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	10847
Gene name	Snf2 related CREBBP activator protein
Gene symbol	SRCAP
Synonyms (NCBI Gene)	DEHMBADOMO1EAF1FLHSSWR1
Chromosome	16
Chromosome location	16p11.2
Summary	This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcripti

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35892240	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs138152469	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs141985098	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144476508	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144657822	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs146421389	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149628651	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs184337406	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant
rs199469464	C>T	Pathogenic	Stop gained, coding sequence variant
rs199469465	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs199469466	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs202139170	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587776938	->G	Pathogenic	Frameshift variant, coding sequence variant
rs587777656	C>T	Pathogenic	Stop gained, coding sequence variant
rs587784444	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs758972811	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs770648545	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs926127838	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1085307899	C>T	Pathogenic	Stop gained, coding sequence variant
rs1131691316	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1276291921	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1555465891	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555465917	GCTGGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555465928	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555465942	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555465966	C>A	Pathogenic	Stop gained, coding sequence variant
rs1596667741	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596667777	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1596669232	T>A	Pathogenic	Coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051910	hsa-let-7b-5p	CLASH	23622248
MIRT051752	hsa-let-7c-5p	CLASH	23622248
MIRT050747	hsa-miR-17-3p	CLASH	23622248
MIRT048104	hsa-miR-197-3p	CLASH	23622248
MIRT046182	hsa-miR-27b-3p	CLASH	23622248
MIRT044873	hsa-miR-194-5p	CLASH	23622248
MIRT044623	hsa-miR-320a	CLASH	23622248
MIRT041967	hsa-miR-484	CLASH	23622248
MIRT041967	hsa-miR-484	CLASH	23622248
MIRT040165	hsa-miR-615-3p	CLASH	23622248
MIRT040165	hsa-miR-615-3p	CLASH	23622248
MIRT040165	hsa-miR-615-3p	CLASH	23622248
MIRT038471	hsa-miR-296-3p	CLASH	23622248
MIRT038290	hsa-miR-130b-5p	CLASH	23622248
MIRT037418	hsa-miR-744-5p	CLASH	23622248
MIRT036817	hsa-miR-877-3p	CLASH	23622248
MIRT036303	hsa-miR-1229-3p	CLASH	23622248
MIRT044623	hsa-miR-320a	HITS-CLIP	23313552
MIRT704077	hsa-miR-320b	HITS-CLIP	23313552
MIRT704076	hsa-miR-320c	HITS-CLIP	23313552
MIRT704075	hsa-miR-320d	HITS-CLIP	23313552
MIRT704074	hsa-miR-4429	HITS-CLIP	23313552
MIRT704073	hsa-miR-6776-3p	HITS-CLIP	23313552
MIRT704072	hsa-miR-320e	HITS-CLIP	23313552
MIRT704071	hsa-miR-4436b-3p	HITS-CLIP	23313552
MIRT704070	hsa-miR-4632-5p	HITS-CLIP	23313552
MIRT704069	hsa-miR-6735-5p	HITS-CLIP	23313552
MIRT704068	hsa-miR-6879-5p	HITS-CLIP	23313552
MIRT704067	hsa-miR-7843-5p	HITS-CLIP	23313552
MIRT704066	hsa-miR-3616-3p	HITS-CLIP	23313552
MIRT704065	hsa-miR-2467-3p	HITS-CLIP	23313552
MIRT704064	hsa-miR-3135b	HITS-CLIP	23313552
MIRT704063	hsa-miR-1249-5p	HITS-CLIP	23313552
MIRT704062	hsa-miR-6797-5p	HITS-CLIP	23313552
MIRT704061	hsa-miR-9-3p	HITS-CLIP	23313552
MIRT704059	hsa-miR-6515-5p	HITS-CLIP	23313552
MIRT704060	hsa-miR-2113	HITS-CLIP	23313552
MIRT678755	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT678754	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT678753	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT678752	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT678751	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT678750	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT678749	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT678748	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT678747	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT678746	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT678745	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT678744	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT678743	hsa-miR-302e	HITS-CLIP	23824327
MIRT678742	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT678741	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT678740	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT678739	hsa-miR-520b	HITS-CLIP	23824327
MIRT678738	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT678737	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT678736	hsa-miR-520e	HITS-CLIP	23824327
MIRT678735	hsa-miR-1245a	HITS-CLIP	23824327
MIRT678734	hsa-miR-8079	HITS-CLIP	23824327
MIRT678733	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT678732	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT678731	hsa-miR-520h	HITS-CLIP	23824327
MIRT678730	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT678729	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT678728	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT678727	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT678726	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT678725	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT678724	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678723	hsa-miR-1913	HITS-CLIP	23824327
MIRT678722	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT678721	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT678720	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT678719	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT678718	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT678717	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT658826	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT658827	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT658832	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT658831	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT658829	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT658828	hsa-miR-623	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT658833	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT658832	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT658831	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT658830	hsa-miR-4645-3p	HITS-CLIP	23824327
MIRT658829	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT658828	hsa-miR-623	HITS-CLIP	23824327
MIRT658827	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT658826	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT658825	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT658824	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT658823	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT642123	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT642122	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT642121	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT642120	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT642119	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT642118	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT642117	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT642116	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT642115	hsa-miR-3671	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT498925	hsa-miR-4311	PAR-CLIP	24398324
MIRT498923	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT498924	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT498922	hsa-miR-4259	PAR-CLIP	24398324
MIRT498921	hsa-miR-3150b-3p	PAR-CLIP	24398324
MIRT498920	hsa-miR-4784	PAR-CLIP	24398324
MIRT498919	hsa-miR-3188	PAR-CLIP	24398324
MIRT498918	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT498917	hsa-miR-4306	PAR-CLIP	24398324
MIRT498916	hsa-miR-4644	PAR-CLIP	24398324
MIRT498915	hsa-miR-765	PAR-CLIP	24398324
MIRT498914	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT498913	hsa-miR-3175	PAR-CLIP	24398324
MIRT498912	hsa-miR-1343-5p	PAR-CLIP	24398324
MIRT498911	hsa-miR-939-5p	PAR-CLIP	24398324
MIRT498910	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT498908	hsa-miR-2110	PAR-CLIP	24398324
MIRT498909	hsa-miR-6810-5p	PAR-CLIP	24398324
MIRT498907	hsa-miR-3150a-3p	PAR-CLIP	24398324
MIRT498906	hsa-miR-6763-5p	PAR-CLIP	24398324
MIRT498905	hsa-miR-6857-5p	PAR-CLIP	24398324
MIRT498904	hsa-miR-450a-2-3p	PAR-CLIP	24398324
MIRT044623	hsa-miR-320a	HITS-CLIP	23313552
MIRT704077	hsa-miR-320b	HITS-CLIP	23313552
MIRT704076	hsa-miR-320c	HITS-CLIP	23313552
MIRT704075	hsa-miR-320d	HITS-CLIP	23313552
MIRT704074	hsa-miR-4429	HITS-CLIP	23313552
MIRT704073	hsa-miR-6776-3p	HITS-CLIP	23313552
MIRT704072	hsa-miR-320e	HITS-CLIP	23313552
MIRT704071	hsa-miR-4436b-3p	HITS-CLIP	23313552
MIRT704070	hsa-miR-4632-5p	HITS-CLIP	23313552
MIRT704069	hsa-miR-6735-5p	HITS-CLIP	23313552
MIRT704068	hsa-miR-6879-5p	HITS-CLIP	23313552
MIRT704067	hsa-miR-7843-5p	HITS-CLIP	23313552
MIRT704066	hsa-miR-3616-3p	HITS-CLIP	23313552
MIRT704065	hsa-miR-2467-3p	HITS-CLIP	23313552
MIRT704064	hsa-miR-3135b	HITS-CLIP	23313552
MIRT704063	hsa-miR-1249-5p	HITS-CLIP	23313552
MIRT704062	hsa-miR-6797-5p	HITS-CLIP	23313552
MIRT704061	hsa-miR-9-3p	HITS-CLIP	23313552
MIRT704059	hsa-miR-6515-5p	HITS-CLIP	23313552
MIRT704060	hsa-miR-2113	HITS-CLIP	23313552
MIRT678755	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT678754	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT678753	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT678752	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT678751	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT678750	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT678749	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT678748	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT678747	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT678746	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT678745	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT678744	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT678743	hsa-miR-302e	HITS-CLIP	23824327
MIRT678742	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT678741	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT678740	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT678739	hsa-miR-520b	HITS-CLIP	23824327
MIRT678738	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT678737	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT678736	hsa-miR-520e	HITS-CLIP	23824327
MIRT678735	hsa-miR-1245a	HITS-CLIP	23824327
MIRT678734	hsa-miR-8079	HITS-CLIP	23824327
MIRT678733	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT678732	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT678731	hsa-miR-520h	HITS-CLIP	23824327
MIRT678730	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT678729	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT678728	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT678727	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT678726	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT678725	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT678724	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678723	hsa-miR-1913	HITS-CLIP	23824327
MIRT678722	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT678721	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT678720	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT678719	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT678718	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT678717	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT658826	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT658827	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT658832	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT658831	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT658829	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT658828	hsa-miR-623	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT658833	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT658832	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT658831	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT658830	hsa-miR-4645-3p	HITS-CLIP	23824327
MIRT658829	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT658828	hsa-miR-623	HITS-CLIP	23824327
MIRT658827	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT658826	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT658825	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT658824	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT658823	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT642123	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT642122	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT642121	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT642120	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT642119	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT642118	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT642117	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT642116	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT642115	hsa-miR-3671	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT613130	hsa-miR-8485	HITS-CLIP	23824327
MIRT613129	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613128	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613127	hsa-miR-603	HITS-CLIP	23824327
MIRT613126	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT613125	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT613124	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT613123	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT613122	hsa-miR-3941	HITS-CLIP	23824327
MIRT613121	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT613120	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT498925	hsa-miR-4311	PAR-CLIP	24398324
MIRT498923	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT498924	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT498922	hsa-miR-4259	PAR-CLIP	24398324
MIRT498921	hsa-miR-3150b-3p	PAR-CLIP	24398324
MIRT498920	hsa-miR-4784	PAR-CLIP	24398324
MIRT498919	hsa-miR-3188	PAR-CLIP	24398324
MIRT498918	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT498917	hsa-miR-4306	PAR-CLIP	24398324
MIRT498916	hsa-miR-4644	PAR-CLIP	24398324
MIRT498915	hsa-miR-765	PAR-CLIP	24398324
MIRT498914	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT498913	hsa-miR-3175	PAR-CLIP	24398324
MIRT498912	hsa-miR-1343-5p	PAR-CLIP	24398324
MIRT498911	hsa-miR-939-5p	PAR-CLIP	24398324
MIRT498910	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT498908	hsa-miR-2110	PAR-CLIP	24398324
MIRT498909	hsa-miR-6810-5p	PAR-CLIP	24398324
MIRT498907	hsa-miR-3150a-3p	PAR-CLIP	24398324
MIRT498906	hsa-miR-6763-5p	PAR-CLIP	24398324
MIRT498905	hsa-miR-6857-5p	PAR-CLIP	24398324
MIRT498904	hsa-miR-450a-2-3p	PAR-CLIP	24398324
MIRT1387697	hsa-miR-1207-3p	CLIP-seq
MIRT1387698	hsa-miR-1297	CLIP-seq
MIRT1387699	hsa-miR-140-5p	CLIP-seq
MIRT1387700	hsa-miR-26a	CLIP-seq
MIRT1387701	hsa-miR-26b	CLIP-seq
MIRT1387702	hsa-miR-3144-5p	CLIP-seq
MIRT1387703	hsa-miR-3185	CLIP-seq
MIRT1387704	hsa-miR-3191	CLIP-seq
MIRT1387705	hsa-miR-3545-5p	CLIP-seq
MIRT1387706	hsa-miR-3612	CLIP-seq
MIRT1387707	hsa-miR-3679-3p	CLIP-seq
MIRT1387708	hsa-miR-4254	CLIP-seq
MIRT1387709	hsa-miR-4271	CLIP-seq
MIRT1387710	hsa-miR-4443	CLIP-seq
MIRT1387711	hsa-miR-4460	CLIP-seq
MIRT1387712	hsa-miR-4465	CLIP-seq
MIRT1387713	hsa-miR-4640-3p	CLIP-seq
MIRT1387714	hsa-miR-4651	CLIP-seq
MIRT1387715	hsa-miR-4652-5p	CLIP-seq
MIRT1387716	hsa-miR-4667-5p	CLIP-seq
MIRT1387717	hsa-miR-4700-5p	CLIP-seq
MIRT1387718	hsa-miR-4725-3p	CLIP-seq
MIRT1387719	hsa-miR-4731-5p	CLIP-seq
MIRT1387720	hsa-miR-4747-5p	CLIP-seq
MIRT1387721	hsa-miR-491-5p	CLIP-seq
MIRT1387722	hsa-miR-541	CLIP-seq
MIRT1387723	hsa-miR-608	CLIP-seq
MIRT1387724	hsa-miR-624	CLIP-seq
MIRT1387725	hsa-miR-650	CLIP-seq
MIRT1387726	hsa-miR-654-5p	CLIP-seq
MIRT1387727	hsa-miR-9	CLIP-seq
MIRT2116142	hsa-miR-3179	CLIP-seq
MIRT2116143	hsa-miR-3199	CLIP-seq
MIRT2116144	hsa-miR-3202	CLIP-seq
MIRT2116145	hsa-miR-342-5p	CLIP-seq
MIRT2116146	hsa-miR-3682-3p	CLIP-seq
MIRT1387709	hsa-miR-4271	CLIP-seq
MIRT1387714	hsa-miR-4651	CLIP-seq
MIRT1387715	hsa-miR-4652-5p	CLIP-seq
MIRT2116147	hsa-miR-4664-5p	CLIP-seq
MIRT1387718	hsa-miR-4725-3p	CLIP-seq
MIRT1387720	hsa-miR-4747-5p	CLIP-seq
MIRT1387723	hsa-miR-608	CLIP-seq
MIRT2116148	hsa-miR-654-3p	CLIP-seq
MIRT1387697	hsa-miR-1207-3p	CLIP-seq
MIRT1387698	hsa-miR-1297	CLIP-seq
MIRT1387699	hsa-miR-140-5p	CLIP-seq
MIRT2338554	hsa-miR-141	CLIP-seq
MIRT2338555	hsa-miR-200a	CLIP-seq
MIRT1387700	hsa-miR-26a	CLIP-seq
MIRT1387701	hsa-miR-26b	CLIP-seq
MIRT2338556	hsa-miR-3064-3p	CLIP-seq
MIRT1387702	hsa-miR-3144-5p	CLIP-seq
MIRT2116142	hsa-miR-3179	CLIP-seq
MIRT1387704	hsa-miR-3191	CLIP-seq
MIRT2116145	hsa-miR-342-5p	CLIP-seq
MIRT1387705	hsa-miR-3545-5p	CLIP-seq
MIRT1387706	hsa-miR-3612	CLIP-seq
MIRT1387707	hsa-miR-3679-3p	CLIP-seq
MIRT1387708	hsa-miR-4254	CLIP-seq
MIRT1387709	hsa-miR-4271	CLIP-seq
MIRT2338557	hsa-miR-4287	CLIP-seq
MIRT2338558	hsa-miR-4292	CLIP-seq
MIRT2338559	hsa-miR-4308	CLIP-seq
MIRT1387710	hsa-miR-4443	CLIP-seq
MIRT1387711	hsa-miR-4460	CLIP-seq
MIRT1387712	hsa-miR-4465	CLIP-seq
MIRT2338560	hsa-miR-4469	CLIP-seq
MIRT1387714	hsa-miR-4651	CLIP-seq
MIRT1387715	hsa-miR-4652-5p	CLIP-seq
MIRT2116147	hsa-miR-4664-5p	CLIP-seq
MIRT1387716	hsa-miR-4667-5p	CLIP-seq
MIRT2338561	hsa-miR-4685-3p	CLIP-seq
MIRT2338562	hsa-miR-4691-3p	CLIP-seq
MIRT1387717	hsa-miR-4700-5p	CLIP-seq
MIRT2338563	hsa-miR-4715-3p	CLIP-seq
MIRT1387718	hsa-miR-4725-3p	CLIP-seq
MIRT1387719	hsa-miR-4731-5p	CLIP-seq
MIRT1387721	hsa-miR-491-5p	CLIP-seq
MIRT1387723	hsa-miR-608	CLIP-seq
MIRT1387724	hsa-miR-624	CLIP-seq
MIRT1387725	hsa-miR-650	CLIP-seq
MIRT2116148	hsa-miR-654-3p	CLIP-seq
MIRT1387720	hsa-miR-4747-5p	CLIP-seq
MIRT2338554	hsa-miR-141	CLIP-seq
MIRT2338555	hsa-miR-200a	CLIP-seq
MIRT2338556	hsa-miR-3064-3p	CLIP-seq
MIRT2116142	hsa-miR-3179	CLIP-seq
MIRT2116143	hsa-miR-3199	CLIP-seq
MIRT2116144	hsa-miR-3202	CLIP-seq
MIRT1387709	hsa-miR-4271	CLIP-seq
MIRT1387715	hsa-miR-4652-5p	CLIP-seq
MIRT2632127	hsa-miR-4679	CLIP-seq
MIRT2338562	hsa-miR-4691-3p	CLIP-seq
MIRT2338563	hsa-miR-4715-3p	CLIP-seq
MIRT1387718	hsa-miR-4725-3p	CLIP-seq
MIRT1387720	hsa-miR-4747-5p	CLIP-seq
MIRT2338554	hsa-miR-141	CLIP-seq
MIRT2338555	hsa-miR-200a	CLIP-seq
MIRT2338556	hsa-miR-3064-3p	CLIP-seq
MIRT2116142	hsa-miR-3179	CLIP-seq
MIRT2116143	hsa-miR-3199	CLIP-seq
MIRT2116144	hsa-miR-3202	CLIP-seq
MIRT2116145	hsa-miR-342-5p	CLIP-seq
MIRT1387709	hsa-miR-4271	CLIP-seq
MIRT1387714	hsa-miR-4651	CLIP-seq
MIRT1387715	hsa-miR-4652-5p	CLIP-seq
MIRT2116147	hsa-miR-4664-5p	CLIP-seq
MIRT2632127	hsa-miR-4679	CLIP-seq
MIRT2338562	hsa-miR-4691-3p	CLIP-seq
MIRT2338563	hsa-miR-4715-3p	CLIP-seq
MIRT1387718	hsa-miR-4725-3p	CLIP-seq
MIRT1387720	hsa-miR-4747-5p	CLIP-seq
MIRT1387723	hsa-miR-608	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000786	Component	Nucleosome	NAS	16634648
GO:0000812	Component	Swr1 complex	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	TAS	10347196
GO:0004386	Function	Helicase activity	IEA
GO:0004402	Function	Histone acetyltransferase activity	TAS	10347196
GO:0005515	Function	Protein binding	IPI	10702287, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	10702287
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	NAS	16634648
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	16634648
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	10347196
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0032991	Component	Protein-containing complex	IDA	14966270
GO:0032991	Component	Protein-containing complex	IEA
GO:0042393	Function	Histone binding	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10702287
GO:0140096	Function	Catalytic activity, acting on a protein	IEA

MIM	HGNC	e!Ensembl
611421	16974	ENSG00000080603

Q6ZRS2

Protein name

Helicase SRCAP (EC 3.6.4.-) (Domino homolog 2) (Snf2-related CBP activator)

Protein function

Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CRE

PDB

6IGM , 8X15 , 8X19 , 8X1C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07529	HSA	127 → 196	HSA	Domain
PF00176	SNF2_N	626 → 907	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	2043 → 2156	Helicase conserved C-terminal domain	Family

Sequence

MQSSPSPAHPQLPVLQTQMVSDGMTGSNPVSPASSSSPASSGAGGISPQHIAQDSSLDGP
PGPPDGATVPLEGFSLSQAADLANKGPKWEKSHAEIAEQAKHEAEIETRIAELRKEGFWS
LKRLPKVPEPPRPKGHWDYLCEEMQWLSADFAQERRWKRGVARKVVRMVIRHHEEQRQKE
ERARREEQAKLRRIASTMAKDVRQFWSNVEKVVQFKQQSRLEEKRKKALDLHLDFIVGQT
EKYSDLLSQSLNQPLTSSKAGSSPCLGSSSAASSPPPPASRLDDEDGDFQPQEDEEEDDE
ETIEVEEQQEGNDAEAQRREIELLRREGELPLEELLRSLPPQLLEGPSSPSQTPSSHDSD
TRDGPEEGAEEEPPQVLEIKPPPSAVTQRNKQPWHPDEDDEEFTANEEEAEDEEDTIAAE
EQLEGEVDHAMELSELAREGELSMEELLQQYAGAYAPGSGSSEDEDEDEVDANSSDCEPE
GPVEAEEPPQEDSSSQSDSVEDRSEDEEDEHSEEEETSGSSASEESESEESEDAQSQSQA
DEEEEDDDFGVEYLLARDEEQSEADAGSGPPTPGPTTLGPKKEITDIAAAAESLQPKGYT
LATTQVKTPIPLLLRGQLREYQHIGLDWLVTMYEKKLNGILADEMGLGKTIQTISLLAHL
ACEKGNWGPHLIIVPTSVMLNWEMELKRWCPSFKILTYYGAQKERKLKRQGWTKPNAFHV
CITSYKLVLQDHQAFRRKNWRYLILDEAQNIKNFKSQRWQSLLNFNSQRRLLLTGTPLQN
SLMELWSLMHFLMPHVFQSHREFKEWFSNPLTGMIEGSQEYNEGLVKRLHKVLRPFLLRR
VKVDVEKQMPKKYEHVIRCRLSKRQRCLYDDFMAQTTTKETLATGHFMSVINILMQLRKV
CNHPNLFDPRPVTSPFITPGICFSTASLVLRATDVHPLQRIDMGRFDLIGLEGRVSRYEA
DTFLPRHRLSRRVLLEVATAPDPPPRPKPVKMKVNRMLQPVPKQEGRTVVVVNNPRAPLG
PVPVRPPPGPELSAQPTPGPVPQVLPASLMVSASPAGPPLIPASRPPGPVLLPPLQPNSG
SLPQVLPSPLGVLSGTSRPPTPTLSLKPTPPAPVRLSPAPPPGSSSLLKPLTVPPGYTFP
PAAATTTSTTTATATTTAVPAPTPAPQRLILSPDMQARLPSGEVVSIGQLASLAQRPVAN
AGGSKPLTFQIQGNKLTLTGAQVRQLAVGQPRPLQRNVVHLVSAGGQHHLISQPAHVALI
QAVAPTPGPTPVSVLPSSTPSTTPAPTGLSLPLAANQVPPTMVNNTGVVKIVVRQAPRDG
LTPVPPLAPAPRPPSSGLPAVLNPRPTLTPGRLPTPTLGTARAPMPTPTLVRPLLKLVHS
PSPEVSASAPGAAPLTISSPLHVPSSLPGPASSPMPIPNSSPLASPVSSTVSVPLSSSLP
ISVPTTLPAPASAPLTIPISAPLTVSASGPALLTSVTPPLAPVVPAAPGPPSLAPSGASP
SASALTLGLATAPSLSSSQTPGHPLLLAPTSSHVPGLNSTVAPACSPVLVPASALASPFP
SAPNPAPAQASLLAPASSASQALATPLAPMAAPQTAILAPSPAPPLAPLPVLAPSPGAAP
VLASSQTPVPVMAPSSTPGTSLASASPVPAPTPVLAPSSTQTMLPAPVPSPLPSPASTQT
LALAPALAPTLGGSSPSQTLSLGTGNPQGPFPTQTLSLTPASSLVPTPAQTLSLAPGPPL
GPTQTLSLAPAPPLAPASPVGPAPAHTLTLAPASSSASLLAPASVQTLTLSPAPVPTLGP
AAAQTLALAPASTQSPASQASSLVVSASGAAPLPVTMVSRLPVSKDEPDTLTLRSGPPSP
PSTATSFGGPRPRRQPPPPPRSPFYLDSLEEKRKRQRSERLERIFQLSEAHGALAPVYGT
EVLDFCTLPQPVASPIGPRSPGPSHPTFWTYTEAAHRAVLFPQQRLDQLSEIIERFIFVM
PPVEAPPPSLHACHPPPWLAPRQAAFQEQLASELWPRARPLHRIVCNMRTQFPDLRLIQY
DCGKLQTLAVLLRQLKAEGHRVLIFTQMTRMLDVLEQFLTYHGHLYLRLDGSTRVEQRQA
LMERFNADKRIFCFILSTRSGGVGVNLTGADTVVFYDSDWNPTMDAQAQDRCHRIGQTRD
VHIYRLISERTVEENILKKANQKRMLGDMAIEGGNFTTAYFKQQTIRELFDMPLEEPSSS
SVPSAPEEEEETVASKQTHILEQALCRAEDEEDIRAATQAKAEQVAELAEFNENDGFPAG
EGEEAGRPGAEDEEMSRAEQEIAALVEQLTPIERYAMKFLEASLEEVSREELKQAEEQVE
AARKDLDQAKEEVFRLPQEEEEGPGAGDESSCGTGGGTHRRSKKAKAPERPGTRVSERLR
GARAETQGANHTPVISAHQTRSTTTPPRCSPARERVPRPAPRPRPTPASAPAAIPALVPV
PVSAPVPISAPNPITILPVHILPSPPPPSQIPPCSSPACTPPPACTPPPAHTPPPAQTCL
VTPSSPLLLGPPSVPISASVTNLPLGLRPEAELCAQALASPESLELASVASSETSSLSLV
PPKDLLPVAVEILPVSEKNLSLTPSAPSLTLEAGSIPNGQEQEAPDSAEGTTLTVLPEGE
ELPLCVSESNGLELPPSAASDEPLQEPLEADRTSEELTEAKTPTSSPEKPQELVTAEVAA
PSTSSSATSSPEGPSPARPPRRRTSADVEIRGQGTGRPGQPPGPKVLRKLPGRLVTVVEE
KELVRRRRQQRGAASTLVPGVSETSASPGSPSVRSMSGPESSPPIGGPCEAAPSSSLPTP
PQQPFIARRHIELGVTGGGSPENGDGALLAITPPAVKRRRGRPPKKNRSPADAGRGVDEA
PSSTLKGKTNGADPVPGPETLIVADPVLEPQLIPGPQPLGPQPVHRPNPLLSPVEKRRRG
RPPKARDLPIPGTISSAGDGNSESRTQPPPHPSPLTPLPPLLVCPTATVANTVTTVTIST
SPPKRKRGRPPKNPPSPRPSQLPVLDRDSTSVLESCGLGRRRQPQGQGESEGSSSDEDGS
RPLTRLARLRLEAEGMRGRKSGGSMVVAVIQDDLDLADSGPGGLELTPPVVSLTPKLRST
RLRPGSLVPPLETEKLPRKRAGAPVGGSPGLAKRGRLQPPSPLGPEGSVEESEAEASGEE
EEGDGTPRRRPGPRRLVGTTNQGDQRILRSSAPPSLAGPAVSHRGRKAKT

Sequence length

3230

Interactions

View interactions

	KEGG
	ATP-dependent chromatin remodeling

777

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental delay	Pathogenic	rs199469464	RCV004798746
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Likely pathogenic; Pathogenic	rs2151289213, rs2053094101, rs2151300418, rs2506669408, rs2506697053, rs2151293443, rs2506728534, rs2506730506, rs2506627905, rs2506624513, rs199469464, rs2151287951, rs748467821, rs2151296560	RCV001808023 RCV001837172 RCV002204553 RCV002466763 RCV002776546 RCV003447818 RCV003596255 RCV005931341 RCV003883275 RCV004566408 RCV003988823 RCV001776171 RCV002468631 RCV001776172
Floating-Harbor syndrome	Likely pathogenic; Pathogenic	rs143133981, rs2151300039, rs2151300137, rs587777656, rs2151300418, rs587784444, rs2506729448, rs2506727018, rs2506726338, rs2053169650, rs2506730506, rs2506627905, rs199469464, rs199469465, rs199469466 View all (9 more)	RCV002464465 RCV001776310 RCV006252384 RCV000133554 RCV002204553 RCV000147668 RCV002465438 RCV002790010 RCV003152891 RCV003447670 RCV005931341 RCV003883275 RCV000023895 RCV000023896 RCV000023897 RCV006249642 RCV000033112 RCV006250813 RCV005870683 RCV001775944 RCV000850607 RCV001270394 RCV005012721 RCV001293700
Moderate intellectual disability	Likely pathogenic	rs1596667777	RCV001003609
Monogenic short statue	Pathogenic	rs199469464	RCV005865193
Neurodevelopmental delay	Pathogenic	rs199469464	RCV002273937
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs886041787, rs2151284583, rs2052800289, rs2151286256, rs2151287951, rs2151288511, rs2151288590, rs1232266542, rs755307689, rs2151293617, rs2151293907, rs2151294192, rs2151294378, rs2151294456, rs2151294574 View all (11 more)	RCV001391086 RCV001391073 RCV001391090 RCV001391092 RCV001391069 RCV001391070 RCV001391082 RCV001391079 RCV001391085 RCV001391068 RCV001391093 RCV001391077 RCV001391087 RCV001391076 RCV001391089 RCV001391083 RCV001391088 RCV001391081 RCV001391084 RCV001391072 RCV001391071 RCV001391091 RCV001391080 RCV001391094 RCV001391095 RCV001391096
Rare genetic intellectual disability	Likely pathogenic	rs2474004099	RCV001257008
See cases	Pathogenic	rs199469464	RCV001420319
SRCAP-related disorder	Likely pathogenic; Pathogenic	rs2506677149, rs199469464, rs748467821	RCV003408307 RCV003407357 RCV004743383

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
46,XY disorder of sex development	Uncertain significance	rs765139685	RCV003126296
Acute myeloid leukemia	Benign; Likely benign	rs75991082	RCV005894447
Autism spectrum disorder	Conflicting classifications of pathogenicity; Uncertain significance	rs1170509653, rs1449633458	RCV003125947 RCV003127344
Cervical cancer	Benign	rs34062097	RCV005905902
Clear cell carcinoma of kidney	Likely benign; Benign	rs149090781, rs138541811	RCV005930586 RCV005895765
Colon adenocarcinoma	Benign	rs34062097	RCV005905901
Developmental disorder	Likely benign	rs2151293426	RCV001843744
Familial cancer of breast	Benign; Likely benign	rs10153105, rs189024516	RCV005921971 RCV005926310
Gastric cancer	Benign; Likely benign	rs201156311	RCV005928082
Growth failure in early childhood	Uncertain significance	rs758723663	RCV006437182
Hepatocellular carcinoma	Benign; Likely benign	rs149628651	RCV005888240
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	rs749939097, rs755651719	RCV005626838 RCV001252109
Lung cancer	Benign	rs34062097	RCV005905903
Malignant tumor of esophagus	Benign; Likely benign	rs75991082, rs752652939	RCV005894448 RCV005907515
Melanoma	Benign; Likely benign; Uncertain significance	rs149628651, rs150504436	RCV005888243 RCV005934739
Microcephaly	Uncertain significance	rs2053035618, rs1025371777	RCV001252902 RCV001252760
Multiple congenital anomalies/dysmorphic syndrome	Conflicting classifications of pathogenicity	rs765874179	RCV005626692
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs149628651	RCV005888242
Papillary renal cell carcinoma type 1	Likely benign	rs368322185	RCV005931646
Sarcoma	Benign; Likely benign	rs149628651	RCV005888241
Uterine carcinosarcoma	Benign	rs769499061	RCV005925964
Uterine corpus endometrial carcinoma	Likely benign	rs772955745	RCV005934990

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bipolar Disorder	Associate	34145229
Breast Neoplasms	Associate	35152838
Carcinoma Hepatocellular	Associate	38285876
Cardiomyopathy Dilated	Associate	33517121
Developmental Disabilities	Associate	33909990, 34145229, 35768521
Ear Diseases	Associate	31200758
Epilepsy	Associate	35768521
Facial Dysmorphism with Multiple Malformations	Associate	33909990
Failure to Thrive	Associate	35768521
Floating harbor syndrome	Associate	22265015, 23621943, 25176633, 25433523, 27934915, 31200758, 33099107, 33517121, 33909990, 35768521
Glioblastoma	Associate	26496030
Growth Disorders	Associate	31200758, 33909990
Intellectual Disability	Associate	33909990
Language Development Disorders	Associate	33909990
Leukemia Myeloid Acute	Associate	33351131
Mental Disorders	Associate	33909990
Mood Disorders	Associate	35768521
Muscle Hypotonia	Associate	33909990
Musculoskeletal Diseases	Associate	33909990
Neoplasm Metastasis	Associate	35152838
Neoplasms	Stimulate	38285876
Rett Syndrome	Associate	22265015
Rubinstein Taybi Syndrome	Associate	22265015

SRCAP (Snf2 related CREBBP activator protein)