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
ENST00000398160	[[20779526, 20779911], [20781626, 20781960], [20784385, 20784719], [20793697, 20793812], [20794874, 20794952], [20797332, 20797532], [20801002, 20801169]]	[[20779708, 20779911], [20781626, 20781960], [20784385, 20784682]]
ENST00000398169	[[20779528, 20779911], [20781626, 20781960], [20784385, 20784719], [20785953, 20786133], [20793697, 20793812], [20794874, 20794952], [20797332, 20797539]]	[[20779708, 20779911], [20781626, 20781960], [20784385, 20784682]]
ENST00000358932	[[20779528, 20779911], [20781626, 20781960], [20784385, 20784719], [20793697, 20793812], [20794874, 20794952], [20797332, 20797532], [20801412, 20801447]]	[[20779708, 20779911], [20781626, 20781960], [20784385, 20784682]]
ENST00000437553	[[20779529, 20779911], [20781626, 20781960], [20784385, 20784719], [20785952, 20786133], [20793697, 20793812], [20794874, 20794952], [20797332, 20797533]]	[[20779708, 20779911], [20781626, 20781960], [20784385, 20784682]]
ENST00000353689	[[20779529, 20779911], [20781626, 20781960], [20784385, 20784719], [20793697, 20793812], [20794874, 20794952], [20801412, 20801457]]	[[20779708, 20779911], [20781626, 20781960], [20784385, 20784682]]
ENST00000398163	[[20779587, 20779911], [20781626, 20781960], [20784385, 20784719], [20786414, 20786629], [20793697, 20793812], [20794874, 20794952], [20797332, 20797536]]	[[20779708, 20779911], [20781626, 20781960], [20784385, 20784682]]
ENST00000554184	[[20779841, 20779911], [20781626, 20781960], [20783939, 20784009], [20784385, 20784424]]	[[20783954, 20784009], [20784385, 20784424]]
ENST00000556854	[[20779862, 20779911], [20781626, 20781960], [20783643, 20783777], [20784385, 20784719], [20793697, 20793812], [20794874, 20794952], [20797332, 20797532], [20801412, 20801462]]	[[20783765, 20783777], [20784385, 20784682]]
ENST00000557665	[[20781795, 20781960], [20784385, 20784719], [20793697, 20793812], [20794874, 20794952], [20797332, 20797532], [20801002, 20801441]]	[[20781795, 20781960], [20784385, 20784682]]
ENST00000554047	[[20782369, 20782808], [20783643, 20783777], [20784385, 20784567]]	[[20783765, 20783777], [20784385, 20784567]]
ENST00000556563	[[20784572, 20784719], [20788446, 20788551], [20793697, 20793812], [20794874, 20794952], [20797332, 20797533]]	[[20784572, 20784719], [20788446, 20788502]]
ENST00000553291	[[20784670, 20784719], [20793697, 20793812], [20794874, 20794952], [20797382, 20797532]]	[[20784670, 20784682]]
ENST00000553516	[[20785754, 20786133], [20793697, 20793812], [20794874, 20794952], [20797332, 20797429]]	None
ENST00000555348	[[20787209, 20787262], [20793697, 20793812], [20794874, 20794952], [20797332, 20797532], [20801412, 20801471]]	None
ENST00000557114	[[20793697, 20793812], [20794874, 20794952], [20797332, 20797532], [20798684, 20799047]]	None
ENST00000555963	[[20793747, 20793812], [20794874, 20794952], [20801002, 20801432]]	None
NM_182852	[[20779526, 20779911], [20781626, 20781960], [20784385, 20784719], [20785952, 20786133], [20793697, 20793812], [20794874, 20794952], [20797332, 20797532], [20801412, 20801471]]	[[20779708, 20779911], [20781626, 20781960], [20784385, 20784682]]
NM_021178	[[20779526, 20779911], [20781626, 20781960], [20784385, 20784719], [20793697, 20793812], [20794874, 20794952], [20797332, 20797532], [20801412, 20801471]]	[[20779708, 20779911], [20781626, 20781960], [20784385, 20784682]]
NM_182849	[[20779526, 20779911], [20781626, 20781960], [20784385, 20784719], [20793697, 20793812], [20794874, 20794952], [20801412, 20801471]]	[[20779708, 20779911], [20781626, 20781960], [20784385, 20784682]]

Promoter

Chrom	Start	End	Description
chr14	20801427	20801456	CAGE_peak_1_at_CCNB1IP1_5end
chr14	20801465	20801476	CAGE_peak_2_at_CCNB1IP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I020375	20375089	20381837	0.79	[{'connected_gene': 'TEP1', 'score': 16.36}, {'connected_gene': 'RNA5SP382', 'score': 11.67}, {'connected_gene': 'CCNB1IP1', 'score': 10.9}, {'connected_gene': 'SNORD126', 'score': 10.89}, {'connected_gene': 'RNASE11', 'score': 10.63}, {'connected_gene': 'ENSG00000259001', 'score': 7.0}, {'connected_gene': 'SNORA79B', 'score': 5.85}, {'connected_gene': 'ENSG00000254846', 'score': 0.29}]
chr14	GH14I020334	20334852	20334984	0.38	[{'connected_gene': 'CCNB1IP1', 'score': 550.77}, {'connected_gene': 'RPPH1', 'score': 0.44}]
chr14	GH14I020331	20331600	20334178	2.02	[{'connected_gene': 'CCNB1IP1', 'score': 560.83}, {'connected_gene': 'HNRNPC', 'score': 15.38}, {'connected_gene': 'APEX1', 'score': 9.78}, {'connected_gene': 'ENSG00000258768', 'score': 6.4}, {'connected_gene': 'GC14M020327', 'score': 0.44}, {'connected_gene': 'SNORD126', 'score': 0.44}]
chr14	GH14I020453	20453599	20457486	2.12	[{'connected_gene': 'OSGEP', 'score': 609.68}, {'connected_gene': 'APEX1', 'score': 598.25}, {'connected_gene': 'SUPT16H', 'score': 100.91}, {'connected_gene': 'METTL17', 'score': 100.48}, {'connected_gene': 'ENSG00000258515', 'score': 70.52}, {'connected_gene': 'TEP1', 'score': 42.76}, {'connected_gene': 'TTC5', 'score': 20.43}, {'connected_gene': 'PIP4P1', 'score': 19.81}, {'connected_gene': 'ZNF219', 'score': 18.84}, {'connected_gene': 'PNP', 'score': 14.42}, {'connected_gene': 'ENSG00000258768', 'score': 9.8}, {'connected_gene': 'CCNB1IP1', 'score': 9.76}]
chr14	GH14I020468	20468756	20474701	2.28	[{'connected_gene': 'PNP', 'score': 45.79}, {'connected_gene': 'SUPT16H', 'score': 45.06}, {'connected_gene': 'METTL17', 'score': 37.14}, {'connected_gene': 'TEP1', 'score': 33.04}, {'connected_gene': 'CHD8', 'score': 27.79}, {'connected_gene': 'APEX1', 'score': 18.05}, {'connected_gene': 'HNRNPC', 'score': 15.38}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'TTC5', 'score': 12.61}, {'connected_gene': 'RNASE10', 'score': 11.26}, {'connected_gene': 'RNA5SP382', 'score': 10.95}, {'connected_gene': 'CCNB1IP1', 'score': 10.48}, {'connected_gene': 'SNORD126', 'score': 10.47}, {'connected_gene': 'GC14P020476', 'score': 0.77}, {'connected_gene': 'GC14P020477', 'score': 0.77}]
chr14	GH14I020605	20605817	20607041	0.84	[{'connected_gene': 'RNASE9', 'score': 11.62}, {'connected_gene': 'RNA5SP382', 'score': 11.09}, {'connected_gene': 'TEP1', 'score': 11.09}, {'connected_gene': 'SNORD126', 'score': 10.6}, {'connected_gene': 'CCNB1IP1', 'score': 10.57}, {'connected_gene': 'RNASE11', 'score': 0.77}, {'connected_gene': 'TRP-AGG2-5', 'score': 0.77}, {'connected_gene': 'ENSG00000259060', 'score': 0.77}, {'connected_gene': 'RNASE12', 'score': 0.37}, {'connected_gene': 'LOC254028', 'score': 0.37}]
chr14	GH14I020601	20601801	20602000	0.38	[{'connected_gene': 'RNASE9', 'score': 11.64}, {'connected_gene': 'RNA5SP382', 'score': 11.1}, {'connected_gene': 'TEP1', 'score': 11.1}, {'connected_gene': 'SNORD126', 'score': 10.6}, {'connected_gene': 'CCNB1IP1', 'score': 10.57}, {'connected_gene': 'RNASE11', 'score': 0.44}, {'connected_gene': 'TRP-AGG2-5', 'score': 0.44}, {'connected_gene': 'ENSG00000259060', 'score': 0.44}, {'connected_gene': 'RNASE12', 'score': 0.39}, {'connected_gene': 'LOC254028', 'score': 0.39}]
chr14	GH14I020609	20608942	20610757	1.57	[{'connected_gene': 'RNASE11', 'score': 550.77}, {'connected_gene': 'ENSG00000259060', 'score': 550.77}, {'connected_gene': 'TRL-AAG2-3', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-5', 'score': 550.77}, {'connected_gene': 'PARP2', 'score': 31.87}, {'connected_gene': 'SUPT16H', 'score': 31.81}, {'connected_gene': 'METTL3', 'score': 26.36}, {'connected_gene': 'TTC5', 'score': 21.97}, {'connected_gene': 'ENSG00000258515', 'score': 21.74}, {'connected_gene': 'CHD8', 'score': 20.56}, {'connected_gene': 'PIP4P1', 'score': 19.86}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'OSGEP', 'score': 12.55}, {'connected_gene': 'METTL17', 'score': 11.27}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'CCNB1IP1', 'score': 10.83}]
chr14	GH14I020341	20341709	20344698	2.1	[{'connected_gene': 'PARP2', 'score': 582.44}, {'connected_gene': 'RPPH1', 'score': 550.77}, {'connected_gene': 'ENSG00000259001', 'score': 550.77}, {'connected_gene': 'METTL17', 'score': 32.29}, {'connected_gene': 'ENSG00000258768', 'score': 22.92}, {'connected_gene': 'TEP1', 'score': 22.28}, {'connected_gene': 'ENSG00000258515', 'score': 21.78}, {'connected_gene': 'PIP4P1', 'score': 21.29}, {'connected_gene': 'APEX1', 'score': 17.82}, {'connected_gene': 'HNRNPC', 'score': 15.38}, {'connected_gene': 'ENSG00000254846', 'score': 0.77}, {'connected_gene': 'CCNB1IP1', 'score': 0.44}]
chr14	GH14I020657	20657201	20658253	1.2	[{'connected_gene': 'TRY-GTA4-1', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 77.67}, {'connected_gene': 'SUPT16H', 'score': 63.34}, {'connected_gene': 'METTL17', 'score': 47.65}, {'connected_gene': 'ENSG00000258515', 'score': 44.33}, {'connected_gene': 'PARP2', 'score': 35.88}, {'connected_gene': 'TTC5', 'score': 33.01}, {'connected_gene': 'CHD8', 'score': 29.8}, {'connected_gene': 'RAB2B', 'score': 28.62}, {'connected_gene': 'ENSG00000258768', 'score': 28.21}, {'connected_gene': 'OSGEP', 'score': 22.97}, {'connected_gene': 'TEP1', 'score': 22.29}, {'connected_gene': 'PIP4P1', 'score': 19.79}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'ANG', 'score': 11.61}, {'connected_gene': 'CCNB1IP1', 'score': 10.82}, {'connected_gene': 'SNORA79B', 'score': 10.05}, {'connected_gene': 'APEX1', 'score': 9.77}, {'connected_gene': 'TRY-GTA7-1', 'score': 0.77}]
chr14	GH14I020327	20327326	20327800	0.98	[{'connected_gene': 'GC14M020327', 'score': 550.77}, {'connected_gene': 'SNORD126', 'score': 550.77}, {'connected_gene': 'CCNB1IP1', 'score': 0.44}]