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GNAS (GNAS complex locus)

Gene

2778

GNAS complex locus

GNAS

AHO, AIMAH1, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI

20q13.32

This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5` exons. Some transcripts contain a differentially methyla

Show/Hide all(53)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11554273	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs111541229	G>C,T	Likely-pathogenic	Splice donor variant, intron variant
rs113029858	G>C,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs121913494	A>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant, missense variant
rs121913495	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs137854530	A>G,T	Likely-pathogenic, pathogenic	Upstream transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant, non coding transcript variant, missense variant, initiator codon variant
rs137854531	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs137854532	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs137854533	G>C,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant, missense variant
rs137854534	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant, missense variant
rs137854535	C>T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant, missense variant
rs137854536	CG>GC	Pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant, missense variant
rs137854537	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs137854538	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant, missense variant
rs137854539	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs201332059	T>G	Not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, intron variant
rs397514456	G>A,T	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs397514457	T>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs587776829	GACT>-	Pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs774711025	CTG>-,CTGCTG	Pathogenic	Upstream transcript variant, inframe deletion, intron variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, inframe insertion
rs797044895	A>G	Likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, 5 prime UTR variant, missense variant, coding sequence variant
rs797045046	C>G,T	Pathogenic	Upstream transcript variant, stop gained, intron variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs797045203	C>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, missense variant, coding sequence variant, downstream transcript variant
rs863224876	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant
rs886039383	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs886039677	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, downstream transcript variant
rs1057518224	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant, genic downstream transcript variant
rs1057518907	C>G,T	Pathogenic	Intron variant, coding sequence variant, upstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained, missense variant
rs1057520715	G>A	Pathogenic	Intron variant, coding sequence variant, upstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs1064794045	G>C	Pathogenic	Intron variant, coding sequence variant, upstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs1064795798	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant, genic downstream transcript variant
rs1085307719	CGCCAT>-	Pathogenic	Intron variant, inframe deletion, upstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, initiator codon variant
rs1131691999	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant, genic downstream transcript variant
rs1135401777	G>A	Likely-pathogenic	Intron variant, coding sequence variant, synonymous variant, genic upstream transcript variant, missense variant
rs1272546759	C>G,T	Likely-pathogenic	Missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant, 3 prime UTR variant
rs1555883949	T>C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, missense variant, intron variant, upstream transcript variant, initiator codon variant
rs1555889031	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, 3 prime UTR variant
rs1555889131	G>A	Pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant
rs1555891562	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, 3 prime UTR variant
rs1555891584	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, 3 prime UTR variant
rs1555891728	CGCTGAGAAAGTCCT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, inframe deletion
rs1555891743	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, 3 prime UTR variant
rs1569015549	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, 3 prime UTR variant
rs1569020396	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, 3 prime UTR variant
rs1569031388	->C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, frameshift variant
rs1569032751	CAT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, inframe deletion
rs1601115202	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant
rs1601115231	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant
rs1601162438	C>T	Pathogenic	Non coding transcript variant, downstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, 3 prime UTR variant
rs1601163749	C>-	Pathogenic	Non coding transcript variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, frameshift variant
rs1601164303	->GG	Pathogenic	Non coding transcript variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, frameshift variant
rs1601164378	G>C	Pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs1601166850	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant

Show/Hide all(310)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020904	hsa-miR-155-5p	Proteomics	18668040
MIRT052019	hsa-let-7b-5p	CLASH	23622248
MIRT051047	hsa-miR-17-5p	CLASH	23622248
MIRT044478	hsa-miR-320a	CLASH	23622248
MIRT044478	hsa-miR-320a	CLASH	23622248
MIRT043309	hsa-miR-331-3p	CLASH	23622248
MIRT042911	hsa-miR-324-3p	CLASH	23622248
MIRT040832	hsa-miR-18a-3p	CLASH	23622248
MIRT039683	hsa-miR-615-3p	CLASH	23622248
MIRT039683	hsa-miR-615-3p	CLASH	23622248
MIRT036192	hsa-miR-320b	CLASH	23622248
MIRT036192	hsa-miR-320b	CLASH	23622248
MIRT154876	hsa-miR-5196-3p	HITS-CLIP	23313552
MIRT703282	hsa-miR-4793-5p	HITS-CLIP	23313552
MIRT154852	hsa-miR-205-5p	HITS-CLIP	23313552
MIRT154853	hsa-miR-212-5p	HITS-CLIP	23313552
MIRT154861	hsa-miR-532-3p	HITS-CLIP	23313552
MIRT703281	hsa-miR-6847-3p	HITS-CLIP	23313552
MIRT703280	hsa-miR-3622b-5p	HITS-CLIP	23313552
MIRT154857	hsa-miR-376a-3p	HITS-CLIP	23313552
MIRT154858	hsa-miR-376b-3p	HITS-CLIP	23313552
MIRT154856	hsa-miR-188-3p	HITS-CLIP	23313552
MIRT703279	hsa-miR-425-3p	HITS-CLIP	23313552
MIRT703278	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT703277	hsa-miR-4642	HITS-CLIP	23313552
MIRT154882	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT154889	hsa-miR-4280	PAR-CLIP	21572407
MIRT154900	hsa-miR-4768-3p	PAR-CLIP	21572407
MIRT154895	hsa-miR-4459	PAR-CLIP	21572407
MIRT154894	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT154876	hsa-miR-5196-3p	PAR-CLIP	21572407
MIRT154891	hsa-miR-3664-3p	PAR-CLIP	21572407
MIRT154885	hsa-miR-1299	PAR-CLIP	21572407
MIRT493776	hsa-miR-516b-5p	PAR-CLIP	21572407
MIRT493775	hsa-miR-4782-5p	PAR-CLIP	21572407
MIRT493774	hsa-miR-5706	PAR-CLIP	21572407
MIRT493761	hsa-miR-18a-5p	PAR-CLIP	23446348
MIRT493760	hsa-miR-18b-5p	PAR-CLIP	23446348
MIRT493759	hsa-miR-4735-3p	PAR-CLIP	23446348
MIRT493758	hsa-miR-888-3p	PAR-CLIP	23446348
MIRT493757	hsa-miR-219b-5p	PAR-CLIP	23446348
MIRT154882	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT493778	hsa-miR-6838-3p	PAR-CLIP	23592263
MIRT154889	hsa-miR-4280	PAR-CLIP	23592263
MIRT154900	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT154895	hsa-miR-4459	PAR-CLIP	23592263
MIRT154894	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT154876	hsa-miR-5196-3p	PAR-CLIP	23592263
MIRT154891	hsa-miR-3664-3p	PAR-CLIP	23592263
MIRT154884	hsa-miR-875-3p	PAR-CLIP	23592263
MIRT493777	hsa-miR-6128	PAR-CLIP	23592263
MIRT154897	hsa-miR-4540	PAR-CLIP	23592263
MIRT154885	hsa-miR-1299	PAR-CLIP	23592263
MIRT493776	hsa-miR-516b-5p	PAR-CLIP	23592263
MIRT493775	hsa-miR-4782-5p	PAR-CLIP	23592263
MIRT493774	hsa-miR-5706	PAR-CLIP	23592263
MIRT154898	hsa-miR-3978	PAR-CLIP	23592263
MIRT493773	hsa-miR-3129-5p	PAR-CLIP	23592263
MIRT493772	hsa-miR-199b-3p	PAR-CLIP	23592263
MIRT493771	hsa-miR-199a-3p	PAR-CLIP	23592263
MIRT493770	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT493769	hsa-miR-4274	PAR-CLIP	23592263
MIRT493768	hsa-miR-4519	PAR-CLIP	23592263
MIRT493767	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT493766	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT493765	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT493764	hsa-miR-6786-3p	PAR-CLIP	23592263
MIRT493763	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT493762	hsa-miR-3665	PAR-CLIP	23592263
MIRT154901	hsa-miR-6073	PAR-CLIP	23592263
MIRT493761	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT493760	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT493759	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT493758	hsa-miR-888-3p	PAR-CLIP	23592263
MIRT493757	hsa-miR-219b-5p	PAR-CLIP	23592263
MIRT440558	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT154882	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT020904	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT154852	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT440557	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440556	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440555	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT440554	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440553	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440555	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT440554	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440553	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440552	hsa-miR-432-3p	HITS-CLIP	24374217
MIRT440558	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT154882	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT020904	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT051047	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT727562	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT727561	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT727560	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT154852	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT440557	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440556	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440555	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT440554	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440553	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440555	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT440554	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440553	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440552	hsa-miR-432-3p	HITS-CLIP	24374217
MIRT154876	hsa-miR-5196-3p	HITS-CLIP	23313552
MIRT703282	hsa-miR-4793-5p	HITS-CLIP	23313552
MIRT154852	hsa-miR-205-5p	HITS-CLIP	23313552
MIRT154853	hsa-miR-212-5p	HITS-CLIP	23313552
MIRT154861	hsa-miR-532-3p	HITS-CLIP	23313552
MIRT703281	hsa-miR-6847-3p	HITS-CLIP	23313552
MIRT703280	hsa-miR-3622b-5p	HITS-CLIP	23313552
MIRT154857	hsa-miR-376a-3p	HITS-CLIP	23313552
MIRT154858	hsa-miR-376b-3p	HITS-CLIP	23313552
MIRT154856	hsa-miR-188-3p	HITS-CLIP	23313552
MIRT703279	hsa-miR-425-3p	HITS-CLIP	23313552
MIRT703278	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT703277	hsa-miR-4642	HITS-CLIP	23313552
MIRT154882	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT154889	hsa-miR-4280	PAR-CLIP	21572407
MIRT154900	hsa-miR-4768-3p	PAR-CLIP	21572407
MIRT154895	hsa-miR-4459	PAR-CLIP	21572407
MIRT154894	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT154876	hsa-miR-5196-3p	PAR-CLIP	21572407
MIRT154891	hsa-miR-3664-3p	PAR-CLIP	21572407
MIRT154885	hsa-miR-1299	PAR-CLIP	21572407
MIRT493776	hsa-miR-516b-5p	PAR-CLIP	21572407
MIRT493775	hsa-miR-4782-5p	PAR-CLIP	21572407
MIRT493774	hsa-miR-5706	PAR-CLIP	21572407
MIRT493761	hsa-miR-18a-5p	PAR-CLIP	23446348
MIRT493760	hsa-miR-18b-5p	PAR-CLIP	23446348
MIRT493759	hsa-miR-4735-3p	PAR-CLIP	23446348
MIRT493758	hsa-miR-888-3p	PAR-CLIP	23446348
MIRT493757	hsa-miR-219b-5p	PAR-CLIP	23446348
MIRT154882	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT493778	hsa-miR-6838-3p	PAR-CLIP	23592263
MIRT154889	hsa-miR-4280	PAR-CLIP	23592263
MIRT154900	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT154895	hsa-miR-4459	PAR-CLIP	23592263
MIRT154894	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT154876	hsa-miR-5196-3p	PAR-CLIP	23592263
MIRT154891	hsa-miR-3664-3p	PAR-CLIP	23592263
MIRT154884	hsa-miR-875-3p	PAR-CLIP	23592263
MIRT493777	hsa-miR-6128	PAR-CLIP	23592263
MIRT154897	hsa-miR-4540	PAR-CLIP	23592263
MIRT154885	hsa-miR-1299	PAR-CLIP	23592263
MIRT493776	hsa-miR-516b-5p	PAR-CLIP	23592263
MIRT493775	hsa-miR-4782-5p	PAR-CLIP	23592263
MIRT493774	hsa-miR-5706	PAR-CLIP	23592263
MIRT154898	hsa-miR-3978	PAR-CLIP	23592263
MIRT493773	hsa-miR-3129-5p	PAR-CLIP	23592263
MIRT493772	hsa-miR-199b-3p	PAR-CLIP	23592263
MIRT493771	hsa-miR-199a-3p	PAR-CLIP	23592263
MIRT493770	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT493769	hsa-miR-4274	PAR-CLIP	23592263
MIRT493768	hsa-miR-4519	PAR-CLIP	23592263
MIRT493767	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT493766	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT493765	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT493764	hsa-miR-6786-3p	PAR-CLIP	23592263
MIRT493763	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT493762	hsa-miR-3665	PAR-CLIP	23592263
MIRT154901	hsa-miR-6073	PAR-CLIP	23592263
MIRT493761	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT493760	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT493759	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT493758	hsa-miR-888-3p	PAR-CLIP	23592263
MIRT493757	hsa-miR-219b-5p	PAR-CLIP	23592263
MIRT1023616	hsa-miR-1262	CLIP-seq
MIRT1023617	hsa-miR-155	CLIP-seq
MIRT1023618	hsa-miR-2053	CLIP-seq
MIRT1023619	hsa-miR-2113	CLIP-seq
MIRT1023620	hsa-miR-218	CLIP-seq
MIRT1023621	hsa-miR-3153	CLIP-seq
MIRT1023622	hsa-miR-3157-3p	CLIP-seq
MIRT1023623	hsa-miR-3179	CLIP-seq
MIRT1023624	hsa-miR-3202	CLIP-seq
MIRT1023625	hsa-miR-338-5p	CLIP-seq
MIRT1023626	hsa-miR-34b	CLIP-seq
MIRT1023627	hsa-miR-3609	CLIP-seq
MIRT1023628	hsa-miR-4271	CLIP-seq
MIRT1023629	hsa-miR-4275	CLIP-seq
MIRT1023630	hsa-miR-4471	CLIP-seq
MIRT1023631	hsa-miR-4474-3p	CLIP-seq
MIRT1023632	hsa-miR-4668-5p	CLIP-seq
MIRT1023633	hsa-miR-4701-3p	CLIP-seq
MIRT1023634	hsa-miR-4720-3p	CLIP-seq
MIRT1023635	hsa-miR-4724-5p	CLIP-seq
MIRT1023636	hsa-miR-4725-3p	CLIP-seq
MIRT1023637	hsa-miR-4747-5p	CLIP-seq
MIRT1023638	hsa-miR-4766-5p	CLIP-seq
MIRT1023639	hsa-miR-4787-5p	CLIP-seq
MIRT1023640	hsa-miR-4804-3p	CLIP-seq
MIRT1023641	hsa-miR-541	CLIP-seq
MIRT1023642	hsa-miR-548ah	CLIP-seq
MIRT1023643	hsa-miR-569	CLIP-seq
MIRT1023644	hsa-miR-579	CLIP-seq
MIRT1023645	hsa-miR-625	CLIP-seq
MIRT1023646	hsa-miR-636	CLIP-seq
MIRT1023647	hsa-miR-654-5p	CLIP-seq
MIRT1023648	hsa-miR-663b	CLIP-seq
MIRT1023649	hsa-miR-1178	CLIP-seq
MIRT1023616	hsa-miR-1262	CLIP-seq
MIRT1023650	hsa-miR-1295	CLIP-seq
MIRT1023617	hsa-miR-155	CLIP-seq
MIRT1023618	hsa-miR-2053	CLIP-seq
MIRT1023619	hsa-miR-2113	CLIP-seq
MIRT1023651	hsa-miR-23a	CLIP-seq
MIRT1023652	hsa-miR-23b	CLIP-seq
MIRT1023653	hsa-miR-23c	CLIP-seq
MIRT1023654	hsa-miR-3137	CLIP-seq
MIRT1023621	hsa-miR-3153	CLIP-seq
MIRT1023622	hsa-miR-3157-3p	CLIP-seq
MIRT1023655	hsa-miR-3160-5p	CLIP-seq
MIRT1023623	hsa-miR-3179	CLIP-seq
MIRT1023624	hsa-miR-3202	CLIP-seq
MIRT1023625	hsa-miR-338-5p	CLIP-seq
MIRT1023626	hsa-miR-34b	CLIP-seq
MIRT1023627	hsa-miR-3609	CLIP-seq
MIRT1023656	hsa-miR-3686	CLIP-seq
MIRT1023657	hsa-miR-4263	CLIP-seq
MIRT1023628	hsa-miR-4271	CLIP-seq
MIRT1023629	hsa-miR-4275	CLIP-seq
MIRT1023630	hsa-miR-4471	CLIP-seq
MIRT1023631	hsa-miR-4474-3p	CLIP-seq
MIRT1023658	hsa-miR-4652-3p	CLIP-seq
MIRT1023632	hsa-miR-4668-5p	CLIP-seq
MIRT1023633	hsa-miR-4701-3p	CLIP-seq
MIRT1023635	hsa-miR-4724-5p	CLIP-seq
MIRT1023636	hsa-miR-4725-3p	CLIP-seq
MIRT1023637	hsa-miR-4747-5p	CLIP-seq
MIRT1023638	hsa-miR-4766-5p	CLIP-seq
MIRT1023659	hsa-miR-4775	CLIP-seq
MIRT1023639	hsa-miR-4787-5p	CLIP-seq
MIRT1023660	hsa-miR-4799-5p	CLIP-seq
MIRT1023661	hsa-miR-513a-3p	CLIP-seq
MIRT1023641	hsa-miR-541	CLIP-seq
MIRT1023642	hsa-miR-548ah	CLIP-seq
MIRT1023643	hsa-miR-569	CLIP-seq
MIRT1023662	hsa-miR-576-5p	CLIP-seq
MIRT1023644	hsa-miR-579	CLIP-seq
MIRT1023663	hsa-miR-590-3p	CLIP-seq
MIRT1023645	hsa-miR-625	CLIP-seq
MIRT1023647	hsa-miR-654-5p	CLIP-seq
MIRT1023648	hsa-miR-663b	CLIP-seq
MIRT1023616	hsa-miR-1262	CLIP-seq
MIRT1023618	hsa-miR-2053	CLIP-seq
MIRT1023629	hsa-miR-4275	CLIP-seq
MIRT1023633	hsa-miR-4701-3p	CLIP-seq
MIRT1023641	hsa-miR-541	CLIP-seq
MIRT1023643	hsa-miR-569	CLIP-seq
MIRT1023647	hsa-miR-654-5p	CLIP-seq
MIRT1023616	hsa-miR-1262	CLIP-seq
MIRT2003553	hsa-miR-1275	CLIP-seq
MIRT1023650	hsa-miR-1295	CLIP-seq
MIRT1023617	hsa-miR-155	CLIP-seq
MIRT1023618	hsa-miR-2053	CLIP-seq
MIRT1023619	hsa-miR-2113	CLIP-seq
MIRT1023620	hsa-miR-218	CLIP-seq
MIRT1023654	hsa-miR-3137	CLIP-seq
MIRT1023621	hsa-miR-3153	CLIP-seq
MIRT1023622	hsa-miR-3157-3p	CLIP-seq
MIRT1023655	hsa-miR-3160-5p	CLIP-seq
MIRT1023624	hsa-miR-3202	CLIP-seq
MIRT1023625	hsa-miR-338-5p	CLIP-seq
MIRT1023626	hsa-miR-34b	CLIP-seq
MIRT1023627	hsa-miR-3609	CLIP-seq
MIRT1023656	hsa-miR-3686	CLIP-seq
MIRT2003554	hsa-miR-4260	CLIP-seq
MIRT1023657	hsa-miR-4263	CLIP-seq
MIRT1023628	hsa-miR-4271	CLIP-seq
MIRT1023629	hsa-miR-4275	CLIP-seq
MIRT1023630	hsa-miR-4471	CLIP-seq
MIRT1023631	hsa-miR-4474-3p	CLIP-seq
MIRT1023658	hsa-miR-4652-3p	CLIP-seq
MIRT2003555	hsa-miR-4665-5p	CLIP-seq
MIRT1023633	hsa-miR-4701-3p	CLIP-seq
MIRT1023634	hsa-miR-4720-3p	CLIP-seq
MIRT1023635	hsa-miR-4724-5p	CLIP-seq
MIRT1023636	hsa-miR-4725-3p	CLIP-seq
MIRT1023637	hsa-miR-4747-5p	CLIP-seq
MIRT1023638	hsa-miR-4766-5p	CLIP-seq
MIRT1023639	hsa-miR-4787-5p	CLIP-seq
MIRT1023660	hsa-miR-4799-5p	CLIP-seq
MIRT1023640	hsa-miR-4804-3p	CLIP-seq
MIRT1023661	hsa-miR-513a-3p	CLIP-seq
MIRT1023641	hsa-miR-541	CLIP-seq
MIRT1023642	hsa-miR-548ah	CLIP-seq
MIRT1023643	hsa-miR-569	CLIP-seq
MIRT1023662	hsa-miR-576-5p	CLIP-seq
MIRT1023644	hsa-miR-579	CLIP-seq
MIRT1023645	hsa-miR-625	CLIP-seq
MIRT1023646	hsa-miR-636	CLIP-seq
MIRT1023647	hsa-miR-654-5p	CLIP-seq
MIRT1023648	hsa-miR-663b	CLIP-seq
MIRT1023617	hsa-miR-155	CLIP-seq
MIRT1023618	hsa-miR-2053	CLIP-seq
MIRT1023621	hsa-miR-3153	CLIP-seq
MIRT1023624	hsa-miR-3202	CLIP-seq
MIRT1023626	hsa-miR-34b	CLIP-seq
MIRT1023628	hsa-miR-4271	CLIP-seq
MIRT1023636	hsa-miR-4725-3p	CLIP-seq
MIRT1023637	hsa-miR-4747-5p	CLIP-seq
MIRT1023639	hsa-miR-4787-5p	CLIP-seq
MIRT1023643	hsa-miR-569	CLIP-seq
MIRT1023644	hsa-miR-579	CLIP-seq
MIRT1023645	hsa-miR-625	CLIP-seq
MIRT1023617	hsa-miR-155	CLIP-seq
MIRT2450438	hsa-miR-4428	CLIP-seq
MIRT2450439	hsa-miR-570	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
GATA1	Unknown	11418466
YY1	Unknown	18458536

Show/Hide all(46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IBA	21873635
GO:0001894	Process	Tissue homeostasis	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0005159	Function	Insulin-like growth factor receptor binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	12719376, 23353685
GO:0005525	Function	GTP binding	IEA
GO:0005829	Component	Cytosol	IDA	12719376
GO:0005829	Component	Cytosol	ISS
GO:0005834	Component	Heterotrimeric G-protein complex	IBA	21873635
GO:0006112	Process	Energy reserve metabolic process	IEA
GO:0006306	Process	DNA methylation	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	12719376
GO:0007191	Process	Adenylate cyclase-activating dopamine receptor signaling pathway	IBA	21873635
GO:0007606	Process	Sensory perception of chemical stimulus	IBA	21873635
GO:0010856	Function	Adenylate cyclase activator activity	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	12719376
GO:0016020	Component	Membrane	ISS
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA	21873635
GO:0031698	Function	Beta-2 adrenergic receptor binding	IBA	21873635
GO:0031748	Function	D1 dopamine receptor binding	IBA	21873635
GO:0031852	Function	Mu-type opioid receptor binding	IBA	21873635
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	IBA	21873635
GO:0035264	Process	Multicellular organism growth	IEA
GO:0040032	Process	Post-embryonic body morphogenesis	IEA
GO:0042493	Process	Response to drug	IEA
GO:0043588	Process	Skin development	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045672	Process	Positive regulation of osteoclast differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048589	Process	Developmental growth	IMP	12719376
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051430	Function	Corticotropin-releasing hormone receptor 1 binding	IBA	21873635
GO:0060348	Process	Bone development	IMP	12719376
GO:0070062	Component	Extracellular exosome	HDA	19199708, 20458337, 23533145
GO:0070527	Process	Platelet aggregation	IMP	12719376
GO:0071514	Process	Genetic imprinting	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	20374964
GO:2000828	Process	Regulation of parathyroid hormone secretion	IEA

MIM	HGNC	e!Ensembl
139320	4392	ENSG00000087460

Protein

UniProt ID

O95467

Protein name

Neuroendocrine secretory protein 55 (NESP55) [Cleaved into: LHAL tetrapeptide; GPIPIRRH peptide]

UniProt ID

P63092

Protein name

Guanine nucleotide-binding protein G(s) subunit alpha isoforms short (EC 3.6.5.-) (Adenylate cyclase-stimulating G alpha protein)

Protein function

Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:12391161, PubMed:17110384, PubMed:21488135, PubMed:26206488, PubMed:8702665, PubMed

PDB

5G53 , 5UZ7 , 5VAI , 6AU6 , 6B3J , 6E3Y , 6E67 , 6EG8 , 6GDG , 6LI3 , 6LMK , 6LPB , 6M1H , 6M1I , 6NI3 , 6NIY , 6ORV , 6P9X , 6P9Y , 6PB0 , 6PB1 , 6UUN , 6UUS , 6UVA , 6VCB , 6VN7 , 6WHC , 6WI9 , 6WPW , 6WZG , 6X18 , 6X19 , 6X1A , 6XOX , 7AUE , 7BB6 , 7BB7 , 7BPH , 7BW0 , 7BZ2 , 7C2E , 7CFM , 7CFN , 7CKW , 7CKX , 7CKY , 7CKZ , 7CRH , 7CX2 , 7CX3 , 7CX4

UniProt ID

P84996

Protein name

Protein ALEX (Alternative gene product encoded by XL-exon)

Protein function

May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame.

UniProt ID

Q5JWF2

Protein name

Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas (EC 3.6.5.-) (Adenylate cyclase-stimulating G alpha protein) (Extra large alphas protein) (XLalphas)

Protein function

Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). The alpha chain contains the guanine nucleotide binding site and alternates between an act

PDB

8I2G , 8JHB , 8JHI , 8WW2 , 9BKK , 9J1P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00503	G-alpha	663 → 1026	G-protein alpha subunit	Domain

Sequence

MGVRNCLYGNNMSGQRDIPPEIGEQPEQPPLEAPGAAAPGAGPSPAEEMETEPPHNEPIP
VENDGEACGPPEVSRPNFQVLNPAFREAGAHGSYSPPPEEAMPFEAEQPSLGGFWPTLEQ
PGFPSGVHAGLEAFGPALMEPGAFSGARPGLGGYSPPPEEAMPFEFDQPAQRGCSQLLLQ
VPDLAPGGPGAAGVPGAPPEEPQALRPAKAGSRGGYSPPPEETMPFELDGEGFGDDSPPP
GLSRVIAQVDGSSQFAAVAASSAVRLTPAANAPPLWVPGAIGSPSQEAVRPPSNFTGSSP
WMEISGPPFEIGSAPAGVDDTPVNMDSPPIALDGPPIKVSGAPDKRERAERPPVEEEAAE
MEGAADAAEGGKVPSPGYGSPAAGAASADTAARAAPAAPADPDSGATPEDPDSGTAPADP
DSGAFAADPDSGAAPAAPADPDSGAAPDAPADPDSGAAPDAPADPDAGAAPEAPAAPAAA
ETRAAHVAPAAPDAGAPTAPAASATRAAQVRRAASAAPASGARRKIHLRPPSPEIQAADP
PTPRPTRASAWRGKSESSRGRRVYYDEGVASSDDDSSGDESDDGTSGCLRWFQHRRNRRR
RKPQRNLLRNFLVQAFGGCFGRSESPQPKASRSLKVKKVPLAEKRRQMRKEALEKRAQKR
AEKKRSKLIDKQLQDEKMGYMCTHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEEDP
QAARSNSDGEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNV
PDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDL
LRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVI
REDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFAR
YTTPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFN
DCRDIIQRMHLRQYELL

Sequence length

1037

Interactions

View interactions

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