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
ENST00000254227	[[27237979, 27238577], [27239899, 27240457]]	[[27238335, 27238577], [27239899, 27240431]]
NM_021969	[[27237974, 27238577], [27239899, 27240567]]	[[27238335, 27238577], [27239899, 27240431]]

Promoter

Chrom	Start	End	Description
chr1	27240046	27240053	CAGE_peak_8_at_NR0B2_5end
chr1	27240078	27240086	CAGE_peak_7_at_NR0B2_5end
chr1	27240361	27240377	CAGE_peak_2_at_NR0B2_5end
chr1	27240455	27240474	CAGE_peak_1_at_NR0B2_5end
chr1	27240553	27240564	CAGE_peak_3_at_NR0B2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I026909	26909451	26916474	1.95	[{'connected_gene': 'NR0B2', 'score': 554.94}, {'connected_gene': 'PIGV', 'score': 13.13}, {'connected_gene': 'LOC101928324', 'score': 12.73}, {'connected_gene': 'ZDHHC18', 'score': 12.12}, {'connected_gene': 'ENSG00000226698', 'score': 10.98}, {'connected_gene': 'LIN28A', 'score': 10.88}, {'connected_gene': 'LOC101928728', 'score': 10.83}, {'connected_gene': 'TRNP1', 'score': 7.98}, {'connected_gene': 'ARID1A', 'score': 6.87}, {'connected_gene': 'KDF1', 'score': 5.7}, {'connected_gene': 'GPATCH3', 'score': 0.39}, {'connected_gene': 'NUDC', 'score': 0.39}]
chr1	GH01I026977	26977482	26978310	0.38	[{'connected_gene': 'NR0B2', 'score': 16.22}, {'connected_gene': 'FAM46B', 'score': 11.88}, {'connected_gene': 'NUDC', 'score': 11.73}, {'connected_gene': 'GPATCH3', 'score': 10.64}, {'connected_gene': 'LOC105376890', 'score': 10.02}, {'connected_gene': 'WDTC1', 'score': 10.02}, {'connected_gene': 'RPL12P13', 'score': 0.77}, {'connected_gene': 'GC01P026975', 'score': 0.77}]
chr1	GH01I026944	26944389	26944681	0.82	[{'connected_gene': 'NR0B2', 'score': 12.51}, {'connected_gene': 'NUDC', 'score': 12.48}, {'connected_gene': 'PIGV', 'score': 11.5}, {'connected_gene': 'GPATCH3', 'score': 10.97}, {'connected_gene': 'ENSG00000226698', 'score': 10.35}, {'connected_gene': 'ACTG1P20', 'score': 9.44}, {'connected_gene': 'TMEM222', 'score': 9.44}, {'connected_gene': 'RNU6-48P', 'score': 9.44}, {'connected_gene': 'LOC105376890', 'score': 9.34}, {'connected_gene': 'WDTC1', 'score': 9.34}, {'connected_gene': 'KDF1', 'score': 7.47}]
chr1	GH01I026945	26944999	26947598	0.72	[{'connected_gene': 'NR0B2', 'score': 12.51}, {'connected_gene': 'NUDC', 'score': 12.46}, {'connected_gene': 'PIGV', 'score': 11.5}, {'connected_gene': 'GPATCH3', 'score': 10.96}, {'connected_gene': 'ENSG00000226698', 'score': 10.34}, {'connected_gene': 'ACTG1P20', 'score': 9.44}, {'connected_gene': 'RNU6-48P', 'score': 9.44}, {'connected_gene': 'TMEM222', 'score': 9.44}, {'connected_gene': 'LOC105376890', 'score': 9.34}, {'connected_gene': 'WDTC1', 'score': 9.34}, {'connected_gene': 'ARID1A', 'score': 4.3}, {'connected_gene': 'SLC9A1', 'score': 4.09}, {'connected_gene': 'KDF1', 'score': 0.39}]
chr1	GH01I026966	26966963	26967659	0.85	[{'connected_gene': 'NR0B2', 'score': 11.82}, {'connected_gene': 'NUDC', 'score': 11.8}, {'connected_gene': 'FAM46B', 'score': 11.43}, {'connected_gene': 'GPATCH3', 'score': 10.89}, {'connected_gene': 'SFN', 'score': 9.98}, {'connected_gene': 'LOC105376890', 'score': 9.85}, {'connected_gene': 'WDTC1', 'score': 9.85}, {'connected_gene': 'ACTG1P20', 'score': 9.48}, {'connected_gene': 'RNU6-48P', 'score': 9.48}, {'connected_gene': 'TMEM222', 'score': 9.48}, {'connected_gene': 'GC01P026960', 'score': 0.44}, {'connected_gene': 'GC01P026975', 'score': 0.44}]
chr1	GH01I026906	26906894	26908452	1.2	[{'connected_gene': 'ZDHHC18', 'score': 12.13}, {'connected_gene': 'ENSG00000226698', 'score': 10.99}, {'connected_gene': 'NUDC', 'score': 0.44}, {'connected_gene': 'GPATCH3', 'score': 0.44}, {'connected_gene': 'NR0B2', 'score': 0.44}]
chr1	GH01I026939	26939669	26940925	0.2	[{'connected_gene': 'GPATCH3', 'score': 11.48}, {'connected_gene': 'NUDC', 'score': 11.47}, {'connected_gene': 'FAM46B', 'score': 10.96}, {'connected_gene': 'ENSG00000226698', 'score': 10.72}, {'connected_gene': 'SFN', 'score': 10.23}, {'connected_gene': 'KDF1', 'score': 0.34}, {'connected_gene': 'NR0B2', 'score': 0.31}]
chr1	GH01I026990	26990134	27003452	2.74	[{'connected_gene': 'TRNP1', 'score': 560.01}, {'connected_gene': 'PIGV', 'score': 12.53}, {'connected_gene': 'NR0B2', 'score': 11.52}, {'connected_gene': 'NUDC', 'score': 11.5}, {'connected_gene': 'GPATCH3', 'score': 10.67}, {'connected_gene': 'KDF1', 'score': 8.09}, {'connected_gene': 'FAM46B', 'score': 1.75}, {'connected_gene': 'TMEM222', 'score': 1.65}]
chr1	GH01I026856	26856943	26866542	2.64	[{'connected_gene': 'SFN', 'score': 553.85}, {'connected_gene': 'ARID1A', 'score': 80.58}, {'connected_gene': 'HMGN2', 'score': 37.91}, {'connected_gene': 'LOC101928324', 'score': 33.2}, {'connected_gene': 'GPATCH3', 'score': 31.49}, {'connected_gene': 'LOC101928728', 'score': 22.26}, {'connected_gene': 'ACTG1P20', 'score': 21.5}, {'connected_gene': 'ENSG00000231344', 'score': 18.14}, {'connected_gene': 'NPM1P39', 'score': 15.84}, {'connected_gene': 'PIGV', 'score': 14.75}, {'connected_gene': 'RPS6KA1', 'score': 14.31}, {'connected_gene': 'GPN2', 'score': 13.65}, {'connected_gene': 'NUDC', 'score': 13.56}, {'connected_gene': 'ZDHHC18', 'score': 13.08}, {'connected_gene': 'RPL17P9', 'score': 11.94}, {'connected_gene': 'WASF2', 'score': 10.4}, {'connected_gene': 'FAM76A', 'score': 10.34}, {'connected_gene': 'NR0B2', 'score': 4.68}, {'connected_gene': 'ZNF683', 'score': 3.6}, {'connected_gene': 'KDF1', 'score': 3.56}, {'connected_gene': 'FAM46B', 'score': 1.46}, {'connected_gene': 'GC01P026859', 'score': 0.77}]
chr1	GH01I026904	26904162	26904749	1.04	[{'connected_gene': 'FAM76A', 'score': 64.45}, {'connected_gene': 'ARID1A', 'score': 61.79}, {'connected_gene': 'ACTG1P20', 'score': 56.34}, {'connected_gene': 'HMGN2', 'score': 46.63}, {'connected_gene': 'GPN2', 'score': 43.52}, {'connected_gene': 'LOC101928324', 'score': 41.65}, {'connected_gene': 'LOC101928728', 'score': 32.62}, {'connected_gene': 'MAP3K6', 'score': 23.29}, {'connected_gene': 'RPL17P9', 'score': 12.47}, {'connected_gene': 'ENSG00000231344', 'score': 11.4}, {'connected_gene': 'NPM1P39', 'score': 11.19}, {'connected_gene': 'ZNF593', 'score': 11.17}, {'connected_gene': 'ENSG00000226698', 'score': 11.01}, {'connected_gene': 'TMEM222', 'score': 10.83}, {'connected_gene': 'PIGV', 'score': 10.55}, {'connected_gene': 'GPATCH3', 'score': 0.77}, {'connected_gene': 'NUDC', 'score': 0.77}, {'connected_gene': 'NR0B2', 'score': 0.44}]
chr1	GH01I026958	26958880	26962804	2.39	[{'connected_gene': 'KDF1', 'score': 550.77}, {'connected_gene': 'GC01P026960', 'score': 550.77}, {'connected_gene': 'PIGV', 'score': 13.22}, {'connected_gene': 'NR0B2', 'score': 12.17}, {'connected_gene': 'NUDC', 'score': 12.13}, {'connected_gene': 'FAM46B', 'score': 11.42}, {'connected_gene': 'GPATCH3', 'score': 10.98}, {'connected_gene': 'ENSG00000226698', 'score': 10.23}, {'connected_gene': 'SFN', 'score': 10.11}, {'connected_gene': 'LOC105376890', 'score': 9.85}, {'connected_gene': 'WDTC1', 'score': 9.85}, {'connected_gene': 'ACTG1P20', 'score': 9.48}, {'connected_gene': 'RNU6-48P', 'score': 9.48}, {'connected_gene': 'TMEM222', 'score': 9.48}, {'connected_gene': 'HMGN2', 'score': 8.66}, {'connected_gene': 'GC01P026975', 'score': 0.39}]
chr1	GH01I026976	26976467	26977220	0.69	[{'connected_gene': 'FAM46B', 'score': 11.86}, {'connected_gene': 'NR0B2', 'score': 11.76}, {'connected_gene': 'NUDC', 'score': 11.73}, {'connected_gene': 'GPATCH3', 'score': 10.64}, {'connected_gene': 'LOC105376890', 'score': 10.02}, {'connected_gene': 'WDTC1', 'score': 10.02}, {'connected_gene': 'PIGV', 'score': 9.86}, {'connected_gene': 'RPL12P13', 'score': 0.77}, {'connected_gene': 'GC01P026975', 'score': 0.77}]
chr1	GH01I026920	26920791	26924428	2.27	[{'connected_gene': 'NUDC', 'score': 550.34}, {'connected_gene': 'ARID1A', 'score': 47.33}, {'connected_gene': 'ACTG1P20', 'score': 38.95}, {'connected_gene': 'FAM76A', 'score': 30.84}, {'connected_gene': 'PIGV', 'score': 25.49}, {'connected_gene': 'NPM1P39', 'score': 25.49}, {'connected_gene': 'MAP3K6', 'score': 21.46}, {'connected_gene': 'LOC101928728', 'score': 21.04}, {'connected_gene': 'ENSG00000231344', 'score': 19.19}, {'connected_gene': 'HMGN2', 'score': 18.31}, {'connected_gene': 'ZNF593', 'score': 13.56}, {'connected_gene': 'LOC101928324', 'score': 13.09}, {'connected_gene': 'ZDHHC18', 'score': 12.11}, {'connected_gene': 'GPN2', 'score': 11.87}, {'connected_gene': 'AHDC1', 'score': 10.18}, {'connected_gene': 'NR0B2', 'score': 0.44}, {'connected_gene': 'KDF1', 'score': 0.28}]
chr1	GH01I026937	26937777	26938962	0.91	[{'connected_gene': 'NUDC', 'score': 11.74}, {'connected_gene': 'GPATCH3', 'score': 11.74}, {'connected_gene': 'FAM46B', 'score': 10.96}, {'connected_gene': 'ENSG00000226698', 'score': 10.72}, {'connected_gene': 'SFN', 'score': 10.23}, {'connected_gene': 'PIGV', 'score': 10.16}, {'connected_gene': 'KDF1', 'score': 0.34}, {'connected_gene': 'NR0B2', 'score': 0.34}]
chr1	GH01I026973	26973589	26974227	0.38	[{'connected_gene': 'GC01P026975', 'score': 550.77}, {'connected_gene': 'FAM46B', 'score': 11.86}, {'connected_gene': 'NR0B2', 'score': 11.77}, {'connected_gene': 'NUDC', 'score': 11.74}, {'connected_gene': 'GPATCH3', 'score': 11.1}, {'connected_gene': 'WDTC1', 'score': 10.01}, {'connected_gene': 'LOC105376890', 'score': 10.01}, {'connected_gene': 'GC01P026960', 'score': 0.39}]
chr1	GH01I026907	26906410	26906559	0.38	[{'connected_gene': 'ENSG00000226698', 'score': 10.99}, {'connected_gene': 'NUDC', 'score': 0.44}, {'connected_gene': 'GPATCH3', 'score': 0.44}, {'connected_gene': 'NR0B2', 'score': 0.44}]