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
ENST00000398246	[[12579402, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12589244, 12589366], [12592794, 12592909], [12594209, 12594306], [12594408, 12594649], [12595503, 12595653], [12598382, 12598505], [12600672, 12600791], [12612208, 12612999]]	[[12580604, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12589244, 12589366], [12592794, 12592909], [12594209, 12594306], [12594408, 12594649], [12595503, 12595653], [12598382, 12598505], [12600672, 12600791], [12612208, 12612929]]
ENST00000526680	[[12579414, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12589244, 12589366], [12592794, 12592909], [12594209, 12594306], [12594408, 12594649], [12594780, 12594869], [12595503, 12595653], [12598382, 12598505], [12600672, 12600752]]	[[12594600, 12594649], [12594780, 12594869], [12595503, 12595545]]
ENST00000527055	[[12580266, 12580763], [12583235, 12583507]]	None
ENST00000525024	[[12580452, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586896]]	[[12580604, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586807]]
ENST00000533751	[[12580479, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12589244, 12589366], [12592794, 12592909], [12594209, 12594306], [12594408, 12594649], [12595503, 12595653], [12598382, 12598505], [12600672, 12600791], [12610534, 12611851]]	[[12580604, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12589244, 12589366], [12592794, 12592909], [12594209, 12594306], [12594408, 12594649], [12595503, 12595545]]
ENST00000524526	[[12580489, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12589244, 12589366], [12592794, 12592909], [12594209, 12594273], [12594408, 12594604]]	[[12580604, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12589244, 12589366], [12592794, 12592909], [12594209, 12594273], [12594408, 12594604]]
ENST00000526610	[[12586682, 12586841], [12589244, 12589366], [12592794, 12593135]]	None
ENST00000534446	[[12594207, 12594273], [12594408, 12594649], [12594780, 12594869], [12595503, 12595653], [12596142, 12596275]]	[[12594600, 12594649], [12594780, 12594869], [12595503, 12595545]]
ENST00000530693	[[12595537, 12595653], [12598382, 12598505], [12600672, 12600791], [12613432, 12613582]]	None
NM_152271	[[12579402, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12589244, 12589366], [12592794, 12592909], [12594209, 12594306], [12594408, 12594649], [12595503, 12595653], [12598382, 12598505], [12600672, 12600791], [12612208, 12612951]]	[[12580604, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12589244, 12589366], [12592794, 12592909], [12594209, 12594306], [12594408, 12594649], [12595503, 12595653], [12598382, 12598505], [12600672, 12600791], [12612208, 12612929]]
NR_138255	[[12579402, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12592794, 12592909], [12594209, 12594306], [12594408, 12594649], [12595503, 12595653], [12598382, 12598505], [12600672, 12600791], [12612208, 12612951]]	None
NM_001329976	[[12579402, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12589244, 12589366], [12592794, 12592909], [12594209, 12594273], [12594408, 12594649], [12595503, 12595653], [12598382, 12598505], [12600672, 12600791], [12612208, 12612951]]	[[12580604, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12589244, 12589366], [12592794, 12592909], [12594209, 12594273], [12594408, 12594649], [12595503, 12595653], [12598382, 12598505], [12600672, 12600791], [12612208, 12612929]]
NR_138256	[[12579402, 12580763], [12583235, 12583388], [12586409, 12586572], [12586682, 12586841], [12592794, 12592909], [12594209, 12594273], [12594408, 12594649], [12595503, 12595653], [12598382, 12598505], [12600672, 12600791], [12612208, 12612951]]	None

Promoter

Chrom	Start	End	Description
chr8	12612962	12613049	CAGE_peak_1_at_LONRF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I012708	12708972	12709121	0.49	[{'connected_gene': 'LONRF1', 'score': 10.6}, {'connected_gene': 'OR7E10P', 'score': 0.77}, {'connected_gene': 'MIR5692A2', 'score': 0.39}]
chr8	GH08I012797	12797001	12797400	0.2	[{'connected_gene': 'LONRF1', 'score': 11.54}, {'connected_gene': 'LINC00681', 'score': 0.77}, {'connected_gene': 'LOC340357', 'score': 0.39}, {'connected_gene': 'GC08P012767', 'score': 0.31}]
chr8	GH08I012721	12721332	12721481	0.2	[{'connected_gene': 'LONRF1', 'score': 10.98}, {'connected_gene': 'MIR5692A2', 'score': 0.77}, {'connected_gene': 'MIR3926-2', 'score': 0.44}]
chr8	GH08I012751	12751289	12751668	0.2	[{'connected_gene': 'LONRF1', 'score': 0.77}, {'connected_gene': 'MIR3926-1', 'score': 0.34}]
chr8	GH08I012750	12750001	12750600	0.46	[{'connected_gene': 'LONRF1', 'score': 0.44}, {'connected_gene': 'MIR3926-1', 'score': 0.34}]
chr8	GH08I012753	12750801	12751200	0.54	[{'connected_gene': 'LONRF1', 'score': 0.44}, {'connected_gene': 'MIR3926-1', 'score': 0.34}]
chr8	GH08I012752	12752274	12758834	2.54	[{'connected_gene': 'LONRF1', 'score': 552.09}, {'connected_gene': 'RPS3AP34', 'score': 15.12}, {'connected_gene': 'LOC649352', 'score': 4.96}, {'connected_gene': 'MIR3926-1', 'score': 0.31}]
chr8	GH08I012840	12840772	12840921	0.71	[{'connected_gene': 'LONRF1', 'score': 11.82}, {'connected_gene': 'RPS3AP34', 'score': 11.14}, {'connected_gene': 'TRMT9B', 'score': 9.96}, {'connected_gene': 'ENSG00000255122', 'score': 9.83}, {'connected_gene': 'PIR55936', 'score': 0.37}, {'connected_gene': 'GC08P012821', 'score': 0.37}]
chr8	GH08I013120	13120458	13135170	2.67	[{'connected_gene': 'DLC1', 'score': 556.97}, {'connected_gene': 'RNU6-842P', 'score': 11.46}, {'connected_gene': 'RPS3AP34', 'score': 11.14}, {'connected_gene': 'ENSG00000255122', 'score': 10.05}, {'connected_gene': 'ALG1L12P', 'score': 5.71}, {'connected_gene': 'LONRF1', 'score': 5.64}, {'connected_gene': 'TRMT9B', 'score': 4.8}, {'connected_gene': 'LOC100421094', 'score': 4.64}, {'connected_gene': 'GC08P013101', 'score': 0.31}, {'connected_gene': 'PIR45901', 'score': 0.31}, {'connected_gene': 'GC08P013155', 'score': 0.31}, {'connected_gene': 'GC08M013094', 'score': 0.22}]
chr8	GH08I012795	12795196	12795390	0.57	[{'connected_gene': 'LINC00681', 'score': 550.77}, {'connected_gene': 'LONRF1', 'score': 11.56}, {'connected_gene': 'LOC340357', 'score': 0.37}, {'connected_gene': 'GC08P012767', 'score': 0.31}]
chr8	GH08I012725	12725412	12727941	1.04	[{'connected_gene': 'MIR3926-1', 'score': 550.77}, {'connected_gene': 'MIR3926-2', 'score': 550.77}, {'connected_gene': 'LONRF1', 'score': 16.63}, {'connected_gene': 'MIR5692A2', 'score': 0.44}]
chr8	GH08I012961	12961750	12961802	0.22	[{'connected_gene': 'LOC100422204', 'score': 9.93}, {'connected_gene': 'TRMT9B', 'score': 6.76}, {'connected_gene': 'LONRF1', 'score': 2.02}, {'connected_gene': 'PIR63002', 'score': 0.28}]
chr8	GH08I012764	12764541	12767688	1.48	[{'connected_gene': 'GC08P012767', 'score': 550.77}, {'connected_gene': 'LONRF1', 'score': 9.45}, {'connected_gene': 'LINC00681', 'score': 9.43}, {'connected_gene': 'DLC1', 'score': 1.41}, {'connected_gene': 'LOC340357', 'score': 0.25}]
chr8	GH08I012999	12999351	12999723	0.27	[{'connected_gene': 'PIR63002', 'score': 550.77}, {'connected_gene': 'TRMT9B', 'score': 27.98}, {'connected_gene': 'LONRF1', 'score': 2.84}, {'connected_gene': 'LOC100422204', 'score': 0.26}]
chr8	GH08I012966	12966058	12966295	0.72	[{'connected_gene': 'TRMT9B', 'score': 566.71}, {'connected_gene': 'LONRF1', 'score': 1.73}, {'connected_gene': 'LOC100422204', 'score': 0.44}, {'connected_gene': 'PIR63002', 'score': 0.28}]