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
ENST00000242249	[[45197389, 45197485], [45216907, 45217040], [45222755, 45223849]]	[[45197427, 45197485], [45216907, 45217040], [45222755, 45223011]]
ENST00000496212	[[45197427, 45197485], [45216907, 45217040], [45222755, 45223007], [45225797, 45225897]]	[[45197427, 45197485], [45216907, 45217040], [45222755, 45223007], [45225797, 45225810]]
ENST00000481345	[[45197427, 45197485], [45216907, 45217040], [45222755, 45223019], [45225797, 45225901]]	[[45197427, 45197485], [45216907, 45217040], [45222755, 45223011]]
NM_005856	[[45197366, 45197485], [45216907, 45217040], [45222755, 45223849]]	[[45197427, 45197485], [45216907, 45217040], [45222755, 45223011]]

Promoter

Chrom	Start	End	Description
chr7	45197383	45197437	CAGE_peak_1_at_RAMP3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I045122	45122255	45124336	0.2	[{'connected_gene': 'TBRG4', 'score': 11.48}, {'connected_gene': 'CCM2', 'score': 10.84}, {'connected_gene': 'ENSG00000260997', 'score': 10.64}, {'connected_gene': 'SNHG15', 'score': 7.74}, {'connected_gene': 'RAMP3', 'score': 0.29}, {'connected_gene': 'GC07P045063', 'score': 0.21}]
chr7	GH07I045108	45108918	45112951	2.1	[{'connected_gene': 'TBRG4', 'score': 565.69}, {'connected_gene': 'SNHG15', 'score': 20.06}, {'connected_gene': 'NACAD', 'score': 16.9}, {'connected_gene': 'CCM2', 'score': 16.63}, {'connected_gene': 'RAMP3', 'score': 12.04}, {'connected_gene': 'SNORA5B', 'score': 0.77}, {'connected_gene': 'GC07P045063', 'score': 0.25}]
chr7	GH07I045135	45135982	45136131	0.7	[{'connected_gene': 'TBRG4', 'score': 0.34}, {'connected_gene': 'RAMP3', 'score': 0.34}, {'connected_gene': 'GC07P045063', 'score': 0.19}]
chr7	GH07I045211	45211066	45211390	0.36	[{'connected_gene': 'CAMK2B', 'score': 5.27}, {'connected_gene': 'RAMP3', 'score': 4.83}, {'connected_gene': 'GC07P045166', 'score': 0.26}, {'connected_gene': 'GC07M045182', 'score': 0.21}]
chr7	GH07I044975	44975655	44982189	2.41	[{'connected_gene': 'MYO1G', 'score': 570.47}, {'connected_gene': 'CCM2', 'score': 32.69}, {'connected_gene': 'ENSG00000260997', 'score': 18.12}, {'connected_gene': 'PURB', 'score': 11.97}, {'connected_gene': 'RAMP3', 'score': 10.82}, {'connected_gene': 'SNHG15', 'score': 10.43}, {'connected_gene': 'OGDH', 'score': 3.42}, {'connected_gene': 'ZMIZ2', 'score': 1.98}]
chr7	GH07I045136	45136202	45137450	0.79	[{'connected_gene': 'SNHG15', 'score': 6.81}, {'connected_gene': 'TBRG4', 'score': 6.34}, {'connected_gene': 'RAMP3', 'score': 0.34}, {'connected_gene': 'GC07P045063', 'score': 0.19}]
chr7	GH07I044983	44983027	44988251	1.77	[{'connected_gene': 'SNHG15', 'score': 579.1}, {'connected_gene': 'SNORA9', 'score': 550.77}, {'connected_gene': 'GC07M044985', 'score': 550.77}, {'connected_gene': 'DDX56', 'score': 25.85}, {'connected_gene': 'CCM2', 'score': 21.07}, {'connected_gene': 'POLM', 'score': 19.18}, {'connected_gene': 'SNORA5C', 'score': 18.23}, {'connected_gene': 'ENSG00000260997', 'score': 15.93}, {'connected_gene': 'TMED4', 'score': 14.8}, {'connected_gene': 'SNORA5A', 'score': 12.01}, {'connected_gene': 'SNORA5B', 'score': 11.55}, {'connected_gene': 'CICP20', 'score': 10.86}, {'connected_gene': 'RAMP3', 'score': 10.82}, {'connected_gene': 'ENSG00000228434', 'score': 10.52}, {'connected_gene': 'TBRG4', 'score': 5.1}]
chr7	GH07I045154	45154722	45154891	0.77	[{'connected_gene': 'RAMP3', 'score': 0.77}, {'connected_gene': 'TBRG4', 'score': 0.26}, {'connected_gene': 'GC07P045063', 'score': 0.16}]
chr7	GH07I044982	44982682	44982831	0.66	[{'connected_gene': 'RAMP3', 'score': 10.82}, {'connected_gene': 'MYO1G', 'score': 0.77}, {'connected_gene': 'GC07M044985', 'score': 0.77}, {'connected_gene': 'SNORA9', 'score': 0.77}]
chr7	GH07I045205	45205011	45205376	0.22	[{'connected_gene': 'RAMP3', 'score': 5.52}, {'connected_gene': 'MYO1G', 'score': 2.29}, {'connected_gene': 'PURB', 'score': 1.89}, {'connected_gene': 'GC07P045166', 'score': 0.28}, {'connected_gene': 'GC07M045182', 'score': 0.2}]
chr7	GH07I045239	45239600	45239801	0.2	[{'connected_gene': 'RAMP3', 'score': 11.07}, {'connected_gene': 'GC07M045182', 'score': 0.29}, {'connected_gene': 'GC07P045166', 'score': 0.19}]
chr7	GH07I045258	45258634	45258769	0.23	[{'connected_gene': 'RAMP3', 'score': 3.44}, {'connected_gene': 'GC07M045182', 'score': 0.39}, {'connected_gene': 'GC07P045166', 'score': 0.16}]
chr7	GH07I045157	45157742	45157801	0.68	[{'connected_gene': 'RAMP3', 'score': 550.77}, {'connected_gene': 'GC07P045166', 'score': 0.44}, {'connected_gene': 'GC07P045063', 'score': 0.16}]
chr7	GH07I044725	44725246	44725552	0.25	[{'connected_gene': 'ENSG00000228596', 'score': 11.61}, {'connected_gene': 'H2AFV', 'score': 10.69}, {'connected_gene': 'LINC01952', 'score': 10.69}, {'connected_gene': 'ZMIZ2', 'score': 5.96}, {'connected_gene': 'RAMP3', 'score': 1.72}, {'connected_gene': 'GC07M044657', 'score': 0.34}, {'connected_gene': 'GC07P044747', 'score': 0.34}]