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
ENST00000557020	[[90862845, 90863002], [90866408, 90866439], [90867602, 90867746], [90870205, 90870312], [90870722, 90870840]]	[[90867676, 90867746], [90870205, 90870312], [90870722, 90870840]]
ENST00000356978	[[90863326, 90863577], [90866408, 90866439], [90867602, 90867746], [90870205, 90870312], [90870722, 90870858], [90871032, 90874605]]	[[90863574, 90863577], [90866408, 90866439], [90867602, 90867746], [90870205, 90870312], [90870722, 90870858], [90871032, 90871061]]
ENST00000447653	[[90863372, 90863577], [90865334, 90865431], [90866408, 90866439], [90867602, 90867746], [90870205, 90870312], [90870722, 90870858], [90871032, 90871416]]	[[90865425, 90865431], [90866408, 90866439], [90867602, 90867746], [90870205, 90870312], [90870722, 90870858], [90871032, 90871061]]
ENST00000555132	[[90863375, 90863577], [90864795, 90865147]]	None
ENST00000557123	[[90863375, 90863577], [90866408, 90866775]]	None
ENST00000556757	[[90863375, 90863577], [90866408, 90866439], [90867602, 90867957]]	None
ENST00000553995	[[90863375, 90863577], [90866408, 90866439], [90867602, 90867746], [90870205, 90870411]]	None
ENST00000553630	[[90863383, 90863577], [90866408, 90866439], [90867602, 90867746], [90870722, 90870858], [90871032, 90871947]]	[[90863574, 90863577], [90866408, 90866439], [90867602, 90867746], [90870722, 90870796]]
ENST00000553542	[[90863399, 90863498], [90866408, 90866439], [90867602, 90867746], [90870205, 90870312], [90870722, 90870858], [90871032, 90871392]]	[[90867676, 90867746], [90870205, 90870312], [90870722, 90870858], [90871032, 90871061]]
ENST00000553964	[[90864275, 90866439], [90867602, 90867746], [90870205, 90870312], [90870722, 90870858], [90871032, 90871151]]	None
ENST00000544280	[[90864605, 90864832], [90866408, 90866439], [90867602, 90867746], [90870205, 90870312], [90870722, 90870858], [90871032, 90871451]]	[[90867676, 90867746], [90870205, 90870312], [90870722, 90870858], [90871032, 90871061]]
ENST00000555267	[[90866321, 90866439], [90867602, 90867746], [90870205, 90870497]]	None
ENST00000553422	[[90867676, 90867746], [90870205, 90870312], [90870742, 90870858], [90871032, 90871177]]	[[90867676, 90867746], [90870205, 90870312], [90870742, 90870796]]
ENST00000554296	[[90869975, 90870312], [90870722, 90870858], [90871032, 90871090]]	None
ENST00000556721	[[90870511, 90870858], [90871032, 90871129]]	None
NM_006888	[[90863326, 90863577], [90866408, 90866439], [90867602, 90867746], [90870205, 90870312], [90870722, 90870858], [90871032, 90874619]]	[[90863574, 90863577], [90866408, 90866439], [90867602, 90867746], [90870205, 90870312], [90870722, 90870858], [90871032, 90871061]]

Promoter

Chrom	Start	End	Description
chr19	47104553	47104633	CAGE_peak_3_at_CALM1_5end,CAGE_peak_3_at_CALM2_5end,CAGE_peak_3_at_CALM3_5end
chr19	47105386	47105419	CAGE_peak_10_at_CALM2_5end,CAGE_peak_12_at_CALM3_5end,CAGE_peak_14_at_CALM1_5end
chr19	47111456	47111473	CAGE_peak_13_at_CALM2_5end,CAGE_peak_15_at_CALM3_5end,CAGE_peak_17_at_CALM1_5end
chr19	47111483	47111500	CAGE_peak_10_at_CALM3_5end,CAGE_peak_12_at_CALM1_5end,CAGE_peak_8_at_CALM2_5end
chr19	47111516	47111533	CAGE_peak_11_at_CALM2_5end,CAGE_peak_13_at_CALM3_5end,CAGE_peak_15_at_CALM1_5end
chr19	47111536	47111548	CAGE_peak_14_at_CALM2_5end,CAGE_peak_16_at_CALM3_5end,CAGE_peak_18_at_CALM1_5end
chr2	47335892	47335907	CAGE_peak_29_at_CALM2_5end,CAGE_peak_35_at_CALM3_5end,CAGE_peak_51_at_CALM1_5end
chr2	47335914	47335927	CAGE_peak_25_at_CALM2_5end,CAGE_peak_31_at_CALM3_5end,CAGE_peak_45_at_CALM1_5end
chr2	47403642	47403660	CAGE_peak_2_at_CALM1_5end,CAGE_peak_2_at_CALM2_5end,CAGE_peak_2_at_CALM3_5end
chr14	90863344	90863356	CAGE_peak_11_at_CALM3_5end,CAGE_peak_13_at_CALM1_5end,CAGE_peak_9_at_CALM2_5end
chr14	90863364	90863382	CAGE_peak_1_at_CALM1_5end,CAGE_peak_1_at_CALM2_5end,CAGE_peak_1_at_CALM3_5end
chr14	90864504	90864518	CAGE_peak_18_at_CALM2_5end,CAGE_peak_23_at_CALM3_5end,CAGE_peak_29_at_CALM1_5end
chr14	90864738	90864762	CAGE_peak_39_at_CALM1_5end
chr14	90867595	90867626	CAGE_peak_12_at_CALM2_5end,CAGE_peak_14_at_CALM3_5end,CAGE_peak_16_at_CALM1_5end
chr14	90867659	90867699	CAGE_peak_4_at_CALM2_5end,CAGE_peak_5_at_CALM3_5end,CAGE_peak_7_at_CALM1_5end
chr14	90870200	90870249	CAGE_peak_5_at_CALM2_5end,CAGE_peak_6_at_CALM3_5end,CAGE_peak_8_at_CALM1_5end
chr14	90870714	90870738	CAGE_peak_6_at_CALM2_5end,CAGE_peak_7_at_CALM3_5end,CAGE_peak_9_at_CALM1_5end
chr14	90871053	90871096	CAGE_peak_5_at_CALM1_5end
chr14	90871171	90871216	CAGE_peak_22_at_CALM1_5end
chr14	90871353	90871384	CAGE_peak_27_at_CALM1_5end
chr14	90871860	90871867	CAGE_peak_37_at_CALM1_5end
chr14	90871924	90871936	CAGE_peak_6_at_CALM1_5end
chr14	90872173	90872184	CAGE_peak_19_at_CALM1_5end
chr14	90872343	90872352	CAGE_peak_20_at_CALM1_5end
chr14	90872414	90872425	CAGE_peak_10_at_CALM1_5end
chr14	90872445	90872456	CAGE_peak_24_at_CALM1_5end
chr14	90872497	90872510	CAGE_peak_4_at_CALM1_5end
chr14	90873274	90873290	CAGE_peak_43_at_CALM1_5end
chr14	90873362	90873373	CAGE_peak_54_at_CALM1_5end
chr14	90873536	90873555	CAGE_peak_30_at_CALM1_5end
chr14	90873567	90873588	CAGE_peak_32_at_CALM1_5end
chr14	90873817	90873844	CAGE_peak_25_at_CALM1_5end
chr14	90873859	90873886	CAGE_peak_41_at_CALM1_5end
chr14	90874043	90874058	CAGE_peak_28_at_CALM1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I090368	90368954	90370190	0.85	[{'connected_gene': 'CALM1', 'score': 11.91}, {'connected_gene': 'NRDE2', 'score': 10.98}, {'connected_gene': 'KCNK13', 'score': 4.57}, {'connected_gene': 'RPL21P11', 'score': 0.77}, {'connected_gene': 'GC14P090384', 'score': 0.39}]
chr14	GH14I090396	90396201	90401026	2.31	[{'connected_gene': 'CALM1', 'score': 556.55}, {'connected_gene': 'GC14P090397', 'score': 550.77}, {'connected_gene': 'GC14P090398', 'score': 550.77}, {'connected_gene': 'NRDE2', 'score': 31.31}, {'connected_gene': 'RPS18P2', 'score': 10.3}, {'connected_gene': 'ENSG00000258424', 'score': 0.44}, {'connected_gene': 'GC14M092134', 'score': 0.18}]
chr14	GH14I090692	90692850	90694303	0.6	[{'connected_gene': 'CALM1', 'score': 11.46}, {'connected_gene': 'NRDE2', 'score': 10.4}, {'connected_gene': 'LOC105370622', 'score': 6.76}, {'connected_gene': 'GC14P090691', 'score': 0.77}, {'connected_gene': 'TTC7B', 'score': 0.13}]
chr14	GH14I090694	90694317	90694466	0.31	[{'connected_gene': 'CALM1', 'score': 11.46}, {'connected_gene': 'NRDE2', 'score': 10.4}, {'connected_gene': 'GC14P090691', 'score': 0.77}, {'connected_gene': 'LOC105370622', 'score': 0.77}, {'connected_gene': 'TTC7B', 'score': 0.13}]
chr14	GH14I090416	90416600	90417359	0.49	[{'connected_gene': 'CALM1', 'score': 11.57}, {'connected_gene': 'NRDE2', 'score': 10.08}, {'connected_gene': 'ENSG00000258424', 'score': 0.39}, {'connected_gene': 'LINC02317', 'score': 0.28}, {'connected_gene': 'GC14M092134', 'score': 0.21}]
chr14	GH14I090429	90429138	90430853	0.52	[{'connected_gene': 'CALM1', 'score': 11.29}, {'connected_gene': 'NRDE2', 'score': 9.96}, {'connected_gene': 'ENSG00000258424', 'score': 0.34}, {'connected_gene': 'LINC02317', 'score': 0.31}, {'connected_gene': 'GC14M092134', 'score': 0.25}]
chr14	GH14I090554	90554357	90554691	0.77	[{'connected_gene': 'CALM1', 'score': 3.99}, {'connected_gene': 'GC14M092120', 'score': 0.44}, {'connected_gene': 'LOC105370620', 'score': 0.37}, {'connected_gene': 'TTC7B', 'score': 0.07}]
chr14	GH14I090439	90439603	90440886	0.43	[{'connected_gene': 'CALM1', 'score': 11.26}, {'connected_gene': 'LINC02317', 'score': 0.39}, {'connected_gene': 'ENSG00000258424', 'score': 0.28}, {'connected_gene': 'GC14M092134', 'score': 0.28}]
chr14	GH14I090401	90401337	90401506	0.58	[{'connected_gene': 'CALM1', 'score': 0.77}, {'connected_gene': 'GC14P090397', 'score': 0.77}, {'connected_gene': 'ENSG00000258424', 'score': 0.77}, {'connected_gene': 'GC14P090398', 'score': 0.77}, {'connected_gene': 'GC14M092134', 'score': 0.18}]
chr14	GH14I090395	90395034	90395885	0.2	[{'connected_gene': 'CALM1', 'score': 555.87}, {'connected_gene': 'GC14P090397', 'score': 550.77}, {'connected_gene': 'GC14P090398', 'score': 550.77}, {'connected_gene': 'ENSG00000275198', 'score': 0.39}]
chr14	GH14I090386	90386979	90388990	1.28	[{'connected_gene': 'CALM1', 'score': 5.67}, {'connected_gene': 'ENSG00000275198', 'score': 0.77}]
chr14	GH14I090757	90757518	90760008	1.56	[{'connected_gene': 'PPP4R3A', 'score': 25.74}, {'connected_gene': 'TTC7B', 'score': 20.96}, {'connected_gene': 'NRDE2', 'score': 17.64}, {'connected_gene': 'CALM1', 'score': 17.46}, {'connected_gene': 'RPS18P2', 'score': 10.91}, {'connected_gene': 'DGLUCY', 'score': 1.68}, {'connected_gene': 'GC14P090745', 'score': 0.39}]
chr14	GH14I090300	90300600	90305882	1.2	[{'connected_gene': 'NRDE2', 'score': 18.15}, {'connected_gene': 'CALM1', 'score': 15.44}, {'connected_gene': 'KCNK13', 'score': 8.93}, {'connected_gene': 'PIR47953', 'score': 0.44}, {'connected_gene': 'PIR41665', 'score': 0.39}]
chr14	GH14I090298	90298500	90300342	1.22	[{'connected_gene': 'NRDE2', 'score': 16.86}, {'connected_gene': 'CALM1', 'score': 4.94}, {'connected_gene': 'KCNK13', 'score': 3.38}, {'connected_gene': 'PIR47953', 'score': 0.39}, {'connected_gene': 'PIR41665', 'score': 0.39}]
chr14	GH14I090555	90555537	90557326	1.41	[{'connected_gene': 'NRDE2', 'score': 10.12}, {'connected_gene': 'ENSG00000258875', 'score': 4.58}, {'connected_gene': 'CALM1', 'score': 1.48}, {'connected_gene': 'TTC7B', 'score': 1.24}, {'connected_gene': 'GC14M092120', 'score': 0.44}, {'connected_gene': 'LOC105370620', 'score': 0.37}]
chr14	GH14I090407	90407796	90410474	1.28	[{'connected_gene': 'NRDE2', 'score': 10.35}, {'connected_gene': 'ENSG00000258424', 'score': 0.77}, {'connected_gene': 'CALM1', 'score': 0.39}, {'connected_gene': 'LINC02317', 'score': 0.25}, {'connected_gene': 'GC14M092134', 'score': 0.2}]
chr14	GH14I090307	90307706	90310424	0.56	[{'connected_gene': 'NRDE2', 'score': 16.43}, {'connected_gene': 'CALM1', 'score': 4.65}, {'connected_gene': 'PIR47953', 'score': 0.77}, {'connected_gene': 'PIR41665', 'score': 0.34}]
chr14	GH14I090280	90280537	90282345	0.66	[{'connected_gene': 'NRDE2', 'score': 15.86}, {'connected_gene': 'PSMC1', 'score': 12.33}, {'connected_gene': 'CALM1', 'score': 4.93}, {'connected_gene': 'GC14M092131', 'score': 0.77}, {'connected_gene': 'PIR51620', 'score': 0.44}]
chr14	GH14I090418	90418439	90420216	1.16	[{'connected_gene': 'RPS18P2', 'score': 11.73}, {'connected_gene': 'CALM1', 'score': 11.7}, {'connected_gene': 'RPL21P11', 'score': 10.51}, {'connected_gene': 'NRDE2', 'score': 9.81}, {'connected_gene': 'ENSG00000258424', 'score': 0.39}, {'connected_gene': 'LINC02317', 'score': 0.28}, {'connected_gene': 'GC14M092134', 'score': 0.22}]
chr14	GH14I090604	90604927	90606206	0.83	[{'connected_gene': 'TTC7B', 'score': 1.33}, {'connected_gene': 'CALM1', 'score': 1.28}, {'connected_gene': 'RPS6KA5', 'score': 1.21}, {'connected_gene': 'LOC102724444', 'score': 0.44}, {'connected_gene': 'ENSG00000258935', 'score': 0.28}]
chr14	GH14I090696	90696058	90699468	1.11	[{'connected_gene': 'LOC105370622', 'score': 556.84}, {'connected_gene': 'NRDE2', 'score': 22.01}, {'connected_gene': 'RPL21P11', 'score': 12.5}, {'connected_gene': 'CALM1', 'score': 11.46}, {'connected_gene': 'PPP4R3A', 'score': 10.51}, {'connected_gene': 'TTC7B', 'score': 10.45}, {'connected_gene': 'GC14M092128', 'score': 0.31}]
chr14	GH14I090405	90405119	90406808	0.84	[{'connected_gene': 'ENSG00000258424', 'score': 550.77}, {'connected_gene': 'CALM1', 'score': 4.78}, {'connected_gene': 'LINC02317', 'score': 0.25}, {'connected_gene': 'GC14M092134', 'score': 0.19}]
chr14	GH14I090408	90407137	90407286	0.4	[{'connected_gene': 'ENSG00000258424', 'score': 550.77}, {'connected_gene': 'CALM1', 'score': 0.39}, {'connected_gene': 'LINC02317', 'score': 0.25}, {'connected_gene': 'GC14M092134', 'score': 0.19}]
chr14	GH14I090402	90402137	90402346	0.58	[{'connected_gene': 'ENSG00000258424', 'score': 0.77}, {'connected_gene': 'CALM1', 'score': 0.44}, {'connected_gene': 'GC14P090397', 'score': 0.44}, {'connected_gene': 'GC14P090398', 'score': 0.44}, {'connected_gene': 'GC14M092134', 'score': 0.18}]
chr14	GH14I090380	90380312	90386146	1.83	[{'connected_gene': 'GC14P090384', 'score': 550.77}, {'connected_gene': 'ENSG00000275198', 'score': 550.77}, {'connected_gene': 'NRDE2', 'score': 10.86}, {'connected_gene': 'CALM1', 'score': 6.34}, {'connected_gene': 'ENSG00000258424', 'score': 5.05}, {'connected_gene': 'KCNK13', 'score': 4.58}, {'connected_gene': 'RPL21P11', 'score': 0.37}]
chr14	GH14I090289	90289859	90291251	0.2	[{'connected_gene': 'PIR41665', 'score': 550.77}, {'connected_gene': 'NRDE2', 'score': 15.49}, {'connected_gene': 'CALM1', 'score': 10.82}, {'connected_gene': 'KCNK13', 'score': 7.17}, {'connected_gene': 'PIR47953', 'score': 0.34}]
chr14	GH14I090660	90660757	90661600	0.97	[{'connected_gene': 'GC14P090664', 'score': 550.77}, {'connected_gene': 'TTC7B', 'score': 10.28}, {'connected_gene': 'RPS6KA5', 'score': 2.11}, {'connected_gene': 'CALM1', 'score': 1.83}, {'connected_gene': 'LOC101928909', 'score': 0.37}]