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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51319
Gene name	Arginine and serine rich coiled-coil 1
Gene symbol	RSRC1
Synonyms (NCBI Gene)	BM-011MRT70SFRS21SRrp53
Chromosome	3
Chromosome location	3q25.32
Summary	This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on

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SNP ID	Visualize variation	Clinical significance	Consequence
rs868818936	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1183090232	C>G,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant

313

Show/Hide all (313)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024693	hsa-miR-215-5p	Microarray	19074876
MIRT026535	hsa-miR-192-5p	Microarray	19074876
MIRT049910	hsa-miR-30a-3p	CLASH	23622248
MIRT690501	hsa-miR-548ac	HITS-CLIP	23313552
MIRT690500	hsa-miR-548bb-3p	HITS-CLIP	23313552
MIRT690499	hsa-miR-548d-3p	HITS-CLIP	23313552
MIRT690498	hsa-miR-548h-3p	HITS-CLIP	23313552
MIRT690497	hsa-miR-548z	HITS-CLIP	23313552
MIRT690496	hsa-miR-548ae-3p	HITS-CLIP	23313552
MIRT690495	hsa-miR-548ah-3p	HITS-CLIP	23313552
MIRT690494	hsa-miR-548aj-3p	HITS-CLIP	23313552
MIRT690493	hsa-miR-548am-3p	HITS-CLIP	23313552
MIRT690492	hsa-miR-548aq-3p	HITS-CLIP	23313552
MIRT690491	hsa-miR-548j-3p	HITS-CLIP	23313552
MIRT690490	hsa-miR-548x-3p	HITS-CLIP	23313552
MIRT690489	hsa-miR-3662	HITS-CLIP	23313552
MIRT690488	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT690487	hsa-miR-224-3p	HITS-CLIP	23313552
MIRT690486	hsa-miR-522-3p	HITS-CLIP	23313552
MIRT690485	hsa-miR-3675-3p	HITS-CLIP	23313552
MIRT690484	hsa-miR-4794	HITS-CLIP	23313552
MIRT690483	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT690482	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT617675	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT617674	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT617673	hsa-miR-4530	HITS-CLIP	23824327
MIRT617672	hsa-miR-338-3p	HITS-CLIP	23824327
MIRT617671	hsa-miR-1292-3p	HITS-CLIP	23824327
MIRT617670	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT617669	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT617668	hsa-miR-4252	HITS-CLIP	23824327
MIRT617667	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT617666	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT617665	hsa-miR-5698	HITS-CLIP	23824327
MIRT617664	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT617663	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT617662	hsa-miR-4525	HITS-CLIP	23824327
MIRT617661	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT617660	hsa-miR-7703	HITS-CLIP	23824327
MIRT617659	hsa-miR-1275	HITS-CLIP	23824327
MIRT617658	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT508511	hsa-miR-490-3p	PAR-CLIP	20371350
MIRT508510	hsa-miR-7851-3p	PAR-CLIP	20371350
MIRT508509	hsa-miR-3929	PAR-CLIP	20371350
MIRT508508	hsa-miR-4419b	PAR-CLIP	20371350
MIRT508507	hsa-miR-4478	PAR-CLIP	20371350
MIRT508506	hsa-miR-4649-3p	PAR-CLIP	20371350
MIRT508505	hsa-miR-1827	PAR-CLIP	20371350
MIRT508504	hsa-miR-485-5p	PAR-CLIP	20371350
MIRT508503	hsa-miR-6884-5p	PAR-CLIP	20371350
MIRT508502	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT508501	hsa-miR-31-5p	PAR-CLIP	20371350
MIRT508500	hsa-miR-665	PAR-CLIP	20371350
MIRT508509	hsa-miR-3929	PAR-CLIP	20371350
MIRT508508	hsa-miR-4419b	PAR-CLIP	20371350
MIRT508507	hsa-miR-4478	PAR-CLIP	20371350
MIRT508506	hsa-miR-4649-3p	PAR-CLIP	20371350
MIRT508505	hsa-miR-1827	PAR-CLIP	20371350
MIRT508504	hsa-miR-485-5p	PAR-CLIP	20371350
MIRT508503	hsa-miR-6884-5p	PAR-CLIP	20371350
MIRT508502	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT508501	hsa-miR-31-5p	PAR-CLIP	20371350
MIRT508500	hsa-miR-665	PAR-CLIP	20371350
MIRT508511	hsa-miR-490-3p	PAR-CLIP	21572407
MIRT508510	hsa-miR-7851-3p	PAR-CLIP	21572407
MIRT508509	hsa-miR-3929	PAR-CLIP	21572407
MIRT508508	hsa-miR-4419b	PAR-CLIP	21572407
MIRT508507	hsa-miR-4478	PAR-CLIP	21572407
MIRT508506	hsa-miR-4649-3p	PAR-CLIP	21572407
MIRT508505	hsa-miR-1827	PAR-CLIP	21572407
MIRT508504	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT508503	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT508502	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT508501	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT508500	hsa-miR-665	PAR-CLIP	21572407
MIRT550054	hsa-miR-513b-3p	PAR-CLIP	21572407
MIRT550053	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT550052	hsa-miR-6834-3p	PAR-CLIP	21572407
MIRT550051	hsa-miR-4709-5p	PAR-CLIP	21572407
MIRT550050	hsa-miR-4756-3p	PAR-CLIP	21572407
MIRT550049	hsa-miR-1250-3p	PAR-CLIP	21572407
MIRT550048	hsa-miR-4433a-5p	PAR-CLIP	21572407
MIRT550047	hsa-miR-7159-5p	PAR-CLIP	21572407
MIRT550046	hsa-miR-505-3p	PAR-CLIP	21572407
MIRT550045	hsa-miR-421	PAR-CLIP	21572407
MIRT550044	hsa-miR-5696	PAR-CLIP	21572407
MIRT550043	hsa-miR-579-3p	PAR-CLIP	21572407
MIRT550042	hsa-miR-664b-3p	PAR-CLIP	21572407
MIRT550041	hsa-miR-4433b-5p	PAR-CLIP	21572407
MIRT550040	hsa-miR-1305	PAR-CLIP	21572407
MIRT550039	hsa-miR-335-3p	PAR-CLIP	21572407
MIRT508511	hsa-miR-490-3p	PAR-CLIP	21572407
MIRT508510	hsa-miR-7851-3p	PAR-CLIP	21572407
MIRT508509	hsa-miR-3929	PAR-CLIP	21572407
MIRT508508	hsa-miR-4419b	PAR-CLIP	21572407
MIRT508507	hsa-miR-4478	PAR-CLIP	21572407
MIRT508506	hsa-miR-4649-3p	PAR-CLIP	21572407
MIRT508505	hsa-miR-1827	PAR-CLIP	21572407
MIRT508504	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT508503	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT508502	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT508501	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT508500	hsa-miR-665	PAR-CLIP	21572407
MIRT508511	hsa-miR-490-3p	PAR-CLIP	23446348
MIRT508510	hsa-miR-7851-3p	PAR-CLIP	23446348
MIRT508509	hsa-miR-3929	PAR-CLIP	23446348
MIRT508508	hsa-miR-4419b	PAR-CLIP	23446348
MIRT508507	hsa-miR-4478	PAR-CLIP	23446348
MIRT508506	hsa-miR-4649-3p	PAR-CLIP	23446348
MIRT508505	hsa-miR-1827	PAR-CLIP	23446348
MIRT508504	hsa-miR-485-5p	PAR-CLIP	23446348
MIRT508503	hsa-miR-6884-5p	PAR-CLIP	23446348
MIRT508502	hsa-miR-7160-5p	PAR-CLIP	23446348
MIRT508501	hsa-miR-31-5p	PAR-CLIP	23446348
MIRT508500	hsa-miR-665	PAR-CLIP	23446348
MIRT508511	hsa-miR-490-3p	PAR-CLIP	23446348
MIRT508510	hsa-miR-7851-3p	PAR-CLIP	23446348
MIRT508509	hsa-miR-3929	PAR-CLIP	23446348
MIRT508508	hsa-miR-4419b	PAR-CLIP	23446348
MIRT508507	hsa-miR-4478	PAR-CLIP	23446348
MIRT508506	hsa-miR-4649-3p	PAR-CLIP	23446348
MIRT508505	hsa-miR-1827	PAR-CLIP	23446348
MIRT508504	hsa-miR-485-5p	PAR-CLIP	23446348
MIRT508503	hsa-miR-6884-5p	PAR-CLIP	23446348
MIRT508502	hsa-miR-7160-5p	PAR-CLIP	23446348
MIRT508501	hsa-miR-31-5p	PAR-CLIP	23446348
MIRT508500	hsa-miR-665	PAR-CLIP	23446348
MIRT690501	hsa-miR-548ac	HITS-CLIP	23313552
MIRT690500	hsa-miR-548bb-3p	HITS-CLIP	23313552
MIRT690499	hsa-miR-548d-3p	HITS-CLIP	23313552
MIRT690498	hsa-miR-548h-3p	HITS-CLIP	23313552
MIRT690497	hsa-miR-548z	HITS-CLIP	23313552
MIRT690496	hsa-miR-548ae-3p	HITS-CLIP	23313552
MIRT690495	hsa-miR-548ah-3p	HITS-CLIP	23313552
MIRT690494	hsa-miR-548aj-3p	HITS-CLIP	23313552
MIRT690493	hsa-miR-548am-3p	HITS-CLIP	23313552
MIRT690492	hsa-miR-548aq-3p	HITS-CLIP	23313552
MIRT690491	hsa-miR-548j-3p	HITS-CLIP	23313552
MIRT690490	hsa-miR-548x-3p	HITS-CLIP	23313552
MIRT690489	hsa-miR-3662	HITS-CLIP	23313552
MIRT690488	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT690487	hsa-miR-224-3p	HITS-CLIP	23313552
MIRT690486	hsa-miR-522-3p	HITS-CLIP	23313552
MIRT690485	hsa-miR-3675-3p	HITS-CLIP	23313552
MIRT690484	hsa-miR-4794	HITS-CLIP	23313552
MIRT690483	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT690482	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT617675	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT617674	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT617673	hsa-miR-4530	HITS-CLIP	23824327
MIRT617672	hsa-miR-338-3p	HITS-CLIP	23824327
MIRT617671	hsa-miR-1292-3p	HITS-CLIP	23824327
MIRT617670	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT617669	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT617668	hsa-miR-4252	HITS-CLIP	23824327
MIRT617667	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT617666	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT617665	hsa-miR-5698	HITS-CLIP	23824327
MIRT617664	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT617663	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT617662	hsa-miR-4525	HITS-CLIP	23824327
MIRT617661	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT617660	hsa-miR-7703	HITS-CLIP	23824327
MIRT617659	hsa-miR-1275	HITS-CLIP	23824327
MIRT617658	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT508511	hsa-miR-490-3p	PAR-CLIP	20371350
MIRT508510	hsa-miR-7851-3p	PAR-CLIP	20371350
MIRT508509	hsa-miR-3929	PAR-CLIP	20371350
MIRT508508	hsa-miR-4419b	PAR-CLIP	20371350
MIRT508507	hsa-miR-4478	PAR-CLIP	20371350
MIRT508506	hsa-miR-4649-3p	PAR-CLIP	20371350
MIRT508505	hsa-miR-1827	PAR-CLIP	20371350
MIRT508504	hsa-miR-485-5p	PAR-CLIP	20371350
MIRT508503	hsa-miR-6884-5p	PAR-CLIP	20371350
MIRT508502	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT508501	hsa-miR-31-5p	PAR-CLIP	20371350
MIRT508500	hsa-miR-665	PAR-CLIP	20371350
MIRT508509	hsa-miR-3929	PAR-CLIP	20371350
MIRT508508	hsa-miR-4419b	PAR-CLIP	20371350
MIRT508507	hsa-miR-4478	PAR-CLIP	20371350
MIRT508506	hsa-miR-4649-3p	PAR-CLIP	20371350
MIRT508505	hsa-miR-1827	PAR-CLIP	20371350
MIRT508504	hsa-miR-485-5p	PAR-CLIP	20371350
MIRT508503	hsa-miR-6884-5p	PAR-CLIP	20371350
MIRT508502	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT508501	hsa-miR-31-5p	PAR-CLIP	20371350
MIRT508500	hsa-miR-665	PAR-CLIP	20371350
MIRT508511	hsa-miR-490-3p	PAR-CLIP	21572407
MIRT508510	hsa-miR-7851-3p	PAR-CLIP	21572407
MIRT508509	hsa-miR-3929	PAR-CLIP	21572407
MIRT508508	hsa-miR-4419b	PAR-CLIP	21572407
MIRT508507	hsa-miR-4478	PAR-CLIP	21572407
MIRT508506	hsa-miR-4649-3p	PAR-CLIP	21572407
MIRT508505	hsa-miR-1827	PAR-CLIP	21572407
MIRT508504	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT508503	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT508502	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT508501	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT508500	hsa-miR-665	PAR-CLIP	21572407
MIRT550054	hsa-miR-513b-3p	PAR-CLIP	21572407
MIRT550053	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT550052	hsa-miR-6834-3p	PAR-CLIP	21572407
MIRT550051	hsa-miR-4709-5p	PAR-CLIP	21572407
MIRT550050	hsa-miR-4756-3p	PAR-CLIP	21572407
MIRT550049	hsa-miR-1250-3p	PAR-CLIP	21572407
MIRT550048	hsa-miR-4433a-5p	PAR-CLIP	21572407
MIRT550047	hsa-miR-7159-5p	PAR-CLIP	21572407
MIRT550046	hsa-miR-505-3p	PAR-CLIP	21572407
MIRT550045	hsa-miR-421	PAR-CLIP	21572407
MIRT550044	hsa-miR-5696	PAR-CLIP	21572407
MIRT550043	hsa-miR-579-3p	PAR-CLIP	21572407
MIRT550042	hsa-miR-664b-3p	PAR-CLIP	21572407
MIRT550041	hsa-miR-4433b-5p	PAR-CLIP	21572407
MIRT550040	hsa-miR-1305	PAR-CLIP	21572407
MIRT550039	hsa-miR-335-3p	PAR-CLIP	21572407
MIRT508511	hsa-miR-490-3p	PAR-CLIP	21572407
MIRT508510	hsa-miR-7851-3p	PAR-CLIP	21572407
MIRT508509	hsa-miR-3929	PAR-CLIP	21572407
MIRT508508	hsa-miR-4419b	PAR-CLIP	21572407
MIRT508507	hsa-miR-4478	PAR-CLIP	21572407
MIRT508506	hsa-miR-4649-3p	PAR-CLIP	21572407
MIRT508505	hsa-miR-1827	PAR-CLIP	21572407
MIRT508504	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT508503	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT508502	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT508501	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT508500	hsa-miR-665	PAR-CLIP	21572407
MIRT508511	hsa-miR-490-3p	PAR-CLIP	23446348
MIRT508510	hsa-miR-7851-3p	PAR-CLIP	23446348
MIRT508509	hsa-miR-3929	PAR-CLIP	23446348
MIRT508508	hsa-miR-4419b	PAR-CLIP	23446348
MIRT508507	hsa-miR-4478	PAR-CLIP	23446348
MIRT508506	hsa-miR-4649-3p	PAR-CLIP	23446348
MIRT508505	hsa-miR-1827	PAR-CLIP	23446348
MIRT508504	hsa-miR-485-5p	PAR-CLIP	23446348
MIRT508503	hsa-miR-6884-5p	PAR-CLIP	23446348
MIRT508502	hsa-miR-7160-5p	PAR-CLIP	23446348
MIRT508501	hsa-miR-31-5p	PAR-CLIP	23446348
MIRT508500	hsa-miR-665	PAR-CLIP	23446348
MIRT508511	hsa-miR-490-3p	PAR-CLIP	23446348
MIRT508510	hsa-miR-7851-3p	PAR-CLIP	23446348
MIRT508509	hsa-miR-3929	PAR-CLIP	23446348
MIRT508508	hsa-miR-4419b	PAR-CLIP	23446348
MIRT508507	hsa-miR-4478	PAR-CLIP	23446348
MIRT508506	hsa-miR-4649-3p	PAR-CLIP	23446348
MIRT508505	hsa-miR-1827	PAR-CLIP	23446348
MIRT508504	hsa-miR-485-5p	PAR-CLIP	23446348
MIRT508503	hsa-miR-6884-5p	PAR-CLIP	23446348
MIRT508502	hsa-miR-7160-5p	PAR-CLIP	23446348
MIRT508501	hsa-miR-31-5p	PAR-CLIP	23446348
MIRT508500	hsa-miR-665	PAR-CLIP	23446348
MIRT1321462	hsa-miR-132	CLIP-seq
MIRT1321463	hsa-miR-144	CLIP-seq
MIRT1321464	hsa-miR-212	CLIP-seq
MIRT1321465	hsa-miR-219-2-3p	CLIP-seq
MIRT1321466	hsa-miR-25	CLIP-seq
MIRT1321467	hsa-miR-2964a-3p	CLIP-seq
MIRT1321468	hsa-miR-3143	CLIP-seq
MIRT1321469	hsa-miR-32	CLIP-seq
MIRT1321470	hsa-miR-3618	CLIP-seq
MIRT1321471	hsa-miR-363	CLIP-seq
MIRT1321472	hsa-miR-3646	CLIP-seq
MIRT1321473	hsa-miR-3658	CLIP-seq
MIRT1321474	hsa-miR-367	CLIP-seq
MIRT1321475	hsa-miR-3671	CLIP-seq
MIRT1321476	hsa-miR-4272	CLIP-seq
MIRT1321477	hsa-miR-4282	CLIP-seq
MIRT1321478	hsa-miR-4307	CLIP-seq
MIRT1321479	hsa-miR-4325	CLIP-seq
MIRT1321480	hsa-miR-4477a	CLIP-seq
MIRT1321481	hsa-miR-450b-5p	CLIP-seq
MIRT1321482	hsa-miR-4704-5p	CLIP-seq
MIRT1321483	hsa-miR-4712-3p	CLIP-seq
MIRT1321484	hsa-miR-4760-3p	CLIP-seq
MIRT1321485	hsa-miR-495	CLIP-seq
MIRT1321486	hsa-miR-498	CLIP-seq
MIRT1321487	hsa-miR-499a-5p	CLIP-seq
MIRT1321488	hsa-miR-543	CLIP-seq
MIRT1321489	hsa-miR-545	CLIP-seq
MIRT1321490	hsa-miR-548c-3p	CLIP-seq
MIRT1321491	hsa-miR-548p	CLIP-seq
MIRT1321492	hsa-miR-550a	CLIP-seq
MIRT1321493	hsa-miR-579	CLIP-seq
MIRT1321494	hsa-miR-607	CLIP-seq
MIRT1321495	hsa-miR-664	CLIP-seq
MIRT1321496	hsa-miR-92a	CLIP-seq
MIRT1321497	hsa-miR-92b	CLIP-seq
MIRT1321498	hsa-miR-934	CLIP-seq
MIRT1321462	hsa-miR-132	CLIP-seq
MIRT1321463	hsa-miR-144	CLIP-seq
MIRT2095441	hsa-miR-2116	CLIP-seq
MIRT1321464	hsa-miR-212	CLIP-seq
MIRT1321468	hsa-miR-3143	CLIP-seq
MIRT1321472	hsa-miR-3646	CLIP-seq
MIRT1321478	hsa-miR-4307	CLIP-seq
MIRT1321480	hsa-miR-4477a	CLIP-seq
MIRT2095442	hsa-miR-4677-5p	CLIP-seq
MIRT1321488	hsa-miR-543	CLIP-seq
MIRT2095443	hsa-miR-587	CLIP-seq
MIRT1321495	hsa-miR-664	CLIP-seq
MIRT1321462	hsa-miR-132	CLIP-seq
MIRT1321464	hsa-miR-212	CLIP-seq
MIRT1321470	hsa-miR-3618	CLIP-seq
MIRT1321478	hsa-miR-4307	CLIP-seq
MIRT1321480	hsa-miR-4477a	CLIP-seq
MIRT1321493	hsa-miR-579	CLIP-seq
MIRT1321495	hsa-miR-664	CLIP-seq
MIRT1321498	hsa-miR-934	CLIP-seq
MIRT2458667	hsa-miR-4698	CLIP-seq
MIRT2458668	hsa-miR-4711-3p	CLIP-seq
MIRT2458669	hsa-miR-511	CLIP-seq
MIRT2458670	hsa-miR-592	CLIP-seq
MIRT2458671	hsa-miR-599	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IBA
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IEA
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	15798186
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0005515	Function	Protein binding	IPI	15798186, 23455924, 23602568, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006397	Process	MRNA processing	IEA
GO:0006913	Process	Nucleocytoplasmic transport	IEA
GO:0006913	Process	Nucleocytoplasmic transport	ISS
GO:0008380	Process	RNA splicing	IDA	15798186
GO:0008380	Process	RNA splicing	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0016607	Component	Nuclear speck	ISS
GO:0046677	Process	Response to antibiotic	IEA

MIM	HGNC	e!Ensembl
613352	24152	ENSG00000174891

Q96IZ7

Protein name

Serine/Arginine-related protein 53 (SRrp53) (Arginine/serine-rich coiled-coil protein 1)

Protein function

Has a role in alternative splicing and transcription regulation (PubMed:29522154). Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3' splice site during the second step of splicing. {ECO

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in brain, spinal cord, cerebellum. {ECO:0000269|PubMed:29522154}.

Sequence

MGRRSSDTEEESRSKRKKKHRRRSSSSSSSDSRTYSRKKGGRKSRSKSRSWSRDLQPRSH
SYDRRRRHRSSSSSSYGSRRKRSRSRSRGRGKSYRVQRSRSKSRTRRSRSRPRLRSHSRS
SERSSHRRTRSRSRDRERRKGRDKEKREKEKDKGKDKELHNIKRGESGNIKAGLEHLPPA
EQAKARLQLVLEAAAKADEALKAKERNEEEAKRRKEEDQATLVEQVKRVKEIEAIESDSF
VQQTFRSSKEVKKSVEPSEVKQATSTSGPASAVADPPSTEKEIDPTSIPTAIKYQDDNSL
AHPNLFIEKADAEEKWFKRLIALRQERLMGSPVA

Sequence length

334

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual developmental disorder, autosomal recessive 70	Pathogenic; Likely pathogenic	rs2108279740, rs754550509, rs1335486803, rs2473655748, rs1183090232, rs868818936, rs746219497, rs1727334508	RCV001836660 RCV001836661 RCV001836662 RCV003988705 RCV000768423 RCV000768424 RCV005626379 RCV005626380	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RSRC1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Nasopharyngeal Carcinoma	Associate	24214394	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	31257492	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Associate	28545128	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurologic Manifestations	Associate	31257492	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Inhibit	31257492	★★★★★ ★☆☆☆☆ Found in Text Mining only

RSRC1 (arginine and serine rich coiled-coil 1)