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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3251
Gene name	Hypoxanthine phosphoribosyltransferase 1
Gene symbol	HPRT1
Synonyms (NCBI Gene)	HGPRTHPRT
Chromosome	X
Chromosome location	Xq26.2-q26.3
Summary	The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme pla

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137852477	T>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852478	A>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852479	A>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852480	T>C	Other, pathogenic	Coding sequence variant, missense variant
rs137852481	C>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852482	C>A,T	Other, pathogenic	Coding sequence variant, stop gained, missense variant
rs137852483	T>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852484	G>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852485	C>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852486	T>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852487	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852488	G>C	Other, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852489	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs137852490	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852491	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852492	G>T	Pathogenic	Coding sequence variant, missense variant
rs137852493	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852494	C>G,T	Other, pathogenic	Coding sequence variant, stop gained, missense variant
rs137852495	T>C	Other, pathogenic	Coding sequence variant, missense variant
rs137852496	T>A	Pathogenic	Coding sequence variant, missense variant
rs137852497	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs137852498	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852499	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852500	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852501	C>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852502	A>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852503	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852504	C>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852505	T>G	Other, pathogenic	Coding sequence variant, stop gained
rs137852506	C>T	Pathogenic	Coding sequence variant, missense variant
rs267606863	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs369065223	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs387906428	AATACAAAGCCTAAGATGAGA>-	Other, pathogenic	Inframe indel, 3 prime UTR variant, terminator codon variant, stop lost
rs387906725	G>A	Pathogenic	Missense variant, coding sequence variant
rs398123240	G>A	Pathogenic	Splice donor variant
rs398123241	G>A	Pathogenic	Splice acceptor variant
rs672601245	ATA>TTT	Pathogenic	Splice acceptor variant, intron variant
rs727503964	T>G	Pathogenic	Splice donor variant
rs786200980	->G	Pathogenic	Frameshift variant, coding sequence variant
rs886041288	GTGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041298	C>T	Pathogenic	Missense variant, coding sequence variant
rs886041930	C>T	Pathogenic	Missense variant, coding sequence variant
rs1131691486	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1135401801	G>T	Pathogenic	Missense variant, coding sequence variant
rs1556026984	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556030169	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556030344	AAATACAAAGCCTAAGATGAGA>-	Pathogenic	Terminator codon variant, 3 prime UTR variant, frameshift variant
rs1569354918	A>T	Pathogenic	Splice acceptor variant
rs1569359021	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569360089	G>A	Pathogenic	Intron variant
rs1569360139	G>A	Pathogenic	Intron variant
rs1602741150	T>G	Pathogenic	Coding sequence variant, missense variant
rs1602745376	A>G	Pathogenic	Splice acceptor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016412	hsa-miR-193b-3p	Microarray	20304954
MIRT025379	hsa-miR-34a-5p	qRT-PCR	19696787
MIRT048012	hsa-miR-30c-5p	CLASH	23622248
MIRT108873	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT108874	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT108886	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT108889	hsa-miR-3666	PAR-CLIP	20371350
MIRT108879	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT108880	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT108877	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT108887	hsa-miR-4295	PAR-CLIP	20371350
MIRT108885	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT571983	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT571982	hsa-miR-107	PAR-CLIP	20371350
MIRT108890	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT571981	hsa-miR-651-5p	PAR-CLIP	20371350
MIRT108873	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT108874	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT108886	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT108889	hsa-miR-3666	PAR-CLIP	20371350
MIRT108879	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT108880	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT108877	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT108887	hsa-miR-4295	PAR-CLIP	20371350
MIRT108885	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT571983	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT571982	hsa-miR-107	PAR-CLIP	20371350
MIRT108890	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT571981	hsa-miR-651-5p	PAR-CLIP	20371350
MIRT557011	hsa-miR-4282	PAR-CLIP	21572407
MIRT557010	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT557009	hsa-miR-548ab	PAR-CLIP	21572407
MIRT557008	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT557007	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT557006	hsa-miR-548ak	PAR-CLIP	21572407
MIRT557005	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT557004	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT557003	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT557002	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT557001	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT557000	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT556999	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT556998	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT556997	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT556996	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT556995	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT556994	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT556993	hsa-miR-548i	PAR-CLIP	21572407
MIRT556992	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT556991	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT556990	hsa-miR-548w	PAR-CLIP	21572407
MIRT556989	hsa-miR-548y	PAR-CLIP	21572407
MIRT556988	hsa-miR-559	PAR-CLIP	21572407
MIRT108869	hsa-miR-548av-5p	PAR-CLIP	21572407
MIRT108863	hsa-miR-548k	PAR-CLIP	21572407
MIRT108872	hsa-miR-8054	PAR-CLIP	21572407
MIRT556987	hsa-miR-548l	PAR-CLIP	21572407
MIRT108861	hsa-miR-577	PAR-CLIP	21572407
MIRT108868	hsa-miR-4744	PAR-CLIP	21572407
MIRT108866	hsa-miR-4509	PAR-CLIP	21572407
MIRT556986	hsa-miR-4799-5p	PAR-CLIP	21572407
MIRT556985	hsa-miR-4263	PAR-CLIP	21572407
MIRT556984	hsa-miR-576-5p	PAR-CLIP	21572407
MIRT108873	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT108874	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT108886	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT108889	hsa-miR-3666	PAR-CLIP	20371350
MIRT108879	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT108880	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT108877	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT108887	hsa-miR-4295	PAR-CLIP	20371350
MIRT108885	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT571983	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT571982	hsa-miR-107	PAR-CLIP	20371350
MIRT108890	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT571981	hsa-miR-651-5p	PAR-CLIP	20371350
MIRT108873	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT108874	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT108886	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT108889	hsa-miR-3666	PAR-CLIP	20371350
MIRT108879	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT108880	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT108877	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT108887	hsa-miR-4295	PAR-CLIP	20371350
MIRT108885	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT571983	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT571982	hsa-miR-107	PAR-CLIP	20371350
MIRT108890	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT571981	hsa-miR-651-5p	PAR-CLIP	20371350
MIRT557011	hsa-miR-4282	PAR-CLIP	21572407
MIRT557010	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT557009	hsa-miR-548ab	PAR-CLIP	21572407
MIRT557008	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT557007	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT557006	hsa-miR-548ak	PAR-CLIP	21572407
MIRT557005	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT557004	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT557003	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT557002	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT557001	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT557000	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT556999	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT556998	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT556997	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT556996	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT556995	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT556994	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT556993	hsa-miR-548i	PAR-CLIP	21572407
MIRT556992	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT556991	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT556990	hsa-miR-548w	PAR-CLIP	21572407
MIRT556989	hsa-miR-548y	PAR-CLIP	21572407
MIRT556988	hsa-miR-559	PAR-CLIP	21572407
MIRT108869	hsa-miR-548av-5p	PAR-CLIP	21572407
MIRT108863	hsa-miR-548k	PAR-CLIP	21572407
MIRT108872	hsa-miR-8054	PAR-CLIP	21572407
MIRT556987	hsa-miR-548l	PAR-CLIP	21572407
MIRT108861	hsa-miR-577	PAR-CLIP	21572407
MIRT108868	hsa-miR-4744	PAR-CLIP	21572407
MIRT108866	hsa-miR-4509	PAR-CLIP	21572407
MIRT556986	hsa-miR-4799-5p	PAR-CLIP	21572407
MIRT556985	hsa-miR-4263	PAR-CLIP	21572407
MIRT556984	hsa-miR-576-5p	PAR-CLIP	21572407
MIRT755876	hsa-miR-125b-5p	Western blottingqRT-PCRin vitro cullelar assays	37810145
MIRT1054165	hsa-miR-103a	CLIP-seq
MIRT1054166	hsa-miR-130a	CLIP-seq
MIRT1054167	hsa-miR-130b	CLIP-seq
MIRT1054168	hsa-miR-1323	CLIP-seq
MIRT1054169	hsa-miR-193a-3p	CLIP-seq
MIRT1054170	hsa-miR-193b	CLIP-seq
MIRT1054171	hsa-miR-19a	CLIP-seq
MIRT1054172	hsa-miR-19b	CLIP-seq
MIRT1054173	hsa-miR-301a	CLIP-seq
MIRT1054174	hsa-miR-301b	CLIP-seq
MIRT1054175	hsa-miR-3117-3p	CLIP-seq
MIRT1054176	hsa-miR-3161	CLIP-seq
MIRT1054177	hsa-miR-3169	CLIP-seq
MIRT1054178	hsa-miR-3545-3p	CLIP-seq
MIRT1054179	hsa-miR-4436a	CLIP-seq
MIRT1054180	hsa-miR-4471	CLIP-seq
MIRT1054181	hsa-miR-454	CLIP-seq
MIRT1054182	hsa-miR-4680-5p	CLIP-seq
MIRT1054183	hsa-miR-4701-5p	CLIP-seq
MIRT1054184	hsa-miR-4724-5p	CLIP-seq
MIRT1054185	hsa-miR-4759	CLIP-seq
MIRT1054186	hsa-miR-4773	CLIP-seq
MIRT1054187	hsa-miR-4775	CLIP-seq
MIRT1054188	hsa-miR-4796-5p	CLIP-seq
MIRT1054189	hsa-miR-494	CLIP-seq
MIRT1054190	hsa-miR-508-5p	CLIP-seq
MIRT1054191	hsa-miR-511	CLIP-seq
MIRT1054192	hsa-miR-548h	CLIP-seq
MIRT1054193	hsa-miR-548j	CLIP-seq
MIRT1054194	hsa-miR-548o	CLIP-seq
MIRT1054195	hsa-miR-588	CLIP-seq
MIRT1054196	hsa-miR-590-3p	CLIP-seq
MIRT1054197	hsa-miR-626	CLIP-seq
MIRT1054198	hsa-miR-651	CLIP-seq
MIRT1054199	hsa-miR-665	CLIP-seq
MIRT1054200	hsa-miR-892b	CLIP-seq
MIRT2012287	hsa-miR-1273g	CLIP-seq
MIRT1054169	hsa-miR-193a-3p	CLIP-seq
MIRT1054170	hsa-miR-193b	CLIP-seq
MIRT2012288	hsa-miR-299-5p	CLIP-seq
MIRT1054175	hsa-miR-3117-3p	CLIP-seq
MIRT2012289	hsa-miR-3124-3p	CLIP-seq
MIRT2012290	hsa-miR-3136-5p	CLIP-seq
MIRT2012291	hsa-miR-3148	CLIP-seq
MIRT1054176	hsa-miR-3161	CLIP-seq
MIRT1054177	hsa-miR-3169	CLIP-seq
MIRT2012292	hsa-miR-323-3p	CLIP-seq
MIRT2012293	hsa-miR-338-5p	CLIP-seq
MIRT2012294	hsa-miR-34b	CLIP-seq
MIRT2012295	hsa-miR-3978	CLIP-seq
MIRT2012296	hsa-miR-4272	CLIP-seq
MIRT2012297	hsa-miR-4439	CLIP-seq
MIRT2012298	hsa-miR-4473	CLIP-seq
MIRT1054183	hsa-miR-4701-5p	CLIP-seq
MIRT2012299	hsa-miR-4705	CLIP-seq
MIRT1054185	hsa-miR-4759	CLIP-seq
MIRT1054186	hsa-miR-4773	CLIP-seq
MIRT1054187	hsa-miR-4775	CLIP-seq
MIRT2012300	hsa-miR-505	CLIP-seq
MIRT1054190	hsa-miR-508-5p	CLIP-seq
MIRT2012301	hsa-miR-512-3p	CLIP-seq
MIRT2012302	hsa-miR-520f	CLIP-seq
MIRT2012303	hsa-miR-550b	CLIP-seq
MIRT1054195	hsa-miR-588	CLIP-seq
MIRT1054196	hsa-miR-590-3p	CLIP-seq
MIRT2012304	hsa-miR-600	CLIP-seq
MIRT1054200	hsa-miR-892b	CLIP-seq
MIRT2012305	hsa-miR-943	CLIP-seq
MIRT1054165	hsa-miR-103a	CLIP-seq
MIRT2012287	hsa-miR-1273g	CLIP-seq
MIRT1054166	hsa-miR-130a	CLIP-seq
MIRT1054167	hsa-miR-130b	CLIP-seq
MIRT1054169	hsa-miR-193a-3p	CLIP-seq
MIRT1054170	hsa-miR-193b	CLIP-seq
MIRT1054171	hsa-miR-19a	CLIP-seq
MIRT1054172	hsa-miR-19b	CLIP-seq
MIRT2012288	hsa-miR-299-5p	CLIP-seq
MIRT1054173	hsa-miR-301a	CLIP-seq
MIRT1054174	hsa-miR-301b	CLIP-seq
MIRT1054175	hsa-miR-3117-3p	CLIP-seq
MIRT2012291	hsa-miR-3148	CLIP-seq
MIRT1054176	hsa-miR-3161	CLIP-seq
MIRT1054177	hsa-miR-3169	CLIP-seq
MIRT2012292	hsa-miR-323-3p	CLIP-seq
MIRT2012293	hsa-miR-338-5p	CLIP-seq
MIRT2244652	hsa-miR-3658	CLIP-seq
MIRT2012295	hsa-miR-3978	CLIP-seq
MIRT2012296	hsa-miR-4272	CLIP-seq
MIRT1054180	hsa-miR-4471	CLIP-seq
MIRT2012298	hsa-miR-4473	CLIP-seq
MIRT2244653	hsa-miR-4490	CLIP-seq
MIRT1054181	hsa-miR-454	CLIP-seq
MIRT1054183	hsa-miR-4701-5p	CLIP-seq
MIRT1054184	hsa-miR-4724-5p	CLIP-seq
MIRT1054185	hsa-miR-4759	CLIP-seq
MIRT1054186	hsa-miR-4773	CLIP-seq
MIRT1054187	hsa-miR-4775	CLIP-seq
MIRT1054188	hsa-miR-4796-5p	CLIP-seq
MIRT2012300	hsa-miR-505	CLIP-seq
MIRT1054190	hsa-miR-508-5p	CLIP-seq
MIRT2012301	hsa-miR-512-3p	CLIP-seq
MIRT2012302	hsa-miR-520f	CLIP-seq
MIRT1054192	hsa-miR-548h	CLIP-seq
MIRT1054193	hsa-miR-548j	CLIP-seq
MIRT1054195	hsa-miR-588	CLIP-seq
MIRT1054196	hsa-miR-590-3p	CLIP-seq
MIRT1054198	hsa-miR-651	CLIP-seq
MIRT1054200	hsa-miR-892b	CLIP-seq
MIRT1054168	hsa-miR-1323	CLIP-seq
MIRT1054169	hsa-miR-193a-3p	CLIP-seq
MIRT1054170	hsa-miR-193b	CLIP-seq
MIRT2547516	hsa-miR-3074-5p	CLIP-seq
MIRT1054175	hsa-miR-3117-3p	CLIP-seq
MIRT2012289	hsa-miR-3124-3p	CLIP-seq
MIRT2012290	hsa-miR-3136-5p	CLIP-seq
MIRT1054176	hsa-miR-3161	CLIP-seq
MIRT2547517	hsa-miR-3163	CLIP-seq
MIRT1054177	hsa-miR-3169	CLIP-seq
MIRT2012293	hsa-miR-338-5p	CLIP-seq
MIRT2012294	hsa-miR-34b	CLIP-seq
MIRT2547518	hsa-miR-3647-3p	CLIP-seq
MIRT2012296	hsa-miR-4272	CLIP-seq
MIRT2547519	hsa-miR-4420	CLIP-seq
MIRT1054179	hsa-miR-4436a	CLIP-seq
MIRT2012297	hsa-miR-4439	CLIP-seq
MIRT2244653	hsa-miR-4490	CLIP-seq
MIRT1054183	hsa-miR-4701-5p	CLIP-seq
MIRT2012299	hsa-miR-4705	CLIP-seq
MIRT1054185	hsa-miR-4759	CLIP-seq
MIRT1054186	hsa-miR-4773	CLIP-seq
MIRT1054187	hsa-miR-4775	CLIP-seq
MIRT1054189	hsa-miR-494	CLIP-seq
MIRT1054190	hsa-miR-508-5p	CLIP-seq
MIRT1054191	hsa-miR-511	CLIP-seq
MIRT1054192	hsa-miR-548h	CLIP-seq
MIRT1054193	hsa-miR-548j	CLIP-seq
MIRT1054194	hsa-miR-548o	CLIP-seq
MIRT2012303	hsa-miR-550b	CLIP-seq
MIRT1054195	hsa-miR-588	CLIP-seq
MIRT1054196	hsa-miR-590-3p	CLIP-seq
MIRT1054197	hsa-miR-626	CLIP-seq
MIRT1054199	hsa-miR-665	CLIP-seq
MIRT1054200	hsa-miR-892b	CLIP-seq
MIRT2012305	hsa-miR-943	CLIP-seq
MIRT1054168	hsa-miR-1323	CLIP-seq
MIRT1054169	hsa-miR-193a-3p	CLIP-seq
MIRT1054170	hsa-miR-193b	CLIP-seq
MIRT2012290	hsa-miR-3136-5p	CLIP-seq
MIRT1054176	hsa-miR-3161	CLIP-seq
MIRT2547517	hsa-miR-3163	CLIP-seq
MIRT2012293	hsa-miR-338-5p	CLIP-seq
MIRT2012294	hsa-miR-34b	CLIP-seq
MIRT2547518	hsa-miR-3647-3p	CLIP-seq
MIRT2012296	hsa-miR-4272	CLIP-seq
MIRT1054179	hsa-miR-4436a	CLIP-seq
MIRT2012297	hsa-miR-4439	CLIP-seq
MIRT1054183	hsa-miR-4701-5p	CLIP-seq
MIRT2012299	hsa-miR-4705	CLIP-seq
MIRT1054186	hsa-miR-4773	CLIP-seq
MIRT1054187	hsa-miR-4775	CLIP-seq
MIRT1054189	hsa-miR-494	CLIP-seq
MIRT1054191	hsa-miR-511	CLIP-seq
MIRT1054192	hsa-miR-548h	CLIP-seq
MIRT1054193	hsa-miR-548j	CLIP-seq
MIRT1054194	hsa-miR-548o	CLIP-seq
MIRT2012303	hsa-miR-550b	CLIP-seq
MIRT1054195	hsa-miR-588	CLIP-seq
MIRT1054196	hsa-miR-590-3p	CLIP-seq
MIRT1054197	hsa-miR-626	CLIP-seq
MIRT1054199	hsa-miR-665	CLIP-seq
MIRT1054200	hsa-miR-892b	CLIP-seq
MIRT2012305	hsa-miR-943	CLIP-seq

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IBA
GO:0000287	Function	Magnesium ion binding	IDA	10360366
GO:0001913	Process	T cell mediated cytotoxicity	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0004422	Function	Hypoxanthine phosphoribosyltransferase activity	IBA
GO:0004422	Function	Hypoxanthine phosphoribosyltransferase activity	IDA	6300847, 9521733, 19527031
GO:0004422	Function	Hypoxanthine phosphoribosyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 25910212, 31515488, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IDA	6300847
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IMP	9824441
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006166	Process	Purine ribonucleoside salvage	IMP	9824441
GO:0006178	Process	Guanine salvage	IBA
GO:0006178	Process	Guanine salvage	IDA	19527031
GO:0007625	Process	Grooming behavior	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0021756	Process	Striatum development	IEA
GO:0021895	Process	Cerebral cortex neuron differentiation	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0032263	Process	GMP salvage	IBA
GO:0032263	Process	GMP salvage	IDA	4208686
GO:0032263	Process	GMP salvage	IEA
GO:0032264	Process	IMP salvage	IBA
GO:0032264	Process	IMP salvage	IEA
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	8044844, 25416956, 25502805, 31515488, 32296183
GO:0043103	Process	Hypoxanthine salvage	IDA	19527031
GO:0044209	Process	AMP salvage	IEA
GO:0045964	Process	Positive regulation of dopamine metabolic process	IMP	8643611
GO:0046038	Process	GMP catabolic process	IDA	19527031
GO:0046040	Process	IMP metabolic process	IDA	19527031
GO:0046083	Process	Adenine metabolic process	IEA
GO:0046100	Process	Hypoxanthine metabolic process	IBA
GO:0046100	Process	Hypoxanthine metabolic process	IEA
GO:0046100	Process	Hypoxanthine metabolic process	IEA
GO:0046100	Process	Hypoxanthine metabolic process	IMP	9824441
GO:0046651	Process	Lymphocyte proliferation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0051289	Process	Protein homotetramerization	IPI	15990111
GO:0052657	Function	Guanine phosphoribosyltransferase activity	IDA	4208686, 19527031
GO:0052657	Function	Guanine phosphoribosyltransferase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071542	Process	Dopaminergic neuron differentiation	IEA

MIM	HGNC	e!Ensembl
308000	5157	ENSG00000165704

P00492

Protein name

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (HGPRTase) (EC 2.4.2.8)

Protein function

Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through

PDB

1BZY , 1D6N , 1HMP , 1Z7G , 2VFA , 3GEP , 3GGC , 3GGJ , 4IJQ , 4KN6 , 4RAB , 4RAC , 4RAD , 4RAN , 4RAO , 4RAQ , 5BRN , 5BSK , 5HIA , 5W8V , 6BNJ , 7SAN , 8TPY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00156	Pribosyltran	36 → 196	Phosphoribosyl transferase domain	Domain

Sequence

MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGH
HIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGD
DLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVG
FEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA

Sequence length

218

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Drug metabolism - other enzymes Metabolic pathways Nucleotide metabolism		Purine salvage

414

Show/Hide Causal Diseases (33)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
HPRT ANN ARBOR	Pathogenic	rs137852477	RCV000010713
HPRT ARLINGTON	Likely pathogenic	rs137852478	RCV000010715
HPRT ASHVILLE	Pathogenic	rs137852479	RCV000010717
HPRT CHERMSIDE	Pathogenic	rs2077673385	RCV001255650
HPRT CHICAGO	Pathogenic	rs2077615673	RCV001255648
HPRT COORPAROO	Pathogenic	rs2077615719	RCV001255651
HPRT DETROIT	Pathogenic	rs137852480	RCV000010723
HPRT EVANSVILLE	Pathogenic	rs387906428	RCV000010725
HPRT FLINT	Pathogenic	rs137852481	RCV000010727
HPRT FUJIMI	Pathogenic	rs137852494	RCV000010762
HPRT LONDON	Likely pathogenic	rs137852482	RCV000010731
HPRT MICHIGAN	Pathogenic	rs2520840422	RCV001255646
HPRT MIDLAND	Pathogenic	rs137852483	RCV000010735
HPRT MILWAUKEE	Likely pathogenic	rs137852484	RCV000010737
HPRT MONTREAL	Pathogenic	rs137852495	RCV000010764
HPRT MOOSE JAW	Pathogenic	rs137852504	RCV000010792
HPRT MUNICH	Pathogenic	rs137852485	RCV000010739
HPRT NEW BRITON	Pathogenic	rs137852486	RCV000010741
HPRT NEW HAVEN	Pathogenic	rs137852487	RCV000010743
HPRT PARIS	Pathogenic	rs137852505	RCV000010794
HPRT SWAN	Pathogenic	rs137852501	RCV000010782
HPRT TOOWONG	Pathogenic	rs137852500	RCV000010780
HPRT TORONTO	Pathogenic	rs137852494	RCV000010760
HPRT URANGAN	Pathogenic	rs137852499	RCV000010778
HPRT YALE	Likely pathogenic	rs137852488	RCV000010745
HPRT1-related disorder	Likely pathogenic; Pathogenic	rs1569360139, rs1569354918, rs137852495, rs387906725	RCV004545723 RCV004549355 RCV004545724 RCV003398561
Lesch-Nyhan syndrome	Pathogenic; Likely pathogenic	rs2077687093, rs2124280474, rs2124291450, rs2124305307, rs2124302051, rs2124280518, rs2124290355, rs2124305218, rs2124305315, rs2124302024, rs2124290378, rs398123240, rs2124291470, rs2124280504, rs786200980 View all (50 more)	RCV001342916 RCV001377126 RCV001387578 RCV001542504 RCV002037640 RCV001941798 RCV001889471 RCV001973926 RCV001972480 RCV001951336 RCV002249075 RCV002249076 RCV002250052 RCV002274283 RCV001198061 RCV002471511 RCV003041482 RCV003050653 RCV003066379 RCV003050654 RCV003142331 RCV001851783 RCV000010718 RCV000010722 RCV000010724 RCV000010726 RCV000010728 RCV003764546 RCV000010732 RCV000010734 RCV003764547 RCV000010740 RCV000010742 RCV000010744 RCV000010746 RCV000010747 RCV000010748 RCV000010749 RCV000010751 RCV000010752 RCV000010753 RCV000010754 RCV000010755 RCV000010756 RCV000010757 RCV000010758 RCV000010761 RCV000010765 RCV000010766 RCV000010783 RCV000010785 RCV000010793 RCV003444515 RCV003783780 RCV003783781 RCV003782792 RCV003805364 RCV000690811 RCV000496113 RCV000631415 RCV000706332 RCV000810491 RCV000800143 RCV000990949 RCV001067702 RCV001051587 RCV001063460 RCV001045083 RCV001233727 RCV005222740 RCV001854376
Lesch-nyhan syndrome, neurologic variant	Pathogenic	rs137852495, rs387906725	RCV000010763 RCV000022877
Microcephaly	Pathogenic	rs137852494	RCV001252944
Nephrolithiasis/nephrocalcinosis	Likely pathogenic	rs2520785056, rs1556026984	RCV004057171 RCV004025274
Nonpapillary renal cell carcinoma	Pathogenic	rs398123241	RCV005886165
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Pathogenic; Likely pathogenic	rs2077687093, rs2124280474, rs2124291450, rs2124302051, rs2124280518, rs2124290355, rs2124305218, rs2124305315, rs2124302024, rs786200980, rs2520785689, rs2520813482, rs2520844451, rs137852477, rs137852478 View all (30 more)	RCV001342916 RCV001377126 RCV001387578 RCV002037640 RCV001941798 RCV001889471 RCV001973926 RCV001972480 RCV001951336 RCV001229151 RCV003041482 RCV003050653 RCV003066379 RCV003050654 RCV000010712 RCV000010714 RCV000010716 RCV000010730 RCV000010736 RCV000010738 RCV001851784 RCV000631414 RCV001250108 RCV000010759 RCV001224361 RCV003764548 RCV000010776 RCV000010777 RCV000010779 RCV000010781 RCV003764549 RCV000010791 RCV000010796 RCV003783780 RCV003783781 RCV003782792 RCV003805364 RCV000690811 RCV000631415 RCV000706332 RCV000810491 RCV000800143 RCV001067702 RCV001051587 RCV001063460 RCV001045083 RCV001233727 RCV005222740 RCV001854376
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs137852484, rs398123241	RCV005912505 RCV005886166

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs5933415	RCV005922515
History of neurodevelopmental disorder	Uncertain significance	rs137852489	RCV000718469
HPRT EDINBURGH	Uncertain significance	rs137852502	RCV000010788
HPRT TOKYO	Uncertain significance	rs137852503	RCV000010790

Show/Hide Text Mining Associations (79)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	9868957
Alzheimer Disease	Associate	21305049
Anemia Sickle Cell	Associate	10828048
Arthritis Gouty	Associate	19565499
Ataxia Telangiectasia	Associate	11714443
Brain Diseases	Associate	36445406
Breast Neoplasms	Associate	18158561, 26586723, 8143613
Carcinoma Hepatocellular	Associate	19200351
Carcinoma Renal Cell	Associate	18072593
Carcinoma Squamous Cell	Associate	34940125
Cognition Disorders	Associate	25612837
Colonic Neoplasms	Associate	20186333
Colorectal Neoplasms	Associate	21059236, 32424999, 8022779
Developmental Disabilities	Associate	17448149
Dystonia	Associate	36445406
Elejalde Disease	Associate	21305049
Encephalitis	Associate	23639073
Encephalomyelitis Autoimmune Experimental	Associate	8040252
Fanconi Anemia	Associate	2236046, 7846061
Femur Head Necrosis	Associate	27323096
Fibrosarcoma	Associate	1333045
Fibrosis	Associate	32317146
Genetic Diseases Inborn	Associate	11452360, 3944251
Genetic Diseases X Linked	Associate	28712454
Glioblastoma	Associate	19257903
Glioma	Associate	31870167
Glucose Intolerance	Associate	36445406
Gout	Associate	1184748, 21054786, 3358423, 4353774, 4527800, 6309910, 6572373, 6706936, 6853490
Gout HPRT Related	Associate	10657589, 25136576
Hemoglobinuria Paroxysmal	Associate	11756148
Heredodegenerative Disorders Nervous System	Associate	2827006
HIV Infections	Associate	9045868
Hyper IgM Immunodeficiency Syndrome Type 1	Associate	8097258
Hyperuricemia	Associate	11818556, 18287946, 19565499, 22194167, 25136576, 26073243, 2896620, 4341698
Hypopharyngeal Neoplasms	Associate	31173291
Immunologic Deficiency Syndromes	Associate	6309910
Infections	Associate	38154384
Inflammation	Associate	21383199
Inflammatory Bowel Diseases	Associate	32424999
Juvenile gout	Associate	32128695
Kernicterus	Associate	36445406
Laryngeal Neoplasms	Associate	31173291
Lesch Nyhan Syndrome	Associate	11818556, 17225873, 18287946, 19672249, 20407427, 2071157, 20981450, 21054786, 22042773, 22157001, 23691025, 24075303, 24206569, 24383089, 24940671 View all (35 more)
Lesch Nyhan Syndrome	Inhibit	17448149, 19565499, 21305049, 22331909, 24326440, 25612837, 2760209, 2827006, 32128695, 4624352, 9868957
Leukemia Lymphocytic Chronic B Cell	Associate	20813001
Leukemia Promyelocytic Acute	Associate	12632522, 3479681
Liver Neoplasms	Associate	34752497
Malformations of Cortical Development	Associate	23639073
Melanoma	Associate	34940125
Mental Retardation X Linked	Associate	1746558
Metabolic Syndrome	Associate	11452360
Motor Disorders	Associate	34214487
Multiple Myeloma	Associate	24813078
Multiple Sclerosis	Associate	8040252
Muscular dystrophy congenital with central nervous system involvement	Associate	19565499
Myelodysplastic Syndromes	Associate	2562924
Nasopharyngeal Carcinoma	Associate	21052085
Neoplasms	Associate	15543203, 19650912, 20186333, 26586723, 34231338, 34841291, 34940125, 36110123, 37371537, 37773022, 8022779
Neoplasms	Stimulate	8143613
Nephrolithiasis	Associate	19565499, 2896620
Nervous System Diseases	Associate	19672249
Neurobehavioral Manifestations	Associate	25612837
Neuroblastoma	Associate	15681479
Neurologic Manifestations	Associate	19565499, 2827006
Oculocerebrorenal Syndrome	Associate	2081601
Osteosarcoma	Associate	34035425
Ovarian Neoplasms	Associate	16158952, 24443563
Polycystic Ovary Syndrome	Associate	28761164, 32729067
Polyomavirus Infections	Associate	1333045
Prostatic Neoplasms	Associate	29386530, 33812866
Pulmonary Disease Chronic Obstructive	Associate	31601710
Small Cell Lung Carcinoma	Associate	37773022
Squamous Cell Carcinoma of Head and Neck	Associate	19650912, 33628816, 34231338, 37371537
Stomach Neoplasms	Associate	20507635
Thyroid Cancer Papillary	Associate	31645594
Thyroid Neoplasms	Associate	1973172
Urinary Bladder Neoplasms	Associate	27835695
Werner Syndrome	Associate	2762303
Xeroderma Pigmentosum	Associate	18158561

HPRT1 (hypoxanthine phosphoribosyltransferase 1)