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
ENST00000412731	[[172778957, 172779017], [172782046, 172782151], [172809398, 172809519], [172821858, 172822038], [172822307, 172822429], [172822929, 172823034], [172823363, 172823470], [172841095, 172841247], [172844159, 172844276], [172848098, 172848596]]	[[172779010, 172779017], [172782046, 172782151], [172809398, 172809427]]
ENST00000392584	[[172778957, 172779017], [172782046, 172782151], [172809398, 172809519], [172821858, 172822038], [172822307, 172822429], [172822929, 172823034], [172823363, 172823470], [172841095, 172841247], [172844159, 172844276], [172848098, 172848599]]	[[172809465, 172809519], [172821858, 172822038], [172822307, 172822429], [172822929, 172823034], [172823363, 172823470], [172841095, 172841247], [172844159, 172844276], [172848098, 172848266]]
ENST00000460481	[[172778971, 172779017], [172779431, 172779985]]	None
ENST00000457761	[[172778971, 172779017], [172782046, 172782151], [172803227, 172803303], [172821858, 172822038], [172822307, 172822429], [172822929, 172823034], [172823363, 172823470], [172841095, 172841247], [172844159, 172844908]]	[[172779010, 172779017], [172782046, 172782151], [172803227, 172803303], [172821858, 172822038], [172822307, 172822317]]
ENST00000264108	[[172778974, 172779017], [172782046, 172782151], [172803227, 172803303], [172809398, 172809519], [172821858, 172822038], [172822307, 172822429], [172822929, 172823034], [172823363, 172823470], [172841095, 172841247], [172844159, 172844276], [172848098, 172848596]]	[[172779010, 172779017], [172782046, 172782151], [172803227, 172803303], [172809398, 172809519], [172821858, 172822038], [172822307, 172822429], [172822929, 172823034], [172823363, 172823470], [172841095, 172841247], [172844159, 172844276], [172848098, 172848266]]
ENST00000494601	[[172779116, 172781437], [172782046, 172782151], [172803227, 172803303], [172809398, 172809519], [172821858, 172822038], [172822307, 172822429], [172822929, 172823034], [172823363, 172823470], [172841095, 172841247], [172844159, 172844276], [172848098, 172848537]]	None
ENST00000477327	[[172821354, 172822038], [172822307, 172823470], [172841095, 172841247], [172844159, 172845768]]	None
NR_027862	[[172778934, 172779017], [172782046, 172782151], [172809398, 172809519], [172821858, 172822038], [172822307, 172822429], [172822929, 172823034], [172823363, 172823470], [172841095, 172841247], [172844159, 172844276], [172848098, 172848600]]	None
NM_003642	[[172778934, 172779017], [172782046, 172782151], [172803227, 172803303], [172809398, 172809519], [172821858, 172822038], [172822307, 172822429], [172822929, 172823034], [172823363, 172823470], [172841095, 172841247], [172844159, 172844276], [172848098, 172848600]]	[[172779010, 172779017], [172782046, 172782151], [172803227, 172803303], [172809398, 172809519], [172821858, 172822038], [172822307, 172822429], [172822929, 172823034], [172823363, 172823470], [172841095, 172841247], [172844159, 172844276], [172848098, 172848266]]

Promoter

Chrom	Start	End	Description
chr2	172778926	172778950	CAGE_peak_2_at_HAT1_5end
chr2	172778952	172779004	CAGE_peak_1_at_HAT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I171158	171158132	171162490	2.25	[{'connected_gene': 'TLK1', 'score': 550.19}, {'connected_gene': 'GORASP2', 'score': 15.24}, {'connected_gene': 'DCAF17', 'score': 13.59}, {'connected_gene': 'HAT1', 'score': 11.7}, {'connected_gene': 'METAP1D', 'score': 10.24}, {'connected_gene': 'DAP3P2', 'score': 9.93}, {'connected_gene': 'GC02P171119', 'score': 0.26}, {'connected_gene': 'GC02P171227', 'score': 0.2}]
chr2	GH02I171893	171893221	171895125	2.03	[{'connected_gene': 'SLC25A12', 'score': 567.89}, {'connected_gene': 'HAT1', 'score': 12.41}, {'connected_gene': 'METAP1D', 'score': 10.53}, {'connected_gene': 'LOC105373739', 'score': 0.34}, {'connected_gene': 'RNU6-182P', 'score': 0.28}]
chr2	GH02I171806	171806598	171808540	0.81	[{'connected_gene': 'SLC25A12', 'score': 18.53}, {'connected_gene': 'METAP1D', 'score': 10.67}, {'connected_gene': 'HAT1', 'score': 10.63}, {'connected_gene': 'GC02P171811', 'score': 0.77}, {'connected_gene': 'DYNC1I2', 'score': 0.13}]
chr2	GH02I172052	172052413	172052562	0.95	[{'connected_gene': 'SLC25A12', 'score': 11.96}, {'connected_gene': 'METAP1D', 'score': 11.96}, {'connected_gene': 'HAT1', 'score': 11.79}, {'connected_gene': 'GC02P172074', 'score': 0.34}]
chr2	GH02I172066	172066478	172066866	1.01	[{'connected_gene': 'SLC25A12', 'score': 11.42}, {'connected_gene': 'METAP1D', 'score': 11.42}, {'connected_gene': 'HAT1', 'score': 10.83}, {'connected_gene': 'GC02P172074', 'score': 0.44}]
chr2	GH02I171086	171086273	171088026	1.09	[{'connected_gene': 'HAT1', 'score': 12.62}, {'connected_gene': 'GORASP2', 'score': 4.58}, {'connected_gene': 'GC02M171061', 'score': 0.37}, {'connected_gene': 'GC02P171119', 'score': 0.29}, {'connected_gene': 'TLK1', 'score': 0.11}]
chr2	GH02I171921	171921334	171924718	2.07	[{'connected_gene': 'HAT1', 'score': 563.36}, {'connected_gene': 'LOC105373740', 'score': 550.77}, {'connected_gene': 'DAP3P2', 'score': 13.34}, {'connected_gene': 'DCAF17', 'score': 10.9}, {'connected_gene': 'SLC25A12', 'score': 10.58}, {'connected_gene': 'GC02M171942', 'score': 0.37}]
chr2	GH02I171891	171891041	171891307	0.22	[{'connected_gene': 'HAT1', 'score': 11.96}, {'connected_gene': 'LOC105373739', 'score': 0.31}, {'connected_gene': 'RNU6-182P', 'score': 0.29}, {'connected_gene': 'SLC25A12', 'score': 0.14}]
chr2	GH02I171686	171686851	171689362	2.08	[{'connected_gene': 'DYNC1I2', 'score': 550.77}, {'connected_gene': 'DAP3P2', 'score': 25.45}, {'connected_gene': 'RPS15P4', 'score': 10.33}, {'connected_gene': 'DCAF17', 'score': 10.03}, {'connected_gene': 'GORASP2', 'score': 9.9}, {'connected_gene': 'TLK1', 'score': 9.84}, {'connected_gene': 'HAT1', 'score': 5.41}, {'connected_gene': 'GC02P171811', 'score': 0.13}]
chr2	GH02I172092	172092917	172103444	3.39	[{'connected_gene': 'DLX2', 'score': 562.0}, {'connected_gene': 'DCAF17', 'score': 42.54}, {'connected_gene': 'DAP3P2', 'score': 38.33}, {'connected_gene': 'RPS15P4', 'score': 10.32}, {'connected_gene': 'METAP1D', 'score': 10.24}, {'connected_gene': 'HAT1', 'score': 9.98}, {'connected_gene': 'ITGA6', 'score': 9.94}, {'connected_gene': 'ENSG00000232788', 'score': 9.93}, {'connected_gene': 'DLX1', 'score': 7.9}, {'connected_gene': 'DYNC1I2', 'score': 1.64}, {'connected_gene': 'DLX2-AS1', 'score': 0.77}, {'connected_gene': 'GC02P172093', 'score': 0.77}]
chr2	GH02I171878	171878090	171879058	1.05	[{'connected_gene': 'RNU6-182P', 'score': 11.4}, {'connected_gene': 'HAT1', 'score': 10.96}, {'connected_gene': 'SLC25A12', 'score': 10.3}, {'connected_gene': 'METAP1D', 'score': 10.3}, {'connected_gene': 'LOC105373739', 'score': 0.28}]
chr2	GH02I171966	171966061	171966530	0.66	[{'connected_gene': 'GC02M171944', 'score': 550.77}, {'connected_gene': 'SLC25A12', 'score': 12.04}, {'connected_gene': 'METAP1D', 'score': 12.04}, {'connected_gene': 'HAT1', 'score': 11.16}, {'connected_gene': 'GC02P171964', 'score': 0.77}]
chr2	GH02I171963	171963843	171964792	1.17	[{'connected_gene': 'GC02P171964', 'score': 550.77}, {'connected_gene': 'SLC25A12', 'score': 12.02}, {'connected_gene': 'METAP1D', 'score': 12.02}, {'connected_gene': 'HAT1', 'score': 11.16}, {'connected_gene': 'GC02M171944', 'score': 0.77}]
chr2	GH02I171956	171956001	171957425	0.62	[{'connected_gene': 'PIR50788', 'score': 550.77}, {'connected_gene': 'HAT1', 'score': 12.43}, {'connected_gene': 'SLC25A12', 'score': 12.05}, {'connected_gene': 'METAP1D', 'score': 12.05}, {'connected_gene': 'GC02M171944', 'score': 0.44}, {'connected_gene': 'GC02M171942', 'score': 0.37}]
chr2	GH02I171958	171958401	171958801	0.49	[{'connected_gene': 'PIR50788', 'score': 550.77}, {'connected_gene': 'HAT1', 'score': 12.08}, {'connected_gene': 'SLC25A12', 'score': 11.18}, {'connected_gene': 'METAP1D', 'score': 11.18}, {'connected_gene': 'GC02P171964', 'score': 0.44}, {'connected_gene': 'GC02M171944', 'score': 0.44}]
chr2	GH02I171954	171954920	171955009	0.65	[{'connected_gene': 'PIR50788', 'score': 550.77}, {'connected_gene': 'HAT1', 'score': 12.43}, {'connected_gene': 'SLC25A12', 'score': 12.05}, {'connected_gene': 'METAP1D', 'score': 12.05}, {'connected_gene': 'GC02M171942', 'score': 0.39}, {'connected_gene': 'GC02M171944', 'score': 0.39}]
chr2	GH02I171936	171936361	171936572	0.22	[{'connected_gene': 'GC02M171942', 'score': 0.77}, {'connected_gene': 'HAT1', 'score': 0.39}, {'connected_gene': 'SLC25A12', 'score': 0.21}]
chr2	GH02I172074	172074344	172074596	0.69	[{'connected_gene': 'GC02P172074', 'score': 550.77}, {'connected_gene': 'DLX2', 'score': 11.99}, {'connected_gene': 'DLX2-AS1', 'score': 11.99}, {'connected_gene': 'SLC25A12', 'score': 11.53}, {'connected_gene': 'METAP1D', 'score': 11.53}, {'connected_gene': 'HAT1', 'score': 10.97}, {'connected_gene': 'DLX1', 'score': 0.39}]
chr2	GH02I172071	172071791	172073521	1.12	[{'connected_gene': 'GC02P172074', 'score': 550.77}, {'connected_gene': 'DLX2', 'score': 11.97}, {'connected_gene': 'DLX2-AS1', 'score': 11.97}, {'connected_gene': 'SLC25A12', 'score': 11.53}, {'connected_gene': 'METAP1D', 'score': 11.53}, {'connected_gene': 'HAT1', 'score': 10.97}]