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
ENST00000393805	[[86066266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86114529, 86114672]]	[[86067266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090606]]
ENST00000377332	[[86066266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86115946, 86116137]]	[[86067266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86115946, 86116028]]
ENST00000306262	[[86073616, 86073686], [86074983, 86075504], [86088303, 86088415], [86090484, 86090608], [86115946, 86116034]]	[[86075483, 86075504], [86088303, 86088415], [86090484, 86090608], [86115946, 86116028]]
ENST00000455892	[[86075143, 86075327], [86088303, 86088415], [86090484, 86090608], [86115399, 86115509]]	[[86075143, 86075327], [86088303, 86088415], [86090484, 86090606]]
ENST00000433665	[[86075273, 86075327], [86088303, 86088415], [86090484, 86090608], [86097194, 86097381], [86115946, 86116109]]	[[86097319, 86097381], [86115946, 86116028]]
ENST00000525834	[[86078390, 86078826], [86079982, 86080214], [86088303, 86088415], [86090484, 86090608], [86115946, 86116031]]	[[86078713, 86078826], [86079982, 86080214], [86088303, 86088415], [86090484, 86090608], [86115946, 86116028]]
ENST00000473122	[[86078630, 86078826], [86088303, 86088415], [86090484, 86090608], [86115946, 86116000]]	None
ENST00000461892	[[86079982, 86080214], [86088303, 86088415], [86090484, 86090608], [86115946, 86116031]]	None
ENST00000461199	[[86080030, 86080220], [86088303, 86088415], [86090484, 86090608], [86115946, 86116033]]	None
ENST00000484728	[[86088044, 86088415], [86090484, 86090608], [86115946, 86116034]]	None
ENST00000393808	[[86066266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86094727, 86094777]]	[[86067266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86094727, 86094740]]
ENST00000461206	[[86066271, 86067515], [86071518, 86071677], [86073499, 86073686], [86074504, 86074685], [86074983, 86076699]]	None
ENST00000487896	[[86078542, 86078826], [86079982, 86080236]]	None
ENST00000490946	[[86090484, 86090608], [86092980, 86093323]]	None
NM_003896	[[86066270, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86115946, 86116157]]	[[86067266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86115946, 86116028]]
NM_001042437	[[86066271, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86094727, 86094793]]	[[86067266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86094727, 86094740]]

Promoter

Chrom	Start	End	Description
chr2	86080280	86080285	CAGE_peak_7_at_ST3GAL5_5end
chr2	86080391	86080428	CAGE_peak_5_at_ST3GAL5_5end
chr2	86094764	86094796	CAGE_peak_9_at_ST3GAL5_5end
chr2	86115979	86116012	CAGE_peak_3_at_ST3GAL5_5end
chr2	86116020	86116039	CAGE_peak_2_at_ST3GAL5_5end
chr2	86116093	86116172	CAGE_peak_1_at_ST3GAL5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I085867	85867660	85867719	0.81	[{'connected_gene': 'ST3GAL5', 'score': 550.28}, {'connected_gene': 'ATOH8', 'score': 10.92}, {'connected_gene': 'RNU1-38P', 'score': 10.79}, {'connected_gene': 'GC02M085870', 'score': 0.77}, {'connected_gene': 'GC02M085871', 'score': 0.77}, {'connected_gene': 'GC02M085830', 'score': 0.31}]
chr2	GH02I084940	84940801	84941000	0.51	[{'connected_gene': 'ST3GAL5', 'score': 4.8}, {'connected_gene': 'GC02M084928', 'score': 0.39}, {'connected_gene': 'LOC105374838', 'score': 0.39}, {'connected_gene': 'GC02M084965', 'score': 0.31}]
chr2	GH02I085885	85885939	85891131	2.57	[{'connected_gene': 'ST3GAL5', 'score': 560.51}, {'connected_gene': 'ST3GAL5-AS1', 'score': 556.75}, {'connected_gene': 'GC02M085889', 'score': 550.77}, {'connected_gene': 'GC02M085888', 'score': 550.77}, {'connected_gene': 'SNORD94', 'score': 18.04}, {'connected_gene': 'MAT2A', 'score': 12.42}, {'connected_gene': 'TCF7L1', 'score': 11.93}, {'connected_gene': 'LOC284950', 'score': 11.68}, {'connected_gene': 'ELMOD3', 'score': 11.49}, {'connected_gene': 'RNU1-38P', 'score': 10.86}, {'connected_gene': 'POLR1A', 'score': 9.81}, {'connected_gene': 'GNLY', 'score': 1.77}, {'connected_gene': 'CAPG', 'score': 1.19}, {'connected_gene': 'GC02P085883', 'score': 0.44}]
chr2	GH02I085926	85926037	85926227	0.31	[{'connected_gene': 'ST3GAL5', 'score': 0.34}, {'connected_gene': 'GC02P085952', 'score': 0.31}, {'connected_gene': 'GC02P085883', 'score': 0.26}]
chr2	GH02I085910	85910751	85910827	0.76	[{'connected_gene': 'ST3GAL5', 'score': 0.44}, {'connected_gene': 'GC02P085883', 'score': 0.31}, {'connected_gene': 'GC02P085952', 'score': 0.26}]
chr2	GH02I085927	85926924	85927123	0.31	[{'connected_gene': 'ST3GAL5', 'score': 0.34}, {'connected_gene': 'GC02P085952', 'score': 0.31}, {'connected_gene': 'GC02P085883', 'score': 0.26}]
chr2	GH02I085871	85871369	85875023	0.59	[{'connected_gene': 'ATOH8', 'score': 10.92}, {'connected_gene': 'RNU1-38P', 'score': 10.79}, {'connected_gene': 'POLR1A', 'score': 8.64}, {'connected_gene': 'MRPL35', 'score': 5.61}, {'connected_gene': 'ENSG00000272564', 'score': 5.03}, {'connected_gene': 'IMMT', 'score': 4.86}, {'connected_gene': 'LOC284950', 'score': 4.68}, {'connected_gene': 'REEP1', 'score': 4.38}, {'connected_gene': 'GC02M085870', 'score': 0.77}, {'connected_gene': 'GC02M085871', 'score': 0.77}, {'connected_gene': 'GC02P085883', 'score': 0.44}, {'connected_gene': 'ST3GAL5', 'score': 0.29}]
chr2	GH02I085920	85920999	85923027	1.28	[{'connected_gene': 'SNORD94', 'score': 19.48}, {'connected_gene': 'LOC284950', 'score': 10.53}, {'connected_gene': 'RNU1-38P', 'score': 9.99}, {'connected_gene': 'MAT2A', 'score': 9.91}, {'connected_gene': 'ST3GAL5-AS1', 'score': 4.91}, {'connected_gene': 'ST3GAL5', 'score': 4.5}, {'connected_gene': 'GC02P085952', 'score': 0.29}, {'connected_gene': 'GC02P085883', 'score': 0.28}]
chr2	GH02I085875	85875401	85876400	0.67	[{'connected_gene': 'REEP1', 'score': 4.37}, {'connected_gene': 'GC02M085870', 'score': 0.44}, {'connected_gene': 'GC02M085871', 'score': 0.44}, {'connected_gene': 'GC02P085883', 'score': 0.44}, {'connected_gene': 'ST3GAL5', 'score': 0.31}]
chr2	GH02I085896	85896499	85906432	0.75	[{'connected_gene': 'MRPL35', 'score': 9.42}, {'connected_gene': 'POLR1A', 'score': 8.66}, {'connected_gene': 'IMMT', 'score': 7.6}, {'connected_gene': 'ST3GAL5-AS1', 'score': 7.07}, {'connected_gene': 'ENSG00000272564', 'score': 5.51}, {'connected_gene': 'ST3GAL5', 'score': 4.88}, {'connected_gene': 'GC02P085883', 'score': 0.37}]
chr2	GH02I085933	85933538	85937571	1.44	[{'connected_gene': 'LOC284950', 'score': 10.1}, {'connected_gene': 'IMMT', 'score': 8.68}, {'connected_gene': 'ENSG00000273080', 'score': 5.84}, {'connected_gene': 'POLR1A', 'score': 5.35}, {'connected_gene': 'MRPL35', 'score': 4.79}, {'connected_gene': 'ST3GAL5', 'score': 4.63}, {'connected_gene': 'GC02P085952', 'score': 0.37}, {'connected_gene': 'GC02P085883', 'score': 0.23}]
chr2	GH02I085918	85918060	85919262	0.38	[{'connected_gene': 'LOC284950', 'score': 10.46}, {'connected_gene': 'IMMT', 'score': 6.4}, {'connected_gene': 'ST3GAL5-AS1', 'score': 5.7}, {'connected_gene': 'MRPL35', 'score': 4.75}, {'connected_gene': 'ST3GAL5', 'score': 0.39}, {'connected_gene': 'GC02P085952', 'score': 0.29}, {'connected_gene': 'GC02P085883', 'score': 0.28}]
chr2	GH02I085865	85865341	85865977	0.9	[{'connected_gene': 'LOC284950', 'score': 11.48}, {'connected_gene': 'RNU1-38P', 'score': 10.43}, {'connected_gene': 'GC02M085870', 'score': 0.77}, {'connected_gene': 'GC02M085871', 'score': 0.77}, {'connected_gene': 'GC02M085830', 'score': 0.31}, {'connected_gene': 'ST3GAL5', 'score': 0.28}]
chr2	GH02I085859	85859954	85863531	1.14	[{'connected_gene': 'LOC284950', 'score': 11.28}, {'connected_gene': 'RNU1-38P', 'score': 11.0}, {'connected_gene': 'ATOH8', 'score': 10.93}, {'connected_gene': 'POLR1A', 'score': 8.58}, {'connected_gene': 'ENSG00000272564', 'score': 4.88}, {'connected_gene': 'IMMT', 'score': 4.87}, {'connected_gene': 'GC02M085870', 'score': 0.44}, {'connected_gene': 'GC02M085871', 'score': 0.44}, {'connected_gene': 'GC02M085830', 'score': 0.34}, {'connected_gene': 'ST3GAL5', 'score': 0.26}]
chr2	GH02I085850	85850340	85855857	1.18	[{'connected_gene': 'IMMT', 'score': 6.34}, {'connected_gene': 'ENSG00000272564', 'score': 6.2}, {'connected_gene': 'POLR1A', 'score': 4.97}, {'connected_gene': 'GC02M085830', 'score': 0.39}, {'connected_gene': 'GC02M085870', 'score': 0.37}, {'connected_gene': 'GC02M085871', 'score': 0.37}, {'connected_gene': 'ST3GAL5', 'score': 0.23}]
chr2	GH02I085923	85923942	85925606	1.09	[{'connected_gene': 'USP39', 'score': 24.59}, {'connected_gene': 'KDM3A', 'score': 21.79}, {'connected_gene': 'LOC105374845', 'score': 20.36}, {'connected_gene': 'C2orf68', 'score': 14.7}, {'connected_gene': 'TCF7L1', 'score': 12.71}, {'connected_gene': 'LOC100996506', 'score': 11.85}, {'connected_gene': 'SNORD94', 'score': 10.13}, {'connected_gene': 'MRPL35', 'score': 4.78}, {'connected_gene': 'ST3GAL5', 'score': 0.37}, {'connected_gene': 'GC02P085952', 'score': 0.31}, {'connected_gene': 'GC02P085883', 'score': 0.26}]
chr2	GH02I085877	85877249	85880594	0.43	[{'connected_gene': 'RNU1-38P', 'score': 10.86}, {'connected_gene': 'MRPL35', 'score': 5.56}, {'connected_gene': 'IMMT', 'score': 4.92}, {'connected_gene': 'POLR1A', 'score': 4.62}, {'connected_gene': 'GC02P085883', 'score': 0.77}, {'connected_gene': 'GC02M085870', 'score': 0.44}, {'connected_gene': 'GC02M085871', 'score': 0.44}, {'connected_gene': 'ST3GAL5', 'score': 0.31}]
chr2	GH02I085892	85892666	85895652	1.31	[{'connected_gene': 'ST3GAL5-AS1', 'score': 6.75}, {'connected_gene': 'ST3GAL5', 'score': 6.12}, {'connected_gene': 'POLR1A', 'score': 4.69}, {'connected_gene': 'ENSG00000272564', 'score': 4.44}, {'connected_gene': 'GC02P085883', 'score': 0.39}]
chr2	GH02I085907	85907192	85909654	0.89	[{'connected_gene': 'ST3GAL5-AS1', 'score': 7.04}, {'connected_gene': 'ENSG00000272564', 'score': 5.5}, {'connected_gene': 'ST3GAL5', 'score': 0.77}, {'connected_gene': 'GC02P085883', 'score': 0.31}, {'connected_gene': 'GC02P085952', 'score': 0.26}]
chr2	GH02I085919	85919778	85920625	0.31	[{'connected_gene': 'ST3GAL5-AS1', 'score': 5.14}, {'connected_gene': 'ST3GAL5', 'score': 0.37}, {'connected_gene': 'GC02P085952', 'score': 0.29}, {'connected_gene': 'GC02P085883', 'score': 0.28}]
chr2	GH02I085929	85929507	85930817	0.54	[{'connected_gene': 'ST3GAL5-AS1', 'score': 5.14}, {'connected_gene': 'GC02P085952', 'score': 0.34}, {'connected_gene': 'ST3GAL5', 'score': 0.34}, {'connected_gene': 'GC02P085883', 'score': 0.25}]
chr2	GH02I085914	85914450	85916582	0.66	[{'connected_gene': 'ST3GAL5-AS1', 'score': 6.99}, {'connected_gene': 'POLR1A', 'score': 4.81}, {'connected_gene': 'ST3GAL5', 'score': 0.39}, {'connected_gene': 'GC02P085883', 'score': 0.29}, {'connected_gene': 'GC02P085952', 'score': 0.28}]
chr2	GH02I085911	85911150	85914429	1.1	[{'connected_gene': 'ST3GAL5-AS1', 'score': 6.79}, {'connected_gene': 'POLR1A', 'score': 6.56}, {'connected_gene': 'ENSG00000272564', 'score': 5.12}, {'connected_gene': 'MRPL35', 'score': 4.91}, {'connected_gene': 'ENSG00000273080', 'score': 4.32}, {'connected_gene': 'ST3GAL5', 'score': 0.44}, {'connected_gene': 'GC02P085883', 'score': 0.31}, {'connected_gene': 'GC02P085952', 'score': 0.26}]
chr2	GH02I085846	85846558	85846747	0.4	[{'connected_gene': 'GC02M085830', 'score': 0.44}, {'connected_gene': 'GC02M085870', 'score': 0.34}, {'connected_gene': 'GC02M085871', 'score': 0.34}, {'connected_gene': 'ST3GAL5', 'score': 0.22}]
chr2	GH02I085869	85869339	85870806	0.2	[{'connected_gene': 'GC02M085870', 'score': 550.77}, {'connected_gene': 'GC02M085871', 'score': 550.77}, {'connected_gene': 'ATOH8', 'score': 10.92}, {'connected_gene': 'RNU1-38P', 'score': 10.79}, {'connected_gene': 'IMMT', 'score': 4.75}, {'connected_gene': 'ENSG00000272564', 'score': 4.68}, {'connected_gene': 'POLR1A', 'score': 4.5}, {'connected_gene': 'GC02M085830', 'score': 0.31}, {'connected_gene': 'ST3GAL5', 'score': 0.28}]
chr2	GH02I085840	85840084	85840661	0.89	[{'connected_gene': 'GC02M085830', 'score': 550.77}, {'connected_gene': 'LOC284950', 'score': 12.0}, {'connected_gene': 'ATOH8', 'score': 10.98}, {'connected_gene': 'RN7SKP83', 'score': 0.37}, {'connected_gene': 'ST3GAL5', 'score': 0.21}]
chr2	GH02I085951	85951778	85953786	0.87	[{'connected_gene': 'GC02P085952', 'score': 550.77}, {'connected_gene': 'IMMT', 'score': 9.29}, {'connected_gene': 'ENSG00000273080', 'score': 6.54}, {'connected_gene': 'MRPL35', 'score': 5.41}, {'connected_gene': 'ST3GAL5', 'score': 0.25}, {'connected_gene': 'GC02P085883', 'score': 0.2}]
chr2	GH02I085883	85883293	85885647	0.38	[{'connected_gene': 'GC02P085883', 'score': 550.77}, {'connected_gene': 'RNU1-38P', 'score': 10.86}, {'connected_gene': 'ENSG00000272564', 'score': 5.05}, {'connected_gene': 'POLR1A', 'score': 4.62}, {'connected_gene': 'REEP1', 'score': 4.42}, {'connected_gene': 'GC02M085889', 'score': 0.77}, {'connected_gene': 'GC02M085888', 'score': 0.77}, {'connected_gene': 'ST3GAL5', 'score': 0.34}]