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
ENST00000262288	[[55055465, 55055596], [55058442, 55058591], [55062738, 55062828], [55065055, 55065211], [55065576, 55065651], [55068459, 55068532], [55072341, 55072379], [55072867, 55072996], [55074322, 55074416], [55075745, 55075859], [55078215, 55078353], [55079378, 55079542], [55083533, 55084124]]	[[55055520, 55055596], [55058442, 55058591], [55062738, 55062828], [55065055, 55065211], [55065576, 55065651], [55068459, 55068532], [55072341, 55072379], [55072867, 55072996], [55074322, 55074416], [55075745, 55075859], [55078215, 55078353], [55079378, 55079542], [55083533, 55083596]]
ENST00000575423	[[55055489, 55055596], [55058477, 55058591], [55062738, 55062828], [55065055, 55065211], [55065576, 55065651], [55068459, 55068532], [55072341, 55072379], [55072867, 55072996], [55074322, 55074416], [55075745, 55075859], [55078215, 55078353], [55079378, 55079542], [55083533, 55083966]]	[[55055520, 55055596], [55058477, 55058591], [55062738, 55062758]]
ENST00000571345	[[55055491, 55055596], [55058442, 55058591], [55062738, 55062828], [55065055, 55065211], [55065576, 55065651], [55068459, 55068532], [55072265, 55072336]]	None
ENST00000572591	[[55055491, 55055596], [55058442, 55058591], [55062738, 55062788], [55068459, 55068532], [55072341, 55072379], [55072867, 55072996], [55074322, 55074357]]	[[55055520, 55055596], [55058442, 55058591], [55062738, 55062788], [55068459, 55068532], [55072341, 55072379], [55072867, 55072925]]
ENST00000572710	[[55055494, 55055596], [55058442, 55058591], [55065055, 55065211], [55065576, 55065651], [55068459, 55068532]]	[[55055520, 55055596], [55058442, 55058591], [55065055, 55065211], [55065576, 55065651], [55068459, 55068532]]
ENST00000575395	[[55055494, 55055596], [55062738, 55062828], [55065055, 55065211], [55065576, 55065651], [55068459, 55068532], [55072341, 55072379], [55072867, 55072905]]	[[55065148, 55065211], [55065576, 55065651], [55068459, 55068532], [55072341, 55072379], [55072867, 55072905]]
ENST00000573823	[[55055497, 55055596], [55058442, 55058591], [55062738, 55062828], [55064601, 55064693], [55065055, 55065206]]	None
ENST00000576154	[[55055508, 55055596], [55058442, 55058591], [55062738, 55062828], [55065055, 55065211], [55065576, 55065651], [55068459, 55068532], [55072341, 55072379], [55072867, 55072996], [55074322, 55074416], [55075734, 55075859], [55078215, 55078353], [55079378, 55079542], [55083533, 55084129]]	[[55055520, 55055596], [55058442, 55058591], [55062738, 55062828], [55065055, 55065211], [55065576, 55065651], [55068459, 55068532], [55072341, 55072379], [55072867, 55072996], [55074322, 55074416], [55075734, 55075745]]
ENST00000571898	[[55055513, 55055596], [55058442, 55058591], [55062738, 55062828], [55065055, 55065211], [55065576, 55065651], [55068459, 55068532], [55072341, 55072379], [55072807, 55072865]]	None
ENST00000570480	[[55064450, 55065211], [55065576, 55065651], [55068459, 55068532], [55072265, 55072996], [55074322, 55074463]]	None
ENST00000570589	[[55064922, 55065211], [55065576, 55065651], [55068459, 55068532], [55072341, 55072379], [55072867, 55072996], [55074322, 55074496]]	None
ENST00000573789	[[55065112, 55065211], [55065576, 55065651], [55068459, 55068532], [55072341, 55072379], [55072867, 55073236]]	None
ENST00000570505	[[55072920, 55072996], [55074322, 55074416], [55075328, 55075686]]	None
ENST00000573239	[[55074374, 55074416], [55078215, 55078353], [55079378, 55079542], [55083533, 55084119]]	[[55074374, 55074416], [55078215, 55078353], [55079378, 55079542], [55083533, 55083596]]
ENST00000570479	[[55075651, 55075859], [55078215, 55078353], [55079378, 55079542], [55083533, 55083947]]	None
NM_021626	[[55055467, 55055596], [55058442, 55058591], [55062738, 55062828], [55065055, 55065211], [55065576, 55065651], [55068459, 55068532], [55072341, 55072379], [55072867, 55072996], [55074322, 55074416], [55075745, 55075859], [55078215, 55078353], [55079378, 55079542], [55083533, 55084129]]	[[55055520, 55055596], [55058442, 55058591], [55062738, 55062828], [55065055, 55065211], [55065576, 55065651], [55068459, 55068532], [55072341, 55072379], [55072867, 55072996], [55074322, 55074416], [55075745, 55075859], [55078215, 55078353], [55079378, 55079542], [55083533, 55083596]]

Promoter

Chrom	Start	End	Description
chr17	55055472	55055522	CAGE_peak_1_at_SCPEP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I056777	56777978	56778161	0.24	[{'connected_gene': 'NOG', 'score': 11.07}, {'connected_gene': 'TRIM25', 'score': 6.43}, {'connected_gene': 'SCPEP1', 'score': 4.26}, {'connected_gene': 'GC17M056765', 'score': 0.44}, {'connected_gene': 'GC17M056800', 'score': 0.34}, {'connected_gene': 'GC17M056657', 'score': 0.15}]
chr17	GH17I056911	56911602	56918381	2.66	[{'connected_gene': 'TRIM25', 'score': 575.96}, {'connected_gene': 'ENSG00000274213', 'score': 550.77}, {'connected_gene': 'DGKE', 'score': 23.59}, {'connected_gene': 'ENSG00000262298', 'score': 22.1}, {'connected_gene': 'SCPEP1', 'score': 17.48}]
chr17	GH17I056909	56909814	56911077	1.48	[{'connected_gene': 'TRIM25', 'score': 28.21}, {'connected_gene': 'SCPEP1', 'score': 16.32}, {'connected_gene': 'MIR3614', 'score': 0.37}]
chr17	GH17I056918	56918601	56919800	1.47	[{'connected_gene': 'TRIM25', 'score': 19.95}, {'connected_gene': 'SCPEP1', 'score': 5.21}, {'connected_gene': 'ENSG00000274213', 'score': 0.44}, {'connected_gene': 'ENSG00000262298', 'score': 0.34}]
chr17	GH17I056919	56919880	56919999	0.59	[{'connected_gene': 'TRIM25', 'score': 21.65}, {'connected_gene': 'SCPEP1', 'score': 3.89}, {'connected_gene': 'ENSG00000274213', 'score': 0.44}, {'connected_gene': 'ENSG00000262298', 'score': 0.37}]
chr17	GH17I057009	57009771	57010506	0.96	[{'connected_gene': 'SCPEP1', 'score': 11.69}, {'connected_gene': 'AKAP1', 'score': 11.22}, {'connected_gene': 'ENSG00000263120', 'score': 0.31}, {'connected_gene': 'RNF126P1', 'score': 0.28}]
chr17	GH17I056907	56907812	56909478	0.86	[{'connected_gene': 'SCPEP1', 'score': 7.05}, {'connected_gene': 'TRIM25', 'score': 0.44}, {'connected_gene': 'MIR3614', 'score': 0.37}]
chr17	GH17I057003	57003671	57006425	0.83	[{'connected_gene': 'SCPEP1', 'score': 23.53}, {'connected_gene': 'ENSG00000263120', 'score': 0.34}, {'connected_gene': 'RNF126P1', 'score': 0.26}]
chr17	GH17I057015	57015720	57017184	0.69	[{'connected_gene': 'SCPEP1', 'score': 9.0}, {'connected_gene': 'RNF126P1', 'score': 0.31}, {'connected_gene': 'ENSG00000263120', 'score': 0.29}]
chr17	GH17I056977	56977060	56979473	1.96	[{'connected_gene': 'SCPEP1', 'score': 577.87}, {'connected_gene': 'ENSG00000263120', 'score': 0.77}]
chr17	GH17I057045	57045401	57047230	0.76	[{'connected_gene': 'RNF126P1', 'score': 569.61}, {'connected_gene': 'PIR52728', 'score': 550.77}, {'connected_gene': 'GC17P057058', 'score': 550.77}, {'connected_gene': 'PIR39555', 'score': 550.77}, {'connected_gene': 'GC17P057056', 'score': 550.77}, {'connected_gene': 'AKAP1', 'score': 11.06}, {'connected_gene': 'SCPEP1', 'score': 10.16}, {'connected_gene': 'GC17P057057', 'score': 0.77}]
chr17	GH17I056784	56784747	56788329	1.6	[{'connected_gene': 'C17orf67', 'score': 17.08}, {'connected_gene': 'NOG', 'score': 10.97}, {'connected_gene': 'TRIM25', 'score': 8.71}, {'connected_gene': 'SCPEP1', 'score': 6.4}, {'connected_gene': 'GC17M056800', 'score': 0.37}, {'connected_gene': 'GC17M056765', 'score': 0.37}, {'connected_gene': 'GC17M056657', 'score': 0.17}]
chr17	GH17I056934	56934360	56934509	0.38	[{'connected_gene': 'C17orf67', 'score': 11.47}, {'connected_gene': 'SCPEP1', 'score': 10.95}, {'connected_gene': 'ENSG00000262298', 'score': 0.44}, {'connected_gene': 'ENSG00000274213', 'score': 0.34}]
chr17	GH17I056937	56937089	56937321	0.49	[{'connected_gene': 'C17orf67', 'score': 11.47}, {'connected_gene': 'SCPEP1', 'score': 10.95}, {'connected_gene': 'ENSG00000262298', 'score': 0.77}, {'connected_gene': 'ENSG00000274213', 'score': 0.34}]
chr17	GH17I056938	56937720	56937869	0.71	[{'connected_gene': 'C17orf67', 'score': 11.47}, {'connected_gene': 'SCPEP1', 'score': 10.95}, {'connected_gene': 'ENSG00000262298', 'score': 0.77}, {'connected_gene': 'ENSG00000274213', 'score': 0.34}]
chr17	GH17I056901	56901335	56903173	0.79	[{'connected_gene': 'RNU6-1158P', 'score': 12.23}, {'connected_gene': 'C17orf67', 'score': 11.66}, {'connected_gene': 'SCPEP1', 'score': 7.93}, {'connected_gene': 'TRIM25', 'score': 0.39}, {'connected_gene': 'MIR3614', 'score': 0.39}]
chr17	GH17I056898	56898529	56900088	0.46	[{'connected_gene': 'RNU6-1158P', 'score': 12.24}, {'connected_gene': 'C17orf67', 'score': 11.66}, {'connected_gene': 'SCPEP1', 'score': 8.87}, {'connected_gene': 'MIR3614', 'score': 0.44}, {'connected_gene': 'TRIM25', 'score': 0.39}]
chr17	GH17I056889	56889978	56892240	0.67	[{'connected_gene': 'MIR3614', 'score': 550.77}, {'connected_gene': 'TRIM25', 'score': 12.58}, {'connected_gene': 'C17orf67', 'score': 11.23}, {'connected_gene': 'SCPEP1', 'score': 10.64}, {'connected_gene': 'ENSG00000262112', 'score': 0.77}]
chr17	GH17I057084	57084201	57089709	2.51	[{'connected_gene': 'ENSG00000263004', 'score': 576.48}, {'connected_gene': 'AKAP1', 'score': 559.37}, {'connected_gene': 'SRSF1', 'score': 23.18}, {'connected_gene': 'COIL', 'score': 21.6}, {'connected_gene': 'ENSG00000262298', 'score': 12.76}, {'connected_gene': 'DGKE', 'score': 11.89}, {'connected_gene': 'VEZF1', 'score': 10.2}, {'connected_gene': 'SCPEP1', 'score': 10.01}, {'connected_gene': 'ENSG00000263089', 'score': 0.44}]
chr17	GH17I056960	56960200	56961669	2.09	[{'connected_gene': 'GC17M056963', 'score': 550.77}, {'connected_gene': 'PIR54051', 'score': 550.77}, {'connected_gene': 'PIR58151', 'score': 550.77}, {'connected_gene': 'COIL', 'score': 550.77}, {'connected_gene': 'LOC105371836', 'score': 550.77}, {'connected_gene': 'SCPEP1', 'score': 24.84}, {'connected_gene': 'LOC100419768', 'score': 0.44}]
chr17	GH17I057096	57096083	57100629	1.25	[{'connected_gene': 'ENSG00000263089', 'score': 555.87}, {'connected_gene': 'ENSG00000263004', 'score': 25.85}, {'connected_gene': 'SRSF1', 'score': 13.8}, {'connected_gene': 'ENSG00000262298', 'score': 12.75}, {'connected_gene': 'AKAP1', 'score': 12.49}, {'connected_gene': 'VEZF1', 'score': 10.2}, {'connected_gene': 'SCPEP1', 'score': 9.99}, {'connected_gene': 'GC17P057199', 'score': 0.15}]
chr17	GH17I056981	56981089	56986400	1.15	[{'connected_gene': 'ENSG00000263120', 'score': 550.77}, {'connected_gene': 'SCPEP1', 'score': 27.71}, {'connected_gene': 'RNF126P1', 'score': 0.21}]
chr17	GH17I056980	56980201	56980400	0.2	[{'connected_gene': 'ENSG00000263120', 'score': 0.77}, {'connected_gene': 'SCPEP1', 'score': 0.77}]
chr17	GH17I056939	56939980	56940169	0.74	[{'connected_gene': 'ENSG00000262298', 'score': 550.77}, {'connected_gene': 'C17orf67', 'score': 11.47}, {'connected_gene': 'SCPEP1', 'score': 10.96}, {'connected_gene': 'LOC100419768', 'score': 0.39}, {'connected_gene': 'COIL', 'score': 0.34}]
chr17	GH17I056869	56869951	56870402	0.65	[{'connected_gene': 'PIR52664', 'score': 550.77}, {'connected_gene': 'RNU6-1158P', 'score': 550.77}, {'connected_gene': 'GC17P056869', 'score': 550.77}, {'connected_gene': 'GC17P056872', 'score': 550.77}, {'connected_gene': 'TRIM25', 'score': 9.13}, {'connected_gene': 'SCPEP1', 'score': 4.3}, {'connected_gene': 'GC17M056657', 'score': 0.44}, {'connected_gene': 'GC17P056857', 'score': 0.39}]
chr17	GH17I056890	56889297	56889804	0.38	[{'connected_gene': 'ENSG00000262112', 'score': 550.77}, {'connected_gene': 'MIR3614', 'score': 550.77}, {'connected_gene': 'C17orf67', 'score': 11.23}, {'connected_gene': 'SCPEP1', 'score': 10.64}, {'connected_gene': 'TRIM25', 'score': 0.34}]