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
ENST00000361131	[[150464211, 150464634], [150535879, 150535963], [150537959, 150537992], [150569881, 150571493]]	[[150464328, 150464634], [150535879, 150535963], [150537959, 150537992], [150569881, 150569956]]
NM_030949	[[150464187, 150464634], [150535879, 150535963], [150537959, 150537992], [150569881, 150571528]]	[[150464328, 150464634], [150535879, 150535963], [150537959, 150537992], [150569881, 150569956]]

Promoter

Chrom	Start	End	Description
chr6	150464128	150464137	CAGE_peak_3_at_PPP1R14C_5end
chr6	150464155	150464222	CAGE_peak_1_at_PPP1R14C_5end
chr6	150570082	150570103	CAGE_peak_2_at_PPP1R14C_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I150665	150665669	150669624	1.23	[{'connected_gene': 'AKAP12', 'score': 10.45}, {'connected_gene': 'ENSG00000232891', 'score': 5.46}, {'connected_gene': 'PPP1R14C', 'score': 4.74}, {'connected_gene': 'ENSG00000226599', 'score': 0.37}, {'connected_gene': 'PLEKHG1', 'score': 0.2}, {'connected_gene': 'PDCL3P5', 'score': 0.1}]
chr6	GH06I150133	150133987	150135105	0.87	[{'connected_gene': 'LATS1', 'score': 20.62}, {'connected_gene': 'PPIL4', 'score': 15.69}, {'connected_gene': 'PPP1R14C', 'score': 0.44}, {'connected_gene': 'ULBP3', 'score': 0.2}]
chr6	GH06I150681	150681403	150688739	1.53	[{'connected_gene': 'LATS1', 'score': 11.66}, {'connected_gene': 'ZBTB2', 'score': 9.86}, {'connected_gene': 'PLEKHG1', 'score': 6.27}, {'connected_gene': 'ENSG00000232891', 'score': 5.5}, {'connected_gene': 'PPP1R14C', 'score': 5.37}, {'connected_gene': 'ENSG00000226599', 'score': 0.29}, {'connected_gene': 'PDCL3P5', 'score': 0.11}]
chr6	GH06I150167	150167485	150168722	0.95	[{'connected_gene': 'LATS1', 'score': 12.69}, {'connected_gene': 'KATNA1', 'score': 12.25}, {'connected_gene': 'NUP43', 'score': 12.04}, {'connected_gene': 'PPIL4', 'score': 9.81}, {'connected_gene': 'PPP1R14C', 'score': 5.14}, {'connected_gene': 'ENSG00000238594', 'score': 0.77}, {'connected_gene': 'LOC105378054', 'score': 0.15}, {'connected_gene': 'GC06M150158', 'score': 0.08}]
chr6	GH06I150081	150079825	150079914	0.67	[{'connected_gene': 'PPP1R14C', 'score': 11.51}, {'connected_gene': 'ULBP3', 'score': 0.39}]
chr6	GH06I150079	150079765	150079794	0.65	[{'connected_gene': 'PPP1R14C', 'score': 11.51}, {'connected_gene': 'ULBP3', 'score': 0.39}]
chr6	GH06I150200	150200505	150203258	0.88	[{'connected_gene': 'PPP1R14C', 'score': 20.79}, {'connected_gene': 'ENSG00000238594', 'score': 11.92}, {'connected_gene': 'RNU4-7P', 'score': 11.9}, {'connected_gene': 'IYD', 'score': 10.16}, {'connected_gene': 'LOC105378054', 'score': 0.2}, {'connected_gene': 'GC06M150158', 'score': 0.1}]
chr6	GH06I150205	150205021	150205447	0.43	[{'connected_gene': 'PPP1R14C', 'score': 23.4}, {'connected_gene': 'RNU4-7P', 'score': 11.9}, {'connected_gene': 'ENSG00000238594', 'score': 11.81}, {'connected_gene': 'LOC105378054', 'score': 0.21}, {'connected_gene': 'GC06M150158', 'score': 0.1}]
chr6	GH06I150606	150606080	150608265	0.66	[{'connected_gene': 'PPP1R14C', 'score': 4.71}, {'connected_gene': 'ENSG00000232891', 'score': 0.44}, {'connected_gene': 'PLEKHG1', 'score': 0.44}, {'connected_gene': 'ENSG00000224029', 'score': 0.37}]
chr6	GH06I150616	150616105	150618490	0.94	[{'connected_gene': 'PPP1R14C', 'score': 4.76}, {'connected_gene': 'ENSG00000224029', 'score': 0.44}, {'connected_gene': 'ENSG00000232891', 'score': 0.37}, {'connected_gene': 'PLEKHG1', 'score': 0.37}]
chr6	GH06I150072	150071001	150071600	1.03	[{'connected_gene': 'PPP1R14C', 'score': 11.04}, {'connected_gene': 'IYD', 'score': 10.53}, {'connected_gene': 'ULBP3', 'score': 0.77}]
chr6	GH06I150156	150156172	150157580	0.69	[{'connected_gene': 'PPP1R14C', 'score': 8.9}, {'connected_gene': 'IYD', 'score': 8.82}, {'connected_gene': 'ENSG00000238594', 'score': 0.44}]
chr6	GH06I150142	150142065	150146614	2.38	[{'connected_gene': 'PPP1R14C', 'score': 550.77}, {'connected_gene': 'NUP43', 'score': 15.57}, {'connected_gene': 'PPIL4', 'score': 13.33}, {'connected_gene': 'ENSG00000231760', 'score': 12.73}, {'connected_gene': 'KATNA1', 'score': 11.46}, {'connected_gene': 'LATS1', 'score': 11.35}, {'connected_gene': 'ENSG00000238594', 'score': 0.34}]
chr6	GH06I150263	150263653	150264602	0.38	[{'connected_gene': 'PPP1R14C', 'score': 7.5}, {'connected_gene': 'LOC105378054', 'score': 0.44}, {'connected_gene': 'GC06M150158', 'score': 0.15}, {'connected_gene': 'ENSG00000238594', 'score': 0.15}]
chr6	GH06I150238	150238400	150238694	0.89	[{'connected_gene': 'PPP1R14C', 'score': 6.79}, {'connected_gene': 'LOC105378054', 'score': 0.29}, {'connected_gene': 'ENSG00000238594', 'score': 0.19}, {'connected_gene': 'GC06M150158', 'score': 0.13}]
chr6	GH06I150186	150186625	150186774	0.84	[{'connected_gene': 'PPP1R14C', 'score': 11.6}, {'connected_gene': 'ENSG00000238594', 'score': 0.34}, {'connected_gene': 'LOC105378054', 'score': 0.18}, {'connected_gene': 'GC06M150158', 'score': 0.1}]
chr6	GH06I150176	150175547	150178465	1.47	[{'connected_gene': 'PPP1R14C', 'score': 7.87}, {'connected_gene': 'ENSG00000238594', 'score': 0.39}, {'connected_gene': 'LOC105378054', 'score': 0.16}, {'connected_gene': 'GC06M150158', 'score': 0.09}]
chr6	GH06I150175	150175163	150175469	0.31	[{'connected_gene': 'PPP1R14C', 'score': 6.87}, {'connected_gene': 'ENSG00000238594', 'score': 0.39}, {'connected_gene': 'LOC105378054', 'score': 0.16}, {'connected_gene': 'GC06M150158', 'score': 0.09}]
chr6	GH06I150147	150147505	150147654	0.57	[{'connected_gene': 'PPP1R14C', 'score': 0.77}, {'connected_gene': 'ENSG00000238594', 'score': 0.37}]
chr6	GH06I150071	150071814	150072787	1.04	[{'connected_gene': 'ULBP3', 'score': 11.37}, {'connected_gene': 'PPP1R14C', 'score': 11.04}, {'connected_gene': 'IYD', 'score': 10.53}]
chr6	GH06I150080	150080745	150080934	0.69	[{'connected_gene': 'RNU4-7P', 'score': 11.35}, {'connected_gene': 'PPP1R14C', 'score': 11.12}, {'connected_gene': 'ENSG00000238594', 'score': 10.92}, {'connected_gene': 'IYD', 'score': 10.7}, {'connected_gene': 'ULBP3', 'score': 0.39}]
chr6	GH06I150275	150275946	150277570	0.9	[{'connected_gene': 'RNU4-7P', 'score': 11.42}, {'connected_gene': 'ENSG00000238594', 'score': 10.54}, {'connected_gene': 'PPP1R14C', 'score': 5.55}, {'connected_gene': 'LOC105378054', 'score': 0.44}, {'connected_gene': 'GC06M150327', 'score': 0.23}, {'connected_gene': 'GC06M150158', 'score': 0.17}]
chr6	GH06I150230	150230846	150233220	0.46	[{'connected_gene': 'IYD', 'score': 10.35}, {'connected_gene': 'PPP1R14C', 'score': 5.85}, {'connected_gene': 'LOC105378054', 'score': 0.28}, {'connected_gene': 'ENSG00000238594', 'score': 0.2}, {'connected_gene': 'GC06M150158', 'score': 0.12}]
chr6	GH06I150152	150152825	150155038	0.94	[{'connected_gene': 'IYD', 'score': 9.86}, {'connected_gene': 'PPP1R14C', 'score': 9.26}, {'connected_gene': 'ENSG00000238594', 'score': 0.39}]
chr6	GH06I150229	150229865	150230014	0.79	[{'connected_gene': 'IYD', 'score': 10.12}, {'connected_gene': 'LOC105378054', 'score': 0.28}, {'connected_gene': 'ENSG00000238594', 'score': 0.2}, {'connected_gene': 'PPP1R14C', 'score': 0.17}, {'connected_gene': 'GC06M150158', 'score': 0.12}]
chr6	GH06I150195	150195940	150197514	1.08	[{'connected_gene': 'NUP43', 'score': 15.57}, {'connected_gene': 'PPIL4', 'score': 13.34}, {'connected_gene': 'ENSG00000231760', 'score': 12.73}, {'connected_gene': 'ENSG00000238594', 'score': 11.94}, {'connected_gene': 'KATNA1', 'score': 11.45}, {'connected_gene': 'RNU4-7P', 'score': 11.4}, {'connected_gene': 'LATS1', 'score': 11.35}, {'connected_gene': 'RAET1E', 'score': 10.4}, {'connected_gene': 'PPP1R14C', 'score': 8.36}, {'connected_gene': 'LOC105378054', 'score': 0.19}, {'connected_gene': 'GC06M150158', 'score': 0.1}]
chr6	GH06I150266	150266226	150274512	1.69	[{'connected_gene': 'LOC105378054', 'score': 550.77}, {'connected_gene': 'LATS1', 'score': 58.29}, {'connected_gene': 'NUP43', 'score': 48.07}, {'connected_gene': 'PPIL4', 'score': 36.89}, {'connected_gene': 'ENSG00000231760', 'score': 22.3}, {'connected_gene': 'KATNA1', 'score': 20.14}, {'connected_gene': 'RNU4-7P', 'score': 11.41}, {'connected_gene': 'ENSG00000238594', 'score': 10.55}, {'connected_gene': 'ENSG00000233330', 'score': 10.51}, {'connected_gene': 'PPP1R14C', 'score': 9.08}, {'connected_gene': 'RAET1G', 'score': 2.61}, {'connected_gene': 'GC06M150327', 'score': 0.22}, {'connected_gene': 'GC06M150158', 'score': 0.16}]
chr6	GH06I150169	150169785	150169934	0.9	[{'connected_gene': 'ENSG00000238594', 'score': 0.44}, {'connected_gene': 'PPP1R14C', 'score': 0.31}, {'connected_gene': 'LOC105378054', 'score': 0.15}, {'connected_gene': 'GC06M150158', 'score': 0.08}]
chr6	GH06I150184	150184102	150184583	0.38	[{'connected_gene': 'ENSG00000238594', 'score': 0.37}, {'connected_gene': 'PPP1R14C', 'score': 0.26}, {'connected_gene': 'LOC105378054', 'score': 0.17}, {'connected_gene': 'GC06M150158', 'score': 0.1}]
chr6	GH06I150185	150184657	150185889	0.69	[{'connected_gene': 'ENSG00000238594', 'score': 0.34}, {'connected_gene': 'PPP1R14C', 'score': 0.26}, {'connected_gene': 'LOC105378054', 'score': 0.18}, {'connected_gene': 'GC06M150158', 'score': 0.1}]
chr6	GH06I150183	150183258	150183690	0.31	[{'connected_gene': 'ENSG00000238594', 'score': 0.37}, {'connected_gene': 'PPP1R14C', 'score': 0.26}, {'connected_gene': 'LOC105378054', 'score': 0.17}, {'connected_gene': 'GC06M150158', 'score': 0.1}]
chr6	GH06I150250	150250413	150258403	1.64	[{'connected_gene': 'ENSG00000268592', 'score': 15.94}, {'connected_gene': 'NUP43', 'score': 15.55}, {'connected_gene': 'ENSG00000216906', 'score': 15.04}, {'connected_gene': 'PPIL4', 'score': 13.33}, {'connected_gene': 'ENSG00000231760', 'score': 12.72}, {'connected_gene': 'KATNA1', 'score': 11.45}, {'connected_gene': 'LRP11', 'score': 11.34}, {'connected_gene': 'LATS1', 'score': 11.33}, {'connected_gene': 'ENSG00000238594', 'score': 11.3}, {'connected_gene': 'PPP1R14C', 'score': 10.82}, {'connected_gene': 'RAET1G', 'score': 3.97}, {'connected_gene': 'ULBP2', 'score': 1.63}, {'connected_gene': 'RAET1L', 'score': 1.25}, {'connected_gene': 'LOC105378054', 'score': 0.37}, {'connected_gene': 'GC06M150158', 'score': 0.14}]