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
ENST00000315796	[[172864489, 172864916], [172926225, 172926383], [172928438, 172928588], [172930331, 172930480], [172930991, 172931034], [172935634, 172935798], [172942524, 172942622], [172943942, 172943990], [172944855, 172944934], [172945055, 172947158]]	[[172864876, 172864916], [172926225, 172926383], [172928438, 172928588], [172930331, 172930480], [172930991, 172931034], [172935634, 172935798], [172942524, 172942622], [172943942, 172943990], [172944855, 172944934], [172945055, 172945134]]
ENST00000493035	[[172864849, 172864916], [172926225, 172926383], [172928438, 172929142]]	None
ENST00000493742	[[172864861, 172864916], [172926225, 172926722]]	None
ENST00000491440	[[172886702, 172886771], [172926225, 172926383], [172928438, 172928478]]	None
ENST00000488581	[[172926300, 172926383], [172928438, 172928588], [172930991, 172931034], [172935634, 172935798], [172942524, 172942622], [172943942, 172943990], [172944855, 172945227]]	None
ENST00000392582	[[172930331, 172930480], [172930991, 172931034], [172935634, 172935798], [172937078, 172937182]]	None
ENST00000468537	[[172935390, 172935798], [172942524, 172942622], [172943942, 172943990], [172944855, 172945207]]	None
NR_136276	[[172864803, 172864916], [172926225, 172926383], [172928438, 172928588], [172930991, 172931034], [172935634, 172935798], [172942524, 172942622], [172943942, 172943990], [172944855, 172944934], [172945055, 172947158]]	None
NM_199227	[[172864803, 172864916], [172926225, 172926383], [172928438, 172928588], [172930331, 172930480], [172930991, 172931034], [172935634, 172935798], [172942524, 172942622], [172943942, 172943990], [172944855, 172944934], [172945055, 172947158]]	[[172864876, 172864916], [172926225, 172926383], [172928438, 172928588], [172930331, 172930480], [172930991, 172931034], [172935634, 172935798], [172942524, 172942622], [172943942, 172943990], [172944855, 172944934], [172945055, 172945134]]
NR_136273	[[172864803, 172864916], [172926225, 172926383], [172928438, 172928674], [172930991, 172931034], [172935634, 172935798], [172942524, 172942622], [172943942, 172943990], [172944855, 172944934], [172945055, 172947158]]	None
NM_001322278	[[172864803, 172864916], [172926225, 172926383], [172928438, 172928674], [172930331, 172930480], [172930991, 172931034], [172935634, 172935798], [172942524, 172942622], [172943942, 172943990], [172944855, 172944934], [172945055, 172947158]]	[[172930337, 172930480], [172930991, 172931034], [172935634, 172935798], [172942524, 172942622], [172943942, 172943990], [172944855, 172944934], [172945055, 172945134]]
NM_001322279	[[172864803, 172864966], [172926225, 172926383], [172928438, 172928588], [172930331, 172930480], [172930991, 172931034], [172935634, 172935798], [172942524, 172942622], [172943942, 172943990], [172944855, 172944934], [172945055, 172947158]]	[[172930337, 172930480], [172930991, 172931034], [172935634, 172935798], [172942524, 172942622], [172943942, 172943990], [172944855, 172944934], [172945055, 172945134]]

Promoter

Chrom	Start	End	Description
chr2	172864844	172864876	CAGE_peak_1_at_METAP1D_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I171271	171271511	171272716	1.03	[{'connected_gene': 'TLK1', 'score': 12.1}, {'connected_gene': 'METTL8', 'score': 6.93}, {'connected_gene': 'METAP1D', 'score': 4.13}, {'connected_gene': 'GC02M171274', 'score': 0.77}, {'connected_gene': 'LOC105373737', 'score': 0.31}]
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	GH02I171711	171711108	171713111	0.97	[{'connected_gene': 'SLC25A12', 'score': 15.58}, {'connected_gene': 'METAP1D', 'score': 10.6}, {'connected_gene': 'DYNC1I2', 'score': 0.34}, {'connected_gene': 'GC02P171811', 'score': 0.15}]
chr2	GH02I171793	171793307	171793423	0.44	[{'connected_gene': 'SLC25A12', 'score': 10.72}, {'connected_gene': 'METAP1D', 'score': 10.72}, {'connected_gene': 'GC02P171811', 'score': 0.37}, {'connected_gene': 'DYNC1I2', 'score': 0.14}]
chr2	GH02I172017	172017801	172018600	0.31	[{'connected_gene': 'SLC25A12', 'score': 0.37}, {'connected_gene': 'METAP1D', 'score': 0.37}, {'connected_gene': 'GC02P172074', 'score': 0.22}]
chr2	GH02I172027	172027709	172028466	0.88	[{'connected_gene': 'SLC25A12', 'score': 0.31}, {'connected_gene': 'METAP1D', 'score': 0.31}, {'connected_gene': 'GC02P172074', 'score': 0.25}]
chr2	GH02I172011	172011601	172012600	0.49	[{'connected_gene': 'SLC25A12', 'score': 0.39}, {'connected_gene': 'METAP1D', 'score': 0.39}, {'connected_gene': 'GC02P172074', 'score': 0.21}]
chr2	GH02I172038	172038751	172038940	0.83	[{'connected_gene': 'SLC25A12', 'score': 0.28}, {'connected_gene': 'METAP1D', 'score': 0.28}, {'connected_gene': 'GC02P172074', 'score': 0.28}]
chr2	GH02I172008	172008154	172009687	0.8	[{'connected_gene': 'SLC25A12', 'score': 0.44}, {'connected_gene': 'METAP1D', 'score': 0.44}, {'connected_gene': 'GC02P172074', 'score': 0.2}]
chr2	GH02I172021	172021527	172022457	1.05	[{'connected_gene': 'SLC25A12', 'score': 0.34}, {'connected_gene': 'METAP1D', 'score': 0.34}, {'connected_gene': 'GC02P172074', 'score': 0.23}]
chr2	GH02I172013	172013154	172013303	0.46	[{'connected_gene': 'SLC25A12', 'score': 11.23}, {'connected_gene': 'METAP1D', 'score': 0.39}, {'connected_gene': 'GC02P172074', 'score': 0.21}]
chr2	GH02I172246	172246478	172255329	1.69	[{'connected_gene': 'DCAF17', 'score': 43.51}, {'connected_gene': 'ITGA6', 'score': 20.62}, {'connected_gene': 'ENSG00000226963', 'score': 11.26}, {'connected_gene': 'METAP1D', 'score': 10.28}, {'connected_gene': 'DAP3P2', 'score': 9.91}, {'connected_gene': 'ENSG00000232555', 'score': 0.21}, {'connected_gene': 'GC02M172117', 'score': 0.21}]
chr2	GH02I171244	171244099	171246180	1.45	[{'connected_gene': 'DCAF17', 'score': 17.03}, {'connected_gene': 'GORASP2', 'score': 12.38}, {'connected_gene': 'DAP3P2', 'score': 11.99}, {'connected_gene': 'METAP1D', 'score': 10.11}, {'connected_gene': 'METTL8', 'score': 5.22}, {'connected_gene': 'TLK1', 'score': 0.39}, {'connected_gene': 'GC02M171274', 'score': 0.31}, {'connected_gene': 'LOC105373737', 'score': 0.22}]
chr2	GH02I172552	172552148	172558241	2.32	[{'connected_gene': 'PDK1', 'score': 564.06}, {'connected_gene': 'ENSG00000225205', 'score': 550.77}, {'connected_gene': 'METAP1D', 'score': 10.11}, {'connected_gene': 'GC02M172559', 'score': 0.77}, {'connected_gene': 'ENSG00000199866', 'score': 0.77}, {'connected_gene': 'GC02P172546', 'score': 0.44}]
chr2	GH02I171999	171999271	172001280	1.59	[{'connected_gene': 'METAP1D', 'score': 560.85}, {'connected_gene': 'SLC25A12', 'score': 559.49}, {'connected_gene': 'DCAF17', 'score': 25.5}, {'connected_gene': 'DAP3P2', 'score': 24.41}, {'connected_gene': 'RPS15P4', 'score': 11.92}, {'connected_gene': 'GC02P172074', 'score': 0.19}]
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	GH02I172587	172587648	172587798	0.35	[{'connected_gene': 'ENSG00000225205', 'score': 11.51}, {'connected_gene': 'PDK1', 'score': 11.51}, {'connected_gene': 'METAP1D', 'score': 5.86}, {'connected_gene': 'GC02M172559', 'score': 0.31}, {'connected_gene': 'ENSG00000199866', 'score': 0.31}, {'connected_gene': 'GC02M172611', 'score': 0.18}]
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}]