMID:12107413   PMID:12477932   PMID:14702039   PMID:15489334   PMID:17560158   PMID:19056867  
PMID:21572414   PMID:21873635   PMID:21988832   PMID:23251661   PMID:23376485   PMID:23950902   PMID:26186194   PMID:26226126   PMID:26936969   PMID:27342126   PMID:28514442   PMID:31277952  
PMID:31285420   PMID:31537781   PMID:31722428  


Genomics

Comparative Map Data
HPD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12121,839,527 - 121,863,596 (-)EnsemblGRCh38hg38GRCh38
GRCh3812121,839,527 - 121,888,611 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712122,277,433 - 122,326,517 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612120,761,816 - 120,781,152 (-)NCBINCBI36hg18NCBI36
Build 3412120,740,154 - 120,759,489NCBI
Celera12121,913,690 - 121,962,455 (-)NCBI
Cytogenetic Map12q24.31NCBI
HuRef12119,289,545 - 119,337,791 (-)NCBIHuRef
CHM1_112122,245,145 - 122,294,160 (-)NCBICHM1_1
Hpd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395123,309,870 - 123,320,786 (-)NCBIGRCm39mm39
GRCm39 Ensembl5123,309,870 - 123,320,790 (-)Ensembl
GRCm385123,171,807 - 123,182,723 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5123,171,807 - 123,182,727 (-)EnsemblGRCm38mm10GRCm38
MGSCv375123,621,816 - 123,632,695 (-)NCBIGRCm37mm9NCBIm37
MGSCv365123,432,425 - 123,443,305 (-)NCBImm8
Celera5120,267,078 - 120,277,955 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map562.82NCBI
Hpd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21233,381,397 - 33,392,750 (+)NCBI
Rnor_6.0 Ensembl1238,828,444 - 38,839,969 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01238,828,606 - 38,839,956 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01240,729,052 - 40,740,668 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41234,548,320 - 34,558,371 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11234,411,707 - 34,421,759 (+)NCBI
Celera1235,063,212 - 35,073,637 (+)NCBICelera
Cytogenetic Map12q16NCBI
Hpd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554826,586,975 - 6,595,034 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554826,586,975 - 6,595,034 (+)NCBIChiLan1.0ChiLan1.0
HPD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.112122,813,141 - 122,859,815 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12122,813,141 - 122,831,701 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v012119,442,893 - 119,462,171 (-)NCBIMhudiblu_PPA_v0panPan3
HPD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl267,430,933 - 7,440,611 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1267,430,891 - 7,440,643 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
HPD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1430,845,613 - 30,857,667 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11430,845,608 - 30,857,658 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21432,650,996 - 32,662,746 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HPD
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111117,203,844 - 117,246,249 (-)NCBI
ChlSab1.1 Ensembl11117,203,307 - 117,224,038 (-)Ensembl
Hpd
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474722,209,191 - 22,217,665 (-)NCBI

Position Markers
D12S1349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712122,321,068 - 122,321,255UniSTSGRCh37
Build 3612120,805,451 - 120,805,638RGDNCBI36
Celera12121,957,060 - 121,957,245RGD
Cytogenetic Map12q24-qterUniSTS
HuRef12119,332,396 - 119,332,573UniSTS
Marshfield Genetic Map12139.61RGD
Marshfield Genetic Map12139.61UniSTS
Genethon Genetic Map12140.4UniSTS
G60359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712122,321,006 - 122,321,326UniSTSGRCh37
Build 3612120,805,389 - 120,805,709RGDNCBI36
Celera12121,956,998 - 121,957,316RGD
Cytogenetic Map12q24-qterUniSTS
HuRef12119,332,334 - 119,332,644UniSTS
TNG Radiation Hybrid Map1254590.0UniSTS
GDB:455126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712122,286,907 - 122,286,955UniSTSGRCh37
Build 3612120,771,290 - 120,771,338RGDNCBI36
Celera12121,923,157 - 121,923,205RGD
Cytogenetic Map12q24-qterUniSTS
HuRef12119,298,929 - 119,298,977UniSTS
GDB:455130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712122,287,593 - 122,287,676UniSTSGRCh37
Build 3612120,771,976 - 120,772,059RGDNCBI36
Celera5120,440,682 - 120,441,682UniSTS
Celera12121,923,842 - 121,923,925RGD
Cytogenetic Map12q24-qterUniSTS
HuRef12119,299,614 - 119,299,697UniSTS
HuRef5119,673,803 - 119,674,803UniSTS
RK1290_1291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712122,277,447 - 122,277,571UniSTSGRCh37
Build 3612120,761,830 - 120,761,954RGDNCBI36
Celera12121,913,704 - 121,913,828RGD
Cytogenetic Map12q24-qterUniSTS
HuRef12119,289,559 - 119,289,683UniSTS
Whitehead-YAC Contig Map10 UniSTS
STS-U29895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712122,286,891 - 122,287,032UniSTSGRCh37
Build 3612120,771,274 - 120,771,415RGDNCBI36
Celera12121,923,141 - 121,923,282RGD
Cytogenetic Map12q24-qterUniSTS
HuRef12119,298,913 - 119,299,054UniSTS
GeneMap99-GB4 RH Map12470.32UniSTS
NCBI RH Map12768.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1708
Count of miRNA genes:699
Interacting mature miRNAs:829
Transcripts:ENST00000289004, ENST00000535114, ENST00000542159, ENST00000543163, ENST00000543869
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.


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
High 195 195 195 9 1
Medium 31 623 276 233 108 233 120 18 28 159 448 20 17 118
Low 1910 2040 999 65 1161 27 2786 1683 1363 185 889 1360 47 1 1068 1917 2
Below cutoff 464 316 247 126 526 7 1386 464 2229 53 111 202 124 117 730 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000289004   ⟹   ENSP00000289004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12121,839,527 - 121,858,859 (-)Ensembl
RefSeq Acc Id: ENST00000535114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12121,856,598 - 121,858,855 (-)Ensembl
RefSeq Acc Id: ENST00000542159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12121,848,999 - 121,857,583 (-)Ensembl
RefSeq Acc Id: ENST00000543163   ⟹   ENSP00000441677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12121,839,530 - 121,863,596 (-)Ensembl
RefSeq Acc Id: NM_001171993   ⟹   NP_001165464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812121,839,527 - 121,888,611 (-)NCBI
GRCh3712122,277,433 - 122,326,517 (-)ENTREZGENE
HuRef12119,289,545 - 119,337,791 (-)ENTREZGENE
CHM1_112122,245,145 - 122,294,160 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002150   ⟹   NP_002141
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812121,839,527 - 121,858,859 (-)NCBI
GRCh3712122,277,433 - 122,326,517 (-)ENTREZGENE
Build 3612120,761,816 - 120,781,152 (-)NCBI Archive
HuRef12119,289,545 - 119,337,791 (-)ENTREZGENE
CHM1_112122,245,145 - 122,264,121 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001165464   ⟸   NM_001171993
- Peptide Label: isoform 2
- UniProtKB: P32754 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002141   ⟸   NM_002150
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: ENSP00000441677   ⟸   ENST00000543163
RefSeq Acc Id: ENSP00000289004   ⟸   ENST00000289004
Protein Domains
VOC

Promoters
RGD ID:6852862
Promoter ID:EP74248
Type:initiation region
Name:HS_HPD
Description:4-hydroxyphenylpyruvate dioxygenase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 3612120,781,148 - 120,781,208EPD
RGD ID:7225681
Promoter ID:EPDNEW_H18586
Type:multiple initiation site
Name:HPD_1
Description:4-hydroxyphenylpyruvate dioxygenase
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
GRCh3812121,858,859 - 121,858,919EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002150.3(HPD):c.479A>G (p.Tyr160Cys) single nucleotide variant Tyrosinemia type 3 [RCV000001639] Chr12:121849726 [GRCh38]
Chr12:122287632 [GRCh37]
Chr12:12q24.31
pathogenic
NM_002150.3(HPD):c.774T>G (p.Tyr258Ter) single nucleotide variant Tyrosinemia type 3 [RCV000001640] Chr12:121846919 [GRCh38]
Chr12:122284825 [GRCh37]
Chr12:12q24.31
pathogenic
NM_002150.3(HPD):c.600C>G (p.Tyr200Ter) single nucleotide variant Tyrosinemia type 3 [RCV000001641] Chr12:121847211 [GRCh38]
Chr12:122285117 [GRCh37]
Chr12:12q24.31
pathogenic
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) single nucleotide variant Hawkinsinuria [RCV000386406]|Hawkinsinuria [RCV000953322]|Tyrosinemia type 3 [RCV000001642]|not provided [RCV001091863] Chr12:121839998 [GRCh38]
Chr12:122277904 [GRCh37]
Chr12:12q24.31
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_002150.3(HPD):c.97= (p.Thr33=) single nucleotide variant Hawkinsinuria [RCV000001643]|Hawkinsinuria [RCV000530083] Chr12:121857429 [GRCh38]
Chr12:122295335 [GRCh37]
Chr12:12q24.31
pathogenic|benign
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1 copy number loss See cases [RCV000051342] Chr12:120504068..122459718 [GRCh38]
Chr12:120941871..122944265 [GRCh37]
Chr12:119426254..121510218 [NCBI36]
Chr12:12q24.31
pathogenic
GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1 copy number loss See cases [RCV000051343] Chr12:121325874..122505529 [GRCh38]
Chr12:121956483..122990076 [GRCh37]
Chr12:120248060..121556029 [NCBI36]
Chr12:12q24.31
pathogenic
GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1 copy number loss See cases [RCV000051344] Chr12:121471000..122459718 [GRCh38]
Chr12:121956483..122944265 [GRCh37]
Chr12:120393186..121510218 [NCBI36]
Chr12:12q24.31
pathogenic
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 copy number gain See cases [RCV000051981] Chr12:119286893..122638552 [GRCh38]
Chr12:119724698..123123099 [GRCh37]
Chr12:118209081..121689052 [NCBI36]
Chr12:12q24.23-24.31
uncertain significance
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
NC_000012.12:g.(?_121846842)_(121849810_?)del deletion Hawkinsinuria [RCV001032848] Chr12:122284748..122287716 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 copy number gain See cases [RCV000137651] Chr12:120697672..133202490 [GRCh38]
Chr12:121135475..133779076 [GRCh37]
Chr12:119619858..132289149 [NCBI36]
Chr12:12q24.31-24.33
pathogenic
GRCh38/hg38 12q24.31(chr12:121802243-122229509)x3 copy number gain See cases [RCV000139275] Chr12:121802243..122229509 [GRCh38]
Chr12:122240149..122714056 [GRCh37]
Chr12:120724532..121280009 [NCBI36]
Chr12:12q24.31
uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1 copy number loss See cases [RCV000142454] Chr12:120718786..127500215 [GRCh38]
Chr12:121156589..127984760 [GRCh37]
Chr12:119640972..126550713 [NCBI36]
Chr12:12q24.31-24.32
pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_002150.3(HPD):c.15T>G (p.Ser5Arg) single nucleotide variant Hawkinsinuria [RCV000345192]|Tyrosinemia type 3 [RCV000400806]|not provided [RCV000224637] Chr12:121858702 [GRCh38]
Chr12:122296608 [GRCh37]
Chr12:12q24.31
benign
NM_002150.3(HPD):c.836G>A (p.Arg279His) single nucleotide variant Hawkinsinuria [RCV000358858]|Tyrosinemia type 3 [RCV000301673] Chr12:121843828 [GRCh38]
Chr12:122281734 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_002150.3(HPD):c.5C>T (p.Thr2Met) single nucleotide variant Hawkinsinuria [RCV000360086]|Hypertyrosinemia [RCV000305407] Chr12:121858712 [GRCh38]
Chr12:122296618 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.414G>A (p.Thr138=) single nucleotide variant Hawkinsinuria [RCV000327416]|Hawkinsinuria [RCV000545616]|Tyrosinemia type 3 [RCV000365767] Chr12:121854703 [GRCh38]
Chr12:122292609 [GRCh37]
Chr12:12q24.31
benign
NM_002150.3(HPD):c.498G>A (p.Met166Ile) single nucleotide variant Hawkinsinuria [RCV000362382]|Hawkinsinuria [RCV000967705]|Tyrosinemia type 3 [RCV000270114] Chr12:121849707 [GRCh38]
Chr12:122287613 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_002150.3(HPD):c.1018G>T (p.Val340Leu) single nucleotide variant Hawkinsinuria [RCV000290396]|Hawkinsinuria [RCV000530874]|Tyrosinemia type 3 [RCV000382932] Chr12:121839985 [GRCh38]
Chr12:122277891 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_002150.3(HPD):c.93+9C>T single nucleotide variant Hawkinsinuria [RCV000395475]|Tyrosinemia type 3 [RCV000290358] Chr12:121857748 [GRCh38]
Chr12:122295654 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_002150.3(HPD):c.338G>A (p.Arg113Gln) single nucleotide variant Hawkinsinuria [RCV000331069]|Hawkinsinuria [RCV000634920]|Tyrosinemia type 3 [RCV000273694] Chr12:121854779 [GRCh38]
Chr12:122292685 [GRCh37]
Chr12:12q24.31
benign
NM_002150.3(HPD):c.954+14A>C single nucleotide variant Hawkinsinuria [RCV000294352]|Tyrosinemia type 3 [RCV000351642] Chr12:121843696 [GRCh38]
Chr12:122281602 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_002150.3(HPD):c.94-6A>T single nucleotide variant Hawkinsinuria [RCV000348844]|Tyrosinemia type 3 [RCV000293953] Chr12:121857438 [GRCh38]
Chr12:122295344 [GRCh37]
Chr12:12q24.31
benign
NM_002150.3(HPD):c.294C>T (p.Phe98=) single nucleotide variant Hawkinsinuria [RCV000388016]|Tyrosinemia type 3 [RCV000296056] Chr12:121856354 [GRCh38]
Chr12:122294260 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_002150.3(HPD):c.895C>T (p.Leu299=) single nucleotide variant Hawkinsinuria [RCV000400660]|Tyrosinemia type 3 [RCV000336439] Chr12:121843769 [GRCh38]
Chr12:122281675 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_002150.3(HPD):c.914C>T (p.Thr305Met) single nucleotide variant Hawkinsinuria [RCV000400625]|Tyrosinemia type 3 [RCV000297722] Chr12:121843750 [GRCh38]
Chr12:122281656 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_002150.3(HPD):c.765T>C (p.Tyr255=) single nucleotide variant Hawkinsinuria [RCV000266360]|Tyrosinemia type 3 [RCV000305079] Chr12:121846928 [GRCh38]
Chr12:122284834 [GRCh37]
Chr12:12q24.31
benign|uncertain significance
NM_002150.3(HPD):c.*191C>T single nucleotide variant Hawkinsinuria [RCV000268517]|Tyrosinemia type 3 [RCV000325960] Chr12:121839537 [GRCh38]
Chr12:122277443 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.211C>G (p.Leu71Val) single nucleotide variant Hawkinsinuria [RCV000373064]|Tyrosinemia type 3 [RCV000316067] Chr12:121856613 [GRCh38]
Chr12:122294519 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_001171993.1(HPD):c.-115+52A>G single nucleotide variant Hawkinsinuria [RCV000260158]|Hypertyrosinemia [RCV000299023] Chr12:121858873 [GRCh38]
Chr12:122296779 [GRCh37]
Chr12:12q24.31
likely benign
NM_001171993.1(HPD):c.-115+47G>A single nucleotide variant Hawkinsinuria [RCV000262818]|Hypertyrosinemia [RCV000355370] Chr12:121858878 [GRCh38]
Chr12:122296784 [GRCh37]
Chr12:12q24.31
benign
GRCh37/hg19 12q24.31(chr12:121882818-122666131)x1 copy number loss See cases [RCV000446701] Chr12:121882818..122666131 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_002150.3(HPD):c.109T>C (p.Cys37Arg) single nucleotide variant Hawkinsinuria [RCV000634915] Chr12:121857417 [GRCh38]
Chr12:122295323 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.75G>A (p.Trp25Ter) single nucleotide variant Hawkinsinuria [RCV000634916]|Tyrosinemia type 3 [RCV000714861] Chr12:121857775 [GRCh38]
Chr12:122295681 [GRCh37]
Chr12:12q24.31
pathogenic
NC_000012.12:g.(?_121843690)_(121847234_?)del deletion Hawkinsinuria [RCV000634922] Chr12:121843690..121847234 [GRCh38]
Chr12:122281596..122285140 [GRCh37]
Chr12:12q24.31
pathogenic
NM_002150.3(HPD):c.499G>A (p.Asp167Asn) single nucleotide variant Hawkinsinuria [RCV000634918]|not specified [RCV000600241] Chr12:121849706 [GRCh38]
Chr12:122287612 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_002150.3(HPD):c.813C>T (p.Thr271=) single nucleotide variant Hawkinsinuria [RCV000556313] Chr12:121846880 [GRCh38]
Chr12:122284786 [GRCh37]
Chr12:12q24.31
benign
NM_002150.3(HPD):c.1151del (p.Met384fs) deletion Hawkinsinuria [RCV000634914] Chr12:121839759 [GRCh38]
Chr12:122277665 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.760-7C>T single nucleotide variant Hawkinsinuria [RCV000634917] Chr12:121846940 [GRCh38]
Chr12:122284846 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.345C>T (p.Ala115=) single nucleotide variant Hawkinsinuria [RCV000634919]|Hawkinsinuria [RCV001113770]|Tyrosinemia type 3 [RCV001113771] Chr12:121854772 [GRCh38]
Chr12:122292678 [GRCh37]
Chr12:12q24.31
benign
NC_000012.12:g.(?_121839708)_(121840068_?)del deletion Hawkinsinuria [RCV000634921] Chr12:121839708..121840068 [GRCh38]
Chr12:122277614..122277974 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.485C>T (p.Ala162Val) single nucleotide variant Hawkinsinuria [RCV000686929] Chr12:121849720 [GRCh38]
Chr12:122287626 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.544G>A (p.Asp182Asn) single nucleotide variant Hawkinsinuria [RCV000695207] Chr12:121849051 [GRCh38]
Chr12:122286957 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.43C>T (p.Arg15Ter) single nucleotide variant Hawkinsinuria [RCV000690834] Chr12:121857807 [GRCh38]
Chr12:122295713 [GRCh37]
Chr12:12q24.31
pathogenic
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_002150.3(HPD):c.97A>G (p.Thr33Ala) single nucleotide variant Hawkinsinuria [RCV000988927] Chr12:121857429 [GRCh38]
Chr12:122295335 [GRCh37]
Chr12:12q24.31
benign
NM_002150.3(HPD):c.222G>T (p.Ala74=) single nucleotide variant not provided [RCV000928472] Chr12:121856602 [GRCh38]
Chr12:122294508 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.978C>T (p.Tyr326=) single nucleotide variant not provided [RCV000927520] Chr12:121840025 [GRCh38]
Chr12:122277931 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.955-7C>G single nucleotide variant Hawkinsinuria [RCV000892593] Chr12:121840055 [GRCh38]
Chr12:122277961 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.898C>A (p.Arg300=) single nucleotide variant not provided [RCV000884595] Chr12:121843766 [GRCh38]
Chr12:122281672 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.966C>A (p.Ile322=) single nucleotide variant not provided [RCV000901398] Chr12:121840037 [GRCh38]
Chr12:122277943 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.531T>C (p.Ser177=) single nucleotide variant not provided [RCV000924680] Chr12:121849064 [GRCh38]
Chr12:122286970 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.274G>A (p.Gly92Arg) single nucleotide variant Hawkinsinuria [RCV001036770] Chr12:121856374 [GRCh38]
Chr12:122294280 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.898C>T (p.Arg300Trp) single nucleotide variant Hawkinsinuria [RCV001050240] Chr12:121843766 [GRCh38]
Chr12:122281672 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.61T>C (p.Ser21Pro) single nucleotide variant Hawkinsinuria [RCV001068610] Chr12:121857789 [GRCh38]
Chr12:122295695 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.561C>G (p.Asn187Lys) single nucleotide variant Hawkinsinuria [RCV001060068] Chr12:121849034 [GRCh38]
Chr12:122286940 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.574G>A (p.Glu192Lys) single nucleotide variant Hawkinsinuria [RCV001060069] Chr12:121849021 [GRCh38]
Chr12:122286927 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.158dup (p.Ser54fs) duplication Hawkinsinuria [RCV000796401] Chr12:121857367..121857368 [GRCh38]
Chr12:122295273..122295274 [GRCh37]
Chr12:12q24.31
pathogenic
NM_002150.3(HPD):c.1038C>T (p.Leu346=) single nucleotide variant not provided [RCV000895172] Chr12:121839965 [GRCh38]
Chr12:122277871 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.342C>T (p.Gly114=) single nucleotide variant Hawkinsinuria [RCV000968291] Chr12:121854775 [GRCh38]
Chr12:122292681 [GRCh37]
Chr12:12q24.31
benign
NM_002150.3(HPD):c.759+8C>T single nucleotide variant not provided [RCV000916060] Chr12:121847044 [GRCh38]
Chr12:122284950 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.882G>A (p.Thr294=) single nucleotide variant not provided [RCV000920730] Chr12:121843782 [GRCh38]
Chr12:122281688 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.249C>T (p.Gly83=) single nucleotide variant Hawkinsinuria [RCV000897535] Chr12:121856399 [GRCh38]
Chr12:122294305 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.1120G>A (p.Glu374Lys) single nucleotide variant Hawkinsinuria [RCV000791567] Chr12:121839790 [GRCh38]
Chr12:122277696 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.156C>T (p.Thr52=) single nucleotide variant Hawkinsinuria [RCV000916014] Chr12:121857370 [GRCh38]
Chr12:122295276 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.104T>C (p.Phe35Ser) single nucleotide variant Hawkinsinuria [RCV000791568] Chr12:121857422 [GRCh38]
Chr12:122295328 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.831G>A (p.Ala277=) single nucleotide variant not provided [RCV001091864] Chr12:121846862 [GRCh38]
Chr12:122284768 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.543C>T (p.Ile181=) single nucleotide variant Hawkinsinuria [RCV001112427]|Tyrosinemia type 3 [RCV001112426] Chr12:121849052 [GRCh38]
Chr12:122286958 [GRCh37]
Chr12:12q24.31
benign|uncertain significance
NM_002150.3(HPD):c.518+3G>A single nucleotide variant Hawkinsinuria [RCV001112428]|Tyrosinemia type 3 [RCV001112429] Chr12:121849684 [GRCh38]
Chr12:122287590 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.915G>A (p.Thr305=) single nucleotide variant Hawkinsinuria [RCV001111973]|Tyrosinemia type 3 [RCV001111972] Chr12:121843749 [GRCh38]
Chr12:122281655 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.*82T>C single nucleotide variant Hawkinsinuria [RCV001113687]|Tyrosinemia type 3 [RCV001113686] Chr12:121839646 [GRCh38]
Chr12:122277552 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.*65A>G single nucleotide variant Hawkinsinuria [RCV001113690]|Tyrosinemia type 3 [RCV001113691] Chr12:121839663 [GRCh38]
Chr12:122277569 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.941T>C (p.Ile314Thr) single nucleotide variant Hawkinsinuria [RCV001247622] Chr12:121843723 [GRCh38]
Chr12:122281629 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.1121A>T (p.Glu374Val) single nucleotide variant Hawkinsinuria [RCV001204844] Chr12:121839789 [GRCh38]
Chr12:122277695 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1 copy number loss not provided [RCV000848395] Chr12:122169403..129084163 [GRCh37]
Chr12:12q24.31-24.32
pathogenic
NM_002150.3(HPD):c.92A>G (p.Gln31Arg) single nucleotide variant Hawkinsinuria [RCV001110545]|Tyrosinemia type 3 [RCV001110544] Chr12:121857758 [GRCh38]
Chr12:122295664 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.972G>A (p.Val324=) single nucleotide variant not provided [RCV000908435] Chr12:121840031 [GRCh38]
Chr12:122277937 [GRCh37]
Chr12:12q24.31
likely benign
NM_002150.3(HPD):c.852_853del (p.Gly285fs) microsatellite Hawkinsinuria [RCV001226133] Chr12:121843811..121843812 [GRCh38]
Chr12:122281717..122281718 [GRCh37]
Chr12:12q24.31
pathogenic
NM_002150.3(HPD):c.634G>A (p.Val212Met) single nucleotide variant Hawkinsinuria [RCV001050143] Chr12:121847177 [GRCh38]
Chr12:122285083 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.1165G>C (p.Val389Leu) single nucleotide variant Hawkinsinuria [RCV001113693]|Tyrosinemia type 3 [RCV001113692] Chr12:121839745 [GRCh38]
Chr12:122277651 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.1108G>A (p.Ala370Thr) single nucleotide variant Hawkinsinuria [RCV001109666]|Tyrosinemia type 3 [RCV001109665] Chr12:121839802 [GRCh38]
Chr12:122277708 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_002150.3(HPD):c.1061A>G (p.His354Arg) single nucleotide variant Hawkinsinuria [RCV001109667]|Tyrosinemia type 3 [RCV001109668] Chr12:121839942 [GRCh38]
Chr12:122277848 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.415T>A (p.Tyr139Asn) single nucleotide variant Hawkinsinuria [RCV001245847] Chr12:121849790 [GRCh38]
Chr12:122287696 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.*190G>T single nucleotide variant Hawkinsinuria [RCV001112332]|Tyrosinemia type 3 [RCV001112331] Chr12:121839538 [GRCh38]
Chr12:122277444 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.1049T>C (p.Val350Ala) single nucleotide variant Global developmental delay [RCV001003605] Chr12:121839954 [GRCh38]
Chr12:122277860 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_002150.3(HPD):c.1016C>G (p.Pro339Arg) single nucleotide variant Hawkinsinuria [RCV001235563] Chr12:121839987 [GRCh38]
Chr12:122277893 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.1159A>G (p.Asn387Asp) single nucleotide variant Hawkinsinuria [RCV001206095] Chr12:121839751 [GRCh38]
Chr12:122277657 [GRCh37]
Chr12:12q24.31
uncertain significance
NC_000012.12:g.121839526A>T single nucleotide variant Hawkinsinuria [RCV001112330]|Tyrosinemia type 3 [RCV001112329] Chr12:121839526 [GRCh38]
Chr12:122277432 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.*69C>T single nucleotide variant Hawkinsinuria [RCV001113689]|Tyrosinemia type 3 [RCV001113688] Chr12:121839659 [GRCh38]
Chr12:122277565 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.778G>A (p.Gly260Arg) single nucleotide variant Hawkinsinuria [RCV001204845] Chr12:121846915 [GRCh38]
Chr12:122284821 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_002150.3(HPD):c.722A>G (p.Asn241Ser) single nucleotide variant Hawkinsinuria [RCV001258320] Chr12:121847089 [GRCh38]
Chr12:122284995 [GRCh37]
Chr12:12q24.31
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5147 AgrOrtholog
COSMIC HPD COSMIC
Ensembl Genes ENSG00000158104 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000289004 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000441677 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000289004 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000543163 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.180.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158104 GTEx
HGNC ID HGNC:5147 ENTREZGENE
Human Proteome Map HPD Human Proteome Map
InterPro 4OHPhenylPyrv_dOase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4OHPhenylPyrv_dOase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4OHPhenylPyrv_dOase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyas_Bleomycin-R_OHBP_Dase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyas_Fos-R_dOase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VOC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3242 UniProtKB/Swiss-Prot
NCBI Gene 3242 ENTREZGENE
OMIM 140350 OMIM
  276710 OMIM
  609695 OMIM
PANTHER PTHR11959 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyoxalase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29420 PharmGKB
PIRSF HPP_dOase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE VOC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54593 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs 4HPPD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B4J1R4_HUMAN UniProtKB/TrEMBL
  HPPD_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K461 UniProtKB/Swiss-Prot
  B3KQ63 UniProtKB/Swiss-Prot
  Q13234 UniProtKB/Swiss-Prot