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
ENST00000310544	[[47300723, 47302366], [47304008, 47304120], [47307829, 47307890]]	[[47301607, 47302366], [47304008, 47304053]]
ENST00000413580	[[47300731, 47302493], [47304008, 47304120], [47307829, 47308128]]	[[47301607, 47302486]]
ENST00000514112	[[47301021, 47302493], [47304008, 47304123]]	[[47301607, 47302486]]
ENST00000511066	[[47301800, 47302366], [47304008, 47304120], [47307938, 47308128]]	[[47301800, 47302366], [47304008, 47304053]]
ENST00000574638	[[47302152, 47302366], [47304008, 47304116], [47306435, 47306504]]	[[47302152, 47302366], [47304008, 47304053]]
ENST00000512250	[[47302152, 47302493], [47304008, 47304120], [47307829, 47308109]]	[[47302152, 47302486]]
ENST00000503902	[[47302161, 47302493], [47303017, 47303139], [47304008, 47304120], [47307829, 47308100]]	[[47302161, 47302493], [47303017, 47303139], [47304008, 47304053]]
NM_001143804	[[47300731, 47302493], [47304008, 47304120], [47307829, 47308128]]	[[47301607, 47302486]]
NM_178500	[[47300731, 47302366], [47304008, 47304120], [47307829, 47308128]]	[[47301607, 47302366], [47304008, 47304053]]

Promoter

Chrom	Start	End	Description
chr17	47308059	47308071	CAGE_peak_2_at_PHOSPHO1_5end
chr17	47308103	47308112	CAGE_peak_4_at_PHOSPHO1_5end
chr17	47308115	47308124	CAGE_peak_3_at_PHOSPHO1_5end
chr17	47308129	47308176	CAGE_peak_1_at_PHOSPHO1_5end
chr17	47308186	47308193	CAGE_peak_5_at_PHOSPHO1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I049190	49190723	49194755	1.71	[{'connected_gene': 'TRQ-TTG1-1', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 155.62}, {'connected_gene': 'UBE2Z', 'score': 119.93}, {'connected_gene': 'FAM117A', 'score': 62.8}, {'connected_gene': 'FLJ45513', 'score': 52.73}, {'connected_gene': 'ENSG00000230532', 'score': 44.34}, {'connected_gene': 'KAT7', 'score': 30.69}, {'connected_gene': 'TAC4', 'score': 27.97}, {'connected_gene': 'PICART1', 'score': 27.03}, {'connected_gene': 'CALCOCO2', 'score': 25.22}, {'connected_gene': 'NXPH3', 'score': 18.13}, {'connected_gene': 'B4GALNT2', 'score': 15.14}, {'connected_gene': 'PHOSPHO1', 'score': 12.63}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'HOXB4', 'score': 10.57}, {'connected_gene': 'SPOP', 'score': 10.47}, {'connected_gene': 'HOXB6', 'score': 10.18}, {'connected_gene': 'SNF8', 'score': 10.17}, {'connected_gene': 'ENSG00000250751', 'score': 10.16}, {'connected_gene': 'LOC101927166', 'score': 9.82}, {'connected_gene': 'SAMD14', 'score': 9.71}, {'connected_gene': 'ABI3', 'score': 5.26}, {'connected_gene': 'GNGT2', 'score': 3.59}, {'connected_gene': 'ZNF652', 'score': 1.8}]
chr17	GH17I048970	48970470	48974154	1.54	[{'connected_gene': 'UBE2Z', 'score': 12.67}, {'connected_gene': 'ENSG00000262837', 'score': 11.75}, {'connected_gene': 'TTLL6', 'score': 5.29}, {'connected_gene': 'PHOSPHO1', 'score': 4.53}, {'connected_gene': 'IGF2BP1', 'score': 1.85}, {'connected_gene': 'SNF8', 'score': 1.58}, {'connected_gene': 'GIP', 'score': 0.77}]
chr17	GH17I049387	49387342	49391888	1.63	[{'connected_gene': 'ZNF652', 'score': 21.0}, {'connected_gene': 'SPOP', 'score': 13.09}, {'connected_gene': 'LOC102724596', 'score': 12.23}, {'connected_gene': 'ENSG00000207127', 'score': 11.99}, {'connected_gene': 'PHB', 'score': 11.99}, {'connected_gene': 'ABI3', 'score': 10.89}, {'connected_gene': 'SNF8', 'score': 10.15}, {'connected_gene': 'PHOSPHO1', 'score': 10.12}, {'connected_gene': 'UBE2Z', 'score': 9.67}, {'connected_gene': 'GNGT2', 'score': 9.33}, {'connected_gene': 'KAT7', 'score': 5.66}, {'connected_gene': 'FAM117A', 'score': 3.84}, {'connected_gene': 'RPL21P124', 'score': 0.39}, {'connected_gene': 'ENSG00000250948', 'score': 0.39}, {'connected_gene': 'ENSG00000262039', 'score': 0.37}]
chr17	GH17I049230	49230000	49231428	1.87	[{'connected_gene': 'PHOSPHO1', 'score': 556.14}, {'connected_gene': 'ABI3', 'score': 10.46}, {'connected_gene': 'LOC105371816', 'score': 0.44}]
chr17	GH17I049251	49251374	49253244	1.05	[{'connected_gene': 'PHOSPHO1', 'score': 12.39}, {'connected_gene': 'GNGT2', 'score': 11.01}, {'connected_gene': 'ABI3', 'score': 11.01}, {'connected_gene': 'ZNF652', 'score': 6.41}, {'connected_gene': 'FLJ40194', 'score': 0.77}, {'connected_gene': 'GC17P049267', 'score': 0.37}]
chr17	GH17I049235	49235269	49236000	0.75	[{'connected_gene': 'PHOSPHO1', 'score': 13.31}, {'connected_gene': 'ZNF652', 'score': 4.37}, {'connected_gene': 'SPOP', 'score': 3.93}, {'connected_gene': 'CALCOCO2', 'score': 2.69}, {'connected_gene': 'FLJ40194', 'score': 0.39}]
chr17	GH17I048747	48747295	48747418	0.4	[{'connected_gene': 'PHOSPHO1', 'score': 5.65}, {'connected_gene': 'LOC105371812', 'score': 0.44}, {'connected_gene': 'LOC105371811', 'score': 0.39}]
chr17	GH17I049276	49276779	49276928	0.46	[{'connected_gene': 'PHOSPHO1', 'score': 5.63}, {'connected_gene': 'GC17P049274', 'score': 0.77}, {'connected_gene': 'MIR6129', 'score': 0.39}]
chr17	GH17I049259	49259542	49261436	1.35	[{'connected_gene': 'PHOSPHO1', 'score': 13.0}, {'connected_gene': 'ENSG00000250186', 'score': 10.89}, {'connected_gene': 'RPL21P124', 'score': 10.89}, {'connected_gene': 'PHB', 'score': 10.89}, {'connected_gene': 'ZNF652', 'score': 6.7}, {'connected_gene': 'UBE2Z', 'score': 5.64}, {'connected_gene': 'CALCOCO2', 'score': 4.14}, {'connected_gene': 'GC17P049267', 'score': 0.44}, {'connected_gene': 'FLJ40194', 'score': 0.39}]
chr17	GH17I049249	49249081	49250188	0.74	[{'connected_gene': 'FLJ40194', 'score': 550.77}, {'connected_gene': 'GNGT2', 'score': 11.02}, {'connected_gene': 'ABI3', 'score': 11.02}, {'connected_gene': 'PHOSPHO1', 'score': 9.87}, {'connected_gene': 'GC17P049267', 'score': 0.37}]
chr17	GH17I049687	49687048	49689514	1.49	[{'connected_gene': 'NXPH3', 'score': 11.61}, {'connected_gene': 'LOC100288866', 'score': 11.61}, {'connected_gene': 'SLC35B1', 'score': 11.42}, {'connected_gene': 'PHB', 'score': 10.76}, {'connected_gene': 'RPL21P124', 'score': 10.24}, {'connected_gene': 'ENSG00000250186', 'score': 10.24}, {'connected_gene': 'FAM117A', 'score': 5.97}, {'connected_gene': 'SPOP', 'score': 5.55}, {'connected_gene': 'PHOSPHO1', 'score': 5.18}, {'connected_gene': 'SAMD14', 'score': 4.97}, {'connected_gene': 'KAT7', 'score': 2.33}, {'connected_gene': 'ZNF652', 'score': 1.61}, {'connected_gene': 'GNGT2', 'score': 1.33}, {'connected_gene': 'PPP1R9B', 'score': 1.21}, {'connected_gene': 'ABI3', 'score': 1.14}, {'connected_gene': 'GC17P049692', 'score': 0.77}]
chr17	GH17I049223	49223094	49225428	1	[{'connected_gene': 'LOC105371816', 'score': 550.77}, {'connected_gene': 'PIR31803', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 14.72}, {'connected_gene': 'UBE2Z', 'score': 11.43}, {'connected_gene': 'COL1A1', 'score': 10.11}, {'connected_gene': 'FAM117A', 'score': 9.82}, {'connected_gene': 'TAC4', 'score': 9.77}, {'connected_gene': 'PHOSPHO1', 'score': 0.44}, {'connected_gene': 'ABI3', 'score': 0.39}, {'connected_gene': 'GNGT2', 'score': 0.39}]
chr17	GH17I049227	49227519	49227688	0.79	[{'connected_gene': 'LOC105371816', 'score': 0.77}, {'connected_gene': 'PHOSPHO1', 'score': 0.77}]
chr17	GH17I049438	49438096	49440800	0.74	[{'connected_gene': 'ENSG00000207127', 'score': 11.9}, {'connected_gene': 'PHB', 'score': 11.9}, {'connected_gene': 'NGFR', 'score': 11.85}, {'connected_gene': 'ENSG00000250186', 'score': 11.59}, {'connected_gene': 'RPL21P124', 'score': 11.59}, {'connected_gene': 'NXPH3', 'score': 10.87}, {'connected_gene': 'LOC100288866', 'score': 10.87}, {'connected_gene': 'PHOSPHO1', 'score': 10.35}, {'connected_gene': 'ENSG00000248172', 'score': 9.7}, {'connected_gene': 'DLX3', 'score': 9.7}, {'connected_gene': 'FLJ45513', 'score': 7.34}, {'connected_gene': 'EIF4EP2', 'score': 0.39}, {'connected_gene': 'LINC02075', 'score': 0.34}, {'connected_gene': 'ENSG00000262039', 'score': 0.2}]