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
ENST00000558276	[[19672521, 19672926], [19674317, 19674633]]	None
ENST00000251203	[[19672521, 19672926], [19674317, 19674424], [19675741, 19675898], [19680257, 19680393], [19680917, 19681108], [19681394, 19681642], [19710100, 19710174], [19729319, 19729725]]	[[19672833, 19672926], [19674317, 19674424], [19675741, 19675898], [19680257, 19680393], [19680917, 19681108], [19681394, 19681642], [19710100, 19710174], [19729319, 19729438]]
ENST00000557978	[[19672801, 19672926], [19674317, 19674424], [19675741, 19675898], [19680257, 19680393], [19680907, 19681108], [19681495, 19681642], [19710100, 19710174], [19729319, 19729502]]	[[19681097, 19681108], [19681495, 19681642], [19710100, 19710174], [19729319, 19729438]]
ENST00000558222	[[19675583, 19675898], [19680257, 19680393], [19680917, 19681108], [19681495, 19681642], [19710100, 19710174], [19729319, 19729490]]	[[19681097, 19681108], [19681495, 19681642], [19710100, 19710174], [19729319, 19729438]]
ENST00000559735	[[19681034, 19681680], [19690640, 19690763]]	None
NM_025245	[[19672515, 19672926], [19674317, 19674424], [19675741, 19675898], [19680257, 19680393], [19680917, 19681108], [19681394, 19681642], [19710100, 19710174], [19729319, 19729725]]	[[19672833, 19672926], [19674317, 19674424], [19675741, 19675898], [19680257, 19680393], [19680917, 19681108], [19681394, 19681642], [19710100, 19710174], [19729319, 19729438]]
NR_038198	[[19672515, 19672926], [19674317, 19674424], [19675741, 19675898], [19680257, 19680393], [19680917, 19681108], [19681495, 19681642], [19710100, 19710174], [19729319, 19729725]]	None

Promoter

Chrom	Start	End	Description
chr19	19729458	19729469	CAGE_peak_2_at_PBX4_5end
chr19	19729477	19729542	CAGE_peak_1_at_PBX4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I019612	19612425	19614386	0.63	[{'connected_gene': 'LPAR2', 'score': 18.51}, {'connected_gene': 'GMIP', 'score': 13.46}, {'connected_gene': 'ATP13A1', 'score': 13.4}, {'connected_gene': 'LINC00663', 'score': 6.73}, {'connected_gene': 'ENSG00000259242', 'score': 0.44}, {'connected_gene': 'PBX4', 'score': 0.44}]
chr19	GH19I019627	19627188	19629741	1.85	[{'connected_gene': 'LPAR2', 'score': 559.35}, {'connected_gene': 'NR2C2AP', 'score': 16.03}, {'connected_gene': 'UPF1', 'score': 14.22}, {'connected_gene': 'ZNF90', 'score': 13.53}, {'connected_gene': 'ATP13A1', 'score': 13.53}, {'connected_gene': 'TMEM161A', 'score': 11.16}, {'connected_gene': 'MAU2', 'score': 10.38}, {'connected_gene': 'PBX4', 'score': 0.44}, {'connected_gene': 'GMIP', 'score': 0.37}, {'connected_gene': 'GC19M019627', 'score': 0.31}]
chr19	GH19I019575	19575442	19576005	0.43	[{'connected_gene': 'PBX4', 'score': 12.02}, {'connected_gene': 'LPAR2', 'score': 11.99}, {'connected_gene': 'GMIP', 'score': 11.96}, {'connected_gene': 'ATP13A1', 'score': 11.91}, {'connected_gene': 'GC19P020280', 'score': 0.77}, {'connected_gene': 'GC19M019588', 'score': 0.39}]
chr19	GH19I019617	19617856	19619589	1.87	[{'connected_gene': 'PBX4', 'score': 550.77}, {'connected_gene': 'LPAR2', 'score': 4.54}, {'connected_gene': 'ENSG00000259242', 'score': 0.39}]
chr19	GH19I019594	19594525	19603458	1.58	[{'connected_gene': 'ATP13A1', 'score': 34.0}, {'connected_gene': 'LPAR2', 'score': 20.58}, {'connected_gene': 'UPF1', 'score': 19.98}, {'connected_gene': 'GATAD2A', 'score': 17.9}, {'connected_gene': 'NR2C2AP', 'score': 15.98}, {'connected_gene': 'ZNF90', 'score': 15.27}, {'connected_gene': 'GMIP', 'score': 15.24}, {'connected_gene': 'MAU2', 'score': 13.87}, {'connected_gene': 'ENSG00000267481', 'score': 12.01}, {'connected_gene': 'BNIP3P16', 'score': 10.9}, {'connected_gene': 'MEF2B', 'score': 10.53}, {'connected_gene': 'PBX4', 'score': 5.43}, {'connected_gene': 'NDUFA13', 'score': 4.89}, {'connected_gene': 'RFXANK', 'score': 2.09}, {'connected_gene': 'ZNF14', 'score': 2.05}, {'connected_gene': 'ZNF506', 'score': 1.45}, {'connected_gene': 'ENSG00000259242', 'score': 0.44}, {'connected_gene': 'PHF5CP', 'score': 0.39}]
chr19	GH19I019865	19865212	19868235	2.28	[{'connected_gene': 'ZNF253', 'score': 558.67}, {'connected_gene': 'ZNF93', 'score': 20.23}, {'connected_gene': 'ZNF506', 'score': 19.5}, {'connected_gene': 'ATP13A1', 'score': 15.16}, {'connected_gene': 'MEF2B', 'score': 13.41}, {'connected_gene': 'NR2C2AP', 'score': 13.06}, {'connected_gene': 'GATAD2A', 'score': 12.14}, {'connected_gene': 'ZNF14', 'score': 10.42}, {'connected_gene': 'PBX4', 'score': 9.42}, {'connected_gene': 'VN1R77P', 'score': 5.64}, {'connected_gene': 'ZNF101', 'score': 2.87}, {'connected_gene': 'ZNF682', 'score': 2.82}, {'connected_gene': 'LPAR2', 'score': 1.35}, {'connected_gene': 'BNIP3P10', 'score': 0.77}]
chr19	GH19I019589	19589693	19592891	1.54	[{'connected_gene': 'GATAD2A', 'score': 27.1}, {'connected_gene': 'PBX4', 'score': 17.44}, {'connected_gene': 'GMIP', 'score': 13.95}, {'connected_gene': 'LPAR2', 'score': 11.9}, {'connected_gene': 'ATP13A1', 'score': 11.8}, {'connected_gene': 'RFXANK', 'score': 2.04}, {'connected_gene': 'ZNF14', 'score': 2.03}, {'connected_gene': 'MAU2', 'score': 1.58}, {'connected_gene': 'ZNF506', 'score': 1.25}, {'connected_gene': 'PHF5CP', 'score': 0.77}, {'connected_gene': 'ENSG00000259242', 'score': 0.37}]
chr19	GH19I019456	19456515	19466015	1.63	[{'connected_gene': 'GATAD2A', 'score': 46.6}, {'connected_gene': 'NDUFA13', 'score': 36.16}, {'connected_gene': 'GMIP', 'score': 18.63}, {'connected_gene': 'MIR640', 'score': 13.29}, {'connected_gene': 'MAU2', 'score': 5.17}, {'connected_gene': 'TM6SF2', 'score': 4.01}, {'connected_gene': 'RFXANK', 'score': 3.89}, {'connected_gene': 'PBX4', 'score': 1.9}, {'connected_gene': 'ZNF14', 'score': 1.65}, {'connected_gene': 'ZNF506', 'score': 1.31}, {'connected_gene': 'PIR48619', 'score': 0.39}, {'connected_gene': 'GC19P019843', 'score': 0.31}]
chr19	GH19I019484	19484807	19491145	1.72	[{'connected_gene': 'GATAD2A', 'score': 24.02}, {'connected_gene': 'NR2C2AP', 'score': 15.03}, {'connected_gene': 'ZNF90', 'score': 13.32}, {'connected_gene': 'ENSG00000268030', 'score': 12.34}, {'connected_gene': 'TMEM161A', 'score': 10.74}, {'connected_gene': 'ATP13A1', 'score': 10.32}, {'connected_gene': 'ENSG00000267481', 'score': 10.2}, {'connected_gene': 'YJEFN3', 'score': 4.98}, {'connected_gene': 'TM6SF2', 'score': 4.0}, {'connected_gene': 'RFXANK', 'score': 3.05}, {'connected_gene': 'GMIP', 'score': 2.63}, {'connected_gene': 'PBX4', 'score': 1.91}, {'connected_gene': 'MAU2', 'score': 1.78}, {'connected_gene': 'GC19M019490', 'score': 0.39}, {'connected_gene': 'PIR48619', 'score': 0.39}]
chr19	GH19I019614	19614614	19616189	0.76	[{'connected_gene': 'NDUFA13', 'score': 18.3}, {'connected_gene': 'GATAD2A', 'score': 8.11}, {'connected_gene': 'ATP13A1', 'score': 5.1}, {'connected_gene': 'PBX4', 'score': 0.77}, {'connected_gene': 'ENSG00000259242', 'score': 0.44}]
chr19	GH19I019593	19593193	19594013	0.2	[{'connected_gene': 'PHF5CP', 'score': 0.44}, {'connected_gene': 'ENSG00000259242', 'score': 0.39}, {'connected_gene': 'PBX4', 'score': 0.31}]
chr19	GH19I019530	19530512	19530661	0.46	[{'connected_gene': 'YJEFN3', 'score': 550.77}, {'connected_gene': 'PBX4', 'score': 11.95}, {'connected_gene': 'LPAR2', 'score': 11.94}, {'connected_gene': 'GMIP', 'score': 11.92}, {'connected_gene': 'ATP13A1', 'score': 11.9}, {'connected_gene': 'GC19M019535', 'score': 0.44}, {'connected_gene': 'ENSG00000258674', 'score': 0.39}]
chr19	GH19I019319	19319600	19322201	2.01	[{'connected_gene': 'MAU2', 'score': 564.64}, {'connected_gene': 'SUGP1', 'score': 552.15}, {'connected_gene': 'GATAD2A', 'score': 23.84}, {'connected_gene': 'ATP13A1', 'score': 15.13}, {'connected_gene': 'ENSG00000268938', 'score': 14.44}, {'connected_gene': 'ZNF506', 'score': 13.8}, {'connected_gene': 'ZNF14', 'score': 13.67}, {'connected_gene': 'MEF2B', 'score': 13.49}, {'connected_gene': 'NR2C2AP', 'score': 13.16}, {'connected_gene': 'ENSG00000268030', 'score': 12.36}, {'connected_gene': 'GMIP', 'score': 11.66}, {'connected_gene': 'ENSG00000267481', 'score': 10.94}, {'connected_gene': 'UPF1', 'score': 10.76}, {'connected_gene': 'ENSG00000269191', 'score': 10.6}, {'connected_gene': 'KXD1', 'score': 10.56}, {'connected_gene': 'YJEFN3', 'score': 4.57}, {'connected_gene': 'PBX4', 'score': 2.82}, {'connected_gene': 'NCAN', 'score': 2.22}, {'connected_gene': 'SUGP2', 'score': 1.58}, {'connected_gene': 'GC19M019332', 'score': 0.34}]
chr19	GH19I019605	19605472	19607508	1.13	[{'connected_gene': 'ENSG00000259242', 'score': 550.77}, {'connected_gene': 'LPAR2', 'score': 31.43}, {'connected_gene': 'GMIP', 'score': 13.44}, {'connected_gene': 'ATP13A1', 'score': 13.37}, {'connected_gene': 'GATAD2A', 'score': 8.24}, {'connected_gene': 'PBX4', 'score': 0.39}]
chr19	GH19I019580	19580552	19580701	0.2	[{'connected_gene': 'GC19M019588', 'score': 0.44}, {'connected_gene': 'GC19P020280', 'score': 0.44}, {'connected_gene': 'PBX4', 'score': 0.28}]
chr19	GH19I019587	19587705	19588978	0.2	[{'connected_gene': 'GC19M019588', 'score': 550.77}, {'connected_gene': 'PHF5CP', 'score': 550.77}, {'connected_gene': 'PBX4', 'score': 11.91}, {'connected_gene': 'LPAR2', 'score': 11.88}, {'connected_gene': 'GMIP', 'score': 11.84}, {'connected_gene': 'ATP13A1', 'score': 11.8}, {'connected_gene': 'GATAD2A', 'score': 7.25}, {'connected_gene': 'GC19P020280', 'score': 0.37}]