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
ENST00000216294	[[62229074, 62229306], [62233593, 62233753], [62233929, 62234070], [62235353, 62235458], [62242812, 62242971], [62244789, 62244858], [62245565, 62245628], [62248964, 62249115], [62259524, 62259620], [62261666, 62263146]]	[[62229178, 62229306], [62233593, 62233753], [62233929, 62234070], [62235353, 62235458], [62242812, 62242971], [62244789, 62244858], [62245565, 62245628], [62248964, 62249115], [62259524, 62259620], [62261666, 62261701]]
NM_003082	[[62229074, 62229306], [62233593, 62233753], [62233929, 62234070], [62235353, 62235458], [62242812, 62242971], [62244789, 62244858], [62245565, 62245628], [62248964, 62249115], [62259524, 62259620], [62261666, 62263146]]	[[62229178, 62229306], [62233593, 62233753], [62233929, 62234070], [62235353, 62235458], [62242812, 62242971], [62244789, 62244858], [62245565, 62245628], [62248964, 62249115], [62259524, 62259620], [62261666, 62261701]]

Promoter

Chrom	Start	End	Description
chr14	62229047	62229058	CAGE_peak_3_at_SNAPC1_5end
chr14	62229088	62229118	CAGE_peak_2_at_SNAPC1_5end
chr14	62229124	62229145	CAGE_peak_1_at_SNAPC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I061812	61812400	61812801	0.82	[{'connected_gene': 'SYT16', 'score': 550.77}, {'connected_gene': 'SNAPC1', 'score': 9.7}, {'connected_gene': 'COX4I1P1', 'score': 0.37}, {'connected_gene': 'GC14P061748', 'score': 0.21}]
chr14	GH14I061925	61925234	61928879	0.63	[{'connected_gene': 'SNAPC1', 'score': 4.83}, {'connected_gene': 'GC14P061915', 'score': 0.39}, {'connected_gene': 'GC14M061941', 'score': 0.15}, {'connected_gene': 'SYT16', 'score': 0.13}]
chr14	GH14I061934	61934023	61935449	0.38	[{'connected_gene': 'SNAPC1', 'score': 4.89}, {'connected_gene': 'GC14P061915', 'score': 0.37}, {'connected_gene': 'GC14M061941', 'score': 0.16}, {'connected_gene': 'SYT16', 'score': 0.13}]
chr14	GH14I061437	61437092	61440658	1.33	[{'connected_gene': 'SNAPC1', 'score': 10.49}, {'connected_gene': 'GC14M061347', 'score': 0.26}, {'connected_gene': 'ENSG00000247287', 'score': 0.13}, {'connected_gene': 'PRKCH', 'score': 0.07}]
chr14	GH14I061432	61432484	61434443	0.92	[{'connected_gene': 'SNAPC1', 'score': 10.48}, {'connected_gene': 'GC14M061347', 'score': 0.25}, {'connected_gene': 'ENSG00000247287', 'score': 0.14}, {'connected_gene': 'PRKCH', 'score': 0.07}]
chr14	GH14I061441	61441109	61441655	0.4	[{'connected_gene': 'SNAPC1', 'score': 10.49}, {'connected_gene': 'GC14M061347', 'score': 0.26}, {'connected_gene': 'ENSG00000247287', 'score': 0.13}, {'connected_gene': 'PRKCH', 'score': 0.07}]
chr14	GH14I061443	61443155	61447147	1.15	[{'connected_gene': 'SNAPC1', 'score': 10.49}, {'connected_gene': 'GC14M061347', 'score': 0.28}, {'connected_gene': 'ENSG00000247287', 'score': 0.13}, {'connected_gene': 'PRKCH', 'score': 0.07}]
chr14	GH14I061434	61434766	61436409	0.49	[{'connected_gene': 'SNAPC1', 'score': 10.48}, {'connected_gene': 'GC14M061347', 'score': 0.25}, {'connected_gene': 'ENSG00000247287', 'score': 0.14}, {'connected_gene': 'PRKCH', 'score': 0.07}]
chr14	GH14I061442	61442324	61442792	0.2	[{'connected_gene': 'SNAPC1', 'score': 10.49}, {'connected_gene': 'GC14M061347', 'score': 0.26}, {'connected_gene': 'ENSG00000247287', 'score': 0.13}, {'connected_gene': 'PRKCH', 'score': 0.07}]
chr14	GH14I061736	61736135	61737758	0.52	[{'connected_gene': 'SNAPC1', 'score': 11.44}, {'connected_gene': 'FLJ22447', 'score': 7.11}, {'connected_gene': 'ENSG00000258964', 'score': 0.77}, {'connected_gene': 'GC14P061745', 'score': 0.44}, {'connected_gene': 'HIF1A-AS2', 'score': 0.39}, {'connected_gene': 'LOC105370526', 'score': 0.39}, {'connected_gene': 'HIF1A', 'score': 0.26}]
chr14	GH14I061860	61860403	61860552	0.56	[{'connected_gene': 'SNAPC1', 'score': 4.66}, {'connected_gene': 'MOCS3P1', 'score': 0.77}, {'connected_gene': 'COX4I1P1', 'score': 0.31}, {'connected_gene': 'SYT16', 'score': 0.25}]
chr14	GH14I061737	61737901	61739863	0.43	[{'connected_gene': 'SNAPC1', 'score': 11.47}, {'connected_gene': 'HIF1A', 'score': 11.41}, {'connected_gene': 'FLJ22447', 'score': 5.49}, {'connected_gene': 'ENSG00000258964', 'score': 0.77}, {'connected_gene': 'GC14P061745', 'score': 0.44}, {'connected_gene': 'HIF1A-AS2', 'score': 0.39}, {'connected_gene': 'LOC105370526', 'score': 0.39}]
chr14	GH14I061837	61837703	61837872	0.75	[{'connected_gene': 'SNAPC1', 'score': 10.7}, {'connected_gene': 'LINC01303', 'score': 10.41}, {'connected_gene': 'FLJ22447', 'score': 10.41}, {'connected_gene': 'COX4I1P1', 'score': 0.44}, {'connected_gene': 'MOCS3P1', 'score': 0.31}, {'connected_gene': 'SYT16', 'score': 0.31}]
chr14	GH14I061839	61839703	61839852	0.31	[{'connected_gene': 'SNAPC1', 'score': 10.7}, {'connected_gene': 'LINC01303', 'score': 10.41}, {'connected_gene': 'FLJ22447', 'score': 10.41}, {'connected_gene': 'COX4I1P1', 'score': 0.44}, {'connected_gene': 'MOCS3P1', 'score': 0.34}, {'connected_gene': 'SYT16', 'score': 0.31}]
chr14	GH14I061761	61761426	61766217	2.17	[{'connected_gene': 'SNAPC1', 'score': 573.37}, {'connected_gene': 'GC14P061748', 'score': 0.37}, {'connected_gene': 'ENSG00000258964', 'score': 0.31}, {'connected_gene': 'ENSG00000279633', 'score': 0.28}]
chr14	GH14I061501	61501365	61507131	1.39	[{'connected_gene': 'PRKCH', 'score': 18.6}, {'connected_gene': 'LINC01303', 'score': 11.92}, {'connected_gene': 'FLJ22447', 'score': 11.92}, {'connected_gene': 'SNAPC1', 'score': 10.32}, {'connected_gene': 'HIF1A', 'score': 1.2}, {'connected_gene': 'ENSG00000258989', 'score': 0.34}, {'connected_gene': 'GC14M061347', 'score': 0.34}]
chr14	GH14I061653	61653000	61653903	0.89	[{'connected_gene': 'FLJ22447', 'score': 19.75}, {'connected_gene': 'HIF1A', 'score': 11.81}, {'connected_gene': 'LINC01303', 'score': 11.0}, {'connected_gene': 'SNAPC1', 'score': 4.72}, {'connected_gene': 'GC14P061694', 'score': 0.26}, {'connected_gene': 'GC14P061590', 'score': 0.21}, {'connected_gene': 'ENSG00000258989', 'score': 0.13}]
chr14	GH14I061500	61500133	61500974	0.92	[{'connected_gene': 'FLJ22447', 'score': 11.92}, {'connected_gene': 'LINC01303', 'score': 11.91}, {'connected_gene': 'SNAPC1', 'score': 10.32}, {'connected_gene': 'GC14M061347', 'score': 0.37}, {'connected_gene': 'ENSG00000258989', 'score': 0.31}, {'connected_gene': 'PRKCH', 'score': 0.06}]
chr14	GH14I061694	61694383	61701440	2.25	[{'connected_gene': 'HIF1A', 'score': 550.77}, {'connected_gene': 'SNAPC1', 'score': 5.62}, {'connected_gene': 'FLJ22447', 'score': 4.95}, {'connected_gene': 'GC14P061696', 'score': 0.77}, {'connected_gene': 'HIF1A-AS1', 'score': 0.77}, {'connected_gene': 'GC14P061694', 'score': 0.77}, {'connected_gene': 'GC14P061728', 'score': 0.29}]
chr14	GH14I061468	61468802	61486484	1.73	[{'connected_gene': 'HIF1A', 'score': 23.31}, {'connected_gene': 'LINC01303', 'score': 15.94}, {'connected_gene': 'FLJ22447', 'score': 11.67}, {'connected_gene': 'SNAPC1', 'score': 11.67}, {'connected_gene': 'HIF1A-AS1', 'score': 5.18}, {'connected_gene': 'PRKCH', 'score': 2.35}, {'connected_gene': 'GC14M061347', 'score': 0.44}, {'connected_gene': 'ENSG00000247287', 'score': 0.1}]
chr14	GH14I061831	61831732	61831927	0.27	[{'connected_gene': 'COX4I1P1', 'score': 550.77}, {'connected_gene': 'SNAPC1', 'score': 10.99}, {'connected_gene': 'SYT16', 'score': 0.37}]
chr14	GH14I061498	61498201	61499655	0.89	[{'connected_gene': 'LINC01303', 'score': 11.91}, {'connected_gene': 'FLJ22447', 'score': 11.91}, {'connected_gene': 'SNAPC1', 'score': 10.32}, {'connected_gene': 'GC14M061347', 'score': 0.37}, {'connected_gene': 'ENSG00000258989', 'score': 0.29}, {'connected_gene': 'PRKCH', 'score': 0.06}]
chr14	GH14I061648	61648730	61648835	0.39	[{'connected_gene': 'LINC01303', 'score': 11.36}, {'connected_gene': 'FLJ22447', 'score': 11.36}, {'connected_gene': 'HIF1A', 'score': 11.34}, {'connected_gene': 'SNAPC1', 'score': 10.46}, {'connected_gene': 'SYT16', 'score': 1.84}, {'connected_gene': 'PRKCH', 'score': 1.39}, {'connected_gene': 'GC14P061694', 'score': 0.25}, {'connected_gene': 'GC14P061590', 'score': 0.22}, {'connected_gene': 'ENSG00000258989', 'score': 0.13}]
chr14	GH14I061747	61747747	61756648	2.2	[{'connected_gene': 'HIF1A-AS2', 'score': 550.77}, {'connected_gene': 'LOC105370526', 'score': 550.77}, {'connected_gene': 'SNAPC1', 'score': 11.47}, {'connected_gene': 'FLJ22447', 'score': 4.62}, {'connected_gene': 'SRMP2', 'score': 4.05}, {'connected_gene': 'HIF1A', 'score': 2.32}, {'connected_gene': 'GC14P061748', 'score': 0.77}, {'connected_gene': 'GC14M061747', 'score': 0.77}, {'connected_gene': 'GC14M061748', 'score': 0.77}, {'connected_gene': 'ENSG00000258964', 'score': 0.37}]
chr14	GH14I061733	61733121	61736027	0.31	[{'connected_gene': 'ENSG00000258964', 'score': 550.77}, {'connected_gene': 'FLJ22447', 'score': 18.98}, {'connected_gene': 'SNAPC1', 'score': 11.44}, {'connected_gene': 'LINC01303', 'score': 10.54}, {'connected_gene': 'GC14P061745', 'score': 0.39}, {'connected_gene': 'HIF1A-AS2', 'score': 0.37}, {'connected_gene': 'LOC105370526', 'score': 0.37}, {'connected_gene': 'HIF1A', 'score': 0.28}]