SRCAP (Snf2 related CREBBP activator protein)

Gene

• Entrez ID: 10847
• Gene name: Snf2 related CREBBP activator protein
• Gene symbol: SRCAP
• Synonyms (NCBI Gene): DEHMBA, DOMO1, EAF1, FLHS, SWR1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 611421
• HGNC: 16974
• e!Ensembl: ENSG00000080603

Protein

• UniProt ID: 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

Pathways

KEGG:

ATP-dependent chromatin remodeling

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Developmental delay	Pathogenic	rs199469464	RCV004798746	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Floating-Harbor syndrome	Likely pathogenic; Pathogenic	rs143133981, rs2151300039, rs2151300137, rs587777656, rs2151300418, rs587784444, rs2506729448, rs2506727018, rs2506726338, rs2053169650, rs2506730506, rs2506627905, rs199469464, rs199469465, rs199469466, rs1085307899, rs587776938, rs1555465928, rs1555465942, rs1555465891, rs758972811, rs2506726269, rs748467821, rs2053169420	RCV002464465 RCV001776310 RCV006252384 RCV000133554 RCV002204553 RCV000147668 RCV002465438 RCV002790010 RCV003152891 RCV003447670 RCV005931341 RCV003883275 RCV000023895 RCV000023896 RCV000023897 RCV006249642 RCV000033112 RCV006250813 RCV005870683 RCV001775944 RCV000850607 RCV001270394 RCV005012721 RCV001293700	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Moderate intellectual disability	Likely pathogenic	rs1596667777	RCV001003609	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic short statue	Pathogenic	rs199469464	RCV005865193	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs199469464	RCV002273937	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs886041787, rs2151284583, rs2052800289, rs2151286256, rs2151287951, rs2151288511, rs2151288590, rs1232266542, rs755307689, rs2151293617, rs2151293907, rs2151294192, rs2151294378, rs2151294456, rs2151294574, rs2151294647, rs2151294652, rs748467821, rs2151296560, rs2151296564, rs2151298248, rs2151299623, rs2151299633, rs2053186315, rs2151301216, rs2053199279	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic intellectual disability	Likely pathogenic	rs2474004099	RCV001257008	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SRCAP-related disorder	Likely pathogenic; Pathogenic	rs2506677149, rs199469464, rs748467821	RCV003408307 RCV003407357 RCV004743383	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
46,XY disorder of sex development	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth failure in early childhood	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple congenital anomalies/dysmorphic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	BEFREE	29383823		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	34145229	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35152838	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38285876	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33517121	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital posterior urethral valves	Congenital Posterior Urethral Valves	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31491386		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33909990, 34145229, 35768521	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	31200758		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	22265015, 22965468, 23621943, 23708140, 23763483, 24970356, 25433523, 26788936		★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	31200758	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35768521	Associate	★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	33909990	Associate	★☆☆☆☆ Found in Text Mining only
Facial wart	Facial Wart	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Floating-harbor syndrome	Floating-Harbor Syndrome	GENOMICS_ENGLAND_DG	22265015		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Floating-harbor syndrome	Floating-Harbor Syndrome	BEFREE	22965468, 23621943, 24375913, 25176633, 25433523, 25451714, 27208210, 31200758, 31248274, 31491386, 31605816		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Floating-harbor syndrome	Floating-Harbor Syndrome	ORPHANET_DG	22965468		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Floating-Harbor syndrome	Floating-Harbor Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Floating-harbor syndrome	Floating-Harbor Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Floating-harbor syndrome	Floating-Harbor Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glioblastoma	Glioblastoma	Pubtator	26496030	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	31200758, 33909990	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	22965468		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperopic astigmatism	Hyperopic astigmatism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33909990	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Language Development Disorders	Language development disorders	Pubtator	33909990	Associate	★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	BEFREE	29383823		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33351131	Associate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20432434		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	35768521	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	22265015, 22965468, 23621943, 23708140, 23763483, 24970356, 25433523, 26788936		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	27363682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oral aversion	Oral aversion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Persistent pupillary membranes	Persistent Pupillary Membranes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20432434		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	20841388		★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	28167296		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	22265015	Associate	★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	22265015		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	25451714		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only