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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	445
Gene name	Argininosuccinate synthase 1
Gene symbol	ASS1
Synonyms (NCBI Gene)	ASSCTLN1
Chromosome	9
Chromosome location	9q34.11
Summary	The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromoso

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35269064	G>A,T	Pathogenic, likely-benign, benign	Missense variant, coding sequence variant
rs121908636	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908637	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121908638	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908639	G>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908642	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908643	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121908644	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908645	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs121908646	T>C	Pathogenic	Coding sequence variant, missense variant
rs138350285	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, 5 prime UTR variant, missense variant
rs148918985	C>T	Pathogenic	Missense variant, coding sequence variant
rs183276875	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs192838388	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs199751308	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs200527708	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs370595480	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs371265106	G>A	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs372128852	G>A	Pathogenic-likely-pathogenic, pathogenic	Intron variant
rs374586230	A>C,T	Pathogenic	Splice acceptor variant
rs375579096	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376371866	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123130	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs398123131	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs575001023	G>A	Pathogenic	Missense variant, coding sequence variant
rs745404241	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs748264993	G>A,T	Pathogenic-likely-pathogenic	Splice donor variant
rs750214431	G>T	Pathogenic-likely-pathogenic	Splice donor variant
rs750780742	A>G	Likely-pathogenic	Initiator codon variant, missense variant, coding sequence variant
rs751930594	A>C,G,T	Pathogenic	Splice acceptor variant
rs762387914	C>T	Pathogenic	Coding sequence variant, missense variant
rs763389916	C>T	Likely-pathogenic	Intron variant
rs765338121	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs770362721	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs770585183	C>T	Pathogenic	Coding sequence variant, missense variant
rs770944877	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs771794639	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs775305020	G>A	Pathogenic	Coding sequence variant, missense variant
rs775791516	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs777828000	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs786204648	CT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs796051936	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs886039853	C>T	Pathogenic	Coding sequence variant, missense variant
rs895822620	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs936192871	G>A	Pathogenic	Missense variant, coding sequence variant
rs982830431	G>A	Pathogenic-likely-pathogenic	Splice donor variant
rs1004492719	TTCAAGGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1043964127	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057516339	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516544	G>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1057516648	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516960	G>A	Likely-pathogenic	Initiator codon variant, coding sequence variant, missense variant
rs1057517259	G>T	Likely-pathogenic	Splice acceptor variant
rs1057520659	G>T	Pathogenic	Splice donor variant
rs1085307056	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1301613270	C>G,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1313340299	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1396766124	G>A	Likely-pathogenic	Splice donor variant
rs1554722453	CACATCAGGTAAATCCCACCC>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554723160	GTATG>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554723625	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554982237	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554982243	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554982809	G>A	Likely-pathogenic	Splice acceptor variant
rs1554982847	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554983717	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554983719	G>A	Likely-pathogenic	Splice donor variant
rs1564903969	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588475891	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1588495489	C>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs1588496214	A>G	Pathogenic	Splice acceptor variant

498

Show/Hide all (498)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050346	hsa-miR-25-3p	CLASH	23622248
MIRT049535	hsa-miR-92a-3p	CLASH	23622248
MIRT043101	hsa-miR-324-5p	CLASH	23622248
MIRT542076	hsa-miR-8485	HITS-CLIP	21572407
MIRT542075	hsa-miR-603	HITS-CLIP	21572407
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	21572407
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	21572407
MIRT542072	hsa-miR-8067	HITS-CLIP	21572407
MIRT542076	hsa-miR-8485	HITS-CLIP	23313552
MIRT542075	hsa-miR-603	HITS-CLIP	23313552
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23313552
MIRT610890	hsa-miR-5680	HITS-CLIP	23313552
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23313552
MIRT542072	hsa-miR-8067	HITS-CLIP	23313552
MIRT677847	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT677846	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT677845	hsa-miR-606	HITS-CLIP	23313552
MIRT542076	hsa-miR-8485	HITS-CLIP	23313552
MIRT542075	hsa-miR-603	HITS-CLIP	23313552
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23313552
MIRT677844	hsa-miR-3941	HITS-CLIP	23313552
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT677847	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT677846	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT677845	hsa-miR-606	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT677844	hsa-miR-3941	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	24906430
MIRT542075	hsa-miR-603	HITS-CLIP	24906430
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	24906430
MIRT542076	hsa-miR-8485	HITS-CLIP	24906430
MIRT542075	hsa-miR-603	HITS-CLIP	24906430
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	24906430
MIRT542076	hsa-miR-8485	PAR-CLIP	21572407
MIRT542075	hsa-miR-603	PAR-CLIP	21572407
MIRT542074	hsa-miR-3680-5p	PAR-CLIP	21572407
MIRT542073	hsa-miR-6508-5p	PAR-CLIP	21572407
MIRT542072	hsa-miR-8067	PAR-CLIP	21572407
MIRT677847	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT677846	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	27418678
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	27418678
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	27418678
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	27418678
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	27418678
MIRT677844	hsa-miR-3941	HITS-CLIP	27418678
MIRT610890	hsa-miR-5680	HITS-CLIP	27418678
MIRT610890	hsa-miR-5680	HITS-CLIP	27418678
MIRT610890	hsa-miR-5680	HITS-CLIP	27418678
MIRT542075	hsa-miR-603	HITS-CLIP	27418678
MIRT542075	hsa-miR-603	HITS-CLIP	27418678
MIRT542075	hsa-miR-603	HITS-CLIP	27418678
MIRT542075	hsa-miR-603	HITS-CLIP	27418678
MIRT542075	hsa-miR-603	HITS-CLIP	27418678
MIRT677845	hsa-miR-606	HITS-CLIP	27418678
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	27418678
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	27418678
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	27418678
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	27418678
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	27418678
MIRT542072	hsa-miR-8067	HITS-CLIP	27418678
MIRT542072	hsa-miR-8067	HITS-CLIP	27418678
MIRT542072	hsa-miR-8067	HITS-CLIP	27418678
MIRT542072	hsa-miR-8067	HITS-CLIP	27418678
MIRT542072	hsa-miR-8067	HITS-CLIP	27418678
MIRT542076	hsa-miR-8485	HITS-CLIP	27418678
MIRT542076	hsa-miR-8485	HITS-CLIP	27418678
MIRT542076	hsa-miR-8485	HITS-CLIP	27418678
MIRT542076	hsa-miR-8485	HITS-CLIP	27418678
MIRT542076	hsa-miR-8485	HITS-CLIP	27418678
MIRT737278	hsa-miR-1291	Western blottingqRT-PCR	33051382
MIRT542076	hsa-miR-8485	HITS-CLIP	21572407
MIRT542075	hsa-miR-603	HITS-CLIP	21572407
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	21572407
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	21572407
MIRT542072	hsa-miR-8067	HITS-CLIP	21572407
MIRT542076	hsa-miR-8485	HITS-CLIP	23313552
MIRT542075	hsa-miR-603	HITS-CLIP	23313552
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23313552
MIRT610890	hsa-miR-5680	HITS-CLIP	23313552
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23313552
MIRT542072	hsa-miR-8067	HITS-CLIP	23313552
MIRT677847	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT677846	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT677845	hsa-miR-606	HITS-CLIP	23313552
MIRT542076	hsa-miR-8485	HITS-CLIP	23313552
MIRT542075	hsa-miR-603	HITS-CLIP	23313552
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23313552
MIRT677844	hsa-miR-3941	HITS-CLIP	23313552
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT677847	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT677846	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT677845	hsa-miR-606	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT677844	hsa-miR-3941	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	HITS-CLIP	23824327
MIRT542075	hsa-miR-603	HITS-CLIP	23824327
MIRT542074	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT610890	hsa-miR-5680	HITS-CLIP	23824327
MIRT542073	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT542072	hsa-miR-8067	HITS-CLIP	23824327
MIRT542076	hsa-miR-8485	PAR-CLIP	21572407
MIRT542075	hsa-miR-603	PAR-CLIP	21572407
MIRT542074	hsa-miR-3680-5p	PAR-CLIP	21572407
MIRT542073	hsa-miR-6508-5p	PAR-CLIP	21572407
MIRT542072	hsa-miR-8067	PAR-CLIP	21572407
MIRT803217	hsa-miR-1202	CLIP-seq
MIRT803218	hsa-miR-1280	CLIP-seq
MIRT803219	hsa-miR-1282	CLIP-seq
MIRT803220	hsa-miR-1913	CLIP-seq
MIRT803221	hsa-miR-204	CLIP-seq
MIRT803222	hsa-miR-211	CLIP-seq
MIRT803223	hsa-miR-22	CLIP-seq
MIRT803224	hsa-miR-224	CLIP-seq
MIRT803225	hsa-miR-3175	CLIP-seq
MIRT803226	hsa-miR-3194-5p	CLIP-seq
MIRT803227	hsa-miR-324-3p	CLIP-seq
MIRT803228	hsa-miR-3972	CLIP-seq
MIRT803229	hsa-miR-4275	CLIP-seq
MIRT803230	hsa-miR-4286	CLIP-seq
MIRT803231	hsa-miR-4301	CLIP-seq
MIRT803232	hsa-miR-4313	CLIP-seq
MIRT803233	hsa-miR-4323	CLIP-seq
MIRT803234	hsa-miR-4755-5p	CLIP-seq
MIRT803235	hsa-miR-4758-3p	CLIP-seq
MIRT803236	hsa-miR-486-5p	CLIP-seq
MIRT803237	hsa-miR-520d-5p	CLIP-seq
MIRT803238	hsa-miR-524-5p	CLIP-seq
MIRT803239	hsa-miR-549	CLIP-seq
MIRT803240	hsa-miR-623	CLIP-seq
MIRT803241	hsa-miR-885-3p	CLIP-seq
MIRT803242	hsa-miR-890	CLIP-seq
MIRT1937210	hsa-miR-1275	CLIP-seq
MIRT803218	hsa-miR-1280	CLIP-seq
MIRT803219	hsa-miR-1282	CLIP-seq
MIRT803220	hsa-miR-1913	CLIP-seq
MIRT803221	hsa-miR-204	CLIP-seq
MIRT803222	hsa-miR-211	CLIP-seq
MIRT803223	hsa-miR-22	CLIP-seq
MIRT803224	hsa-miR-224	CLIP-seq
MIRT1937211	hsa-miR-2276	CLIP-seq
MIRT1937212	hsa-miR-3127-5p	CLIP-seq
MIRT1937213	hsa-miR-3144-5p	CLIP-seq
MIRT1937214	hsa-miR-320a	CLIP-seq
MIRT1937215	hsa-miR-320b	CLIP-seq
MIRT1937216	hsa-miR-320c	CLIP-seq
MIRT1937217	hsa-miR-320d	CLIP-seq
MIRT1937218	hsa-miR-320e	CLIP-seq
MIRT803227	hsa-miR-324-3p	CLIP-seq
MIRT803229	hsa-miR-4275	CLIP-seq
MIRT803230	hsa-miR-4286	CLIP-seq
MIRT803232	hsa-miR-4313	CLIP-seq
MIRT1937219	hsa-miR-4429	CLIP-seq
MIRT1937220	hsa-miR-4525	CLIP-seq
MIRT1937221	hsa-miR-4665-5p	CLIP-seq
MIRT1937222	hsa-miR-4716-3p	CLIP-seq
MIRT1937223	hsa-miR-4723-5p	CLIP-seq
MIRT803234	hsa-miR-4755-5p	CLIP-seq
MIRT1937224	hsa-miR-4772-3p	CLIP-seq
MIRT803236	hsa-miR-486-5p	CLIP-seq
MIRT803237	hsa-miR-520d-5p	CLIP-seq
MIRT803238	hsa-miR-524-5p	CLIP-seq
MIRT803239	hsa-miR-549	CLIP-seq
MIRT803240	hsa-miR-623	CLIP-seq
MIRT1937225	hsa-miR-625	CLIP-seq
MIRT803242	hsa-miR-890	CLIP-seq
MIRT803224	hsa-miR-224	CLIP-seq
MIRT803225	hsa-miR-3175	CLIP-seq
MIRT803229	hsa-miR-4275	CLIP-seq
MIRT803237	hsa-miR-520d-5p	CLIP-seq
MIRT803238	hsa-miR-524-5p	CLIP-seq
MIRT803217	hsa-miR-1202	CLIP-seq
MIRT1937210	hsa-miR-1275	CLIP-seq
MIRT803219	hsa-miR-1282	CLIP-seq
MIRT803224	hsa-miR-224	CLIP-seq
MIRT2480290	hsa-miR-2861	CLIP-seq
MIRT1937212	hsa-miR-3127-5p	CLIP-seq
MIRT1937213	hsa-miR-3144-5p	CLIP-seq
MIRT803225	hsa-miR-3175	CLIP-seq
MIRT803226	hsa-miR-3194-5p	CLIP-seq
MIRT1937214	hsa-miR-320a	CLIP-seq
MIRT1937215	hsa-miR-320b	CLIP-seq
MIRT1937216	hsa-miR-320c	CLIP-seq
MIRT1937217	hsa-miR-320d	CLIP-seq
MIRT1937218	hsa-miR-320e	CLIP-seq
MIRT803228	hsa-miR-3972	CLIP-seq
MIRT803229	hsa-miR-4275	CLIP-seq
MIRT803230	hsa-miR-4286	CLIP-seq
MIRT803231	hsa-miR-4301	CLIP-seq
MIRT803233	hsa-miR-4323	CLIP-seq
MIRT1937219	hsa-miR-4429	CLIP-seq
MIRT1937221	hsa-miR-4665-5p	CLIP-seq
MIRT1937222	hsa-miR-4716-3p	CLIP-seq
MIRT2480291	hsa-miR-4731-5p	CLIP-seq
MIRT803235	hsa-miR-4758-3p	CLIP-seq
MIRT803236	hsa-miR-486-5p	CLIP-seq
MIRT803237	hsa-miR-520d-5p	CLIP-seq
MIRT803238	hsa-miR-524-5p	CLIP-seq
MIRT803239	hsa-miR-549	CLIP-seq
MIRT803241	hsa-miR-885-3p	CLIP-seq
MIRT803242	hsa-miR-890	CLIP-seq
MIRT803217	hsa-miR-1202	CLIP-seq
MIRT803219	hsa-miR-1282	CLIP-seq
MIRT803224	hsa-miR-224	CLIP-seq
MIRT2480290	hsa-miR-2861	CLIP-seq
MIRT1937212	hsa-miR-3127-5p	CLIP-seq
MIRT1937213	hsa-miR-3144-5p	CLIP-seq
MIRT803225	hsa-miR-3175	CLIP-seq
MIRT803226	hsa-miR-3194-5p	CLIP-seq
MIRT1937214	hsa-miR-320a	CLIP-seq
MIRT1937215	hsa-miR-320b	CLIP-seq
MIRT1937216	hsa-miR-320c	CLIP-seq
MIRT1937217	hsa-miR-320d	CLIP-seq
MIRT1937218	hsa-miR-320e	CLIP-seq
MIRT803228	hsa-miR-3972	CLIP-seq
MIRT803229	hsa-miR-4275	CLIP-seq
MIRT803230	hsa-miR-4286	CLIP-seq
MIRT803231	hsa-miR-4301	CLIP-seq
MIRT803233	hsa-miR-4323	CLIP-seq
MIRT1937219	hsa-miR-4429	CLIP-seq
MIRT1937222	hsa-miR-4716-3p	CLIP-seq
MIRT2480291	hsa-miR-4731-5p	CLIP-seq
MIRT803235	hsa-miR-4758-3p	CLIP-seq
MIRT803236	hsa-miR-486-5p	CLIP-seq
MIRT803237	hsa-miR-520d-5p	CLIP-seq
MIRT803238	hsa-miR-524-5p	CLIP-seq
MIRT803239	hsa-miR-549	CLIP-seq
MIRT803241	hsa-miR-885-3p	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
HIF1A	Activation	19934275
MYC	Activation	19934275
SP4	Activation	19934275

Show/Hide all (70)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	IBA
GO:0000050	Process	Urea cycle	IEA
GO:0000050	Process	Urea cycle	IMP	7977368, 8792870, 18473344, 27287393
GO:0000052	Process	Citrulline metabolic process	IMP	7977368
GO:0000053	Process	Argininosuccinate metabolic process	IBA
GO:0000053	Process	Argininosuccinate metabolic process	IEA
GO:0000053	Process	Argininosuccinate metabolic process	IMP	7977368
GO:0000166	Function	Nucleotide binding	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001889	Process	Liver development	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004055	Function	Argininosuccinate synthase activity	IBA
GO:0004055	Function	Argininosuccinate synthase activity	IEA
GO:0004055	Function	Argininosuccinate synthase activity	IMP	7977368, 8792870, 18473344, 27287393, 28985504
GO:0005515	Function	Protein binding	IPI	12620389, 17496144, 28587924, 28985504
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	6194510
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	IDA	28985504
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006526	Process	L-arginine biosynthetic process	IBA
GO:0006526	Process	L-arginine biosynthetic process	IEA
GO:0006526	Process	L-arginine biosynthetic process	IMP	8792870, 18473344, 27287393
GO:0006531	Process	Aspartate metabolic process	IMP	7977368
GO:0006953	Process	Acute-phase response	IEA
GO:0007494	Process	Midgut development	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0007623	Process	Circadian rhythm	IDA	28985504
GO:0007623	Process	Circadian rhythm	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0010043	Process	Response to zinc ion	IEA
GO:0010046	Process	Response to mycotoxin	IEA
GO:0014075	Process	Response to amine	IEA
GO:0015643	Function	Toxic substance binding	IEA
GO:0016597	Function	Amino acid binding	IMP	7977368
GO:0016874	Function	Ligase activity	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 21988832, 25416956
GO:0043025	Component	Neuronal cell body	IEA
GO:0043200	Process	Response to amino acid	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IMP	21106532
GO:0048545	Process	Response to steroid hormone	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0060416	Process	Response to growth hormone	IEA
GO:0060539	Process	Diaphragm development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070542	Process	Response to fatty acid	IEA
GO:0070852	Component	Cell body fiber	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071242	Process	Cellular response to ammonium ion	IEA
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071377	Process	Cellular response to glucagon stimulus	IEA
GO:0071400	Process	Cellular response to oleic acid	IEA
GO:0071418	Process	Cellular response to amine stimulus	IEA
GO:0071499	Process	Cellular response to laminar fluid shear stress	IMP	21106532
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:1903038	Process	Negative regulation of leukocyte cell-cell adhesion	IMP	21106532

MIM	HGNC	e!Ensembl
603470	758	ENSG00000130707

P00966

Protein name

Argininosuccinate synthase (EC 6.3.4.5) (Citrulline--aspartate ligase)

Protein function

One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline

PDB

2NZ2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00764	Arginosuc_synth	8 → 403	Arginosuccinate synthase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult liver. {ECO:0000269|PubMed:1708740}.

Sequence

MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVF
IEDVSREFVEEFIWPAIQSSALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATG
KGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDLMEYAKQHGIPIPVTPKNPWS
MDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
GTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAF
TMDREVRKIKQGLGLKFAELVYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYI
LGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLKEYHRLQSKVTAK

Sequence length

412

Interactions

View interactions

1051

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ASS1-related disorder	Pathogenic; Likely pathogenic	rs768215008, rs771937610, rs121908639, rs121908643, rs121908646, rs763191684, rs2490621864, rs770944877, rs1588496214	RCV004756500 RCV004755793 RCV003934804 RCV004755716 RCV003914816 RCV004756456 RCV003982273 RCV004756006 RCV003425879
Citrullinemia	Likely pathogenic; Pathogenic	rs759483921, rs2131882609, rs2118832409, rs2118864015, rs377319610, rs201445618, rs2118839419, rs2118880266, rs2118880626, rs768215008, rs2131874080, rs1453708640, rs2118832404, rs748264993, rs2131886482 View all (104 more)	RCV001387396 RCV001379245 RCV001377539 RCV001379731 RCV001383412 RCV001383413 RCV001383941 RCV001383471 RCV001385370 RCV003226684 RCV002221688 RCV001924015 RCV002033726 RCV001953710 RCV001949257 RCV001957533 RCV001932785 RCV002016489 RCV001991462 RCV002047287 RCV001951564 RCV001946378 RCV001888022 RCV001376639 RCV002228612 RCV001376598 RCV002228610 RCV001850390 RCV003070879 RCV003058237 RCV003062236 RCV001388057 RCV000633525 RCV001376580 RCV002833117 RCV002811830 RCV002844013 RCV002877109 RCV002867825 RCV002953007 RCV003000070 RCV001376548 RCV001376618 RCV001376631 RCV001376637 RCV001376575 RCV001376582 RCV002512847 RCV001376621 RCV001376581 RCV001376556 RCV001851704 RCV002512848 RCV002994081 RCV003044712 RCV003155830 RCV001376558 RCV002521863 RCV002519007 RCV001376552 RCV005627484 RCV003594697 RCV003594754 RCV003594818 RCV003594860 RCV003593586 RCV003594378 RCV003594441 RCV003760715 RCV003761019 RCV003759282 RCV003759446 RCV003759519 RCV001376638 RCV003878027 RCV002523853 RCV003593953 RCV001865271 RCV001376574 RCV003758760 RCV001290024 RCV002230974 RCV002231278 RCV003153687 RCV000552381 RCV001376549 RCV001376617 RCV002233957 RCV002233956 RCV001376559 RCV001376572 RCV002531260 RCV003594016 RCV001855437 RCV002531238 RCV002221574 RCV002532066 RCV002544676 RCV002233293 RCV002233206 RCV001376557 RCV001386473 RCV001869157 RCV000812699 RCV002235282 RCV002549237 RCV001376619 RCV001376579 RCV001860552 RCV002509589 RCV001377855 RCV001048427 RCV001042848 RCV001051566 RCV001216595 RCV001209466 RCV001222048 RCV001217877 RCV002241559 RCV001239626 RCV001238121 RCV003230657 RCV005089535 RCV001376591 RCV001247325 RCV001383414 RCV001290025
Citrullinemia type I	Likely pathogenic; Pathogenic	rs759483921, rs2118864015, rs2118880266, rs2118880170, rs2118841816, rs768215008, rs777828000, rs2131874080, rs774231051, rs748264993, rs1262020902, rs727503814, rs2490581929, rs2490553265, rs2490553577 View all (112 more)	RCV003462905 RCV001831372 RCV003462992 RCV001580630 RCV001580631 RCV003459808 RCV001780653 RCV003485733 RCV001824208 RCV003471179 RCV005361918 RCV000152808 RCV002306551 RCV002306751 RCV002309651 RCV002309921 RCV002309172 RCV002309502 RCV002307321 RCV002465026 RCV000169436 RCV000169181 RCV000169239 RCV000169103 RCV003459721 RCV000179704 RCV002500568 RCV000190357 RCV000006696 RCV000006698 RCV000006699 RCV000006700 RCV000006701 RCV000006702 RCV000006703 RCV000006704 RCV000006705 RCV000256312 RCV000256322 RCV000006711 RCV003464648 RCV000490502 RCV004572864 RCV000256238 RCV000256264 RCV000256276 RCV000256325 RCV003472933 RCV003474038 RCV003466399 RCV003463553 RCV003463555 RCV003466407 RCV003463563 RCV003474043 RCV003474045 RCV003474048 RCV003466414 RCV003466416 RCV003466417 RCV003463580 RCV003463588 RCV003466427 RCV003464658 RCV003464667 RCV003472922 RCV003494426 RCV004573204 RCV000286574 RCV003985971 RCV004018192 RCV004573741 RCV004573784 RCV004573787 RCV000411464 RCV000411227 RCV000411991 RCV000409826 RCV000410192 RCV000410118 RCV000409266 RCV000411785 RCV000411642 RCV003470378 RCV000672066 RCV000984146 RCV003459204 RCV001783037 RCV000529881 RCV000590599 RCV000633522 RCV000670490 RCV000668864 RCV000671912 RCV000674371 RCV000665063 RCV000668613 RCV000668137 RCV000673813 RCV000666397 RCV000668829 RCV000671967 RCV000670816 RCV000670744 RCV000672915 RCV000670815 RCV000665366 RCV000665132 RCV000669784 RCV000673280 RCV000668096 RCV000674984 RCV000695591 RCV000761224 RCV000761475 RCV000780873 RCV005049704 RCV001004327 RCV001004328 RCV001004329 RCV001004330 RCV001004331 RCV001004332 RCV001004534 RCV001004535 RCV001004536 RCV001004537 RCV001784584 RCV001827325 RCV001192847 RCV003462700 RCV003469382 RCV001246468 RCV001250094 RCV001283858 RCV000078020 RCV000078024 RCV001831814 RCV000078026 RCV000078027
Citrullinemia, mild	Pathogenic	rs121908646, rs121908647	RCV000006707 RCV000006708
Citrullinemia, type II, adult-onset	Pathogenic	rs774231051	RCV003987911
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Likely pathogenic; Pathogenic	rs775163147	RCV004544933
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1588495489	RCV005912367
Pancreatic adenocarcinoma	Pathogenic	rs982830431	RCV005900638
Papillary renal cell carcinoma type 1	Likely pathogenic	rs1845754405	RCV005909034
See cases	Likely pathogenic; Pathogenic	rs2131874080, rs372128852, rs775163147	RCV004584443 RCV002252073 RCV004584400
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs727503814, rs121908639	RCV005888383 RCV005887329
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs372128852	RCV005895455

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cardiac arrhythmia	Conflicting classifications of pathogenicity	rs1372482894	RCV004542186
Cervical cancer	Benign	rs45599031	RCV005915431
Clear cell carcinoma of kidney	Benign; Likely benign	rs73541957	RCV005889951
Familial pancreatic carcinoma	Benign	rs45599031	RCV005915433
Gastric cancer	Conflicting classifications of pathogenicity	rs2297599	RCV005908873
Hepatocellular carcinoma	Benign	rs543048	RCV005916787
Lung cancer	Benign	rs45599031	RCV005915437
Lymphoma	Benign	rs45599031	RCV005915434
Ovarian cancer	Benign	rs45599031	RCV005915432
Sarcoma	Likely benign	rs547904731	RCV005910822
Squamous cell lung carcinoma	-	rs1554982809	RCV005930182
Thymoma	Benign	rs45599031	RCV005915436

Show/Hide Text Mining Associations (71)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	37762133
Adult onset citrullinemia type 2	Inhibit	12512993
Adult onset citrullinemia type 2	Associate	35726796
Alzheimer Disease	Associate	11106581, 32119650
Attention Deficit Disorder with Hyperactivity	Stimulate	39173065
Breast Neoplasms	Associate	14770441, 35674458
Carcinogenesis	Associate	25333458
Carcinoma Endometrioid	Inhibit	28358054
Carcinoma Hepatocellular	Inhibit	14770441, 28587170, 35864952
Carcinoma Hepatocellular	Associate	25164070, 33856599
Carcinoma Lobular	Associate	40645971
Carcinoma Non Small Cell Lung	Associate	34382365
Carcinoma Pancreatic Ductal	Associate	28187218, 33395072
Carcinoma Renal Cell	Associate	14770441, 32308805
Citrullinemia	Associate	10987146, 11211875, 14770441, 20690080, 24713661, 25443352, 28750687, 3459354, 35726796, 36680390
Colitis Ulcerative	Associate	33323040
Colonic Neoplasms	Associate	14770441
Colorectal Neoplasms	Associate	27689335, 34227245
Deafness	Associate	9135384
Diabetes Mellitus Type 1	Associate	29695388
Diabetic Foot	Associate	38287255
Drug Hypersensitivity	Associate	23328665
Dystonia	Associate	1985454
Dystonia Musculorum Deformans	Associate	1347197
Endometrial Neoplasms	Associate	28358054, 31692912, 34195683
Episodic Ataxia	Associate	29695388
Esophageal Squamous Cell Carcinoma	Associate	36978187
Glioblastoma	Associate	23328665, 28245795, 29422017
Glioma	Associate	28245795, 29422017
Hyperammonemia	Associate	28750687, 34606567
Hyperglycemic Hyperosmolar Nonketotic Coma	Stimulate	36073820
Infections	Associate	24599530
Inflammation	Associate	21106532, 28658303
Leukemia	Associate	21972289
Lymphatic Metastasis	Associate	25333458
Lymphoma	Associate	22764101
Lymphoma Non Hodgkin	Associate	35782058
Lymphoma T Cell Cutaneous	Associate	22764101
Medulloblastoma	Associate	35782058
Melanoma	Inhibit	14770441, 23979920
Melanoma	Associate	22472884
MELAS Syndrome	Associate	34982085
Memory Disorders	Associate	30244387
Mesothelioma	Associate	26982031, 27452468, 36669126
Mesothelioma Malignant	Inhibit	27452468
Mesothelioma Malignant	Associate	36669126
Metabolism Inborn Errors	Associate	36361642
Myelodysplastic Syndromes	Associate	37366304
Nail Patella Syndrome	Associate	7825584
Nasopharyngeal Carcinoma	Associate	23897555, 28187218
Neoplasm Metastasis	Associate	23897555
Neoplasms	Associate	14770441, 19276647, 20466402, 22134507, 22472884, 22546217, 22764101, 23979920, 25164070, 25333458, 26096933, 27452468, 27689335, 27765932, 28900115 View all (8 more)
Neoplasms	Inhibit	23897555, 28187218, 28358054, 28587170, 28883660, 31795337, 32814773
Neuroblastoma	Associate	36319669
Neurocognitive Disorders	Associate	18925679
Neurotoxicity Syndromes	Stimulate	32119650
Pancreatic Neoplasms	Associate	28187218, 33051382
Plaque Amyloid	Stimulate	30244387
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	21972289
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	35962843, 37280363
Prostatic Neoplasms	Associate	22546217, 25122679
Prostatitis	Inhibit	14770441
Sarcoma	Associate	14770441, 27683125, 27735949, 29721066, 32814773
Seizures	Associate	34606567
Small Cell Lung Carcinoma	Associate	22134507
Stomach Neoplasms	Associate	25333458
Tarlov Cysts	Stimulate	25333458
Urea Cycle Disorders Inborn	Associate	30285816, 36361642
Urinary Bladder Neoplasms	Associate	28187218, 30214636
Uveal melanoma	Associate	35466524
Whooping Cough	Associate	24599530

ASS1 (argininosuccinate synthase 1)