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
ENST00000341901	[[28303839, 28304621], [28328705, 28328938], [28330315, 28330518], [28331396, 28335170]]	[[28328712, 28328938], [28330315, 28330518], [28331396, 28332242]]
NM_001024401	[[28303839, 28304621], [28328705, 28328938], [28330315, 28330518], [28331396, 28335170]]	[[28328712, 28328938], [28330315, 28330518], [28331396, 28332242]]

Promoter

Chrom	Start	End	Description
chr16	28303782	28303797	CAGE_peak_3_at_SBK1_5end
chr16	28303804	28303864	CAGE_peak_1_at_SBK1_5end
chr16	28303874	28303916	CAGE_peak_2_at_SBK1_5end
chr16	28304305	28304313	CAGE_peak_6_at_SBK1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I028617	28617256	28618405	1.18	[{'connected_gene': 'TUFM', 'score': 38.91}, {'connected_gene': 'IL27', 'score': 7.03}, {'connected_gene': 'SBK1', 'score': 1.36}, {'connected_gene': 'PIR38771', 'score': 0.77}, {'connected_gene': 'SULT1A1', 'score': 0.44}]
chr16	GH16I028308	28308033	28313799	1.39	[{'connected_gene': 'SBK1', 'score': 550.23}, {'connected_gene': 'EIF3C', 'score': 6.18}, {'connected_gene': 'NFATC2IP', 'score': 5.08}, {'connected_gene': 'CDC37P1', 'score': 4.92}, {'connected_gene': 'GC16P028319', 'score': 0.44}, {'connected_gene': 'ENSG00000246465', 'score': 0.37}]
chr16	GH16I028258	28258131	28259288	0.38	[{'connected_gene': 'SBK1', 'score': 550.77}, {'connected_gene': 'ENSG00000283662', 'score': 550.77}, {'connected_gene': 'XPO6', 'score': 7.04}, {'connected_gene': 'ENSG00000246465', 'score': 0.29}]
chr16	GH16I028070	28070840	28070989	0.59	[{'connected_gene': 'SBK1', 'score': 9.23}, {'connected_gene': 'ENSG00000246465', 'score': 9.22}, {'connected_gene': 'GSG1L', 'score': 0.44}, {'connected_gene': 'GC16P028082', 'score': 0.39}]
chr16	GH16I028585	28585600	28586469	0.59	[{'connected_gene': 'SH2B1', 'score': 24.72}, {'connected_gene': 'ENSG00000261766', 'score': 23.14}, {'connected_gene': 'ATXN2L', 'score': 12.96}, {'connected_gene': 'SGF29', 'score': 12.36}, {'connected_gene': 'NPIPB7', 'score': 11.56}, {'connected_gene': 'NPIPB12', 'score': 11.22}, {'connected_gene': 'ENSG00000246465', 'score': 10.36}, {'connected_gene': 'SBK1', 'score': 10.35}, {'connected_gene': 'ENSG00000260796', 'score': 9.97}, {'connected_gene': 'GC16P028596', 'score': 0.39}, {'connected_gene': 'GC16M028560', 'score': 0.37}]
chr16	GH16I028148	28148674	28150658	1.02	[{'connected_gene': 'XPO6', 'score': 36.74}, {'connected_gene': 'APOBR', 'score': 14.91}, {'connected_gene': 'ENSG00000200652', 'score': 12.27}, {'connected_gene': 'RNY1P10', 'score': 12.25}, {'connected_gene': 'GSG1L', 'score': 10.34}, {'connected_gene': 'SBK1', 'score': 10.23}, {'connected_gene': 'ENSG00000246465', 'score': 10.19}, {'connected_gene': 'SULT1A1', 'score': 3.81}, {'connected_gene': 'GC16P028181', 'score': 0.31}, {'connected_gene': 'TPRKBP2', 'score': 0.28}]
chr16	GH16I028260	28260794	28262799	0.38	[{'connected_gene': 'XPO6', 'score': 4.64}, {'connected_gene': 'SBK1', 'score': 0.77}, {'connected_gene': 'ENSG00000283662', 'score': 0.77}, {'connected_gene': 'ENSG00000246465', 'score': 0.29}]
chr16	GH16I028092	28092469	28094246	0.81	[{'connected_gene': 'GSG1L', 'score': 12.09}, {'connected_gene': 'ENSG00000200652', 'score': 10.94}, {'connected_gene': 'RNY1P10', 'score': 10.94}, {'connected_gene': 'XPO6', 'score': 8.36}, {'connected_gene': 'APOBR', 'score': 2.29}, {'connected_gene': 'SBK1', 'score': 2.27}, {'connected_gene': 'GC16P028082', 'score': 0.39}, {'connected_gene': 'TPRKBP2', 'score': 0.37}]
chr16	GH16I028277	28277200	28278709	1.16	[{'connected_gene': 'ENSG00000260853', 'score': 17.67}, {'connected_gene': 'SPNS1', 'score': 16.6}, {'connected_gene': 'ENSG00000260367', 'score': 15.41}, {'connected_gene': 'NFATC2IP', 'score': 13.55}, {'connected_gene': 'CLN3', 'score': 12.78}, {'connected_gene': 'RRN3P2', 'score': 11.38}, {'connected_gene': 'ATXN2L', 'score': 10.71}, {'connected_gene': 'ENSG00000246465', 'score': 0.39}, {'connected_gene': 'ENSG00000283662', 'score': 0.37}, {'connected_gene': 'SBK1', 'score': 0.37}]
chr16	GH16I028316	28316909	28317749	0.75	[{'connected_gene': 'GC16P028319', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 4.67}, {'connected_gene': 'ENSG00000246465', 'score': 0.31}, {'connected_gene': 'SBK1', 'score': 0.22}]
chr16	GH16I028292	28291001	28291200	0.38	[{'connected_gene': 'ENSG00000246465', 'score': 550.77}, {'connected_gene': 'NPIPB7', 'score': 10.38}, {'connected_gene': 'SBK1', 'score': 0.29}, {'connected_gene': 'ENSG00000283662', 'score': 0.29}]
chr16	GH16I028291	28291511	28294018	1.93	[{'connected_gene': 'ENSG00000246465', 'score': 550.77}, {'connected_gene': 'SBK1', 'score': 550.29}, {'connected_gene': 'SULT1A2', 'score': 13.75}, {'connected_gene': 'NPIPB7', 'score': 10.38}, {'connected_gene': 'EIF3C', 'score': 5.57}, {'connected_gene': 'CDC37P1', 'score': 4.63}, {'connected_gene': 'GC16P028319', 'score': 0.31}, {'connected_gene': 'ENSG00000283662', 'score': 0.29}]
chr16	GH16I028191	28191019	28197882	1.6	[{'connected_gene': 'GC16M028181', 'score': 550.77}, {'connected_gene': 'SBK1', 'score': 11.69}, {'connected_gene': 'XPO6', 'score': 10.54}, {'connected_gene': 'ENSG00000246465', 'score': 10.34}, {'connected_gene': 'SGF29', 'score': 2.43}, {'connected_gene': 'APOBR', 'score': 1.69}, {'connected_gene': 'RNY1P10', 'score': 0.39}]
chr16	GH16I028324	28324175	28325329	0.82	[{'connected_gene': 'ENSG00000246465', 'score': 12.16}, {'connected_gene': 'SBK1', 'score': 12.07}, {'connected_gene': 'GSG1L', 'score': 9.66}, {'connected_gene': 'EIF3C', 'score': 4.4}, {'connected_gene': 'GC16P028321', 'score': 0.77}, {'connected_gene': 'GC16P028319', 'score': 0.44}, {'connected_gene': 'ENSG00000277191', 'score': 0.37}]
chr16	GH16I028327	28327000	28327169	0.74	[{'connected_gene': 'ENSG00000246465', 'score': 12.14}, {'connected_gene': 'SBK1', 'score': 12.07}, {'connected_gene': 'GSG1L', 'score': 9.66}, {'connected_gene': 'GC16P028319', 'score': 0.44}, {'connected_gene': 'GC16P028321', 'score': 0.44}, {'connected_gene': 'ENSG00000277191', 'score': 0.39}]
chr16	GH16I028321	28321860	28322009	0.62	[{'connected_gene': 'GC16P028321', 'score': 550.77}, {'connected_gene': 'ENSG00000246465', 'score': 12.18}, {'connected_gene': 'SBK1', 'score': 12.07}, {'connected_gene': 'GSG1L', 'score': 9.67}, {'connected_gene': 'GC16P028319', 'score': 0.77}, {'connected_gene': 'ENSG00000277191', 'score': 0.37}]
chr16	GH16I027840	27840038	27840055	0.24	[{'connected_gene': 'GC16P027839', 'score': 550.77}, {'connected_gene': 'ENSG00000251417', 'score': 4.99}, {'connected_gene': 'SBK1', 'score': 4.25}, {'connected_gene': 'GC16P027863', 'score': 0.34}, {'connected_gene': 'GSG1L', 'score': 0.07}]
chr16	GH16I028329	28329860	28330641	0.72	[{'connected_gene': 'ENSG00000246465', 'score': 11.72}, {'connected_gene': 'SBK1', 'score': 11.64}, {'connected_gene': 'GC16P028321', 'score': 0.44}, {'connected_gene': 'ENSG00000277191', 'score': 0.39}, {'connected_gene': 'GC16P028319', 'score': 0.39}]
chr16	GH16I028288	28288240	28288389	0.2	[{'connected_gene': 'ENSG00000246465', 'score': 0.77}, {'connected_gene': 'SBK1', 'score': 0.31}, {'connected_gene': 'ENSG00000283662', 'score': 0.31}]
chr16	GH16I028296	28296655	28298049	0.49	[{'connected_gene': 'ENSG00000246465', 'score': 0.44}, {'connected_gene': 'GC16P028319', 'score': 0.34}, {'connected_gene': 'SBK1', 'score': 0.28}]
chr16	GH16I028298	28298600	28298749	0.49	[{'connected_gene': 'ENSG00000246465', 'score': 0.44}, {'connected_gene': 'GC16P028319', 'score': 0.34}, {'connected_gene': 'SBK1', 'score': 0.28}]
chr16	GH16I028145	28145401	28147292	0.94	[{'connected_gene': 'ENSG00000200652', 'score': 12.25}, {'connected_gene': 'RNY1P10', 'score': 12.23}, {'connected_gene': 'SBK1', 'score': 10.22}, {'connected_gene': 'ENSG00000246465', 'score': 10.19}, {'connected_gene': 'XPO6', 'score': 8.54}, {'connected_gene': 'GC16P028181', 'score': 0.29}, {'connected_gene': 'TPRKBP2', 'score': 0.29}]
chr16	GH16I028129	28129870	28131758	0.63	[{'connected_gene': 'ENSG00000200652', 'score': 11.31}, {'connected_gene': 'RNY1P10', 'score': 11.29}, {'connected_gene': 'GSG1L', 'score': 10.76}, {'connected_gene': 'SBK1', 'score': 10.25}, {'connected_gene': 'ENSG00000246465', 'score': 10.22}, {'connected_gene': 'XPO6', 'score': 8.64}, {'connected_gene': 'TPRKBP2', 'score': 0.37}, {'connected_gene': 'GC16P028181', 'score': 0.25}]