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
ENST00000342310	[[165171103, 165173277], [165175100, 165175271], [165177299, 165177369], [165179935, 165180013], [165182877, 165183050], [165218644, 165218877], [165322312, 165322499], [165324720, 165324818], [165325591, 165325952]]	[[165173116, 165173277], [165175100, 165175271], [165177299, 165177369], [165179935, 165180013], [165182877, 165183050], [165218644, 165218877], [165322312, 165322499], [165324720, 165324796]]
ENST00000294816	[[165171109, 165173277], [165175100, 165175271], [165177299, 165177369], [165179935, 165180013], [165182877, 165183050], [165218644, 165218877], [165322312, 165322499], [165324720, 165324818], [165325306, 165325478]]	[[165173116, 165173277], [165175100, 165175271], [165177299, 165177369], [165179935, 165180013], [165182877, 165183050], [165218644, 165218877], [165322312, 165322499], [165324720, 165324796]]
ENST00000367893	[[165173110, 165173277], [165175100, 165175271], [165177299, 165177369], [165179935, 165180013], [165182877, 165183050], [165218644, 165218877], [165322312, 165322499], [165324720, 165324983]]	[[165173116, 165173277], [165175100, 165175271], [165177299, 165177369], [165179935, 165180013], [165182877, 165183050], [165218644, 165218877], [165322312, 165322499], [165324720, 165324796]]
ENST00000489443	[[165172644, 165173277], [165175100, 165175271], [165176718, 165176851], [165177299, 165177369], [165179935, 165180013], [165182195, 165182292], [165182444, 165182517]]	None
NM_001174069	[[165171103, 165173277], [165175100, 165175271], [165177299, 165177369], [165179935, 165180013], [165182877, 165183050], [165218644, 165218877], [165322312, 165322499], [165324720, 165324818], [165325306, 165325478]]	[[165173116, 165173277], [165175100, 165175271], [165177299, 165177369], [165179935, 165180013], [165182877, 165183050], [165218644, 165218877], [165322312, 165322499], [165324720, 165324796]]
NM_177398	[[165171103, 165173277], [165175100, 165175271], [165177299, 165177369], [165179935, 165180013], [165182877, 165183050], [165218644, 165218877], [165322312, 165322499], [165324720, 165324818], [165325591, 165325952]]	[[165173116, 165173277], [165175100, 165175271], [165177299, 165177369], [165179935, 165180013], [165182877, 165183050], [165218644, 165218877], [165322312, 165322499], [165324720, 165324796]]

Promoter

Chrom	Start	End	Description
chr1	165325006	165325012	CAGE_peak_2_at_LMX1A_5end
chr1	165325449	165325465	CAGE_peak_3_at_LMX1A_5end
chr1	165325939	165325958	CAGE_peak_1_at_LMX1A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I165398	165398084	165398233	0.38	[{'connected_gene': 'RXRG', 'score': 10.75}, {'connected_gene': 'MGST3', 'score': 10.4}, {'connected_gene': 'LMX1A', 'score': 0.26}, {'connected_gene': 'GC01M165392', 'score': 0.26}]
chr1	GH01I165423	165423799	165425981	0.72	[{'connected_gene': 'RXRG', 'score': 11.45}, {'connected_gene': 'GC01M165392', 'score': 0.39}, {'connected_gene': 'LMX1A', 'score': 0.2}]
chr1	GH01I165236	165236048	165236281	0.76	[{'connected_gene': 'RXRG', 'score': 2.52}, {'connected_gene': 'LOC102725140', 'score': 0.34}, {'connected_gene': 'LMX1A', 'score': 0.13}]
chr1	GH01I165235	165235515	165235885	0.8	[{'connected_gene': 'RXRG', 'score': 6.17}, {'connected_gene': 'LOC102725140', 'score': 0.37}, {'connected_gene': 'LMX1A', 'score': 0.13}]
chr1	GH01I165593	165593044	165593213	0.65	[{'connected_gene': 'MGST3', 'score': 11.06}, {'connected_gene': 'RXRG', 'score': 10.17}, {'connected_gene': 'LMX1A', 'score': 10.01}, {'connected_gene': 'TRK-CTT13-1', 'score': 0.77}, {'connected_gene': 'LOC400794', 'score': 0.39}]
chr1	GH01I165392	165392938	165393773	1.15	[{'connected_gene': 'MGST3', 'score': 11.39}, {'connected_gene': 'LMX1A', 'score': 0.28}, {'connected_gene': 'GC01M165392', 'score': 0.25}]
chr1	GH01I165383	165383184	165383698	0.38	[{'connected_gene': 'LMX1A', 'score': 11.4}, {'connected_gene': 'RXRG', 'score': 10.4}, {'connected_gene': 'GC01M165392', 'score': 0.22}]
chr1	GH01I165351	165350984	165351113	0.38	[{'connected_gene': 'LMX1A', 'score': 0.44}, {'connected_gene': 'LOC102725140', 'score': 0.12}]
chr1	GH01I165342	165342042	165343218	0.2	[{'connected_gene': 'LMX1A', 'score': 0.39}, {'connected_gene': 'LOC102725140', 'score': 0.13}]
chr1	GH01I165350	165350171	165350401	0.34	[{'connected_gene': 'LMX1A', 'score': 8.91}, {'connected_gene': 'LOC102725140', 'score': 0.12}]
chr1	GH01I165357	165356212	165356271	0.73	[{'connected_gene': 'LMX1A', 'score': 550.77}, {'connected_gene': 'LOC102725140', 'score': 0.11}]
chr1	GH01I165364	165364864	165365013	0.56	[{'connected_gene': 'LMX1A', 'score': 0.44}, {'connected_gene': 'GC01M165392', 'score': 0.19}]
chr1	GH01I165356	165356705	165356764	0.68	[{'connected_gene': 'LMX1A', 'score': 550.77}, {'connected_gene': 'GC01M165392', 'score': 0.18}]
chr1	GH01I165367	165367484	165367633	0.57	[{'connected_gene': 'LMX1A', 'score': 0.39}, {'connected_gene': 'GC01M165392', 'score': 0.19}]
chr1	GH01I165375	165375769	165377479	0.95	[{'connected_gene': 'LMX1A', 'score': 0.37}, {'connected_gene': 'GC01M165392', 'score': 0.21}]
chr1	GH01I165162	165162321	165163585	0.62	[{'connected_gene': 'LOC102725140', 'score': 11.01}, {'connected_gene': 'LMX1A', 'score': 10.86}, {'connected_gene': 'LOC105371561', 'score': 0.26}, {'connected_gene': 'RNU6-755P', 'score': 0.09}, {'connected_gene': 'GC01M164980', 'score': 0.09}]