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
ENST00000368046	[[160648535, 160648921], [160650991, 160651258], [160654676, 160654979], [160681471, 160681641]]	[[160648841, 160648921], [160650991, 160651258], [160654676, 160654979], [160681471, 160681553]]
ENST00000368045	[[160653308, 160654979], [160681471, 160681593]]	[[160654551, 160654979], [160681471, 160681553]]
NM_001778	[[160648535, 160648921], [160650991, 160651258], [160654676, 160654979], [160681471, 160681641]]	[[160648841, 160648921], [160650991, 160651258], [160654676, 160654979], [160681471, 160681553]]
NM_001256030	[[160650211, 160651258], [160654676, 160654979], [160681471, 160681641]]	[[160650884, 160651258], [160654676, 160654979], [160681471, 160681553]]

Promoter

Chrom	Start	End	Description
chr1	160681573	160681587	CAGE_peak_2_at_CD48_5end
chr1	160681597	160681619	CAGE_peak_1_at_CD48_5end
chr1	160681693	160681719	CAGE_peak_3_at_CD48_5end
chr1	160681984	160682004	CAGE_peak_4_at_CD48_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I160703	160703663	160715419	2.31	[{'connected_gene': 'CD48', 'score': 569.45}, {'connected_gene': 'SLAMF7', 'score': 49.28}, {'connected_gene': 'CD244', 'score': 21.1}, {'connected_gene': 'DEDD', 'score': 11.26}, {'connected_gene': 'NCSTN', 'score': 11.26}, {'connected_gene': 'ENSG00000228863', 'score': 11.06}, {'connected_gene': 'SLAMF1', 'score': 11.03}, {'connected_gene': 'LY9', 'score': 10.65}, {'connected_gene': 'LINC01133', 'score': 10.47}, {'connected_gene': 'ENSG00000256029', 'score': 10.38}, {'connected_gene': 'ITLN1', 'score': 9.9}, {'connected_gene': 'ARHGAP30', 'score': 3.11}, {'connected_gene': 'COPA', 'score': 1.26}, {'connected_gene': 'GC01P160684', 'score': 0.31}]
chr1	GH01I160538	160538049	160545200	1.68	[{'connected_gene': 'CD84', 'score': 17.94}, {'connected_gene': 'SLAMF1', 'score': 16.27}, {'connected_gene': 'VANGL2', 'score': 15.91}, {'connected_gene': 'PPOX', 'score': 10.1}, {'connected_gene': 'ENSG00000228863', 'score': 9.93}, {'connected_gene': 'SLAMF8', 'score': 9.78}, {'connected_gene': 'TSTD1', 'score': 5.87}, {'connected_gene': 'SLAMF6', 'score': 4.36}, {'connected_gene': 'CD48', 'score': 1.96}, {'connected_gene': 'DCAF8', 'score': 1.63}, {'connected_gene': 'LOC105371468', 'score': 0.44}]
chr1	GH01I160573	160573884	160579989	2.33	[{'connected_gene': 'CD84', 'score': 558.28}, {'connected_gene': 'SLAMF7', 'score': 19.38}, {'connected_gene': 'VANGL2', 'score': 13.28}, {'connected_gene': 'SLAMF6', 'score': 10.65}, {'connected_gene': 'SLAMF1', 'score': 10.42}, {'connected_gene': 'CD48', 'score': 5.42}, {'connected_gene': 'CD244', 'score': 4.91}, {'connected_gene': 'ATP1A4', 'score': 1.18}, {'connected_gene': 'LOC105371468', 'score': 0.26}]
chr1	GH01I160565	160565401	160570414	1.44	[{'connected_gene': 'CD84', 'score': 22.66}, {'connected_gene': 'VANGL2', 'score': 13.77}, {'connected_gene': 'SLAMF6', 'score': 12.45}, {'connected_gene': 'ATP1A4', 'score': 11.73}, {'connected_gene': 'SLAMF1', 'score': 10.56}, {'connected_gene': 'LY9', 'score': 9.61}, {'connected_gene': 'CD48', 'score': 1.21}, {'connected_gene': 'LOC105371468', 'score': 0.29}]
chr1	GH01I161181	161181277	161188841	1.55	[{'connected_gene': 'B4GALT3', 'score': 12.21}, {'connected_gene': 'ADAMTS4', 'score': 8.6}, {'connected_gene': 'SLAMF7', 'score': 7.4}, {'connected_gene': 'PPOX', 'score': 6.88}, {'connected_gene': 'NIT1', 'score': 6.84}, {'connected_gene': 'FCER1G', 'score': 4.69}, {'connected_gene': 'CD48', 'score': 3.93}, {'connected_gene': 'ARHGAP30', 'score': 3.86}, {'connected_gene': 'CD244', 'score': 2.86}, {'connected_gene': 'FCGR3A', 'score': 2.69}, {'connected_gene': 'HSPA6', 'score': 1.82}, {'connected_gene': 'USF1', 'score': 1.7}, {'connected_gene': 'FCGR2A', 'score': 1.59}, {'connected_gene': 'LY9', 'score': 1.15}, {'connected_gene': 'NDUFS2', 'score': 0.39}]
chr1	GH01I160635	160635747	160648235	1.95	[{'connected_gene': 'SLAMF1', 'score': 556.39}, {'connected_gene': 'ENSG00000228863', 'score': 11.48}, {'connected_gene': 'RPL27AP2', 'score': 5.66}, {'connected_gene': 'SETP9', 'score': 5.43}, {'connected_gene': 'PPOX', 'score': 4.52}, {'connected_gene': 'SLAMF6', 'score': 3.35}, {'connected_gene': 'CD48', 'score': 1.77}, {'connected_gene': 'CD84', 'score': 0.21}]
chr1	GH01I160717	160717920	160719072	0.2	[{'connected_gene': 'SLAMF7', 'score': 12.0}, {'connected_gene': 'ENSG00000228863', 'score': 10.87}, {'connected_gene': 'SLAMF1', 'score': 10.4}, {'connected_gene': 'LY9', 'score': 10.22}, {'connected_gene': 'ITLN1', 'score': 9.42}, {'connected_gene': 'CD48', 'score': 0.44}, {'connected_gene': 'GC01P160735', 'score': 0.37}]
chr1	GH01I160810	160810240	160812054	0.46	[{'connected_gene': 'SLAMF7', 'score': 10.95}, {'connected_gene': 'ITLN1', 'score': 10.56}, {'connected_gene': 'CD48', 'score': 10.26}, {'connected_gene': 'ENSG00000228863', 'score': 10.14}, {'connected_gene': 'SLAMF1', 'score': 9.99}, {'connected_gene': 'LOC105371471', 'score': 8.79}, {'connected_gene': 'ITLN2', 'score': 5.6}, {'connected_gene': 'PIR60624', 'score': 0.39}, {'connected_gene': 'LY9', 'score': 0.37}]
chr1	GH01I160766	160766654	160769060	1.51	[{'connected_gene': 'SLAMF7', 'score': 40.01}, {'connected_gene': 'CD244', 'score': 14.31}, {'connected_gene': 'LY9', 'score': 11.22}, {'connected_gene': 'ENSG00000228863', 'score': 10.75}, {'connected_gene': 'ITLN1', 'score': 10.19}, {'connected_gene': 'SLAMF1', 'score': 10.19}, {'connected_gene': 'CD48', 'score': 8.77}, {'connected_gene': 'FCER1G', 'score': 8.74}, {'connected_gene': 'ENSG00000275801', 'score': 0.44}]
chr1	GH01I160726	160726002	160727600	1.63	[{'connected_gene': 'SLAMF7', 'score': 28.2}, {'connected_gene': 'LY9', 'score': 11.73}, {'connected_gene': 'ENSG00000228863', 'score': 11.2}, {'connected_gene': 'ITLN1', 'score': 11.08}, {'connected_gene': 'DEDD', 'score': 11.03}, {'connected_gene': 'NCSTN', 'score': 10.81}, {'connected_gene': 'B4GALT3', 'score': 10.4}, {'connected_gene': 'SLAMF1', 'score': 10.36}, {'connected_gene': 'ENSG00000256029', 'score': 9.75}, {'connected_gene': 'CD48', 'score': 9.41}, {'connected_gene': 'FCER1G', 'score': 8.84}, {'connected_gene': 'CD244', 'score': 5.13}, {'connected_gene': 'ENSG00000202078', 'score': 4.9}, {'connected_gene': 'GC01P160735', 'score': 0.44}]
chr1	GH01I160732	160732180	160732544	0.82	[{'connected_gene': 'SLAMF7', 'score': 36.42}, {'connected_gene': 'ENSG00000228863', 'score': 10.84}, {'connected_gene': 'LY9', 'score': 10.69}, {'connected_gene': 'ITLN1', 'score': 10.32}, {'connected_gene': 'SLAMF1', 'score': 10.16}, {'connected_gene': 'FCER1G', 'score': 10.14}, {'connected_gene': 'CD48', 'score': 9.54}, {'connected_gene': 'CD244', 'score': 5.28}, {'connected_gene': 'GC01P160735', 'score': 0.77}]
chr1	GH01I160738	160738126	160746162	2.11	[{'connected_gene': 'SLAMF7', 'score': 588.73}, {'connected_gene': 'FCER1G', 'score': 11.64}, {'connected_gene': 'CD48', 'score': 9.99}, {'connected_gene': 'CD244', 'score': 6.55}, {'connected_gene': 'ARHGAP30', 'score': 1.51}, {'connected_gene': 'COPA', 'score': 1.16}, {'connected_gene': 'ENSG00000275801', 'score': 0.29}]
chr1	GH01I160427	160427664	160433616	1.56	[{'connected_gene': 'VANGL2', 'score': 19.0}, {'connected_gene': 'SLAMF7', 'score': 14.64}, {'connected_gene': 'SLAMF1', 'score': 11.24}, {'connected_gene': 'NCSTN', 'score': 10.85}, {'connected_gene': 'ENSG00000228863', 'score': 10.59}, {'connected_gene': 'NHLH1', 'score': 10.21}, {'connected_gene': 'ITLN1', 'score': 9.33}, {'connected_gene': 'CD48', 'score': 8.97}, {'connected_gene': 'CD244', 'score': 5.28}, {'connected_gene': 'LY9', 'score': 3.49}, {'connected_gene': 'SLAMF9', 'score': 3.3}, {'connected_gene': 'SLAMF6', 'score': 1.64}, {'connected_gene': 'LOC105371467', 'score': 0.44}, {'connected_gene': 'LOC105371466', 'score': 0.34}]
chr1	GH01I160621	160621656	160635584	1.56	[{'connected_gene': 'VANGL2', 'score': 21.88}, {'connected_gene': 'ENSG00000228863', 'score': 11.43}, {'connected_gene': 'COPA', 'score': 10.72}, {'connected_gene': 'NCSTN', 'score': 10.72}, {'connected_gene': 'SLAMF7', 'score': 10.05}, {'connected_gene': 'NHLH1', 'score': 9.91}, {'connected_gene': 'RNU4-42P', 'score': 9.76}, {'connected_gene': 'ITLN1', 'score': 9.23}, {'connected_gene': 'SLAMF6', 'score': 8.45}, {'connected_gene': 'SLAMF1', 'score': 5.5}, {'connected_gene': 'TSTD1', 'score': 5.17}, {'connected_gene': 'LY9', 'score': 4.28}, {'connected_gene': 'CD48', 'score': 2.95}, {'connected_gene': 'ARHGAP30', 'score': 2.47}, {'connected_gene': 'USF1', 'score': 1.3}, {'connected_gene': 'CD84', 'score': 0.25}]
chr1	GH01I160835	160835539	160840272	1.44	[{'connected_gene': 'CD244', 'score': 24.31}, {'connected_gene': 'ITLN1', 'score': 11.79}, {'connected_gene': 'ENSG00000228863', 'score': 9.79}, {'connected_gene': 'SLAMF1', 'score': 9.65}, {'connected_gene': 'TSTD1', 'score': 5.78}, {'connected_gene': 'ARHGAP30', 'score': 2.76}, {'connected_gene': 'SLAMF6', 'score': 2.38}, {'connected_gene': 'USF1', 'score': 1.76}, {'connected_gene': 'CD48', 'score': 1.51}, {'connected_gene': 'LY9', 'score': 1.39}, {'connected_gene': 'PPIAP37', 'score': 0.39}, {'connected_gene': 'PIR60624', 'score': 0.39}]
chr1	GH01I160794	160794779	160801600	1.98	[{'connected_gene': 'LY9', 'score': 577.17}, {'connected_gene': 'SLAMF7', 'score': 10.84}, {'connected_gene': 'ENSG00000228863', 'score': 10.34}, {'connected_gene': 'ITLN1', 'score': 10.22}, {'connected_gene': 'SLAMF1', 'score': 9.67}, {'connected_gene': 'CD244', 'score': 5.47}, {'connected_gene': 'ATP1A4', 'score': 4.44}, {'connected_gene': 'SLAMF6', 'score': 3.97}, {'connected_gene': 'CD48', 'score': 2.64}, {'connected_gene': 'USF1', 'score': 1.99}, {'connected_gene': 'ARHGAP30', 'score': 1.73}, {'connected_gene': 'TSTD1', 'score': 1.54}, {'connected_gene': 'PPOX', 'score': 1.39}, {'connected_gene': 'PIR60624', 'score': 0.31}]
chr1	GH01I160821	160821149	160821344	0.36	[{'connected_gene': 'LY9', 'score': 9.74}, {'connected_gene': 'CD244', 'score': 3.82}, {'connected_gene': 'ARHGAP30', 'score': 2.85}, {'connected_gene': 'USF1', 'score': 2.72}, {'connected_gene': 'CD48', 'score': 2.45}, {'connected_gene': 'SLAMF6', 'score': 1.85}, {'connected_gene': 'PIR60624', 'score': 0.77}]
chr1	GH01I161066	161066049	161071180	2.43	[{'connected_gene': 'ARHGAP30', 'score': 568.4}, {'connected_gene': 'FCGR2A', 'score': 38.56}, {'connected_gene': 'TSTD1', 'score': 31.5}, {'connected_gene': 'DUSP12', 'score': 27.0}, {'connected_gene': 'USP21', 'score': 24.96}, {'connected_gene': 'PPOX', 'score': 16.24}, {'connected_gene': 'F11R', 'score': 16.13}, {'connected_gene': 'DEDD', 'score': 12.65}, {'connected_gene': 'NECTIN4', 'score': 12.0}, {'connected_gene': 'ENSG00000232879', 'score': 11.75}, {'connected_gene': 'LOC100287049', 'score': 11.53}, {'connected_gene': 'COPA', 'score': 11.48}, {'connected_gene': 'KLHDC9', 'score': 11.19}, {'connected_gene': 'USF1', 'score': 4.63}, {'connected_gene': 'FCGR3A', 'score': 3.43}, {'connected_gene': 'CD244', 'score': 3.34}, {'connected_gene': 'FCER1G', 'score': 3.26}, {'connected_gene': 'CD48', 'score': 2.45}, {'connected_gene': 'GC01P161070', 'score': 0.77}, {'connected_gene': 'GC01P161046', 'score': 0.34}]
chr1	GH01I160346	160346001	160347800	1.08	[{'connected_gene': 'NCSTN', 'score': 34.96}, {'connected_gene': 'IGSF8', 'score': 9.78}, {'connected_gene': 'COPA', 'score': 6.37}, {'connected_gene': 'TAGLN2', 'score': 2.52}, {'connected_gene': 'CD48', 'score': 2.14}, {'connected_gene': 'SLAMF7', 'score': 1.57}, {'connected_gene': 'GC01P160354', 'score': 0.44}, {'connected_gene': 'NHLH1', 'score': 0.21}]
chr1	GH01I160232	160232945	160233191	0.42	[{'connected_gene': 'SLAMF6', 'score': 3.69}, {'connected_gene': 'CD48', 'score': 3.34}, {'connected_gene': 'FCRL6', 'score': 3.34}, {'connected_gene': 'DCAF8', 'score': 1.69}, {'connected_gene': 'PIR40871', 'score': 0.37}, {'connected_gene': 'GC01P160261', 'score': 0.31}, {'connected_gene': 'ENSG00000258465', 'score': 0.23}]
chr1	GH01I160560	160560947	160561073	0.45	[{'connected_gene': 'SLAMF6', 'score': 16.88}, {'connected_gene': 'VANGL2', 'score': 10.18}, {'connected_gene': 'SLAMF1', 'score': 9.55}, {'connected_gene': 'LY9', 'score': 2.94}, {'connected_gene': 'CD48', 'score': 2.12}, {'connected_gene': 'CD84', 'score': 0.37}, {'connected_gene': 'LOC105371468', 'score': 0.34}]
chr1	GH01I161011	161011352	161023074	2.16	[{'connected_gene': 'DUSP12', 'score': 74.64}, {'connected_gene': 'USP21', 'score': 72.51}, {'connected_gene': 'LOC100287049', 'score': 65.99}, {'connected_gene': 'DEDD', 'score': 42.11}, {'connected_gene': 'PPOX', 'score': 41.65}, {'connected_gene': 'TSTD1', 'score': 33.18}, {'connected_gene': 'LOC148430', 'score': 32.97}, {'connected_gene': 'B4GALT3', 'score': 29.85}, {'connected_gene': 'ARHGAP30', 'score': 24.17}, {'connected_gene': 'KLHDC9', 'score': 22.28}, {'connected_gene': 'DCAF8', 'score': 20.08}, {'connected_gene': 'FCGR2A', 'score': 19.25}, {'connected_gene': 'USF1', 'score': 17.68}, {'connected_gene': 'RPSAP18', 'score': 16.18}, {'connected_gene': 'LOC105371471', 'score': 10.91}, {'connected_gene': 'NECTIN4', 'score': 10.9}, {'connected_gene': 'F11R', 'score': 10.52}, {'connected_gene': 'LY9', 'score': 9.87}, {'connected_gene': 'ITLN1', 'score': 9.71}, {'connected_gene': 'ENSG00000228863', 'score': 9.37}, {'connected_gene': 'ENSG00000232879', 'score': 7.77}, {'connected_gene': 'FCER1G', 'score': 6.31}, {'connected_gene': 'CD244', 'score': 4.98}, {'connected_gene': 'SLAMF7', 'score': 4.61}, {'connected_gene': 'CD48', 'score': 4.18}, {'connected_gene': 'ADAMTS4', 'score': 2.7}, {'connected_gene': 'NDUFS2', 'score': 1.4}, {'connected_gene': 'NR1I3', 'score': 1.24}, {'connected_gene': 'CD84', 'score': 1.13}, {'connected_gene': 'PIR46981', 'score': 0.37}, {'connected_gene': 'GC01M161000', 'score': 0.37}, {'connected_gene': 'ENSG00000270149', 'score': 0.34}]
chr1	GH01I160788	160788944	160791556	1.51	[{'connected_gene': 'LOC105371470', 'score': 550.77}, {'connected_gene': 'SLAMF7', 'score': 29.08}, {'connected_gene': 'ITLN1', 'score': 10.82}, {'connected_gene': 'ENSG00000228863', 'score': 10.41}, {'connected_gene': 'CD48', 'score': 9.02}, {'connected_gene': 'CD244', 'score': 7.73}, {'connected_gene': 'FCER1G', 'score': 7.52}, {'connected_gene': 'COPA', 'score': 5.15}, {'connected_gene': 'TSTD1', 'score': 4.71}, {'connected_gene': 'LY9', 'score': 3.53}, {'connected_gene': 'ARHGAP30', 'score': 1.87}, {'connected_gene': 'CD84', 'score': 1.68}]
chr1	GH01I160436	160436831	160439291	1.33	[{'connected_gene': 'LOC105371467', 'score': 550.77}, {'connected_gene': 'SLAMF6', 'score': 14.65}, {'connected_gene': 'USP21', 'score': 12.78}, {'connected_gene': 'SLAMF1', 'score': 11.42}, {'connected_gene': 'PPOX', 'score': 11.03}, {'connected_gene': 'CD84', 'score': 10.73}, {'connected_gene': 'VANGL2', 'score': 10.62}, {'connected_gene': 'ENSG00000228863', 'score': 9.41}, {'connected_gene': 'ITLN1', 'score': 9.33}, {'connected_gene': 'LY9', 'score': 2.81}, {'connected_gene': 'CD48', 'score': 1.8}, {'connected_gene': 'DCAF8', 'score': 1.19}, {'connected_gene': 'LOC105371466', 'score': 0.31}]
chr1	GH01I160681	160681014	160686445	1.22	[{'connected_gene': 'GC01P160684', 'score': 550.77}, {'connected_gene': 'CD48', 'score': 11.82}, {'connected_gene': 'SLAMF7', 'score': 11.61}, {'connected_gene': 'SLAMF1', 'score': 11.2}, {'connected_gene': 'LY9', 'score': 10.26}, {'connected_gene': 'ITLN1', 'score': 9.75}, {'connected_gene': 'ENSG00000228863', 'score': 0.39}]
chr1	GH01I160719	160719949	160721186	0.38	[{'connected_gene': 'ENSG00000228863', 'score': 10.67}, {'connected_gene': 'SLAMF1', 'score': 10.24}, {'connected_gene': 'LY9', 'score': 10.22}, {'connected_gene': 'ITLN1', 'score': 9.83}, {'connected_gene': 'CD48', 'score': 0.44}, {'connected_gene': 'GC01P160735', 'score': 0.39}]
chr1	GH01I160733	160733512	160734515	1.11	[{'connected_gene': 'GC01P160735', 'score': 550.77}, {'connected_gene': 'SLAMF7', 'score': 18.41}, {'connected_gene': 'ITLN1', 'score': 10.33}, {'connected_gene': 'SLAMF1', 'score': 10.12}, {'connected_gene': 'LOC105371471', 'score': 9.58}, {'connected_gene': 'FCER1G', 'score': 9.21}, {'connected_gene': 'CD48', 'score': 8.21}, {'connected_gene': 'CD244', 'score': 4.91}]