PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000558348	[[59664891, 59664978], [59694474, 59694557], [59750748, 59750845], [59752131, 59752405], [59784469, 59784501]]	[[59750825, 59750845], [59752131, 59752405], [59784469, 59784501]]
ENST00000560394	[[59665193, 59665290], [59694474, 59694557], [59750748, 59750845], [59752131, 59752405], [59784469, 59784574]]	[[59750825, 59750845], [59752131, 59752405], [59784469, 59784574]]
ENST00000288228	[[59730371, 59730481], [59750748, 59750845], [59752131, 59752405], [59784469, 59784588], [59799411, 59799541], [59801061, 59801168], [59806487, 59806623], [59808843, 59809039], [59813452, 59815748]]	[[59750825, 59750845], [59752131, 59752405], [59784469, 59784588], [59799411, 59799541], [59801061, 59801168], [59806487, 59806623], [59808843, 59809039], [59813452, 59813577]]
ENST00000560474	[[59730429, 59730481], [59750748, 59750816], [59752131, 59752405], [59784469, 59784588]]	[[59750769, 59750816], [59752131, 59752405], [59784469, 59784588]]
ENST00000560087	[[59730662, 59730829], [59750748, 59750816], [59752131, 59752405], [59784469, 59784527]]	[[59750769, 59750816], [59752131, 59752405], [59784469, 59784527]]
ENST00000560074	[[59730694, 59730829], [59750748, 59750845], [59752131, 59752405], [59784469, 59784520]]	[[59750825, 59750845], [59752131, 59752405], [59784469, 59784520]]
ENST00000561361	[[59737304, 59737461], [59750748, 59750845], [59752131, 59752405], [59784469, 59784522]]	[[59750825, 59750845], [59752131, 59752405], [59784469, 59784522]]
ENST00000559628	[[59730399, 59730481], [59731222, 59731263], [59732153, 59732322], [59750748, 59750845], [59752131, 59752314]]	[[59750825, 59750845], [59752131, 59752314]]
ENST00000558513	[[59730399, 59730481], [59750748, 59750845], [59752131, 59752839]]	None
ENST00000557914	[[59730403, 59730481], [59732153, 59732322], [59750748, 59750845], [59752131, 59752315]]	[[59750825, 59750845], [59752131, 59752315]]
ENST00000557895	[[59730443, 59730481], [59731222, 59731263], [59732153, 59732322], [59737362, 59737461], [59738763, 59738880]]	None
ENST00000560022	[[59730459, 59730481], [59731222, 59731263], [59732153, 59732322], [59737347, 59737461], [59738630, 59738664]]	None
ENST00000560118	[[59732152, 59732322], [59737407, 59737461], [59738630, 59738823]]	None
ENST00000558900	[[59732232, 59732322], [59737407, 59737767]]	None
ENST00000560123	[[59736188, 59736509], [59750748, 59750845], [59752131, 59752286]]	[[59750825, 59750845], [59752131, 59752286]]
NM_152450	[[59730371, 59730481], [59750748, 59750845], [59752131, 59752405], [59784469, 59784588], [59799411, 59799541], [59801061, 59801168], [59806487, 59806623], [59808843, 59809039], [59813452, 59815751]]	[[59750825, 59750845], [59752131, 59752405], [59784469, 59784588], [59799411, 59799541], [59801061, 59801168], [59806487, 59806623], [59808843, 59809039], [59813452, 59813577]]

Promoter

Chrom	Start	End	Description
chr15	59664884	59664903	CAGE_peak_4_at_FAM81A_5end
chr15	59665214	59665232	CAGE_peak_2_at_FAM81A_5end
chr15	59730298	59730309	CAGE_peak_5_at_FAM81A_5end
chr15	59730311	59730319	CAGE_peak_8_at_FAM81A_5end
chr15	59730330	59730341	CAGE_peak_3_at_FAM81A_5end
chr15	59730348	59730435	CAGE_peak_1_at_FAM81A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I059173	59173742	59178901	1.42	[{'connected_gene': 'LDHAL6B', 'score': 32.45}, {'connected_gene': 'FAM81A', 'score': 10.38}, {'connected_gene': 'MYO1E', 'score': 9.9}, {'connected_gene': 'RNF111', 'score': 3.39}, {'connected_gene': 'ADAM10', 'score': 1.81}, {'connected_gene': 'MIR2116', 'score': 0.44}, {'connected_gene': 'GC15M059055', 'score': 0.2}]
chr15	GH15I059185	59185939	59186290	0.37	[{'connected_gene': 'LDHAL6B', 'score': 12.76}, {'connected_gene': 'RNU4-80P', 'score': 11.35}, {'connected_gene': 'FAM81A', 'score': 10.21}, {'connected_gene': 'RNF111', 'score': 3.24}, {'connected_gene': 'ADAM10', 'score': 1.93}, {'connected_gene': 'SLTM', 'score': 1.16}, {'connected_gene': 'MIR2116', 'score': 0.39}, {'connected_gene': 'GC15M059055', 'score': 0.22}, {'connected_gene': 'MYO1E', 'score': 0.09}]
chr15	GH15I059190	59190422	59193275	1.02	[{'connected_gene': 'LDHAL6B', 'score': 22.11}, {'connected_gene': 'MIR2116', 'score': 11.03}, {'connected_gene': 'FAM81A', 'score': 10.91}, {'connected_gene': 'GC15M059055', 'score': 0.23}, {'connected_gene': 'MYO1E', 'score': 0.09}]
chr15	GH15I059379	59379867	59382074	0.49	[{'connected_gene': 'RNF111', 'score': 9.36}, {'connected_gene': 'MYO1E', 'score': 0.44}, {'connected_gene': 'FAM81A', 'score': 0.44}, {'connected_gene': 'LOC100421765', 'score': 0.34}]
chr15	GH15I059368	59368771	59374162	1.97	[{'connected_gene': 'MYO1E', 'score': 555.35}, {'connected_gene': 'FAM81A', 'score': 555.31}, {'connected_gene': 'RNF111', 'score': 9.31}, {'connected_gene': 'BNIP2', 'score': 4.35}, {'connected_gene': 'ENSG00000259735', 'score': 0.39}]
chr15	GH15I059384	59384622	59384771	0.31	[{'connected_gene': 'MYO1E', 'score': 0.39}, {'connected_gene': 'FAM81A', 'score': 0.39}, {'connected_gene': 'LOC100421765', 'score': 0.37}]
chr15	GH15I059270	59270779	59287092	1.62	[{'connected_gene': 'MYO1E', 'score': 15.98}, {'connected_gene': 'FAM81A', 'score': 10.85}, {'connected_gene': 'MIR2116', 'score': 10.12}, {'connected_gene': 'ENSG00000259250', 'score': 4.93}, {'connected_gene': 'GCNT3', 'score': 1.21}, {'connected_gene': 'GC15M059271', 'score': 0.44}, {'connected_gene': 'ENSG00000259771', 'score': 0.44}, {'connected_gene': 'GC15M059344', 'score': 0.21}]
chr15	GH15I059312	59312302	59312600	0.66	[{'connected_gene': 'MYO1E', 'score': 11.43}, {'connected_gene': 'FAM81A', 'score': 11.16}, {'connected_gene': 'MIR2116', 'score': 10.31}, {'connected_gene': 'GC15M059344', 'score': 0.31}, {'connected_gene': 'GC15M059271', 'score': 0.26}]
chr15	GH15I059315	59315536	59316562	0.79	[{'connected_gene': 'MYO1E', 'score': 11.44}, {'connected_gene': 'FAM81A', 'score': 11.17}, {'connected_gene': 'MIR2116', 'score': 10.31}, {'connected_gene': 'GC15M059344', 'score': 0.31}, {'connected_gene': 'GC15M059271', 'score': 0.26}]
chr15	GH15I059313	59313183	59315363	1.2	[{'connected_gene': 'MYO1E', 'score': 11.44}, {'connected_gene': 'FAM81A', 'score': 11.17}, {'connected_gene': 'MIR2116', 'score': 10.31}, {'connected_gene': 'GC15M059344', 'score': 0.31}, {'connected_gene': 'GC15M059271', 'score': 0.26}]
chr15	GH15I059421	59421362	59421511	0.46	[{'connected_gene': 'MYO1E', 'score': 11.24}, {'connected_gene': 'FAM81A', 'score': 8.65}, {'connected_gene': 'ENSG00000200252', 'score': 0.39}, {'connected_gene': 'GC15M059526', 'score': 0.15}]
chr15	GH15I059366	59366242	59367600	0.88	[{'connected_gene': 'MYO1E', 'score': 0.44}, {'connected_gene': 'ENSG00000259735', 'score': 0.44}, {'connected_gene': 'FAM81A', 'score': 0.44}]
chr15	GH15I059422	59421122	59421251	0.52	[{'connected_gene': 'MYO1E', 'score': 11.24}, {'connected_gene': 'ENSG00000200252', 'score': 0.39}, {'connected_gene': 'FAM81A', 'score': 0.25}, {'connected_gene': 'GC15M059526', 'score': 0.15}]
chr15	GH15I059394	59394814	59394967	0.34	[{'connected_gene': 'MYO1E', 'score': 11.5}, {'connected_gene': 'LOC100421765', 'score': 0.44}, {'connected_gene': 'FAM81A', 'score': 0.34}]
chr15	GH15I058510	58510068	58511655	0.66	[{'connected_gene': 'LIPC', 'score': 10.44}, {'connected_gene': 'FAM81A', 'score': 5.54}, {'connected_gene': 'ADAM10', 'score': 5.5}, {'connected_gene': 'LIPC-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000259476', 'score': 0.39}]
chr15	GH15I059437	59437800	59438601	1.8	[{'connected_gene': 'FAM81A', 'score': 550.2}, {'connected_gene': 'SLTM', 'score': 26.69}, {'connected_gene': 'PIGHP1', 'score': 18.27}, {'connected_gene': 'RNF111', 'score': 11.67}, {'connected_gene': 'BNIP2', 'score': 11.38}, {'connected_gene': 'ENSG00000200252', 'score': 0.31}, {'connected_gene': 'GC15M059526', 'score': 0.17}]
chr15	GH15I059374	59374197	59374412	0.46	[{'connected_gene': 'FAM81A', 'score': 555.01}, {'connected_gene': 'MYO1E', 'score': 550.77}, {'connected_gene': 'RNF111', 'score': 9.31}, {'connected_gene': 'LOC100421765', 'score': 0.31}]
chr15	GH15I059254	59254245	59258952	1.13	[{'connected_gene': 'FAM81A', 'score': 12.11}, {'connected_gene': 'MYO1E', 'score': 11.29}, {'connected_gene': 'RNU4-80P', 'score': 11.16}, {'connected_gene': 'MIR2116', 'score': 10.21}, {'connected_gene': 'GC15M059055', 'score': 0.39}, {'connected_gene': 'ENSG00000259771', 'score': 0.39}]
chr15	GH15I059409	59409950	59413644	1.33	[{'connected_gene': 'FAM81A', 'score': 14.82}, {'connected_gene': 'MYO1E', 'score': 12.55}, {'connected_gene': 'LOC100132644', 'score': 5.7}, {'connected_gene': 'ENSG00000200252', 'score': 0.77}, {'connected_gene': 'GC15M059526', 'score': 0.14}]
chr15	GH15I059492	59492801	59493399	0.95	[{'connected_gene': 'FAM81A', 'score': 26.16}, {'connected_gene': 'MIR2116', 'score': 10.75}, {'connected_gene': 'MYO1E', 'score': 10.61}, {'connected_gene': 'GC15M059526', 'score': 0.29}, {'connected_gene': 'ENSG00000200252', 'score': 0.18}]
chr15	GH15I059455	59455409	59457216	0.57	[{'connected_gene': 'FAM81A', 'score': 26.82}, {'connected_gene': 'ENSG00000200252', 'score': 0.25}, {'connected_gene': 'GC15M059526', 'score': 0.2}]
chr15	GH15I059457	59457222	59457371	0.38	[{'connected_gene': 'FAM81A', 'score': 26.8}, {'connected_gene': 'ENSG00000200252', 'score': 0.25}, {'connected_gene': 'GC15M059526', 'score': 0.2}]
chr15	GH15I059338	59338882	59340751	1.01	[{'connected_gene': 'RNU6-212P', 'score': 550.77}, {'connected_gene': 'GC15M059344', 'score': 550.77}, {'connected_gene': 'MYO1E', 'score': 11.29}, {'connected_gene': 'FAM81A', 'score': 11.02}, {'connected_gene': 'GC15M059271', 'score': 0.2}]
chr15	GH15I059388	59388762	59388911	0.59	[{'connected_gene': 'LOC100421765', 'score': 0.39}, {'connected_gene': 'MYO1E', 'score': 0.37}, {'connected_gene': 'FAM81A', 'score': 0.37}]
chr15	GH15I059398	59398391	59402000	0.98	[{'connected_gene': 'LOC100421765', 'score': 550.77}, {'connected_gene': 'MYO1E', 'score': 0.31}, {'connected_gene': 'FAM81A', 'score': 0.31}]
chr15	GH15I059516	59516348	59517819	0.58	[{'connected_gene': 'MIR2116', 'score': 10.82}, {'connected_gene': 'MYO1E', 'score': 10.2}, {'connected_gene': 'RNU4-80P', 'score': 10.15}, {'connected_gene': 'GTF2A2', 'score': 9.97}, {'connected_gene': 'FAM81A', 'score': 9.73}, {'connected_gene': 'GC15M059526', 'score': 0.44}, {'connected_gene': 'ENSG00000200252', 'score': 0.14}]
chr15	GH15I059406	59406001	59408400	0.99	[{'connected_gene': 'LOC100132644', 'score': 555.74}, {'connected_gene': 'GC15P059409', 'score': 550.77}, {'connected_gene': 'ENSG00000200252', 'score': 550.77}, {'connected_gene': 'MYO1E', 'score': 16.39}, {'connected_gene': 'FAM81A', 'score': 14.71}, {'connected_gene': 'LOC100421765', 'score': 0.44}]
chr15	GH15I059361	59361022	59361142	0.52	[{'connected_gene': 'ENSG00000259735', 'score': 550.77}, {'connected_gene': 'MYO1E', 'score': 0.39}, {'connected_gene': 'FAM81A', 'score': 0.39}]
chr15	GH15I059364	59364382	59364511	0.2	[{'connected_gene': 'ENSG00000259735', 'score': 0.77}, {'connected_gene': 'MYO1E', 'score': 0.44}, {'connected_gene': 'FAM81A', 'score': 0.44}]
chr15	GH15I059520	59520854	59522211	0.63	[{'connected_gene': 'GC15M059526', 'score': 0.77}, {'connected_gene': 'ENSG00000200252', 'score': 0.14}, {'connected_gene': 'FAM81A', 'score': 0.11}]
chr15	GH15I059482	59482802	59482951	0.76	[{'connected_gene': 'GC15M059526', 'score': 0.26}, {'connected_gene': 'ENSG00000200252', 'score': 0.19}, {'connected_gene': 'FAM81A', 'score': 0.14}]
chr15	GH15I059522	59522786	59525303	1.04	[{'connected_gene': 'GC15M059526', 'score': 550.77}, {'connected_gene': 'RPL21P114', 'score': 550.77}, {'connected_gene': 'BNIP2', 'score': 5.56}, {'connected_gene': 'ENSG00000200252', 'score': 0.13}, {'connected_gene': 'FAM81A', 'score': 0.1}]