Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5009
Gene name	Ornithine transcarbamylase
Gene symbol	OTC
Synonyms (NCBI Gene)	OCTDOTC1OTCDOTCase
Chromosome	X
Chromosome location	Xp11.4
Summary	This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1800324	T>C	Pathogenic	Coding sequence variant, missense variant
rs1800328	A>C,G	Pathogenic, benign, benign-likely-benign	Coding sequence variant, missense variant
rs66469337	T>C,G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs66500027	G>A,T	Pathogenic	Splice donor variant
rs66512766	G>A,T	Pathogenic	Splice donor variant
rs66521141	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs66539573	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs66550389	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs66556380	A>C,G,T	Pathogenic	Splice acceptor variant
rs66564822	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs66626662	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs66642398	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs66656800	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs66677059	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs66693137	G>A,T	Pathogenic	Splice donor variant
rs66724222	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs66737144	G>A,T	Pathogenic	Splice donor variant
rs66741318	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs66851495	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs66867430	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs67016166	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs67077695	G>A,T	Pathogenic	Splice donor variant
rs67120076	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs67156896	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs67283833	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs67284661	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs67294955	G>A	Pathogenic	Coding sequence variant, missense variant
rs67294956	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs67330615	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs67333670	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs67367843	T>A,C	Pathogenic	Splice donor variant
rs67414444	T>A,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs67418243	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs67468335	T>C,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs67486158	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs67501347	C>A,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs67651903	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs67752076	A>G,T	Pathogenic	Initiator codon variant, missense variant
rs67839036	G>A	Pathogenic	Splice acceptor variant
rs67839039	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs67870244	C>G,T	Pathogenic	Missense variant, downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs67870245	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs67890094	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs67916658	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs67939655	A>C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs67954347	T>A,C,G	Pathogenic	Coding sequence variant, missense variant
rs67960011	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs67993095	A>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs68026851	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs68031618	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs68033093	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs68058881	G>A,T	Pathogenic	Splice donor variant
rs68170503	G>A,T	Pathogenic	Splice donor variant
rs72552295	T>C	Pathogenic	Initiator codon variant, missense variant
rs72552296	G>A	Pathogenic	Initiator codon variant, missense variant
rs72552297	ACAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs72552298	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs72552299	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs72552300	C>T	Pathogenic	Coding sequence variant, stop gained
rs72552301	A>C	Pathogenic	Intron variant
rs72552302	G>A	Pathogenic	Intron variant
rs72554303	C>G,T	Pathogenic	Intron variant
rs72554304	C>T	Pathogenic	Coding sequence variant, stop gained
rs72554305	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs72554306	G>T	Pathogenic	Coding sequence variant, missense variant
rs72554307	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72554308	G>A	Pathogenic	Coding sequence variant, missense variant
rs72554309	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs72554310	C>T	Pathogenic	Coding sequence variant, missense variant
rs72554311	C>G	Pathogenic	Coding sequence variant, missense variant
rs72554312	T>C	Pathogenic	Coding sequence variant, missense variant
rs72554313	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs72554314	->G	Pathogenic	Coding sequence variant, frameshift variant
rs72554315	T>C	Pathogenic	Coding sequence variant, missense variant
rs72554316	A>C	Pathogenic	Coding sequence variant, missense variant
rs72554317	A>G	Pathogenic	Coding sequence variant, missense variant
rs72554318	A>T	Pathogenic	Coding sequence variant, missense variant
rs72554319	T>G	Pathogenic	Coding sequence variant, missense variant
rs72554320	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72554321	T>A	Pathogenic	Coding sequence variant, missense variant
rs72554322	G>A	Pathogenic	Coding sequence variant, stop gained
rs72554323	C>T	Pathogenic	Coding sequence variant, missense variant
rs72554324	T>C	Pathogenic	Coding sequence variant, missense variant
rs72554325	T>G	Pathogenic	Coding sequence variant, missense variant
rs72554326	C>T	Pathogenic	Coding sequence variant, stop gained
rs72554327	G>A	Pathogenic	Splice acceptor variant
rs72554328	T>C	Pathogenic	Coding sequence variant, missense variant
rs72554329	G>T	Pathogenic	Coding sequence variant, missense variant
rs72554330	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs72554331	G>A	Pathogenic	Coding sequence variant, missense variant
rs72554332	A>G	Pathogenic	Coding sequence variant, missense variant
rs72554333	G>T	Pathogenic	Coding sequence variant, missense variant
rs72554334	CTT>-	Pathogenic	Coding sequence variant, inframe deletion
rs72554335	T>G	Pathogenic	Coding sequence variant, stop gained
rs72554336	G>C	Pathogenic	Coding sequence variant, missense variant
rs72554337	G>A	Pathogenic	Coding sequence variant, missense variant
rs72554338	G>A	Pathogenic	Coding sequence variant, missense variant
rs72554339	A>T	Pathogenic	Coding sequence variant, missense variant
rs72554340	A>G	Pathogenic	Coding sequence variant, missense variant
rs72554341	G>A	Pathogenic	Coding sequence variant, missense variant
rs72554342	T>C,G	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs72554343	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs72554344	A>G	Pathogenic	Coding sequence variant, missense variant
rs72554345	G>C	Pathogenic	Coding sequence variant, missense variant
rs72554346	T>C	Pathogenic	Coding sequence variant, missense variant
rs72554347	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72554349	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs72554350	C>A	Pathogenic	Coding sequence variant, missense variant
rs72554351	G>T	Pathogenic	Coding sequence variant, missense variant
rs72554352	G>A	Pathogenic	Coding sequence variant, missense variant
rs72554353	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs72554354	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs72554355	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs72554357	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs72554358	A>G	Pathogenic	Coding sequence variant, missense variant
rs72554359	T>C	Pathogenic	Splice donor variant
rs72556251	->ATT	Pathogenic	Coding sequence variant, inframe insertion
rs72556252	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556253	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556254	C>T	Pathogenic	Coding sequence variant, missense variant
rs72556255	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs72556256	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs72556257	A>T	Pathogenic	Coding sequence variant, missense variant
rs72556258	G>A	Pathogenic	Coding sequence variant, missense variant
rs72556259	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556260	G>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72556261	T>A,G	Pathogenic	Coding sequence variant, missense variant
rs72556262	A>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs72556263	C>G	Pathogenic	Coding sequence variant, stop gained
rs72556264	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs72556265	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72556266	C>T	Pathogenic	Coding sequence variant, missense variant
rs72556267	G>T	Pathogenic	Coding sequence variant, stop gained
rs72556268	C>A	Pathogenic	Coding sequence variant, missense variant
rs72556269	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556270	A>G	Pathogenic	Coding sequence variant, missense variant
rs72556271	A>G	Pathogenic	Coding sequence variant, missense variant
rs72556272	G>A	Pathogenic	Coding sequence variant, missense variant
rs72556273	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556274	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs72556275	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72556276	T>A	Pathogenic	Coding sequence variant, missense variant
rs72556277	C>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72556278	C>T	Pathogenic	Coding sequence variant, missense variant
rs72556279	A>T	Pathogenic	Coding sequence variant, missense variant
rs72556280	C>G	Pathogenic	Coding sequence variant, missense variant
rs72556281	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72556282	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556283	A>G	Pathogenic	Coding sequence variant, missense variant
rs72556284	C>T	Pathogenic	Coding sequence variant, missense variant
rs72556285	ACGCTC>-	Pathogenic	Coding sequence variant, inframe deletion
rs72556286	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556287	G>C	Pathogenic	Coding sequence variant, missense variant
rs72556288	G>A,C,T	Pathogenic	Splice donor variant
rs72556289	A>G	Pathogenic	Splice acceptor variant
rs72556290	A>G	Pathogenic	Coding sequence variant, missense variant
rs72556291	A>T	Pathogenic	Coding sequence variant, missense variant
rs72556292	T>G	Pathogenic	Coding sequence variant, missense variant
rs72556293	A>G	Pathogenic	Coding sequence variant, missense variant
rs72556294	G>C	Pathogenic	Coding sequence variant, missense variant
rs72556295	G>T	Pathogenic	Coding sequence variant, missense variant
rs72556296	C>T	Pathogenic	Coding sequence variant, missense variant
rs72556298	C>G	Pathogenic	Coding sequence variant, missense variant
rs72556299	G>A	Pathogenic	Coding sequence variant, stop gained
rs72556300	A>T	Pathogenic	Coding sequence variant, missense variant
rs72556301	G>A	Pathogenic	Coding sequence variant, missense variant
rs72556302	G>A	Pathogenic	Coding sequence variant, missense variant
rs72558403	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72558404	C>A	Pathogenic	Coding sequence variant, missense variant
rs72558405	A>G	Pathogenic	Coding sequence variant, missense variant
rs72558406	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs72558407	T>C	Pathogenic	Coding sequence variant, missense variant
rs72558408	C>T	Pathogenic	Coding sequence variant, missense variant
rs72558409	A>C	Pathogenic	Coding sequence variant, missense variant
rs72558410	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72558411	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72558412	T>G	Pathogenic	Coding sequence variant, missense variant
rs72558413	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs72558414	G>A	Pathogenic	Coding sequence variant, missense variant
rs72558415	C>A,T	Likely-benign, pathogenic, benign	Coding sequence variant, synonymous variant, missense variant
rs72558416	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs72558417	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72558418	A>C	Pathogenic	Coding sequence variant, missense variant
rs72558420	C>T	Pathogenic	Coding sequence variant, missense variant
rs72558421	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs72558422	->T	Pathogenic	Coding sequence variant, frameshift variant
rs72558423	C>G	Pathogenic	Coding sequence variant, missense variant
rs72558424	C>A	Pathogenic	Coding sequence variant, missense variant
rs72558425	C>G	Pathogenic	Coding sequence variant, missense variant
rs72558426	C>T	Pathogenic	Coding sequence variant, missense variant
rs72558427	T>C	Pathogenic	Splice donor variant
rs72558428	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72558429	C>T	Pathogenic	Coding sequence variant, missense variant
rs72558430	G>T	Pathogenic	Coding sequence variant, stop gained
rs72558431	T>C	Pathogenic	Splice donor variant
rs72558432	A>G	Pathogenic	Intron variant
rs72558433	A>G	Pathogenic	Splice acceptor variant
rs72558434	AGAATGGTACCAAGCT>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs72558435	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72558436	T>A	Pathogenic	Coding sequence variant, missense variant
rs72558437	C>A	Pathogenic	Coding sequence variant, missense variant
rs72558438	TGTTGCTGA>-	Pathogenic	Coding sequence variant, inframe indel
rs72558439	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs72558440	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs72558441	T>C	Pathogenic	Coding sequence variant, missense variant
rs72558442	G>A	Pathogenic	Coding sequence variant, missense variant
rs72558443	A>G	Pathogenic	Coding sequence variant, missense variant
rs72558444	A>G	Pathogenic	Coding sequence variant, missense variant
rs72558445	T>C	Pathogenic	Coding sequence variant, missense variant
rs72558446	G>T	Pathogenic	Coding sequence variant, missense variant
rs72558447	G>A	Pathogenic	Coding sequence variant, stop gained
rs72558448	A>C	Pathogenic	Coding sequence variant, missense variant
rs72558449	T>C	Pathogenic	Coding sequence variant, missense variant
rs72558450	G>A	Pathogenic	Coding sequence variant, missense variant
rs72558451	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs72558452	GAG>-	Pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs72558453	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs72558454	C>T	Pathogenic	Coding sequence variant, missense variant
rs72558455	C>T	Pathogenic	Coding sequence variant, stop gained
rs72558456	G>T	Pathogenic	Coding sequence variant, missense variant
rs72558457	A>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs72558458	T>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs72558459	ACTG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs72558460	TG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs72558461	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558462	A>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558463	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558464	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558465	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558466	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs72558467	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558468	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558469	AAG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion, downstream transcript variant
rs72558470	G>T	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558471	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558472	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558473	C>A,T	Pathogenic	Stop gained, downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs72558474	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558475	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs72558476	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558477	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs72558478	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558479	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs72558480	T>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558481	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs72558482	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs72558483	G>T	Pathogenic	Genic downstream transcript variant, splice donor variant, downstream transcript variant
rs72558484	T>C	Pathogenic	Genic downstream transcript variant, splice donor variant, downstream transcript variant
rs72558485	C>G	Pathogenic	Intron variant, genic downstream transcript variant
rs72558486	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558487	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558488	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558489	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558490	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558491	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558492	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558493	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558494	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs72558495	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558496	AAGT>-	Pathogenic	Intron variant, splice donor variant
rs74518351	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111060773	GTAAG>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs111060774	CTTTACATGTAAAGCT>-	Pathogenic	Intron variant
rs281865552	G>A,C	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs281865553	G>A	Pathogenic	Downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs281865554	G>C	Pathogenic	Splice acceptor variant
rs749748052	C>A	Likely-pathogenic, uncertain-significance	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs772049322	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs796052012	G>C	Pathogenic	Missense variant, coding sequence variant
rs796052013	A>G	Pathogenic	Missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs796052015	->A	Pathogenic	Splice acceptor variant
rs796052016	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225061	TTTTCGGTAAGTGATGGTCAGAGA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs878853245	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs886041526	G>-	Pathogenic	Splice donor variant, coding sequence variant
rs1064796335	A>T	Likely-pathogenic	Stop lost, splice acceptor variant, terminator codon variant
rs1131691517	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692152	C>G	Pathogenic	Missense variant, coding sequence variant
rs1555970997	T>G	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs1555971000	G>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs1555971001	A>G	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs1555971006	C>T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs1555971008	C>T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs1555972495	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555972538	T>G	Pathogenic	Splice donor variant
rs1555975685	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555975756	G>A	Pathogenic	Intron variant
rs1569270890	->T	Likely-pathogenic	Splice donor variant
rs1569281032	A>G	Likely-pathogenic	Intron variant
rs1569281354	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs1602029522	G>A	Pathogenic	Splice acceptor variant
rs1602029533	->TTGTCTA	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1602033095	GCCA>CCT	Likely-pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT028822	hsa-miR-26b-5p	Microarray	19088304
MIRT1207199	hsa-miR-144	CLIP-seq
MIRT1207200	hsa-miR-323-3p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
PPARGC1A	Activation	16891307

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	IDA	2556444
GO:0000050	Process	Urea cycle	IEA
GO:0001889	Process	Liver development	IEA
GO:0004585	Function	Ornithine carbamoyltransferase activity	IBA
GO:0004585	Function	Ornithine carbamoyltransferase activity	IDA	2556444, 8112735
GO:0004585	Function	Ornithine carbamoyltransferase activity	IEA
GO:0005543	Function	Phospholipid binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	3472484, 6372096
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	NAS	6372096
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006520	Process	Amino acid metabolic process	IEA
GO:0006526	Process	L-arginine biosynthetic process	IEA
GO:0006591	Process	Ornithine metabolic process	IEA
GO:0006593	Process	L-ornithine catabolic process	IDA	2556444, 8112735
GO:0007494	Process	Midgut development	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010043	Process	Response to zinc ion	IEA
GO:0016597	Function	Amino acid binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016743	Function	Carboxyl- or carbamoyltransferase activity	IEA
GO:0019240	Process	Citrulline biosynthetic process	IBA
GO:0019240	Process	Citrulline biosynthetic process	IDA	2556444, 8112735
GO:0019240	Process	Citrulline biosynthetic process	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0042301	Function	Phosphate ion binding	IEA
GO:0042450	Process	L-arginine biosynthetic process via ornithine	IBA
GO:0042802	Function	Identical protein binding	IEA
GO:0055081	Process	Monoatomic anion homeostasis	IEA
GO:0070781	Process	Response to biotin	IEA
GO:0097272	Process	Ammonium homeostasis	IMP	2556444, 2575934

MIM	HGNC	e!Ensembl
300461	8512	ENSG00000036473

P00480

Protein name

Ornithine transcarbamylase, mitochondrial (OTCase) (EC 2.1.3.3) (Ornithine carbamoyltransferase, mitochondrial)

Protein function

Catalyzes the second step of the urea cycle, the condensation of carbamoyl phosphate with L-ornithine to form L-citrulline (PubMed:2556444, PubMed:6372096, PubMed:8112735). The urea cycle ensures the detoxification of ammonia by converting it to

PDB

1C9Y , 1EP9 , 1FVO , 1OTH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02729	OTCace_N	40 → 181	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain	Domain
PF00185	OTCace	187 → 341	Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Mainly expressed in liver and intestinal mucosa.

Sequence

MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLS
ADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGV
NESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPIINGLSDLYHPIQILADYLTLQ
EHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTF
LHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF

Sequence length

354

Interactions

View interactions

	KEGG		Reactome
	Arginine biosynthesis Metabolic pathways Biosynthesis of amino acids		Mitochondrial protein import Urea cycle

692

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal circulating ornithine concentration	Pathogenic	rs1555975756	RCV000626698
Hyperammonemia	Pathogenic	rs1555975756	RCV000626698
Likely inborn error of metabolism	Pathogenic	rs72558416	RCV005865235
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs72554330, rs66737144, rs72554359, rs66656800, rs281865554	RCV005887682 RCV005887683 RCV005887684 RCV005887685 RCV005887686 RCV005925399
Ornithine carbamoyltransferase deficiency	Likely pathogenic; Pathogenic	rs72558436, rs72558484, rs72558493, rs74518351, rs72554310, rs72554313, rs67939655, rs72554314, rs66521141, rs66677059, rs72554322, rs72554326, rs66693137, rs72554327, rs72554329 View all (174 more)	RCV001329969 RCV004595917 RCV005632228 RCV001064676 RCV001813756 RCV002283454 RCV002513861 RCV001260429 RCV000807816 RCV002514458 RCV000792966 RCV003453009 RCV001385349 RCV002513862 RCV000011752 RCV002514459 RCV001854456 RCV000990783 RCV002490733 RCV000560147 RCV001854457 RCV001251324 RCV005632229 RCV002513863 RCV000011751 RCV000990785 RCV003509490 RCV000587672 RCV000990786 RCV003323393 RCV002514460 RCV000793302 RCV001854458 RCV005632231 RCV001854459 RCV000813314 RCV000990789 RCV001262181 RCV003509491 RCV001385352 RCV001854460 RCV005887687 RCV001204241 RCV001232865 RCV004558299 RCV004783740 RCV001857404 RCV001795155 RCV003509492 RCV001265563 RCV000634843 RCV003225028 RCV001218092 RCV000634844 RCV000634848 RCV002513864 RCV001802797 RCV004558300 RCV001854461 RCV000011744 RCV001307378 RCV000990790 RCV005632232 RCV001206949 RCV002514461 RCV000702113 RCV001378078 RCV000692945 RCV001390293 RCV005632233 RCV001228473 RCV001854462 RCV003509493 RCV000590461 RCV000690668 RCV001854463 RCV000547443 RCV001039339 RCV001857406 RCV001337278 RCV001341663 RCV001375871 RCV001378099 RCV001379672 RCV001378599 RCV001385350 RCV001663393 RCV001948231 RCV002008441 RCV002045039 RCV001927563 RCV001866601 RCV001942062 RCV001951259 RCV002003082 RCV002030590 RCV001994992 RCV001916012 RCV001956543 RCV001986043 RCV002045240 RCV002038550 RCV002249117 RCV002309665 RCV002309708 RCV002308220 RCV002307193 RCV002307237 RCV002310253 RCV002308458 RCV002469986 RCV003041439 RCV002510348 RCV002736053 RCV002843494 RCV002861846 RCV002894285 RCV002881931 RCV000201257 RCV003021155 RCV003022883 RCV003014684 RCV003020379 RCV003040285 RCV000225005 RCV003228176 RCV000011734 RCV000011735 RCV000011736 RCV000011737 RCV000011738 RCV000011739 RCV000011740 RCV000011743 RCV000011745 RCV000011746 RCV000011747 RCV000011748 RCV000011749 RCV000011750 RCV000011753 RCV000011754 RCV000011755 RCV000011756 RCV000011757 RCV000011758 RCV000011759 RCV000011760 RCV000011761 RCV003317773 RCV003333373 RCV003333624 RCV003335858 RCV003335973 RCV003447661 RCV003471646 RCV003476582 RCV003455845 RCV003509053 RCV003621784 RCV003622969 RCV003831035 RCV003985958 RCV004018375 RCV004566520 RCV002527083 RCV003621541 RCV000495847 RCV001049435 RCV001857958 RCV000548908 RCV000627032 RCV000627033 RCV000627034 RCV000627037 RCV000634847 RCV000687328 RCV000692422 RCV001376924 RCV000761321 RCV000990784 RCV000990787 RCV001069139 RCV001042147 RCV001070203 RCV001063805 RCV001066217 RCV001089859 RCV001089860 RCV001089861 RCV001089862 RCV001089866 RCV001089867 RCV001089868 RCV001089869 RCV001089870 RCV001089871 RCV001089872 RCV001089873 RCV001089874 RCV001089875 RCV001089877 RCV001090186 RCV001170077 RCV001170078 RCV001170079 RCV001192544 RCV001201344 RCV001221148 RCV001203914 RCV001238450 RCV001227742 RCV001240472 RCV001244170 RCV001240580 RCV001240275 RCV001293623 RCV003333024 RCV001295432
OTC-related disorder	Likely pathogenic; Pathogenic	rs72558443, rs72558406, rs72556295	RCV003398689 RCV003414315 RCV004731536
Protein avoidance	Pathogenic	rs1555975756	RCV000626698
See cases	Likely pathogenic	rs72558475	RCV004584561
Squamous cell carcinoma of the head and neck	Pathogenic	rs66656800	RCV005887431
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2147330536, rs281865552	RCV005925678 RCV005931968

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs148036282	RCV005905682
Cholangiocarcinoma	Benign	rs73196229	RCV005886249
Familial pancreatic carcinoma	Benign	rs73196229	RCV005886247
Gastric cancer	Benign	rs764551624	RCV005868033
Global developmental delay	Conflicting classifications of pathogenicity	rs375524303	RCV000626697
Malignant tumor of esophagus	Benign	rs764551624	RCV005868032
ORNITHINE TRANSCARBAMYLASE POLYMORPHISM	Benign	rs1800321	RCV000011741
Sarcoma	Benign	rs148036282	RCV005905683
Uterine carcinosarcoma	Benign	rs73196229	RCV005886248

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arginine Glycine Amidinotransferase Deficiency	Associate	29776373
Argininosuccinic Aciduria	Associate	32410394
Brain Diseases	Associate	25026867
Carcinoma Hepatocellular	Associate	18715028, 24010702, 33856599
Central Nervous System Diseases	Associate	2342523
Citrullinemia	Associate	36361642
Colorectal Neoplasms	Associate	24010702
Death	Associate	3004207, 39256843
Dyspnea	Associate	29581464
Edema	Associate	18524659
Ependymoma	Associate	35782058
Granulomatous Disease Chronic	Associate	18524659, 1895315
Hyperammonemia	Associate	23551631, 26446336, 37593415
Hypersensitivity Delayed	Associate	29581464
Liver Diseases	Associate	34786702
Lymphoma Non Hodgkin	Associate	35782058
Maple Syrup Urine Disease	Associate	36361642
Metabolic Diseases	Associate	27997078, 35087131
Metabolism Inborn Errors	Associate	2556444, 2564432, 29282796
Migraine Disorders	Associate	37593415
Mood Disorders	Associate	37593415
Muscular Dystrophy Duchenne	Associate	3859837
Neoplasms	Associate	29776373, 35782058
Neuroacanthocytosis Mcleod Type	Associate	18524659
Neurologic Manifestations	Associate	18524659
Night Blindness	Associate	1357178
Ornithine Carbamoyltransferase Deficiency Disease	Associate	11080238, 1671317, 18204299, 19318352, 24010702, 25026867, 2556444, 26446336, 2741942, 3004207, 3014867, 30175132, 30333473, 30449781, 30541480 View all (13 more)
Ornithine Carbamoyltransferase Deficiency Disease	Inhibit	18204299, 18524659, 2556444, 29282796, 37146589, 9065786
Prostatic Neoplasms	Associate	22546217
Retinitis Pigmentosa	Associate	18524659, 2300556, 2902787
Retinitis Pigmentosa 2	Associate	1357178, 1895315, 8776599
Urea Cycle Disorders Inborn	Associate	21068339, 29282796, 32410394, 36361642, 37146589
Vitamin D Deficiency	Associate	36217298

OTC (ornithine transcarbamylase)