CleftGeneDB-Search

Gene: HAAO

Basic information

Tag	Content
Uniprot ID	P46952; A6NE56; B4DIN2; Q53QZ7; Q8N6N9;
Entrez ID	23498
Genbank protein ID	BAG58544.1; CAG33344.1; EAX00309.1; AAY14701.1; AAH29510.1; CAA82618.1;
Genbank nucleotide ID	NM_012205.2
Ensembl protein ID	ENSP00000294973
Ensembl nucleotide ID	ENSG00000162882
Gene name	3-hydroxyanthranilate 3,4-dioxygenase
Gene symbol	HAAO
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate.
Sequence	MERRLGVRAW VKENRGSFQP PVCNKLMHQE QLKVMFIGGP NTRKDYHIEE GEEVFYQLEG 60 DMVLRVLEQG KHRDVVIRQG EIFLLPARVP HSPQRFANTV GLVVERRRLE TELDGLRYYV 120 GDTMDVLFEK WFYCKDLGTQ LAPIIQEFFS SEQYRTGKPI PDQLLKEPPF PLSTRSIMEP 180 MSLDAWLDSH HRELQAGTPL SLFGDTYETQ VIAYGQGSSE GLRQNVDVWL WQLEGSSVVT 240 MGGRRLSLAP DDSLLVLAGT SYAWERTQGS VALSVTQDPA CKKPLG 286

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2QNK
5TK5
5TKQ
2QNK
5TK5

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	HAAO	510602	Q0VCA8		Bos taurus	Prediction	More>>
1:1 ortholog	HAAO	102187775	A0A452EKB2		Capra hircus	Prediction	More>>
1:1 ortholog	HAAO	23498	P46952		Homo sapiens	Prediction	More>>
1:1 ortholog	Haao	107766	Q78JT3	CPO	Mus musculus	Publication	More>>
1:1 ortholog	HAAO	737730	A0A2I3TGC8		Pan troglodytes	Prediction	More>>
1:1 ortholog	HAAO		G1TAA6		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Haao		A0A0G2JSV5		Rattus norvegicus	Prediction	More>>
1:1 ortholog	haao	492518	F1QYC7		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs747213847	p.Glu2Lys	missense variant	-	NC_000002.12:g.42792533C>T	ExAC,gnomAD
rs773185639	p.Arg3Ser	missense variant	-	NC_000002.12:g.42792530G>T	ExAC,TOPMed,gnomAD
rs773185639	p.Arg3Cys	missense variant	-	NC_000002.12:g.42792530G>A	ExAC,TOPMed,gnomAD
rs1387088434	p.Arg4Leu	missense variant	-	NC_000002.12:g.42792526C>A	gnomAD
rs765416653	p.Leu5Pro	missense variant	-	NC_000002.12:g.42792523A>G	TOPMed
rs765416653	p.Leu5Arg	missense variant	-	NC_000002.12:g.42792523A>C	TOPMed
rs748073110	p.Val7Met	missense variant	-	NC_000002.12:g.42792518C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg8Met	missense variant	-	NC_000002.12:g.42792514C>A	NCI-TCGA
rs778987144	p.Arg8Ser	missense variant	-	NC_000002.12:g.42792513C>G	ExAC,gnomAD
rs1479834512	p.Ala9Asp	missense variant	-	NC_000002.12:g.42792511G>T	TOPMed,gnomAD
rs151014776	p.Trp10Ter	stop gained	-	NC_000002.12:g.42792507C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs941399527	p.Trp10Ser	missense variant	-	NC_000002.12:g.42792508C>G	TOPMed,gnomAD
rs151014776	p.Trp10Cys	missense variant	-	NC_000002.12:g.42792507C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1038331208	p.Trp10Gly	missense variant	-	NC_000002.12:g.42792509A>C	TOPMed
rs749104598	p.Glu13Gln	missense variant	-	NC_000002.12:g.42792500C>G	ExAC,TOPMed,gnomAD
rs1313568656	p.Asn14His	missense variant	-	NC_000002.12:g.42792497T>G	gnomAD
rs1245249111	p.Asn14Thr	missense variant	-	NC_000002.12:g.42792496T>G	gnomAD
rs755747689	p.Arg15Trp	missense variant	-	NC_000002.12:g.42792494G>A	ExAC,gnomAD
rs755747689	p.Arg15Gly	missense variant	-	NC_000002.12:g.42792494G>C	ExAC,gnomAD
rs750070843	p.Gly16Ala	missense variant	-	NC_000002.12:g.42792490C>G	ExAC,TOPMed,gnomAD
rs750070843	p.Gly16Val	missense variant	-	NC_000002.12:g.42792490C>A	ExAC,TOPMed,gnomAD
COSM1408105	p.Gly16Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42792490C>T	NCI-TCGA Cosmic
rs372375191	p.Ser17Phe	missense variant	-	NC_000002.12:g.42792487G>A	ESP,ExAC,TOPMed,gnomAD
rs1389871304	p.Ser17Thr	missense variant	-	NC_000002.12:g.42792488A>T	gnomAD
rs1367308840	p.Pro20Arg	missense variant	-	NC_000002.12:g.42792478G>C	gnomAD
rs1367308840	p.Pro20Leu	missense variant	-	NC_000002.12:g.42792478G>A	gnomAD
rs199602527	p.Pro21Leu	missense variant	-	NC_000002.12:g.42792475G>A	1000Genomes,ExAC,gnomAD
rs1161601413	p.Pro21Ala	missense variant	-	NC_000002.12:g.42792476G>C	gnomAD
rs199602527	p.Pro21Arg	missense variant	-	NC_000002.12:g.42792475G>C	1000Genomes,ExAC,gnomAD
rs759969114	p.Val22Leu	missense variant	-	NC_000002.12:g.42792473C>G	ExAC,TOPMed,gnomAD
rs766679141	p.Cys23Tyr	missense variant	-	NC_000002.12:g.42792469C>T	ExAC,gnomAD
NCI-TCGA novel	p.His28Tyr	missense variant	-	NC_000002.12:g.42788606G>A	NCI-TCGA
NCI-TCGA novel	p.Gln29Ter	stop gained	-	NC_000002.12:g.42788603G>A	NCI-TCGA
COSM3581685	p.Glu30Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42788600C>T	NCI-TCGA Cosmic
rs750800904	p.Leu32Ile	missense variant	-	NC_000002.12:g.42788594G>T	ExAC,gnomAD
rs767729071	p.Leu32Pro	missense variant	-	NC_000002.12:g.42788593A>G	ExAC,TOPMed,gnomAD
rs1460139101	p.Met35Leu	missense variant	-	NC_000002.12:g.42788585T>A	TOPMed,gnomAD
rs751802918	p.Met35Ile	missense variant	-	NC_000002.12:g.42788583C>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe36Leu	missense variant	-	NC_000002.12:g.42788582A>G	NCI-TCGA
rs3816183	p.Ile37Val	missense variant	-	NC_000002.12:g.42788579T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1325822027	p.Gly38Glu	missense variant	-	NC_000002.12:g.42788575C>T	gnomAD
rs775376402	p.Gly38Arg	missense variant	-	NC_000002.12:g.42788576C>T	ExAC,TOPMed,gnomAD
rs1454175501	p.Pro40Ser	missense variant	-	NC_000002.12:g.42788570G>A	TOPMed,gnomAD
rs769775981	p.Asn41Ser	missense variant	-	NC_000002.12:g.42788566T>C	ExAC,TOPMed,gnomAD
rs3816182	p.Thr42Ser	missense variant	-	NC_000002.12:g.42788564T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1048768411	p.Thr42Ile	missense variant	-	NC_000002.12:g.42788563G>A	TOPMed,gnomAD
rs3816182	p.Thr42Ala	missense variant	-	NC_000002.12:g.42788564T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1048768411	p.Thr42Ser	missense variant	-	NC_000002.12:g.42788563G>C	TOPMed,gnomAD
rs565558600	p.Asp45Glu	missense variant	-	NC_000002.12:g.42788553G>C	1000Genomes,ExAC,gnomAD
COSM3581684	p.His47Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42788549G>A	NCI-TCGA Cosmic
rs200729980	p.Ile48Asn	missense variant	-	NC_000002.12:g.42788545A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs140941826	p.Ile48Met	missense variant	-	NC_000002.12:g.42788544G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu49Lys	missense variant	-	NC_000002.12:g.42788543C>T	NCI-TCGA
rs373632713	p.Glu50Asp	missense variant	-	NC_000002.12:g.42788538C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly51Asp	missense variant	-	NC_000002.12:g.42788536C>T	NCI-TCGA
rs750877175	p.Glu52Lys	missense variant	-	NC_000002.12:g.42788534C>T	ExAC,TOPMed,gnomAD
rs757695001	p.Glu53Asp	missense variant	-	NC_000002.12:g.42788529C>G	ExAC,gnomAD
rs377670923	p.Glu53Ter	stop gained	-	NC_000002.12:g.42788531C>A	ESP,ExAC,gnomAD
rs147350952	p.Val54Ile	missense variant	-	NC_000002.12:g.42783867C>T	ESP,ExAC,TOPMed,gnomAD
rs1405984908	p.Tyr56Cys	missense variant	-	NC_000002.12:g.42783860T>C	gnomAD
rs760537122	p.Tyr56His	missense variant	-	NC_000002.12:g.42783861A>G	ExAC,TOPMed,gnomAD
rs1047319456	p.Tyr56Ter	stop gained	-	NC_000002.12:g.42783859G>C	TOPMed
rs767247190	p.Gly60Val	missense variant	-	NC_000002.12:g.42783848C>A	ExAC,gnomAD
rs1269307205	p.Asp61His	missense variant	-	NC_000002.12:g.42783846C>G	TOPMed,gnomAD
rs1269307205	p.Asp61Asn	missense variant	-	NC_000002.12:g.42783846C>T	TOPMed,gnomAD
rs1165733213	p.Asp61Glu	missense variant	-	NC_000002.12:g.42783844G>T	TOPMed
rs1418570526	p.Met62Ile	missense variant	-	NC_000002.12:g.42783841C>T	TOPMed
rs761570082	p.Val63Asp	missense variant	-	NC_000002.12:g.42783839A>T	ExAC,gnomAD
COSM1483096	p.Val63Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42783840C>G	NCI-TCGA Cosmic
rs773874847	p.Arg65Ter	stop gained	-	NC_000002.12:g.42783834G>A	ExAC,TOPMed,gnomAD
rs149516535	p.Arg65Gln	missense variant	-	NC_000002.12:g.42783833C>T	ESP,ExAC,TOPMed,gnomAD
rs1318227711	p.Val66Ile	missense variant	-	NC_000002.12:g.42783831C>T	gnomAD
rs199652625	p.Leu67Val	missense variant	-	NC_000002.12:g.42783828G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1323858112	p.Glu68Val	missense variant	-	NC_000002.12:g.42783824T>A	gnomAD
rs138010581	p.His72Gln	missense variant	-	NC_000002.12:g.42783811G>C	ESP,TOPMed,gnomAD
rs138010581	p.His72Gln	missense variant	-	NC_000002.12:g.42783811G>T	ESP,TOPMed,gnomAD
COSM3372785	p.His72Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42783812T>A	NCI-TCGA Cosmic
rs34183220	p.Arg73Trp	missense variant	-	NC_000002.12:g.42783810G>A	ExAC,TOPMed,gnomAD
rs200223520	p.Arg73Gln	missense variant	-	NC_000002.12:g.42783809C>T	ExAC,TOPMed,gnomAD
rs200223520	p.Arg73Leu	missense variant	-	NC_000002.12:g.42783809C>A	ExAC,TOPMed,gnomAD
rs758658233	p.Val75Met	missense variant	-	NC_000002.12:g.42783804C>T	ExAC,gnomAD
rs369005564	p.Val76Ile	missense variant	-	NC_000002.12:g.42783801C>T	ESP,ExAC,TOPMed,gnomAD
rs369005564	p.Val76Leu	missense variant	-	NC_000002.12:g.42783801C>G	ESP,ExAC,TOPMed,gnomAD
rs957175192	p.Ile77Asn	missense variant	-	NC_000002.12:g.42783797A>T	TOPMed,gnomAD
rs778988203	p.Ile77Leu	missense variant	-	NC_000002.12:g.42783798T>G	ExAC,gnomAD
rs780063763	p.Arg78Leu	missense variant	-	NC_000002.12:g.42783794C>A	ExAC,gnomAD
rs780063763	p.Arg78Gln	missense variant	-	NC_000002.12:g.42783794C>T	ExAC,gnomAD
rs138265146	p.Arg78Trp	missense variant	-	NC_000002.12:g.42783795G>A	ESP,ExAC,TOPMed,gnomAD
rs750333548	p.Gln79Lys	missense variant	-	NC_000002.12:g.42783792G>T	ExAC,gnomAD
rs1486834683	p.Glu81Ter	stop gained	-	NC_000002.12:g.42783786C>A	gnomAD
rs1424693939	p.Ile82Val	missense variant	-	NC_000002.12:g.42783420T>C	TOPMed,gnomAD
rs1386540093	p.Pro86Thr	missense variant	-	NC_000002.12:g.42783408G>T	gnomAD
rs1181265039	p.Ala87Val	missense variant	-	NC_000002.12:g.42783404G>A	gnomAD
rs1422876322	p.Arg88Ser	missense variant	-	NC_000002.12:g.42783400C>G	gnomAD
rs751343806	p.Val89Ala	missense variant	-	NC_000002.12:g.42783398A>G	ExAC,gnomAD
rs1179263312	p.Pro90Ser	missense variant	-	NC_000002.12:g.42783396G>A	TOPMed,gnomAD
rs1179263312	p.Pro90Thr	missense variant	-	NC_000002.12:g.42783396G>T	TOPMed,gnomAD
rs762562016	p.Pro93Arg	missense variant	-	NC_000002.12:g.42783386G>C	ExAC
rs902143587	p.Gln94Glu	missense variant	-	NC_000002.12:g.42783384G>C	TOPMed,gnomAD
rs902143587	p.Gln94Ter	stop gained	-	NC_000002.12:g.42783384G>A	TOPMed,gnomAD
rs140475049	p.Arg95Ser	missense variant	-	NC_000002.12:g.42783379C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1244224815	p.Ala97Thr	missense variant	-	NC_000002.12:g.42783375C>T	gnomAD
rs759103777	p.Val100Met	missense variant	-	NC_000002.12:g.42783366C>T	ExAC,gnomAD
rs372480367	p.Val103Leu	missense variant	-	NC_000002.12:g.42783357C>G	ESP,ExAC,TOPMed,gnomAD
rs772460775	p.Val103Ala	missense variant	-	NC_000002.12:g.42783356A>G	ExAC,TOPMed,gnomAD
rs1202463615	p.Glu105Gly	missense variant	-	NC_000002.12:g.42783350T>C	gnomAD
COSM461023	p.Glu105Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42783351C>T	NCI-TCGA Cosmic
rs1367447151	p.Arg106Gln	missense variant	-	NC_000002.12:g.42783347C>T	TOPMed,gnomAD
rs967279547	p.Arg106Ter	stop gained	-	NC_000002.12:g.42783348G>A	TOPMed,gnomAD
rs1363954556	p.Arg108Gln	missense variant	-	NC_000002.12:g.42783341C>T	TOPMed,gnomAD
rs753918516	p.Arg108Trp	missense variant	-	NC_000002.12:g.42783342G>A	ExAC,TOPMed,gnomAD
rs780245910	p.Leu109Met	missense variant	-	NC_000002.12:g.42783339G>T	ExAC,gnomAD
rs1251506828	p.Thr111Asn	missense variant	-	NC_000002.12:g.42783332G>T	gnomAD
rs1251506828	p.Thr111Ile	missense variant	-	NC_000002.12:g.42783332G>A	gnomAD
rs200550819	p.Glu112Gly	missense variant	-	NC_000002.12:g.42783329T>C	1000Genomes,ExAC,gnomAD
rs535861822	p.Glu112Lys	missense variant	-	NC_000002.12:g.42783330C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs757166545	p.Glu112Asp	missense variant	-	NC_000002.12:g.42783328C>G	ExAC,TOPMed,gnomAD
rs535861822	p.Glu112Ter	stop gained	-	NC_000002.12:g.42783330C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu113Ile	missense variant	-	NC_000002.12:g.42783327G>T	NCI-TCGA
rs777470523	p.Leu113Pro	missense variant	-	NC_000002.12:g.42783326A>G	ExAC,gnomAD
rs780731532	p.Leu113Val	missense variant	-	NC_000002.12:g.42783327G>C	ExAC,gnomAD
COSM1494897	p.Gly115Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42783321C>T	NCI-TCGA Cosmic
rs1237129539	p.Arg117Gly	missense variant	-	NC_000002.12:g.42783315T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val120Ala	missense variant	-	NC_000002.12:g.42770574A>G	NCI-TCGA
rs1443470051	p.Gly121Asp	missense variant	-	NC_000002.12:g.42770571C>T	TOPMed
rs746987361	p.Gly121Ser	missense variant	-	NC_000002.12:g.42770572C>T	ExAC,gnomAD
rs936598280	p.Asp122Asn	missense variant	-	NC_000002.12:g.42770569C>T	TOPMed,gnomAD
rs758353167	p.Thr123Ile	missense variant	-	NC_000002.12:g.42770565G>A	ExAC,TOPMed,gnomAD
rs758353167	p.Thr123Asn	missense variant	-	NC_000002.12:g.42770565G>T	ExAC,TOPMed,gnomAD
rs569371046	p.Met124Thr	missense variant	-	NC_000002.12:g.42770562A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1053125533	p.Val126Ile	missense variant	-	NC_000002.12:g.42770557C>T	TOPMed,gnomAD
rs1291869178	p.Phe128Ser	missense variant	-	NC_000002.12:g.42770550A>G	gnomAD
rs1229597230	p.Glu129Ter	stop gained	-	NC_000002.12:g.42770548C>A	gnomAD
rs201129834	p.Tyr133Ter	stop gained	-	NC_000002.12:g.42770534G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1427230601	p.Cys134Tyr	missense variant	-	NC_000002.12:g.42770532C>T	TOPMed
rs1283240289	p.Cys134Arg	missense variant	-	NC_000002.12:g.42770533A>G	gnomAD
rs1306620502	p.Asp136Glu	missense variant	-	NC_000002.12:g.42770525G>T	gnomAD
rs1443336014	p.Asp136Asn	missense variant	-	NC_000002.12:g.42770527C>T	gnomAD
rs1337925962	p.Asp136Gly	missense variant	-	NC_000002.12:g.42770526T>C	gnomAD
rs753503970	p.Gly138Ser	missense variant	-	NC_000002.12:g.42770521C>T	ExAC,gnomAD
rs947881564	p.Thr139Met	missense variant	-	NC_000002.12:g.42770517G>A	TOPMed
rs1403681005	p.Gln140Arg	missense variant	-	NC_000002.12:g.42770514T>C	gnomAD
rs1159385358	p.Leu141Phe	missense variant	-	NC_000002.12:g.42770510C>G	TOPMed,gnomAD
rs1413287614	p.Leu141Met	missense variant	-	NC_000002.12:g.42770512A>T	TOPMed,gnomAD
rs917640070	p.Ala142Val	missense variant	-	NC_000002.12:g.42770508G>A	TOPMed,gnomAD
rs992351275	p.Pro143Leu	missense variant	-	NC_000002.12:g.42770505G>A	TOPMed,gnomAD
COSM4828736	p.Ile144Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42770501G>C	NCI-TCGA Cosmic
rs548981352	p.Ile145Thr	missense variant	-	NC_000002.12:g.42770499A>G	1000Genomes,ExAC,gnomAD
rs1482682349	p.Ile145Met	missense variant	-	NC_000002.12:g.42770498G>C	gnomAD
rs961684946	p.Gln146His	missense variant	-	NC_000002.12:g.42770495C>G	TOPMed
rs748957756	p.Glu147Asp	missense variant	-	NC_000002.12:g.42770186C>A	ExAC,TOPMed,gnomAD
rs1274329421	p.Ser150Ile	missense variant	-	NC_000002.12:g.42770178C>A	gnomAD
rs1363149067	p.Ser151Phe	missense variant	-	NC_000002.12:g.42770175G>A	gnomAD
rs372925453	p.Ser151Pro	missense variant	-	NC_000002.12:g.42770176A>G	ESP,TOPMed,gnomAD
rs755657772	p.Gln153Arg	missense variant	-	NC_000002.12:g.42770169T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg155Ile	missense variant	-	NC_000002.12:g.42770163C>A	NCI-TCGA
rs1304310844	p.Arg155Lys	missense variant	-	NC_000002.12:g.42770163C>T	gnomAD
rs1044985475	p.Lys158Glu	missense variant	-	NC_000002.12:g.42770155T>C	TOPMed
rs1256442710	p.Ile160Asn	missense variant	-	NC_000002.12:g.42770148A>T	TOPMed
rs1012600882	p.Ile160Met	missense variant	-	NC_000002.12:g.42770147G>C	TOPMed
rs1193841315	p.Asp162His	missense variant	-	NC_000002.12:g.42770143C>G	TOPMed
RCV000496188	p.Asp162Ter	nonsense	-	-	ClinVar
RCV000505810	p.Asp162Ter	nonsense	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (VCRL1)	-	ClinVar
VAR_080252	p.Asp162_Gly286del	inframe_deletion	Vertebral, cardiac, renal, and limb defects syndrome 1 (VCRL1) [MIM:617660]	-	UniProt
rs1482354606	p.Gln163Arg	missense variant	-	NC_000002.12:g.42769855T>C	gnomAD
rs1158610917	p.Leu164Arg	missense variant	-	NC_000002.12:g.42769852A>C	TOPMed
rs188858795	p.Leu165Val	missense variant	-	NC_000002.12:g.42769850G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs779405314	p.Glu167Lys	missense variant	-	NC_000002.12:g.42769844C>T	ExAC,gnomAD
rs755371631	p.Pro168Leu	missense variant	-	NC_000002.12:g.42769840G>A	ExAC,gnomAD
rs754260181	p.Pro171Leu	missense variant	-	NC_000002.12:g.42769831G>A	ExAC,gnomAD
rs1288731945	p.Leu172Val	missense variant	-	NC_000002.12:g.42769829G>C	gnomAD
rs142300589	p.Arg175Pro	missense variant	-	NC_000002.12:g.42769819C>G	ESP,ExAC,TOPMed,gnomAD
rs201390678	p.Arg175Ter	stop gained	-	NC_000002.12:g.42769820G>A	ExAC,TOPMed,gnomAD
rs142300589	p.Arg175Gln	missense variant	-	NC_000002.12:g.42769819C>T	ESP,ExAC,TOPMed,gnomAD
rs944388409	p.Ile177Thr	missense variant	-	NC_000002.12:g.42769813A>G	TOPMed,gnomAD
rs1449409636	p.Ile177Phe	missense variant	-	NC_000002.12:g.42769814T>A	gnomAD
rs767770795	p.Glu179Lys	missense variant	-	NC_000002.12:g.42769808C>T	ExAC,gnomAD
rs767770795	p.Glu179Gln	missense variant	-	NC_000002.12:g.42769808C>G	ExAC,gnomAD
rs1291330786	p.Met181Ile	missense variant	-	NC_000002.12:g.42769800C>T	gnomAD
rs1457095400	p.Ser182Pro	missense variant	-	NC_000002.12:g.42769799A>G	gnomAD
rs1305764755	p.Leu183Pro	missense variant	-	NC_000002.12:g.42769795A>G	TOPMed
rs774509819	p.Leu183Val	missense variant	-	NC_000002.12:g.42769796G>C	ExAC,TOPMed,gnomAD
rs768673234	p.Asp184Gly	missense variant	-	NC_000002.12:g.42769792T>C	ExAC,gnomAD
rs543681141	p.Ala185Thr	missense variant	-	NC_000002.12:g.42769790C>T	1000Genomes,ExAC,gnomAD
rs373856872	p.Ala185Gly	missense variant	-	NC_000002.12:g.42769789G>C	ESP,ExAC,TOPMed
RCV000496104	p.Trp186Ter	nonsense	-	NC_000002.12:g.42769785C>T	ClinVar
RCV000505813	p.Trp186Ter	nonsense	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (VCRL1)	NC_000002.12:g.42769785C>T	ClinVar
NCI-TCGA novel	p.Trp186Cys	missense variant	-	NC_000002.12:g.42769785C>G	NCI-TCGA
rs1135401743	p.Trp186Ter	stop gained	-	NC_000002.12:g.42769785C>T	gnomAD
rs371208214	p.Trp186Ter	stop gained	-	NC_000002.12:g.42769786C>T	ESP,ExAC,TOPMed,gnomAD
rs1135401743	p.Trp186Cys	missense variant	-	NC_000002.12:g.42769785C>A	gnomAD
VAR_080253	p.Trp186_Gly286del	inframe_deletion	Vertebral, cardiac, renal, and limb defects syndrome 1 (VCRL1) [MIM:617660]	-	UniProt
rs1270258089	p.His190Gln	missense variant	-	NC_000002.12:g.42769773G>C	gnomAD
rs1208522653	p.His191Arg	missense variant	-	NC_000002.12:g.42769771T>C	TOPMed
rs1210319675	p.Arg192Trp	missense variant	-	NC_000002.12:g.42769769T>A	gnomAD
rs1326843080	p.Arg192Thr	missense variant	-	NC_000002.12:g.42769768C>G	TOPMed,gnomAD
rs1326843080	p.Arg192Lys	missense variant	-	NC_000002.12:g.42769768C>T	TOPMed,gnomAD
rs373963540	p.Glu193Lys	missense variant	-	NC_000002.12:g.42769766C>T	ESP,ExAC,gnomAD
rs373963540	p.Glu193Gln	missense variant	-	NC_000002.12:g.42769766C>G	ESP,ExAC,gnomAD
rs749735705	p.Leu194Pro	missense variant	-	NC_000002.12:g.42769762A>G	ExAC,gnomAD
rs1388861377	p.Ala196Thr	missense variant	-	NC_000002.12:g.42769757C>T	gnomAD
rs756426963	p.Pro199Arg	missense variant	-	NC_000002.12:g.42769747G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu200His	missense variant	-	NC_000002.12:g.42769744A>T	NCI-TCGA
rs201598914	p.Ser201Thr	missense variant	-	NC_000002.12:g.42769741C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs767863226	p.Leu202Gln	missense variant	-	NC_000002.12:g.42769738A>T	ExAC,TOPMed,gnomAD
rs767863226	p.Leu202Pro	missense variant	-	NC_000002.12:g.42769738A>G	ExAC,TOPMed,gnomAD
rs1388318199	p.Leu202Met	missense variant	-	NC_000002.12:g.42769739G>T	gnomAD
rs1362424756	p.Phe203Leu	missense variant	-	NC_000002.12:g.42769734A>T	gnomAD
rs1376442674	p.Phe203Ser	missense variant	-	NC_000002.12:g.42769735A>G	TOPMed,gnomAD
rs1376442674	p.Phe203Cys	missense variant	-	NC_000002.12:g.42769735A>C	TOPMed,gnomAD
rs757516697	p.Thr206Ser	missense variant	-	NC_000002.12:g.42769726G>C	ExAC,gnomAD
rs1380896269	p.Glu208Lys	missense variant	-	NC_000002.12:g.42769721C>T	TOPMed
rs140165694	p.Thr209Ser	missense variant	-	NC_000002.12:g.42769718T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759427449	p.Ile212Thr	missense variant	-	NC_000002.12:g.42767924A>G	ExAC,TOPMed,gnomAD
rs952504991	p.Ala213Thr	missense variant	-	NC_000002.12:g.42767922C>T	TOPMed,gnomAD
rs113019865	p.Tyr214Cys	missense variant	-	NC_000002.12:g.42767918T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly215Glu	missense variant	-	NC_000002.12:g.42767915C>T	NCI-TCGA
rs1239972712	p.Gly217Arg	missense variant	-	NC_000002.12:g.42767910C>G	TOPMed
rs772732181	p.Ser219Gly	missense variant	-	NC_000002.12:g.42767904T>C	ExAC,gnomAD
rs773842529	p.Glu220Asp	missense variant	-	NC_000002.12:g.42767899T>G	ExAC,gnomAD
rs372852437	p.Glu220Lys	missense variant	-	NC_000002.12:g.42767901C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly221Asp	missense variant	-	NC_000002.12:g.42767897C>T	NCI-TCGA
rs1443330447	p.Gly221Ser	missense variant	-	NC_000002.12:g.42767898C>T	TOPMed
rs200932461	p.Leu222Met	missense variant	-	NC_000002.12:g.42767895G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200932461	p.Leu222Val	missense variant	-	NC_000002.12:g.42767895G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs547765342	p.Gln224His	missense variant	-	NC_000002.12:g.42767887C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs747294440	p.Asn225His	missense variant	-	NC_000002.12:g.42767886T>G	ExAC,gnomAD
COSM419167	p.Val226Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42767882A>T	NCI-TCGA Cosmic
rs752749154	p.Val228Met	missense variant	-	NC_000002.12:g.42767877C>T	ExAC,TOPMed,gnomAD
rs1431696583	p.Val228Ala	missense variant	-	NC_000002.12:g.42767876A>G	TOPMed
rs1290031051	p.Trp229Leu	missense variant	-	NC_000002.12:g.42767873C>A	gnomAD
rs1353902871	p.Trp231Cys	missense variant	-	NC_000002.12:g.42767866C>A	gnomAD
rs1229645746	p.Trp231Gly	missense variant	-	NC_000002.12:g.42767868A>C	gnomAD
rs1293051118	p.Gln232Ter	stop gained	-	NC_000002.12:g.42767865G>A	TOPMed,gnomAD
rs1430279444	p.Glu234Asp	missense variant	-	NC_000002.12:g.42767675C>A	TOPMed
rs1266608424	p.Gly235Asp	missense variant	-	NC_000002.12:g.42767673C>T	gnomAD
rs34053133	p.Gly235Ser	missense variant	-	NC_000002.12:g.42767674C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34053133	p.Gly235Arg	missense variant	-	NC_000002.12:g.42767674C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs893022311	p.Ser236Phe	missense variant	-	NC_000002.12:g.42767670G>A	TOPMed
rs866479379	p.Ser237Leu	missense variant	-	NC_000002.12:g.42767667G>A	gnomAD
rs1370308433	p.Thr240Lys	missense variant	-	NC_000002.12:g.42767658G>T	TOPMed,gnomAD
rs1370308433	p.Thr240Ile	missense variant	-	NC_000002.12:g.42767658G>A	TOPMed,gnomAD
rs763755055	p.Met241Ile	missense variant	-	NC_000002.12:g.42767654C>T	ExAC,gnomAD
rs1437543237	p.Met241Thr	missense variant	-	NC_000002.12:g.42767655A>G	gnomAD
rs1298474441	p.Met241Val	missense variant	-	NC_000002.12:g.42767656T>C	gnomAD
rs763755055	p.Met241Ile	missense variant	-	NC_000002.12:g.42767654C>G	ExAC,gnomAD
rs570913602	p.Gly242Trp	missense variant	-	NC_000002.12:g.42767653C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs570913602	p.Gly242Arg	missense variant	-	NC_000002.12:g.42767653C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly243AspPheSerTerUnk	frameshift	-	NC_000002.12:g.42767649C>-	NCI-TCGA
rs528800387	p.Gly243Arg	missense variant	-	NC_000002.12:g.42767650C>T	gnomAD
rs1359634735	p.Gly243Glu	missense variant	-	NC_000002.12:g.42767649C>T	gnomAD
rs553933735	p.Arg244Gln	missense variant	-	NC_000002.12:g.42767646C>T	1000Genomes,ExAC,gnomAD
rs200847909	p.Arg244Trp	missense variant	-	NC_000002.12:g.42767647G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202048095	p.Arg245Cys	missense variant	-	NC_000002.12:g.42767644G>A	ESP,ExAC,TOPMed,gnomAD
rs1045453685	p.Arg245His	missense variant	-	NC_000002.12:g.42767643C>T	TOPMed,gnomAD
rs774539107	p.Leu246Val	missense variant	-	NC_000002.12:g.42767641G>C	ExAC
rs1483796382	p.Ser247Gly	missense variant	-	NC_000002.12:g.42767638T>C	TOPMed,gnomAD
rs768805615	p.Ser247Thr	missense variant	-	NC_000002.12:g.42767637C>G	ExAC,TOPMed,gnomAD
rs1208602506	p.Ser247Arg	missense variant	-	NC_000002.12:g.42767636G>C	gnomAD
rs749371053	p.Ala249Ser	missense variant	-	NC_000002.12:g.42767632C>A	ExAC,TOPMed,gnomAD
rs1041004137	p.Asp251Glu	missense variant	-	NC_000002.12:g.42767624A>T	TOPMed,gnomAD
COSM3839549	p.Asp251Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42767624A>C	NCI-TCGA Cosmic
rs747520560	p.Asp252Asn	missense variant	-	NC_000002.12:g.42767623C>T	gnomAD
rs747520560	p.Asp252Tyr	missense variant	-	NC_000002.12:g.42767623C>A	gnomAD
rs1195442031	p.Leu255Pro	missense variant	-	NC_000002.12:g.42767613A>G	TOPMed
rs1197421049	p.Val256Met	missense variant	-	NC_000002.12:g.42767611C>T	TOPMed,gnomAD
COSM295221	p.Gly259Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42767602C>A	NCI-TCGA Cosmic
rs1308039334	p.Thr260Ile	missense variant	-	NC_000002.12:g.42767598G>A	gnomAD
rs534302281	p.Ser261Trp	missense variant	-	NC_000002.12:g.42767595G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs534302281	p.Ser261Leu	missense variant	-	NC_000002.12:g.42767595G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1249889459	p.Tyr262Ter	stop gained	-	NC_000002.12:g.42767512A>T	gnomAD
rs1210520800	p.Ala263Ser	missense variant	-	NC_000002.12:g.42767511C>A	TOPMed,gnomAD
rs146242229	p.Trp264Ter	stop gained	-	NC_000002.12:g.42767507C>T	ESP,ExAC,TOPMed,gnomAD
rs146242229	p.Trp264Ser	missense variant	-	NC_000002.12:g.42767507C>G	ESP,ExAC,TOPMed,gnomAD
rs745855441	p.Trp264Gly	missense variant	-	NC_000002.12:g.42767508A>C	ExAC,TOPMed,gnomAD
rs1333851493	p.Glu265Gly	missense variant	-	NC_000002.12:g.42767504T>C	gnomAD
rs757076673	p.Arg266Ter	stop gained	-	NC_000002.12:g.42767502G>A	ExAC,TOPMed,gnomAD
rs78588034	p.Arg266Pro	missense variant	-	NC_000002.12:g.42767501C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs78588034	p.Arg266Gln	missense variant	-	NC_000002.12:g.42767501C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1333968383	p.Thr267Ile	missense variant	-	NC_000002.12:g.42767498G>A	gnomAD
rs777663987	p.Gln268Ter	stop gained	-	NC_000002.12:g.42767496G>A	ExAC,TOPMed,gnomAD
rs1388817588	p.Gly269Asp	missense variant	-	NC_000002.12:g.42767492C>T	TOPMed
rs764720518	p.Ser270Ala	missense variant	-	NC_000002.12:g.42767490A>C	ExAC,gnomAD
COSM74858	p.Ser270Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42767489G>A	NCI-TCGA Cosmic
rs1460644454	p.Ala272Thr	missense variant	-	NC_000002.12:g.42767484C>T	gnomAD
rs753225304	p.Thr276Ile	missense variant	-	NC_000002.12:g.42767471G>A	ExAC,gnomAD
rs201387643	p.Thr276Ala	missense variant	-	NC_000002.12:g.42767472T>C	ExAC,TOPMed,gnomAD
rs1199617692	p.Gln277Arg	missense variant	-	NC_000002.12:g.42767468T>C	gnomAD
rs768070145	p.Gln277His	missense variant	-	NC_000002.12:g.42767467C>G	ExAC,gnomAD
rs751940347	p.Ala280Val	missense variant	-	NC_000002.12:g.42767459G>A	ExAC,gnomAD
rs775680087	p.Cys281Gly	missense variant	-	NC_000002.12:g.42767457A>C	ExAC,TOPMed,gnomAD
rs775680087	p.Cys281Arg	missense variant	-	NC_000002.12:g.42767457A>G	ExAC,TOPMed,gnomAD
rs1210372372	p.Cys281Tyr	missense variant	-	NC_000002.12:g.42767456C>T	gnomAD
NCI-TCGA novel	p.Lys282Asn	missense variant	-	NC_000002.12:g.42767452C>A	NCI-TCGA
rs769854329	p.Lys282Arg	missense variant	-	NC_000002.12:g.42767453T>C	ExAC,gnomAD
rs1471738827	p.Pro284Leu	missense variant	-	NC_000002.12:g.42767447G>A	gnomAD
COSM3991313	p.Pro284Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42767448G>C	NCI-TCGA Cosmic
rs200552980	p.Gly286Glu	missense variant	-	NC_000002.12:g.42767441C>T	ESP,ExAC,TOPMed,gnomAD
rs1365484168	p.Gly286Arg	missense variant	-	NC_000002.12:g.42767442C>G	gnomAD
rs200552980	p.Gly286Val	missense variant	-	NC_000002.12:g.42767441C>A	ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0014544	Epilepsy	disease	BEFREE
C0028968	Olivopontocerebellar Atrophies	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0848558	Hypospadias	group	GWASCAT
C1704272	Benign Prostatic Hyperplasia	disease	BEFREE
C1883486	Uterine Corpus Cancer	disease	BEFREE
C1968949	Cakut	disease	GENOMICS_ENGLAND
C4540004	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1	disease	CLINVAR

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000334	3-hydroxyanthranilate 3,4-dioxygenase activity	IDA
GO:0000334	3-hydroxyanthranilate 3,4-dioxygenase activity	IBA
GO:0005515	protein binding	IPI
GO:0008198	ferrous iron binding	IDA
GO:0009055	electron transfer activity	NAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006569	tryptophan catabolic process	TAS
GO:0009435	NAD biosynthetic process	IMP
GO:0010043	response to zinc ion	IDA
GO:0019805	quinolinate biosynthetic process	NAS
GO:0019805	quinolinate biosynthetic process	IDA
GO:0022900	electron transport chain	IEA
GO:0034354	'de novo' NAD biosynthetic process from tryptophan	IBA
GO:0043420	anthranilate metabolic process	IEA
GO:0046686	response to cadmium ion	IDA
GO:0046874	quinolinate metabolic process	IBA
GO:0070050	neuron cellular homeostasis	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005737	cytoplasm	IBA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-71240	Tryptophan catabolism	TAS
R-HSA-71291	Metabolism of amino acids and derivatives	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C049325	1,2-dithiol-3-thione	1,2-dithiol-3-thione results in increased expression of HAAO mRNA	19162173
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of HAAO mRNA	29038090
C036423	1-aminomethylphosphonic acid	[Herbicides co-treated with 1-aminomethylphosphonic acid] results in decreased expression of HAAO mRNA	20566314
C066841	2,3,7,8-tetrabromodibenzo-4-dioxin	2,3,7,8-tetrabromodibenzo-4-dioxin results in increased expression of HAAO protein	27604104
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in increased expression of HAAO mRNA	20406850
D000082	Acetaminophen	Acetaminophen results in decreased expression of HAAO mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of HAAO mRNA	17562736
D000082	Acetaminophen	[CTH gene mutant form results in increased susceptibility to Acetaminophen] which results in decreased expression of HAAO protein	25499718
D020106	Acrylamide	Acrylamide results in increased expression of HAAO mRNA	28959563
D000212	Acyclovir	Acyclovir results in decreased activity of HAAO protein	17174341
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of HAAO protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of HAAO mRNA	19770486
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin analog results in increased expression of HAAO protein	26597043
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in increased expression of HAAO protein	26597043
C100057	ametryne	ametryne results in decreased expression of HAAO protein	29427468
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of HAAO mRNA	16483693
D001280	Atrazine	Atrazine results in increased expression of HAAO mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of HAAO mRNA	19770486
C022921	benzo(k)fluoranthene	benzo(k)fluoranthene results in increased expression of HAAO mRNA	26377693
C006780	bisphenol A	bisphenol A results in increased expression of HAAO mRNA	30248606
C006780	bisphenol A	bisphenol A affects the expression of HAAO mRNA	30903817
C006780	bisphenol A	bisphenol A affects the expression of HAAO mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of HAAO mRNA	25181051
C038091	butylparaben	butylparaben results in decreased expression of HAAO mRNA	29458080
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of HAAO mRNA	18804290
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of HAAO protein	21667247
D019256	Cadmium Chloride	Cadmium Chloride results in decreased methylation of HAAO promoter	22457795
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of HAAO mRNA	27339419
C041167	chromium nitrate	chromium nitrate results in increased expression of HAAO protein	22144121
D002945	Cisplatin	Cisplatin results in increased expression of HAAO mRNA	27594783
D003300	Copper	Copper results in decreased expression of HAAO mRNA	22465980
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of HAAO mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of HAAO mRNA	20106945
D016572	Cyclosporine	Cyclosporine results in decreased methylation of HAAO promoter	27989131
D016572	Cyclosporine	Cyclosporine results in decreased expression of HAAO mRNA	19770486
C093628	cyproconazole	cyproconazole results in decreased expression of HAAO protein	29995386
C093628	cyproconazole	cyproconazole results in decreased expression of HAAO mRNA	22334560
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of HAAO mRNA]	27941970
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of HAAO mRNA	25374375
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Phenobarbital] results in increased methylation of HAAO promoter	25374375
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of HAAO mRNA	19638242
D013759	Dronabinol	Dronabinol affects the methylation of HAAO gene	26044905
C109476	epoxiconazole	epoxiconazole results in decreased expression of HAAO mRNA	22334560
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of HAAO protein	20227414
D017313	Fenretinide	Fenretinide results in increased expression of HAAO mRNA	28973697
D005419	Flavonoids	Flavonoids results in decreased expression of HAAO mRNA	18035473
D005485	Flutamide	Flutamide results in decreased expression of HAAO mRNA	24793618
D005485	Flutamide	Flutamide results in increased expression of HAAO mRNA	24136188
D005839	Gentamicins	Gentamicins results in decreased expression of HAAO mRNA	22061828
C412815	GW 4064	GW 4064 results in decreased expression of HAAO protein	23178280
C412815	GW 4064	GW 4064 results in increased expression of HAAO mRNA	26655953
D006540	Herbicides	[Herbicides co-treated with 1-aminomethylphosphonic acid] results in decreased expression of HAAO mRNA	20566314
D006830	Hydralazine	[Hydralazine co-treated with Valproic Acid] results in increased expression of HAAO mRNA	17183730
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased expression of HAAO mRNA	26846883
C020758	indium trichloride	indium trichloride results in decreased expression of HAAO protein	19539025
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of HAAO mRNA	25613284
C002741	N-nitrosomorpholine	N-nitrosomorpholine affects the expression of HAAO protein	19716841
D019319	Okadaic Acid	Okadaic Acid results in decreased expression of HAAO mRNA	25270620
C522391	perfluorododecanoic acid	perfluorododecanoic acid results in increased expression of HAAO protein	26168851
D010634	Phenobarbital	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of HAAO mRNA	25374375
D010634	Phenobarbital	[Diethylnitrosamine co-treated with Phenobarbital] results in increased methylation of HAAO promoter	25374375
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of HAAO mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of HAAO mRNA	23811191
C006253	pirinixic acid	pirinixic acid results in decreased expression of HAAO mRNA	19162173
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of HAAO protein	22144121
C045950	propiconazole	propiconazole results in decreased expression of HAAO mRNA	21278054; 22334560;
C045950	propiconazole	propiconazole results in increased metabolism of HAAO protein	19714882
C015586	propiverine	propiverine binds to HAAO protein	29273565
D017378	Quinolinic Acid	HAAO protein results in increased chemical synthesis of Quinolinic Acid	17174341
D012834	Silver	Silver results in increased expression of HAAO mRNA	27131904
C009277	sodium arsenate	sodium arsenate results in increased expression of HAAO mRNA	23922661
C017947	sodium arsenite	sodium arsenite results in decreased expression of HAAO mRNA	29361514
C017947	sodium arsenite	sodium arsenite results in decreased expression of HAAO mRNA	29301061
C017947	sodium arsenite	sodium arsenite results in increased expression of HAAO protein	29459688
C031655	tauroursodeoxycholic acid	tauroursodeoxycholic acid results in decreased expression of HAAO mRNA	15885361
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of HAAO mRNA	21570461
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of HAAO mRNA	25613284
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of HAAO protein	27319396
D014260	Triclosan	Triclosan results in decreased expression of HAAO protein	30219713
D014580	Ursodeoxycholic Acid	Ursodeoxycholic Acid results in decreased expression of HAAO mRNA	15885361
D014635	Valproic Acid	[Hydralazine co-treated with Valproic Acid] results in increased expression of HAAO mRNA	17183730
D014635	Valproic Acid	Valproic Acid results in decreased expression of HAAO mRNA	29501571
D014635	Valproic Acid	Valproic Acid results in decreased expression of HAAO protein	29501571
D014635	Valproic Acid	Valproic Acid results in increased methylation of HAAO gene	29154799; 29501571;
D014640	Vancomycin	Vancomycin results in increased expression of HAAO mRNA	18930951
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of HAAO gene	25560391
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of HAAO mRNA	26682919

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0223	Dioxygenase
KW-0225	Disease mutation
KW-0408	Iron
KW-0479	Metal-binding
KW-0560	Oxidoreductase
KW-0621	Polymorphism
KW-0662	Pyridine nucleotide biosynthesis
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR010329	3hydroanth_dOase
IPR016700	3hydroanth_dOase_met
IPR014710	RmlC-like_jellyroll
IPR011051	RmlC_Cupin_sf

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF06052	3-HAO

Gene: HAAO

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction