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
ENST00000323013	[[42905973, 42909001], [42910111, 42910310], [42910687, 42910785], [42911156, 42911274], [42912016, 42912142], [42914010, 42914153], [42915719, 42915808]]	[[42908915, 42909001], [42910111, 42910310], [42910687, 42910785], [42911156, 42911274], [42912016, 42912142], [42914010, 42914153], [42915719, 42915792]]
ENST00000416699	[[42910682, 42910785], [42911156, 42911274], [42912016, 42912142], [42914010, 42914153], [42914618, 42914734], [42915719, 42915800]]	[[42914645, 42914734], [42915719, 42915792]]
ENST00000483303	[[42911206, 42911274], [42912016, 42912302], [42914010, 42914153], [42915719, 42915802]]	None
NM_015703	[[42904340, 42909001], [42910111, 42910310], [42910687, 42910785], [42911156, 42911274], [42912016, 42912142], [42914010, 42914153], [42915719, 42915829]]	[[42908915, 42909001], [42910111, 42910310], [42910687, 42910785], [42911156, 42911274], [42912016, 42912142], [42914010, 42914153], [42915719, 42915792]]

Promoter

Chrom	Start	End	Description
chr22	42913345	42913349	CAGE_peak_3_at_RRP7A_5end
chr22	42915788	42915815	CAGE_peak_1_at_RRP7A_5end
chr22	42915821	42915832	CAGE_peak_2_at_RRP7A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I042498	42498066	42501338	1.55	[{'connected_gene': 'SERHL', 'score': 550.77}, {'connected_gene': 'RRP7A', 'score': 15.46}, {'connected_gene': 'RRP7BP', 'score': 11.5}, {'connected_gene': 'NFAM1', 'score': 11.04}, {'connected_gene': 'CYB5R3', 'score': 5.29}, {'connected_gene': 'LOC101927344', 'score': 0.21}]
chr22	GH22I042527	42527925	42530983	0.43	[{'connected_gene': 'RRP7BP', 'score': 18.68}, {'connected_gene': 'RRP7A', 'score': 13.16}, {'connected_gene': 'SMDT1', 'score': 4.62}, {'connected_gene': 'SERHL2', 'score': 0.39}, {'connected_gene': 'GC22P042549', 'score': 0.34}]
chr22	GH22I042536	42536248	42538481	1.31	[{'connected_gene': 'RRP7BP', 'score': 20.75}, {'connected_gene': 'RRP7A', 'score': 13.09}, {'connected_gene': 'SERHL2', 'score': 8.56}, {'connected_gene': 'SMDT1', 'score': 4.57}, {'connected_gene': 'CSDC2', 'score': 4.03}, {'connected_gene': 'GC22P042549', 'score': 0.39}]
chr22	GH22I042444	42443489	42445294	1.69	[{'connected_gene': 'TCF20', 'score': 15.53}, {'connected_gene': 'PHF5A', 'score': 14.73}, {'connected_gene': 'RPL5P34', 'score': 12.22}, {'connected_gene': 'RN7SKP80', 'score': 11.07}, {'connected_gene': 'CYP2D7', 'score': 10.73}, {'connected_gene': 'CYP2D6', 'score': 10.73}, {'connected_gene': 'ENSG00000232710', 'score': 10.73}, {'connected_gene': 'POLDIP3', 'score': 10.38}, {'connected_gene': 'NFAM1', 'score': 2.87}, {'connected_gene': 'SMDT1', 'score': 2.14}, {'connected_gene': 'SEPT3', 'score': 1.53}, {'connected_gene': 'RRP7A', 'score': 1.27}, {'connected_gene': 'LOC101927344', 'score': 0.44}, {'connected_gene': 'SERHL', 'score': 0.22}]
chr22	GH22I042538	42538767	42539990	0.86	[{'connected_gene': 'RRP7A', 'score': 12.3}, {'connected_gene': 'RRP7BP', 'score': 9.22}, {'connected_gene': 'SERHL2', 'score': 8.42}, {'connected_gene': 'GC22P042549', 'score': 0.39}, {'connected_gene': 'GC22M042542', 'score': 0.39}]
chr22	GH22I042532	42532478	42534230	1.28	[{'connected_gene': 'RRP7A', 'score': 14.08}, {'connected_gene': 'RRP7BP', 'score': 5.19}, {'connected_gene': 'SERHL2', 'score': 0.39}, {'connected_gene': 'GC22P042549', 'score': 0.37}]
chr22	GH22I042595	42595262	42596793	0.4	[{'connected_gene': 'RRP7A', 'score': 6.2}, {'connected_gene': 'PIR37149', 'score': 0.77}, {'connected_gene': 'PIR60192', 'score': 0.39}, {'connected_gene': 'POLDIP3', 'score': 0.37}]
chr22	GH22I042518	42518735	42521321	2.17	[{'connected_gene': 'RRP7A', 'score': 567.0}, {'connected_gene': 'SERHL2', 'score': 550.77}, {'connected_gene': 'GC22P042518', 'score': 550.77}, {'connected_gene': 'RRP7BP', 'score': 15.44}, {'connected_gene': 'CSDC2', 'score': 4.51}, {'connected_gene': 'GC22P042549', 'score': 0.31}]
chr22	GH22I042482	42482322	42484598	0.31	[{'connected_gene': 'RRP7A', 'score': 13.99}, {'connected_gene': 'CYB5R3', 'score': 7.13}, {'connected_gene': 'RRP7BP', 'score': 6.85}, {'connected_gene': 'SERHL', 'score': 0.37}, {'connected_gene': 'LOC101927344', 'score': 0.25}]
chr22	GH22I042488	42488403	42489471	0.38	[{'connected_gene': 'TTLL1', 'score': 14.11}, {'connected_gene': 'SNU13', 'score': 11.02}, {'connected_gene': 'LOC100506679', 'score': 9.9}, {'connected_gene': 'CYB5R3', 'score': 7.82}, {'connected_gene': 'RRP7A', 'score': 6.83}, {'connected_gene': 'SERHL', 'score': 0.39}, {'connected_gene': 'LOC101927344', 'score': 0.23}]
chr22	GH22I042531	42531555	42531704	0.67	[{'connected_gene': 'SERHL2', 'score': 0.39}, {'connected_gene': 'RRP7A', 'score': 0.39}, {'connected_gene': 'GC22P042549', 'score': 0.37}]
chr22	GH22I042544	42544737	42545168	0.74	[{'connected_gene': 'SERHL2', 'score': 12.07}, {'connected_gene': 'GC22P042549', 'score': 0.77}, {'connected_gene': 'GC22M042542', 'score': 0.44}, {'connected_gene': 'RRP7A', 'score': 0.31}]
chr22	GH22I042493	42493555	42493704	0.31	[{'connected_gene': 'NFAM1', 'score': 11.23}, {'connected_gene': 'RRP7A', 'score': 5.01}, {'connected_gene': 'SERHL', 'score': 0.44}, {'connected_gene': 'LOC101927344', 'score': 0.22}]
chr22	GH22I042508	42508049	42509817	0.54	[{'connected_gene': 'GC22P042508', 'score': 550.77}, {'connected_gene': 'RRP7BP', 'score': 18.86}, {'connected_gene': 'RRP7A', 'score': 16.29}, {'connected_gene': 'SERHL2', 'score': 10.6}, {'connected_gene': 'CYB5R3', 'score': 4.97}, {'connected_gene': 'PIR44189', 'score': 0.77}, {'connected_gene': 'SERHL', 'score': 0.44}]
chr22	GH22I042511	42511057	42512922	0.88	[{'connected_gene': 'PIR44189', 'score': 550.77}, {'connected_gene': 'RRP7BP', 'score': 17.02}, {'connected_gene': 'RRP7A', 'score': 16.3}, {'connected_gene': 'CYB5R3', 'score': 7.03}, {'connected_gene': 'GC22P042508', 'score': 0.77}, {'connected_gene': 'SERHL', 'score': 0.39}]
chr22	GH22I042549	42549245	42549814	0.38	[{'connected_gene': 'GC22P042549', 'score': 550.77}, {'connected_gene': 'GC22M042542', 'score': 550.77}, {'connected_gene': 'SERHL2', 'score': 11.95}, {'connected_gene': 'RRP7A', 'score': 0.31}]