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
ENST00000407008	[[26369181, 26370357], [26449628, 26449758], [26459645, 26459701], [26488185, 26488292], [26490568, 26490654], [26495473, 26495683], [26499542, 26499644], [26512204, 26512291], [26518046, 26518245], [26519145, 26519239], [26521607, 26523407]]	[[26369899, 26370357], [26449628, 26449758], [26459645, 26459701], [26488185, 26488292], [26490568, 26490654], [26495473, 26495683], [26499542, 26499644], [26512204, 26512291], [26518046, 26518245], [26519145, 26519239], [26521607, 26521662]]
ENST00000496808	[[26370055, 26370357], [26449628, 26449758], [26459645, 26459701], [26488185, 26488292], [26490568, 26490654], [26495473, 26495683], [26499542, 26499644], [26512204, 26512291], [26518046, 26518245], [26519145, 26519239], [26521607, 26521734], [26523205, 26523407]]	[[26370055, 26370357], [26449628, 26449758], [26459645, 26459701], [26488185, 26488292], [26490568, 26490654], [26495473, 26495683], [26499542, 26499644], [26512204, 26512291], [26518046, 26518245], [26519145, 26519239], [26521607, 26521662]]
ENST00000583517	[[26368762, 26368805], [26370113, 26370357], [26374942, 26375350]]	None
ENST00000582037	[[26369864, 26370357], [26374942, 26375950]]	[[26369899, 26370357], [26374942, 26375030]]
ENST00000584188	[[26498258, 26498368], [26499542, 26499644], [26512204, 26512291], [26518046, 26518198]]	None
ENST00000584878	[[26517966, 26518245], [26519145, 26519239], [26521607, 26522011]]	None
NM_016231	[[26369687, 26370357], [26449628, 26449758], [26459645, 26459701], [26488185, 26488292], [26490568, 26490654], [26495473, 26495683], [26499542, 26499644], [26512204, 26512291], [26518046, 26518245], [26519145, 26519239], [26521607, 26523407]]	[[26369899, 26370357], [26449628, 26449758], [26459645, 26459701], [26488185, 26488292], [26490568, 26490654], [26495473, 26495683], [26499542, 26499644], [26512204, 26512291], [26518046, 26518245], [26519145, 26519239], [26521607, 26521662]]

Promoter

Chrom	Start	End	Description
chr17	26368734	26368794	CAGE_peak_1_at_NLK_5end
chr17	26368915	26368936	CAGE_peak_3_at_NLK_5end
chr17	26369560	26369599	CAGE_peak_5_at_NLK_5end
chr17	26369607	26369619	CAGE_peak_11_at_NLK_5end
chr17	26369687	26369715	CAGE_peak_2_at_NLK_5end
chr17	26369879	26369904	CAGE_peak_13_at_NLK_5end
chr17	26369941	26370011	CAGE_peak_4_at_NLK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I028111	28111753	28113428	0.83	[{'connected_gene': 'VTN', 'score': 5.24}, {'connected_gene': 'RPS29P22', 'score': 0.77}, {'connected_gene': 'GC17M028077', 'score': 0.31}, {'connected_gene': 'NLK', 'score': 0.19}]
chr17	GH17I028071	28071828	28072664	0.59	[{'connected_gene': 'SUPT6H', 'score': 14.64}, {'connected_gene': 'ENSG00000264577', 'score': 11.5}, {'connected_gene': 'ITM2BP1', 'score': 10.49}, {'connected_gene': 'IFT20', 'score': 10.19}, {'connected_gene': 'TMEM199', 'score': 9.96}, {'connected_gene': 'ENSG00000252283', 'score': 0.39}, {'connected_gene': 'GC17M028077', 'score': 0.39}, {'connected_gene': 'NLK', 'score': 0.29}]
chr17	GH17I028033	28033366	28035205	1.11	[{'connected_gene': 'NLK', 'score': 6.05}, {'connected_gene': 'PYY2', 'score': 4.78}, {'connected_gene': 'LOC105371709', 'score': 0.44}, {'connected_gene': 'ENSG00000202389', 'score': 0.39}, {'connected_gene': 'GC17M028023', 'score': 0.39}]
chr17	GH17I027982	27982672	27983530	0.62	[{'connected_gene': 'NLK', 'score': 11.35}, {'connected_gene': 'ENSG00000251818', 'score': 11.12}, {'connected_gene': 'ENSG00000202389', 'score': 11.12}, {'connected_gene': 'LYRM9', 'score': 10.18}, {'connected_gene': 'PYY2', 'score': 7.11}, {'connected_gene': 'LGALS9', 'score': 4.75}, {'connected_gene': 'LINC01992', 'score': 0.44}, {'connected_gene': 'GC17M027891', 'score': 0.17}]
chr17	GH17I028040	28040574	28044925	2	[{'connected_gene': 'NLK', 'score': 556.4}, {'connected_gene': 'LOC105371709', 'score': 550.77}, {'connected_gene': 'LOC102724517', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 19.71}, {'connected_gene': 'ITM2BP1', 'score': 12.54}, {'connected_gene': 'LOC101927018', 'score': 12.36}, {'connected_gene': 'PHF12', 'score': 11.83}, {'connected_gene': 'ENSG00000251818', 'score': 11.52}, {'connected_gene': 'ENSG00000202389', 'score': 11.52}, {'connected_gene': 'SARM1', 'score': 10.83}, {'connected_gene': 'TMEM199', 'score': 10.53}]
chr17	GH17I028118	28118001	28119200	0.38	[{'connected_gene': 'PYY2', 'score': 4.33}, {'connected_gene': 'RPS29P22', 'score': 0.77}, {'connected_gene': 'LOC105371711', 'score': 0.39}, {'connected_gene': 'NLK', 'score': 0.18}]
chr17	GH17I027984	27984497	27987907	1.61	[{'connected_gene': 'LYRM9', 'score': 15.36}, {'connected_gene': 'NLK', 'score': 13.86}, {'connected_gene': 'ENSG00000251818', 'score': 11.14}, {'connected_gene': 'ENSG00000202389', 'score': 11.12}, {'connected_gene': 'LINC01992', 'score': 0.44}, {'connected_gene': 'GC17M027891', 'score': 0.16}]
chr17	GH17I028039	28039091	28039471	0.46	[{'connected_gene': 'LYRM9', 'score': 10.67}, {'connected_gene': 'LOC105371709', 'score': 0.77}, {'connected_gene': 'NLK', 'score': 0.77}, {'connected_gene': 'ENSG00000202389', 'score': 0.37}, {'connected_gene': 'GC17M028023', 'score': 0.37}]
chr17	GH17I028172	28172356	28175181	1.21	[{'connected_gene': 'TMEM199', 'score': 11.68}, {'connected_gene': 'SUPT6H', 'score': 10.62}, {'connected_gene': 'SGK494', 'score': 10.52}, {'connected_gene': 'LYRM9', 'score': 10.28}, {'connected_gene': 'LOC105371710', 'score': 0.28}, {'connected_gene': 'GC17M028133', 'score': 0.28}, {'connected_gene': 'NLK', 'score': 0.12}]
chr17	GH17I028188	28188915	28190466	0.88	[{'connected_gene': 'TMEM199', 'score': 11.69}, {'connected_gene': 'TMEM97', 'score': 4.8}, {'connected_gene': 'LOC105371710', 'score': 0.34}, {'connected_gene': 'GC17M028133', 'score': 0.22}, {'connected_gene': 'NLK', 'score': 0.11}]
chr17	GH17I028194	28194638	28194897	0.4	[{'connected_gene': 'LOC105371710', 'score': 0.37}, {'connected_gene': 'GC17M028133', 'score': 0.21}, {'connected_gene': 'NLK', 'score': 0.1}]
chr17	GH17I027980	27980000	27982177	1.14	[{'connected_gene': 'ENSG00000251818', 'score': 11.71}, {'connected_gene': 'ENSG00000202389', 'score': 11.7}, {'connected_gene': 'NLK', 'score': 7.0}, {'connected_gene': 'PYY2', 'score': 6.56}, {'connected_gene': 'TNFAIP1', 'score': 1.26}, {'connected_gene': 'LINC01992', 'score': 0.39}, {'connected_gene': 'GC17M027891', 'score': 0.17}, {'connected_gene': 'LYRM9', 'score': 0.17}]
chr17	GH17I028029	28029139	28031155	0.76	[{'connected_gene': 'ENSG00000202389', 'score': 0.44}, {'connected_gene': 'GC17M028023', 'score': 0.44}, {'connected_gene': 'NLK', 'score': 0.39}]
chr17	GH17I028065	28065201	28066400	0.49	[{'connected_gene': 'ENSG00000252283', 'score': 0.77}, {'connected_gene': 'GC17M028077', 'score': 0.37}, {'connected_gene': 'NLK', 'score': 0.34}]
chr17	GH17I028081	28081099	28082059	0.56	[{'connected_gene': 'GC17M028077', 'score': 0.77}, {'connected_gene': 'ENSG00000252283', 'score': 0.37}, {'connected_gene': 'NLK', 'score': 0.28}]
chr17	GH17I027991	27991996	27997105	0.68	[{'connected_gene': 'ENSG00000251818', 'score': 11.7}, {'connected_gene': 'ENSG00000202389', 'score': 11.67}, {'connected_gene': 'LYRM9', 'score': 10.44}, {'connected_gene': 'SPAG5-AS1', 'score': 9.7}, {'connected_gene': 'LGALS9', 'score': 4.75}, {'connected_gene': 'NLK', 'score': 4.5}, {'connected_gene': 'SLC46A1', 'score': 4.46}, {'connected_gene': 'LINC01992', 'score': 0.77}, {'connected_gene': 'GC17P028019', 'score': 0.34}]
chr17	GH17I028132	28132815	28134760	0.74	[{'connected_gene': 'GC17M028133', 'score': 550.77}, {'connected_gene': 'LOC105371711', 'score': 550.77}, {'connected_gene': 'ENSG00000202389', 'score': 11.12}, {'connected_gene': 'ENSG00000251818', 'score': 11.11}, {'connected_gene': 'NLK', 'score': 0.16}]
chr17	GH17I028053	28053001	28053200	0.31	[{'connected_gene': 'ENSG00000251818', 'score': 10.74}, {'connected_gene': 'ENSG00000202389', 'score': 10.74}, {'connected_gene': 'LOC102724517', 'score': 0.44}, {'connected_gene': 'ENSG00000252283', 'score': 0.44}, {'connected_gene': 'NLK', 'score': 0.39}]
chr17	GH17I028057	28057002	28059059	1.04	[{'connected_gene': 'ENSG00000251818', 'score': 11.23}, {'connected_gene': 'ENSG00000202389', 'score': 11.23}, {'connected_gene': 'ENSG00000252283', 'score': 0.77}, {'connected_gene': 'LOC102724517', 'score': 0.39}, {'connected_gene': 'NLK', 'score': 0.37}]
chr17	GH17I028046	28046001	28046200	0.64	[{'connected_gene': 'ENSG00000202389', 'score': 10.79}, {'connected_gene': 'ENSG00000251818', 'score': 10.76}, {'connected_gene': 'LOC102724517', 'score': 0.77}, {'connected_gene': 'NLK', 'score': 0.77}, {'connected_gene': 'ENSG00000252283', 'score': 0.37}]
chr17	GH17I028047	28046601	28046800	0.7	[{'connected_gene': 'ENSG00000202389', 'score': 10.79}, {'connected_gene': 'ENSG00000251818', 'score': 10.76}, {'connected_gene': 'LOC102724517', 'score': 0.77}, {'connected_gene': 'NLK', 'score': 0.77}, {'connected_gene': 'ENSG00000252283', 'score': 0.37}]