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
ENST00000475381	[[172348038, 172351882], [172353705, 172353877], [172363412, 172363482], [172365675, 172365904], [172428636, 172429008]]	[[172351264, 172351882], [172353705, 172353877], [172363412, 172363482], [172365675, 172365904], [172428636, 172428774]]
ENST00000543711	[[172348434, 172351882], [172353705, 172353877], [172363412, 172363482], [172428636, 172429008]]	[[172351264, 172351882], [172353705, 172353877], [172363412, 172363450]]
ENST00000538775	[[172348434, 172351882], [172353705, 172353877], [172363412, 172363482], [172365651, 172365904], [172428636, 172429008]]	[[172351264, 172351882], [172353705, 172353877], [172363412, 172363482], [172365651, 172365904], [172428636, 172428870]]
ENST00000273512	[[172348434, 172351882], [172353705, 172353877], [172363412, 172363482], [172365675, 172365904], [172428636, 172429008]]	[[172351264, 172351882], [172353705, 172353877], [172363412, 172363482], [172365675, 172365904], [172428636, 172428870]]
ENST00000424772	[[172351662, 172351882], [172353705, 172353877], [172363412, 172363482], [172365651, 172365904], [172428636, 172428842]]	[[172351662, 172351882], [172353705, 172353877], [172363412, 172363482], [172365651, 172365904], [172428636, 172428842]]
ENST00000421723	[[172351788, 172351882], [172353705, 172353877], [172363412, 172363482], [172428636, 172428902]]	[[172363434, 172363482], [172428636, 172428870]]
ENST00000470419	[[172351564, 172351882], [172353705, 172353974]]	None
NM_001146276	[[172348434, 172351882], [172353705, 172353877], [172363412, 172363482], [172365651, 172365904], [172428636, 172429008]]	[[172351264, 172351882], [172353705, 172353877], [172363412, 172363482], [172365651, 172365904], [172428636, 172428870]]
NM_020792	[[172348434, 172351882], [172353705, 172353877], [172363412, 172363482], [172365675, 172365904], [172428636, 172429008]]	[[172351264, 172351882], [172353705, 172353877], [172363412, 172363482], [172365675, 172365904], [172428636, 172428870]]
NM_001146277	[[172348434, 172351882], [172353705, 172353877], [172363412, 172363482], [172365685, 172365904], [172428636, 172429008]]	[[172351264, 172351882], [172353705, 172353877], [172363412, 172363450]]
NM_001146278	[[172348434, 172351882], [172353705, 172353877], [172363412, 172363482], [172428636, 172429008]]	[[172351264, 172351882], [172353705, 172353877], [172363412, 172363450]]

Promoter

Chrom	Start	End	Description
chr3	172428806	172428818	CAGE_peak_3_at_NCEH1_5end
chr3	172428845	172428895	CAGE_peak_1_at_NCEH1_5end
chr3	172428959	172429013	CAGE_peak_2_at_NCEH1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I172635	172635040	172638700	0.96	[{'connected_gene': 'NCEH1', 'score': 16.58}, {'connected_gene': 'TMEM212', 'score': 9.01}, {'connected_gene': 'SLC31A1P1', 'score': 0.29}, {'connected_gene': 'PIR41392', 'score': 0.29}]
chr3	GH03I172625	172625400	172627840	1.33	[{'connected_gene': 'NCEH1', 'score': 11.24}, {'connected_gene': 'GHSR', 'score': 11.03}, {'connected_gene': 'SLC31A1P1', 'score': 0.34}, {'connected_gene': 'PIR41392', 'score': 0.26}]
chr3	GH03I172622	172622571	172624227	1.09	[{'connected_gene': 'NCEH1', 'score': 11.23}, {'connected_gene': 'GHSR', 'score': 11.03}, {'connected_gene': 'SLC31A1P1', 'score': 0.37}, {'connected_gene': 'PIR41392', 'score': 0.26}]
chr3	GH03I172690	172690942	172693200	1.16	[{'connected_gene': 'NCEH1', 'score': 14.7}, {'connected_gene': 'ECT2', 'score': 10.18}, {'connected_gene': 'GC03M172695', 'score': 0.77}, {'connected_gene': 'LOC100420939', 'score': 0.39}]
chr3	GH03I172720	172720522	172721886	0.2	[{'connected_gene': 'NCEH1', 'score': 20.95}, {'connected_gene': 'ECT2', 'score': 0.31}]
chr3	GH03I172675	172675001	172678600	1.08	[{'connected_gene': 'NCEH1', 'score': 15.99}, {'connected_gene': 'RNU6-547P', 'score': 11.72}, {'connected_gene': 'LOC100420939', 'score': 0.77}, {'connected_gene': 'PIR41392', 'score': 0.44}]
chr3	GH03I172707	172706736	172712460	1.54	[{'connected_gene': 'NCEH1', 'score': 579.64}, {'connected_gene': 'RNU6-547P', 'score': 0.44}]
chr3	GH03I172706	172706126	172706438	0.22	[{'connected_gene': 'NCEH1', 'score': 14.58}, {'connected_gene': 'RNU6-547P', 'score': 0.77}]
chr3	GH03I172684	172684952	172686672	0.69	[{'connected_gene': 'NCEH1', 'score': 18.75}, {'connected_gene': 'LOC100420939', 'score': 0.44}, {'connected_gene': 'GC03M172695', 'score': 0.39}]
chr3	GH03I172853	172853172	172854917	0.72	[{'connected_gene': 'NCEH1', 'score': 12.62}, {'connected_gene': 'GC03M172839', 'score': 0.39}, {'connected_gene': 'GC03M172909', 'score': 0.22}]
chr3	GH03I172648	172648001	172649400	1.21	[{'connected_gene': 'GHSR', 'score': 10.89}, {'connected_gene': 'NCEH1', 'score': 10.51}, {'connected_gene': 'PIR41392', 'score': 0.37}, {'connected_gene': 'SLC31A1P1', 'score': 0.26}]
chr3	GH03I172616	172616000	172616201	0.51	[{'connected_gene': 'GHSR', 'score': 11.24}, {'connected_gene': 'NCEH1', 'score': 10.57}, {'connected_gene': 'RNU6-547P', 'score': 9.47}, {'connected_gene': 'SLC31A1P1', 'score': 0.39}, {'connected_gene': 'PIR41392', 'score': 0.23}]
chr3	GH03I172747	172747782	172752610	2.58	[{'connected_gene': 'ECT2', 'score': 555.47}, {'connected_gene': 'NCEH1', 'score': 29.71}, {'connected_gene': 'RNU6-547P', 'score': 11.38}]
chr3	GH03I172672	172672629	172674400	0.99	[{'connected_gene': 'RNU6-547P', 'score': 11.6}, {'connected_gene': 'NCEH1', 'score': 11.28}, {'connected_gene': 'PIR41392', 'score': 0.44}, {'connected_gene': 'LOC100420939', 'score': 0.44}]
chr3	GH03I172700	172700371	172702500	1	[{'connected_gene': 'RNU6-547P', 'score': 550.77}, {'connected_gene': 'NCEH1', 'score': 21.23}, {'connected_gene': 'GC03M172695', 'score': 0.44}]
chr3	GH03I172643	172643527	172644196	0.2	[{'connected_gene': 'RNU6-547P', 'score': 10.2}, {'connected_gene': 'PIR41392', 'score': 0.34}, {'connected_gene': 'SLC31A1P1', 'score': 0.28}, {'connected_gene': 'NCEH1', 'score': 0.2}]
chr3	GH03I172680	172680815	172681519	0.56	[{'connected_gene': 'LOC100420939', 'score': 550.77}, {'connected_gene': 'NCEH1', 'score': 11.85}, {'connected_gene': 'RNU6-547P', 'score': 11.4}, {'connected_gene': 'GC03M172695', 'score': 0.39}]
chr3	GH03I172665	172665972	172667600	1.2	[{'connected_gene': 'PIR41392', 'score': 550.77}, {'connected_gene': 'NCEH1', 'score': 11.21}, {'connected_gene': 'SLC31A1P1', 'score': 0.21}]
chr3	GH03I172695	172695188	172699799	1.1	[{'connected_gene': 'GC03M172695', 'score': 550.77}, {'connected_gene': 'NCEH1', 'score': 13.85}, {'connected_gene': 'RNU6-547P', 'score': 0.44}]
chr3	GH03I172656	172656920	172660155	1.25	[{'connected_gene': 'PIR41392', 'score': 0.44}, {'connected_gene': 'SLC31A1P1', 'score': 0.23}, {'connected_gene': 'NCEH1', 'score': 0.23}]
chr3	GH03I172694	172694601	172695000	0.38	[{'connected_gene': 'GC03M172695', 'score': 550.77}, {'connected_gene': 'LOC100420939', 'score': 0.39}, {'connected_gene': 'NCEH1', 'score': 0.37}]