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
ENST00000294964	[[42275159, 42275978], [42280378, 42280501], [42281175, 42281447], [42282080, 42282160], [42282425, 42282533], [42284360, 42284534], [42284742, 42285668]]	[[42275339, 42275978], [42280378, 42280501], [42281175, 42281447], [42282080, 42282160], [42282425, 42282533], [42284360, 42284534], [42284742, 42284828]]
ENST00000401498	[[42275183, 42275537], [42275679, 42275978], [42280378, 42280501], [42281175, 42281447], [42282080, 42282160], [42282425, 42282533], [42284360, 42284534], [42284742, 42284882]]	[[42275339, 42275537], [42275679, 42275978], [42280378, 42280427]]
ENST00000485578	[[42275718, 42275978], [42280378, 42280681]]	None
ENST00000492861	[[42275913, 42275978], [42280378, 42280501], [42281175, 42281680]]	None
ENST00000475868	[[42281781, 42282160], [42282425, 42282771]]	None
ENST00000475241	[[42281946, 42282533], [42284360, 42284546]]	None
ENST00000490302	[[42282070, 42282160], [42282425, 42282533], [42284360, 42285609]]	None
ENST00000470578	[[42282081, 42282160], [42282332, 42282533], [42284360, 42284534], [42284742, 42285053]]	None
ENST00000480099	[[42282096, 42282160], [42284395, 42284534], [42284742, 42285326]]	None
NM_138370	[[42275160, 42275978], [42280378, 42280501], [42281175, 42281447], [42282080, 42282160], [42282425, 42282533], [42284360, 42284534], [42284742, 42285668]]	[[42275339, 42275978], [42280378, 42280501], [42281175, 42281447], [42282080, 42282160], [42282425, 42282533], [42284360, 42284534], [42284742, 42284828]]

Promoter

Chrom	Start	End	Description
chr2	42275153	42275171	CAGE_peak_1_at_PKDCC_5end
chr2	42281193	42281216	CAGE_peak_4_at_PKDCC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I041884	41884988	41885680	0.2	[{'connected_gene': 'PKDCC', 'score': 5.08}, {'connected_gene': 'C2orf91', 'score': 4.73}, {'connected_gene': 'GC02P041891', 'score': 0.44}, {'connected_gene': 'LINC01913', 'score': 0.44}]
chr2	GH02I041878	41878334	41880094	1.02	[{'connected_gene': 'PKDCC', 'score': 19.25}, {'connected_gene': 'C2orf91', 'score': 16.7}, {'connected_gene': 'LINC01913', 'score': 0.77}, {'connected_gene': 'GC02P041891', 'score': 0.39}]
chr2	GH02I042071	42071554	42075442	1.07	[{'connected_gene': 'PKDCC', 'score': 12.92}, {'connected_gene': 'C2orf91', 'score': 7.02}, {'connected_gene': 'LOC105374531', 'score': 0.34}]
chr2	GH02I042045	42045156	42065461	2.43	[{'connected_gene': 'PKDCC', 'score': 556.43}, {'connected_gene': 'C2orf91', 'score': 11.25}, {'connected_gene': 'LOC105374531', 'score': 0.26}]
chr2	GH02I041998	41998146	41999495	0.4	[{'connected_gene': 'PKDCC', 'score': 11.02}, {'connected_gene': 'C2orf91', 'score': 5.62}, {'connected_gene': 'PIR36889', 'score': 0.77}, {'connected_gene': 'GC02M042002', 'score': 0.77}, {'connected_gene': 'LOC105374517', 'score': 0.39}]
chr2	GH02I041894	41894507	41896241	0.85	[{'connected_gene': 'PKDCC', 'score': 11.3}, {'connected_gene': 'C2orf91', 'score': 4.84}, {'connected_gene': 'GC02P041891', 'score': 0.77}, {'connected_gene': 'LINC01914', 'score': 0.28}]
chr2	GH02I041908	41908984	41910532	0.64	[{'connected_gene': 'PKDCC', 'score': 18.37}, {'connected_gene': 'C2orf91', 'score': 9.91}, {'connected_gene': 'LINC01914', 'score': 9.01}, {'connected_gene': 'GC02P041891', 'score': 0.37}]
chr2	GH02I041910	41910943	41916113	0.65	[{'connected_gene': 'PKDCC', 'score': 19.23}, {'connected_gene': 'C2orf91', 'score': 11.84}, {'connected_gene': 'LINC01914', 'score': 11.57}, {'connected_gene': 'GC02P041891', 'score': 0.34}]
chr2	GH02I041943	41943993	41944984	0.2	[{'connected_gene': 'PKDCC', 'score': 11.12}, {'connected_gene': 'C2orf91', 'score': 0.44}, {'connected_gene': 'LINC01914', 'score': 0.39}]
chr2	GH02I041946	41946997	41950144	0.76	[{'connected_gene': 'PKDCC', 'score': 7.96}, {'connected_gene': 'C2orf91', 'score': 7.62}, {'connected_gene': 'LINC01914', 'score': 6.7}]
chr2	GH02I042021	42021431	42022290	0.31	[{'connected_gene': 'PKDCC', 'score': 11.25}, {'connected_gene': 'C2orf91', 'score': 5.21}, {'connected_gene': 'ENSG00000226398', 'score': 0.77}, {'connected_gene': 'PIR36889', 'score': 0.37}, {'connected_gene': 'GC02M042002', 'score': 0.37}]
chr2	GH02I042083	42083656	42085985	1.02	[{'connected_gene': 'PKDCC', 'score': 17.49}, {'connected_gene': 'EML4', 'score': 10.36}, {'connected_gene': 'LOC102723824', 'score': 10.35}, {'connected_gene': 'LOC105374531', 'score': 0.39}]
chr2	GH02I041770	41770130	41770411	0.33	[{'connected_gene': 'PKDCC', 'score': 4.03}, {'connected_gene': 'LOC105374506', 'score': 0.39}, {'connected_gene': 'LDHAP3', 'score': 0.25}]
chr2	GH02I041660	41660218	41660572	0.22	[{'connected_gene': 'PKDCC', 'score': 1.66}, {'connected_gene': 'LOC105374506', 'score': 0.15}, {'connected_gene': 'GC02P041527', 'score': 0.12}]
chr2	GH02I042086	42086401	42087000	0.96	[{'connected_gene': 'PKDCC', 'score': 17.26}, {'connected_gene': 'LOC102723824', 'score': 10.84}, {'connected_gene': 'EML4', 'score': 10.84}, {'connected_gene': 'LOC105374531', 'score': 0.39}]
chr2	GH02I041905	41905776	41908600	0.97	[{'connected_gene': 'PKDCC', 'score': 18.01}, {'connected_gene': 'LINC01914', 'score': 8.72}, {'connected_gene': 'C2orf91', 'score': 7.27}, {'connected_gene': 'GC02P041891', 'score': 0.37}]
chr2	GH02I041925	41925942	41929252	1.03	[{'connected_gene': 'PKDCC', 'score': 21.16}, {'connected_gene': 'LINC01914', 'score': 14.41}, {'connected_gene': 'C2orf91', 'score': 8.9}, {'connected_gene': 'GC02P041891', 'score': 0.28}]
chr2	GH02I041896	41896351	41897226	0.52	[{'connected_gene': 'PKDCC', 'score': 11.3}, {'connected_gene': 'GC02P041891', 'score': 0.77}, {'connected_gene': 'LINC01914', 'score': 0.28}]
chr2	GH02I042017	42017874	42018015	0.25	[{'connected_gene': 'PKDCC', 'score': 13.27}, {'connected_gene': 'ENSG00000226398', 'score': 0.44}, {'connected_gene': 'PIR36889', 'score': 0.37}, {'connected_gene': 'GC02M042002', 'score': 0.37}]
chr2	GH02I041819	41819391	41819986	0.24	[{'connected_gene': 'LDHAP3', 'score': 550.77}, {'connected_gene': 'PKDCC', 'score': 4.88}, {'connected_gene': 'GC02P041824', 'score': 0.77}]
chr2	GH02I041954	41954172	41958322	1.17	[{'connected_gene': 'C2orf91', 'score': 550.77}, {'connected_gene': 'PKDCC', 'score': 9.05}, {'connected_gene': 'LINC01914', 'score': 4.94}, {'connected_gene': 'GC02P041958', 'score': 0.77}]
chr2	GH02I042009	42009207	42009593	0.39	[{'connected_gene': 'C2orf91', 'score': 8.97}, {'connected_gene': 'PKDCC', 'score': 6.33}, {'connected_gene': 'PIR36889', 'score': 0.44}, {'connected_gene': 'GC02M042002', 'score': 0.44}, {'connected_gene': 'ENSG00000226398', 'score': 0.37}]
chr2	GH02I042044	42044462	42044884	0.38	[{'connected_gene': 'C2orf91', 'score': 9.05}, {'connected_gene': 'PKDCC', 'score': 0.77}, {'connected_gene': 'ENSG00000226398', 'score': 0.37}]
chr2	GH02I042031	42031782	42032749	0.52	[{'connected_gene': 'C2orf91', 'score': 9.82}, {'connected_gene': 'ENSG00000226398', 'score': 0.44}, {'connected_gene': 'PKDCC', 'score': 0.37}]
chr2	GH02I042041	42040629	42041918	0.58	[{'connected_gene': 'C2orf91', 'score': 9.33}, {'connected_gene': 'PKDCC', 'score': 0.44}, {'connected_gene': 'ENSG00000226398', 'score': 0.37}]
chr2	GH02I042040	42040216	42040442	0.2	[{'connected_gene': 'C2orf91', 'score': 7.34}, {'connected_gene': 'PKDCC', 'score': 4.91}, {'connected_gene': 'ENSG00000226398', 'score': 0.37}]
chr2	GH02I041936	41936861	41942178	1	[{'connected_gene': 'C2orf91', 'score': 17.15}, {'connected_gene': 'LINC01914', 'score': 12.96}, {'connected_gene': 'PKDCC', 'score': 10.03}]
chr2	GH02I041826	41826539	41826851	0.23	[{'connected_gene': 'LINC01913', 'score': 5.02}, {'connected_gene': 'PKDCC', 'score': 2.57}, {'connected_gene': 'GC02P041824', 'score': 0.77}, {'connected_gene': 'RPS12P4', 'score': 0.34}]
chr2	GH02I042067	42067625	42068569	0.43	[{'connected_gene': 'EML4', 'score': 4.75}, {'connected_gene': 'PKDCC', 'score': 0.34}, {'connected_gene': 'LOC105374531', 'score': 0.31}]
chr2	GH02I042097	42097001	42109815	1.73	[{'connected_gene': 'EML4', 'score': 35.71}, {'connected_gene': 'PKDCC', 'score': 15.66}, {'connected_gene': 'LOC102723824', 'score': 12.03}, {'connected_gene': 'COX7A2L', 'score': 9.86}, {'connected_gene': 'LOC105374531', 'score': 0.44}]
chr2	GH02I041962	41962781	41968660	1.92	[{'connected_gene': 'EML4', 'score': 11.13}, {'connected_gene': 'C2orf91', 'score': 5.63}, {'connected_gene': 'PKDCC', 'score': 2.25}, {'connected_gene': 'PIR60525', 'score': 0.77}, {'connected_gene': 'GC02P041958', 'score': 0.44}]
chr2	GH02I042091	42091829	42093171	1.31	[{'connected_gene': 'EML4', 'score': 17.4}, {'connected_gene': 'LOC102723824', 'score': 11.99}, {'connected_gene': 'PKDCC', 'score': 10.81}, {'connected_gene': 'LOC105374531', 'score': 0.44}]
chr2	GH02I042095	42095783	42096565	1.24	[{'connected_gene': 'LOC105374531', 'score': 550.77}, {'connected_gene': 'EML4', 'score': 17.97}, {'connected_gene': 'LOC102723824', 'score': 12.02}, {'connected_gene': 'PKDCC', 'score': 10.79}, {'connected_gene': 'COX7A2L', 'score': 9.86}]
chr2	GH02I041922	41922144	41923804	1.55	[{'connected_gene': 'LINC01914', 'score': 15.37}, {'connected_gene': 'PKDCC', 'score': 12.24}, {'connected_gene': 'GC02P041891', 'score': 0.29}]
chr2	GH02I041930	41930526	41935108	1.54	[{'connected_gene': 'LINC01914', 'score': 550.77}, {'connected_gene': 'C2orf91', 'score': 27.51}, {'connected_gene': 'PKDCC', 'score': 21.74}, {'connected_gene': 'GC02P041891', 'score': 0.26}]
chr2	GH02I042028	42028201	42030828	0.85	[{'connected_gene': 'ENSG00000226398', 'score': 0.77}, {'connected_gene': 'PKDCC', 'score': 0.37}]
chr2	GH02I042024	42024629	42026059	0.87	[{'connected_gene': 'ENSG00000226398', 'score': 550.77}, {'connected_gene': 'C2orf91', 'score': 10.52}, {'connected_gene': 'PKDCC', 'score': 0.34}]