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
ENST00000360947	[[21558204, 21559299], [21559569, 21559701], [21560023, 21561449], [21561744, 21561833], [21566470, 21566799]]	[[21558694, 21559299], [21559569, 21559701], [21560023, 21561449], [21561744, 21561750]]
ENST00000451119	[[21558240, 21559299], [21559569, 21559701], [21560023, 21561449], [21561744, 21561833], [21572669, 21572881]]	[[21558694, 21559299], [21559569, 21559701], [21560023, 21561449], [21561744, 21561750]]
ENST00000421093	[[21558242, 21559299], [21559569, 21559701], [21560023, 21561449], [21561744, 21561833], [21566969, 21567173]]	[[21558694, 21559299], [21559569, 21559701], [21560023, 21561449], [21561744, 21561750]]
ENST00000555270	[[21560821, 21561449], [21561744, 21561833], [21562578, 21562659]]	[[21560821, 21561449], [21561744, 21561750]]
ENST00000554478	[[21561119, 21561463], [21561744, 21561833], [21566969, 21567081]]	[[21561119, 21561463], [21561744, 21561833], [21566969, 21567010]]
ENST00000556174	[[21561122, 21561449], [21561744, 21561833], [21565486, 21565571], [21566969, 21567014]]	[[21561122, 21561449], [21561744, 21561750]]
ENST00000554923	[[21561130, 21561463], [21561744, 21561833], [21562549, 21562694]]	[[21561130, 21561463], [21561744, 21561833], [21562549, 21562563]]
ENST00000553296	[[21561132, 21561449], [21561744, 21561987]]	[[21561132, 21561449], [21561744, 21561750]]
ENST00000553980	[[21561161, 21561449], [21561587, 21561651], [21561744, 21561833], [21566969, 21567104]]	[[21561161, 21561332]]
ENST00000556944	[[21561325, 21561833], [21566969, 21567070]]	None
ENST00000555697	[[21561361, 21561449], [21561744, 21561833], [21571261, 21571738]]	[[21561361, 21561449], [21561744, 21561750]]
ENST00000556101	[[21561416, 21561833], [21562549, 21562607]]	None
NM_016423	[[21558204, 21559299], [21559569, 21559701], [21560023, 21561449], [21561744, 21561833], [21566470, 21566808]]	[[21558694, 21559299], [21559569, 21559701], [21560023, 21561449], [21561744, 21561750]]
NM_001101672	[[21558204, 21559299], [21559569, 21559701], [21560023, 21561449], [21561744, 21561833], [21566969, 21567173]]	[[21558694, 21559299], [21559569, 21559701], [21560023, 21561449], [21561744, 21561750]]
NM_001102454	[[21558204, 21559299], [21559569, 21559701], [21560023, 21561449], [21561744, 21561833], [21572669, 21572863]]	[[21558694, 21559299], [21559569, 21559701], [21560023, 21561449], [21561744, 21561750]]

Promoter

Chrom	Start	End	Description
chr14	21562648	21562658	CAGE_peak_22_at_ZNF219_5end
chr14	21562671	21562702	CAGE_peak_8_at_ZNF219_5end
chr14	21566540	21566580	CAGE_peak_2_at_ZNF219_5end
chr14	21566731	21566836	CAGE_peak_1_at_ZNF219_5end
chr14	21566882	21566898	CAGE_peak_3_at_ZNF219_5end
chr14	21567009	21567025	CAGE_peak_9_at_ZNF219_5end
chr14	21572366	21572375	CAGE_peak_16_at_ZNF219_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I020459	20459546	20463381	2.3	[{'connected_gene': 'PIP4P1', 'score': 561.03}, {'connected_gene': 'SUPT16H', 'score': 34.78}, {'connected_gene': 'METTL17', 'score': 28.96}, {'connected_gene': 'TEP1', 'score': 24.99}, {'connected_gene': 'CHD8', 'score': 22.62}, {'connected_gene': 'ENSG00000258515', 'score': 13.45}, {'connected_gene': 'RNA5SP382', 'score': 11.2}, {'connected_gene': 'APEX1', 'score': 10.8}, {'connected_gene': 'ZNF219', 'score': 10.17}]
chr14	GH14I021014	21014522	21016092	1.09	[{'connected_gene': 'RNASE7', 'score': 11.35}, {'connected_gene': 'ARHGEF40', 'score': 11.26}, {'connected_gene': 'NDRG2', 'score': 11.25}, {'connected_gene': 'ZNF219', 'score': 11.14}, {'connected_gene': 'METTL17', 'score': 10.98}, {'connected_gene': 'TMEM253', 'score': 10.91}, {'connected_gene': 'GC14M021020', 'score': 0.44}, {'connected_gene': 'GC14P021091', 'score': 0.39}]
chr14	GH14I021043	21043200	21045151	0.91	[{'connected_gene': 'RNASE7', 'score': 555.86}, {'connected_gene': 'PARP2', 'score': 13.42}, {'connected_gene': 'PIP4P1', 'score': 11.59}, {'connected_gene': 'NDRG2', 'score': 11.55}, {'connected_gene': 'ARHGEF40', 'score': 11.55}, {'connected_gene': 'ZNF219', 'score': 10.9}, {'connected_gene': 'TMEM253', 'score': 10.54}, {'connected_gene': 'ENSG00000258515', 'score': 9.82}, {'connected_gene': 'ENSG00000258768', 'score': 9.68}, {'connected_gene': 'LOC105370398', 'score': 0.44}]
chr14	GH14I020679	20679641	20689424	2.67	[{'connected_gene': 'RNASE4', 'score': 570.03}, {'connected_gene': 'ANG', 'score': 556.76}, {'connected_gene': 'TRP-TGG3-2', 'score': 550.77}, {'connected_gene': 'TRY-GTA5-5', 'score': 550.77}, {'connected_gene': 'PIR55020', 'score': 550.77}, {'connected_gene': 'ENSG00000259171', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 44.55}, {'connected_gene': 'ENSG00000258515', 'score': 38.75}, {'connected_gene': 'SUPT16H', 'score': 36.21}, {'connected_gene': 'CHD8', 'score': 32.71}, {'connected_gene': 'PARP2', 'score': 31.86}, {'connected_gene': 'TTC5', 'score': 21.96}, {'connected_gene': 'PIP4P1', 'score': 20.78}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'OSGEP', 'score': 16.13}, {'connected_gene': 'PNP', 'score': 15.64}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'METTL17', 'score': 15.06}, {'connected_gene': 'TEP1', 'score': 14.24}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'ENSG00000259001', 'score': 5.03}, {'connected_gene': 'ZNF219', 'score': 3.58}, {'connected_gene': 'NDRG2', 'score': 1.44}, {'connected_gene': 'ARHGEF40', 'score': 1.39}, {'connected_gene': 'GC14P020760', 'score': 0.77}, {'connected_gene': 'TRT-TGT5-1', 'score': 0.77}, {'connected_gene': 'PIR37991', 'score': 0.77}]
chr14	GH14I020954	20954601	20956200	1.27	[{'connected_gene': 'RNASE2', 'score': 550.77}, {'connected_gene': 'ENSG00000136315', 'score': 16.27}, {'connected_gene': 'METTL17', 'score': 12.25}, {'connected_gene': 'SLC39A2', 'score': 11.1}, {'connected_gene': 'RNASE1', 'score': 10.56}, {'connected_gene': 'ZNF219', 'score': 9.89}, {'connected_gene': 'TMEM253', 'score': 9.89}, {'connected_gene': 'LOC100507513', 'score': 0.37}]
chr14	GH14I021068	21068537	21073552	2.44	[{'connected_gene': 'ARHGEF40', 'score': 579.42}, {'connected_gene': 'NDRG2', 'score': 550.77}, {'connected_gene': 'TMEM253', 'score': 12.12}, {'connected_gene': 'ZNF219', 'score': 12.1}, {'connected_gene': 'RNASE7', 'score': 10.89}, {'connected_gene': 'TPPP2', 'score': 10.66}, {'connected_gene': 'RNASE13', 'score': 10.38}, {'connected_gene': 'ENSG00000255472', 'score': 10.38}, {'connected_gene': 'RNASE6', 'score': 2.28}, {'connected_gene': 'TOX4', 'score': 1.78}, {'connected_gene': 'HNRNPC', 'score': 1.69}, {'connected_gene': 'PIR44581', 'score': 0.34}]
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	GH14I021092	21092263	21110589	2.82	[{'connected_gene': 'ZNF219', 'score': 550.77}, {'connected_gene': 'TMEM253', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 57.68}, {'connected_gene': 'METTL17', 'score': 54.87}, {'connected_gene': 'SUPT16H', 'score': 48.9}, {'connected_gene': 'CHD8', 'score': 42.94}, {'connected_gene': 'TEP1', 'score': 24.51}, {'connected_gene': 'APEX1', 'score': 15.54}, {'connected_gene': 'PNP', 'score': 14.05}, {'connected_gene': 'ARHGEF40', 'score': 12.06}, {'connected_gene': 'SNORA79B', 'score': 9.89}, {'connected_gene': 'OR11H7', 'score': 4.6}, {'connected_gene': 'GC14M021101', 'score': 0.77}, {'connected_gene': 'PIR44581', 'score': 0.44}, {'connected_gene': 'ENSG00000178107', 'score': 0.44}, {'connected_gene': 'CKAP2P1', 'score': 0.39}]
chr14	GH14I021191	21191401	21192800	1.01	[{'connected_gene': 'OR5AU1', 'score': 10.84}, {'connected_gene': 'ZNF219', 'score': 10.39}, {'connected_gene': 'TMEM253', 'score': 10.38}, {'connected_gene': 'RNASE13', 'score': 9.9}, {'connected_gene': 'ENSG00000255472', 'score': 9.9}, {'connected_gene': 'TPPP2', 'score': 9.9}, {'connected_gene': 'LOC100129923', 'score': 0.44}, {'connected_gene': 'LINC00641', 'score': 0.39}]
chr14	GH14I020997	20997235	21000135	1.37	[{'connected_gene': 'SLC39A2', 'score': 565.85}, {'connected_gene': 'LOC101929718', 'score': 550.77}, {'connected_gene': 'TPPP2', 'score': 11.17}, {'connected_gene': 'ENSG00000255472', 'score': 10.85}, {'connected_gene': 'RNASE13', 'score': 10.84}, {'connected_gene': 'ZNF219', 'score': 10.62}, {'connected_gene': 'TMEM253', 'score': 10.59}, {'connected_gene': 'RNASE7', 'score': 10.29}, {'connected_gene': 'METTL17', 'score': 0.44}]
chr14	GH14I021887	21887378	21888564	0.79	[{'connected_gene': 'TRAV12-2', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 36.13}, {'connected_gene': 'TRAV8-5', 'score': 29.36}, {'connected_gene': 'SUPT16H', 'score': 26.39}, {'connected_gene': 'METTL17', 'score': 21.44}, {'connected_gene': 'RAB2B', 'score': 19.95}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'ENSG00000258458', 'score': 14.52}, {'connected_gene': 'MMP14', 'score': 13.08}, {'connected_gene': 'CHD8', 'score': 10.42}, {'connected_gene': 'ZNF219', 'score': 10.38}, {'connected_gene': 'TRAV8-4', 'score': 0.44}, {'connected_gene': 'TRA', 'score': 0.06}]
chr14	GH14I021134	21134062	21134211	0.2	[{'connected_gene': 'LOC105378175', 'score': 550.77}, {'connected_gene': 'ZNF219', 'score': 11.34}, {'connected_gene': 'NDRG2', 'score': 11.09}, {'connected_gene': 'ARHGEF40', 'score': 11.09}, {'connected_gene': 'TMEM253', 'score': 10.83}, {'connected_gene': 'RNU6-252P', 'score': 0.34}]
chr14	GH14I021048	21048762	21048871	0.77	[{'connected_gene': 'LOC105370398', 'score': 550.77}, {'connected_gene': 'TMEM253', 'score': 10.91}, {'connected_gene': 'ZNF219', 'score': 10.9}, {'connected_gene': 'RNASE7', 'score': 0.44}, {'connected_gene': 'NDRG2', 'score': 0.34}]
chr14	GH14I021090	21090402	21090551	0.83	[{'connected_gene': 'PIR44581', 'score': 550.77}, {'connected_gene': 'ZNF219', 'score': 0.39}, {'connected_gene': 'NDRG2', 'score': 0.37}]
chr14	GH14I020705	20705851	20708411	0.77	[{'connected_gene': 'ENSG00000258451', 'score': 550.77}, {'connected_gene': 'EDDM3A', 'score': 11.7}, {'connected_gene': 'ANG', 'score': 11.32}, {'connected_gene': 'EDDM3B', 'score': 11.0}, {'connected_gene': 'RNASE1', 'score': 10.96}, {'connected_gene': 'METTL17', 'score': 10.95}, {'connected_gene': 'ZNF219', 'score': 9.79}, {'connected_gene': 'TPPP2', 'score': 9.59}, {'connected_gene': 'RNASE13', 'score': 9.59}, {'connected_gene': 'ENSG00000255472', 'score': 9.59}, {'connected_gene': 'RNA5SP382', 'score': 9.16}, {'connected_gene': 'TEP1', 'score': 9.16}, {'connected_gene': 'PIR39681', 'score': 0.39}, {'connected_gene': 'GC14M020723', 'score': 0.39}]