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
ENST00000521788	[[120007690, 120007812], [120021679, 120021792], [120101918, 120101990], [120103387, 120103459], [120114586, 120114640], [120114764, 120114933], [120116038, 120116106]]	None
ENST00000332843	[[120079479, 120079668], [120101918, 120101990], [120103387, 120103459], [120114586, 120114640], [120116038, 120116134], [120118038, 120118821]]	[[120079520, 120079668], [120101918, 120101990], [120103387, 120103459], [120114586, 120114640], [120116038, 120116134], [120118038, 120118430]]
NM_001324095	[[119964405, 119964617], [120049674, 120049842], [120050293, 120050389], [120101918, 120101990], [120103387, 120103459], [120114586, 120114640], [120116038, 120116134], [120118038, 120120694]]	[[120101977, 120101990], [120103387, 120103459], [120114586, 120114640], [120116038, 120116134], [120118038, 120118430]]
NM_006438	[[120079423, 120079668], [120101918, 120101990], [120103387, 120103459], [120114586, 120114640], [120116038, 120116134], [120118038, 120120694]]	[[120079520, 120079668], [120101918, 120101990], [120103387, 120103459], [120114586, 120114640], [120116038, 120116134], [120118038, 120118430]]

Promoter

Chrom	Start	End	Description
chr8	120079398	120079416	CAGE_peak_3_at_COLEC10_5end
chr8	120079417	120079436	CAGE_peak_2_at_COLEC10_5end
chr8	120079478	120079499	CAGE_peak_1_at_COLEC10_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I119148	119148041	119149481	0.2	[{'connected_gene': 'MAL2', 'score': 7.45}, {'connected_gene': 'COLEC10', 'score': 4.43}, {'connected_gene': 'LOC105375725', 'score': 0.77}, {'connected_gene': 'LOC101927513', 'score': 0.18}]
chr8	GH08I119086	119086522	119086671	0.66	[{'connected_gene': 'MAL2', 'score': 8.0}, {'connected_gene': 'LOC101927513', 'score': 0.37}, {'connected_gene': 'LOC105375725', 'score': 0.2}, {'connected_gene': 'COLEC10', 'score': 0.12}]
chr8	GH08I119107	119107109	119108194	0.49	[{'connected_gene': 'MAL2', 'score': 11.6}, {'connected_gene': 'LOC101927513', 'score': 0.28}, {'connected_gene': 'LOC105375725', 'score': 0.26}, {'connected_gene': 'COLEC10', 'score': 0.1}]
chr8	GH08I118969	118969383	118970656	0.38	[{'connected_gene': 'RNU6-12P', 'score': 0.44}, {'connected_gene': 'COLEC10', 'score': 0.37}]
chr8	GH08I118950	118950425	118952979	1.75	[{'connected_gene': 'COLEC10', 'score': 562.83}, {'connected_gene': 'TNFRSF11B', 'score': 550.77}, {'connected_gene': 'RNU6-12P', 'score': 11.61}, {'connected_gene': 'LOC100286746', 'score': 11.57}, {'connected_gene': 'LOC105375723', 'score': 0.17}]
chr8	GH08I118941	118941045	118941971	0.59	[{'connected_gene': 'COLEC10', 'score': 6.36}, {'connected_gene': 'TNFRSF11B', 'score': 0.39}, {'connected_gene': 'LOC105375723', 'score': 0.18}]
chr8	GH08I118876	118876411	118879984	1.04	[{'connected_gene': 'COLEC10', 'score': 5.47}, {'connected_gene': 'TNFRSF11B', 'score': 5.41}, {'connected_gene': 'LOC105375723', 'score': 0.37}]
chr8	GH08I118928	118928963	118929904	0.46	[{'connected_gene': 'COLEC10', 'score': 11.09}, {'connected_gene': 'TNFRSF11B', 'score': 0.34}, {'connected_gene': 'LOC105375723', 'score': 0.2}]
chr8	GH08I118896	118896571	118899320	0.96	[{'connected_gene': 'COLEC10', 'score': 7.93}, {'connected_gene': 'SAMD12', 'score': 6.73}, {'connected_gene': 'TNFRSF11B', 'score': 5.79}, {'connected_gene': 'LOC105375723', 'score': 0.28}]
chr8	GH08I118948	118948141	118949187	0.76	[{'connected_gene': 'COLEC10', 'score': 12.82}, {'connected_gene': 'RNU6-12P', 'score': 11.53}, {'connected_gene': 'LOC100286746', 'score': 11.51}, {'connected_gene': 'TNFRSF11B', 'score': 0.77}, {'connected_gene': 'LOC105375723', 'score': 0.17}]
chr8	GH08I118908	118908903	118915140	0.81	[{'connected_gene': 'COLEC10', 'score': 11.95}, {'connected_gene': 'RNU6-12P', 'score': 10.83}, {'connected_gene': 'LOC100286746', 'score': 10.82}, {'connected_gene': 'TNFRSF11B', 'score': 6.36}, {'connected_gene': 'LOC105375723', 'score': 0.23}]
chr8	GH08I118959	118959062	118959171	0.66	[{'connected_gene': 'COLEC10', 'score': 0.44}, {'connected_gene': 'RNU6-12P', 'score': 0.37}]
chr8	GH08I118961	118961355	118962429	0.76	[{'connected_gene': 'COLEC10', 'score': 0.44}, {'connected_gene': 'RNU6-12P', 'score': 0.39}]
chr8	GH08I118956	118956482	118956631	0.52	[{'connected_gene': 'COLEC10', 'score': 0.77}, {'connected_gene': 'RNU6-12P', 'score': 0.37}]
chr8	GH08I118857	118857379	118859128	0.2	[{'connected_gene': 'COLEC10', 'score': 7.28}, {'connected_gene': 'LOC105375723', 'score': 0.77}, {'connected_gene': 'GC08M118796', 'score': 0.21}, {'connected_gene': 'SAMD12-AS1', 'score': 0.07}]
chr8	GH08I118904	118904508	118906591	1.2	[{'connected_gene': 'COLEC10', 'score': 12.43}, {'connected_gene': 'LOC105375723', 'score': 0.26}, {'connected_gene': 'TNFRSF11B', 'score': 0.25}]
chr8	GH08I118865	118865242	118870624	1.09	[{'connected_gene': 'COLEC10', 'score': 7.27}, {'connected_gene': 'LOC105375723', 'score': 0.44}, {'connected_gene': 'TNFRSF11B', 'score': 0.18}]
chr8	GH08I118860	118860915	118863023	0.96	[{'connected_gene': 'LOC105375723', 'score': 550.77}, {'connected_gene': 'COLEC10', 'score': 9.72}, {'connected_gene': 'TNFRSF11B', 'score': 0.16}]
chr8	GH08I119042	119042840	119043922	0.69	[{'connected_gene': 'LOC101927513', 'score': 11.85}, {'connected_gene': 'COLEC10', 'score': 11.69}, {'connected_gene': 'LOC100286746', 'score': 11.28}, {'connected_gene': 'RNU6-12P', 'score': 11.28}, {'connected_gene': 'GC08P119050', 'score': 0.44}]
chr8	GH08I119063	119063122	119063271	0.31	[{'connected_gene': 'LOC101927513', 'score': 0.44}, {'connected_gene': 'GC08P119050', 'score': 0.39}, {'connected_gene': 'COLEC10', 'score': 0.14}]
chr8	GH08I119067	119067198	119067257	0.68	[{'connected_gene': 'LOC101927513', 'score': 550.77}, {'connected_gene': 'COLEC10', 'score': 550.14}, {'connected_gene': 'GC08P119050', 'score': 0.37}]
chr8	GH08I119093	119093844	119094691	0.49	[{'connected_gene': 'LOC101927513', 'score': 0.31}, {'connected_gene': 'LOC105375725', 'score': 0.22}, {'connected_gene': 'COLEC10', 'score': 0.11}]
chr8	GH08I118995	118995302	118995451	0.38	[{'connected_gene': 'LOC100286746', 'score': 0.39}, {'connected_gene': 'COLEC10', 'score': 0.26}, {'connected_gene': 'GC08P119050', 'score': 0.22}]
chr8	GH08I119050	119050664	119053412	0.97	[{'connected_gene': 'GC08P119050', 'score': 550.77}, {'connected_gene': 'COLEC10', 'score': 6.89}, {'connected_gene': 'LOC101927513', 'score': 0.37}]
chr8	GH08I119053	119053524	119055871	0.65	[{'connected_gene': 'GC08P119050', 'score': 0.77}, {'connected_gene': 'LOC101927513', 'score': 0.39}, {'connected_gene': 'COLEC10', 'score': 0.15}]