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
ENST00000283131	[[144434615, 144435254], [144438507, 144438582], [144442581, 144442748], [144445519, 144445620], [144446603, 144446704], [144447433, 144447613], [144449020, 144449176], [144449735, 144449867], [144451610, 144451679], [144456007, 144456117], [144457604, 144457831], [144459742, 144459864], [144459938, 144460091], [144461515, 144461648], [144464661, 144464810], [144465005, 144465125], [144465889, 144466000], [144466622, 144466736], [144467077, 144467200], [144467928, 144468061], [144468537, 144468656], [144469080, 144469293], [144471149, 144471257], [144474271, 144478639]]	[[144435077, 144435254], [144438507, 144438582], [144442581, 144442748], [144445519, 144445620], [144446603, 144446704], [144447433, 144447613], [144449020, 144449176], [144449735, 144449867], [144451610, 144451679], [144456007, 144456117], [144457604, 144457831], [144459742, 144459864], [144459938, 144460091], [144461515, 144461648], [144464661, 144464810], [144465005, 144465125], [144465889, 144466000], [144466622, 144466736], [144467077, 144467200], [144467928, 144468061], [144468537, 144468656], [144469080, 144469293], [144471149, 144471257], [144474271, 144474337]]
ENST00000515531	[[144464785, 144464810], [144465005, 144465509]]	None
ENST00000508573	[[144468584, 144468656], [144469080, 144469371]]	None
NM_003601	[[144434615, 144435254], [144438507, 144438582], [144442581, 144442748], [144445519, 144445620], [144446603, 144446704], [144447433, 144447613], [144449020, 144449176], [144449735, 144449867], [144451610, 144451679], [144456007, 144456117], [144457604, 144457831], [144459742, 144459864], [144459938, 144460091], [144461515, 144461648], [144464661, 144464810], [144465005, 144465125], [144465889, 144466000], [144466622, 144466736], [144467077, 144467200], [144467928, 144468061], [144468537, 144468656], [144469080, 144469293], [144471149, 144471257], [144474271, 144478642]]	[[144435077, 144435254], [144438507, 144438582], [144442581, 144442748], [144445519, 144445620], [144446603, 144446704], [144447433, 144447613], [144449020, 144449176], [144449735, 144449867], [144451610, 144451679], [144456007, 144456117], [144457604, 144457831], [144459742, 144459864], [144459938, 144460091], [144461515, 144461648], [144464661, 144464810], [144465005, 144465125], [144465889, 144466000], [144466622, 144466736], [144467077, 144467200], [144467928, 144468061], [144468537, 144468656], [144469080, 144469293], [144471149, 144471257], [144474271, 144474337]]

Promoter

Chrom	Start	End	Description
chr4	144434584	144434709	CAGE_peak_2_at_SMARCA5_5end
chr4	144434712	144434722	CAGE_peak_9_at_SMARCA5_5end
chr4	144434814	144434932	CAGE_peak_1_at_SMARCA5_5end
chr4	144435112	144435176	CAGE_peak_3_at_SMARCA5_5end
chr4	144464715	144464750	CAGE_peak_7_at_SMARCA5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I142695	142695682	142707113	0.95	[{'connected_gene': 'SMARCA5', 'score': 11.32}, {'connected_gene': 'INPP4B', 'score': 10.38}, {'connected_gene': 'PIR53759', 'score': 0.22}, {'connected_gene': 'LOC105377457', 'score': 0.2}]
chr4	GH04I143512	143512607	143516201	2.25	[{'connected_gene': 'SMARCA5', 'score': 550.77}, {'connected_gene': 'SMARCA5-AS1', 'score': 550.77}, {'connected_gene': 'GUSBP5', 'score': 24.87}]
chr4	GH04I143351	143351542	143363170	1.61	[{'connected_gene': 'USP38', 'score': 4.85}, {'connected_gene': 'SMARCA5', 'score': 2.99}, {'connected_gene': 'GAB1', 'score': 1.52}, {'connected_gene': 'RPS2P20', 'score': 0.44}, {'connected_gene': 'RPSAP36', 'score': 0.2}]
chr4	GH04I143230	143230844	143230977	0.39	[{'connected_gene': 'GAB1', 'score': 11.01}, {'connected_gene': 'USP38', 'score': 1.89}, {'connected_gene': 'SMARCA5', 'score': 1.7}, {'connected_gene': 'FREM3', 'score': 1.53}, {'connected_gene': 'LOC105377623', 'score': 0.25}, {'connected_gene': 'ENSG00000250969', 'score': 0.22}]
chr4	GH04I143555	143555039	143555307	0.56	[{'connected_gene': 'ENSG00000248924', 'score': 550.77}, {'connected_gene': 'GUSBP5', 'score': 25.21}, {'connected_gene': 'LOC101927636', 'score': 5.21}, {'connected_gene': 'SMARCA5', 'score': 0.26}, {'connected_gene': 'SMARCA5-AS1', 'score': 0.26}]