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
ENST00000366615	[[234509201, 234509424], [234509975, 234510135], [234519468, 234519795]]	[[234509212, 234509424], [234509975, 234510135], [234519468, 234519564]]
ENST00000366613	[[234509428, 234509586], [234509975, 234510135], [234519468, 234519791]]	[[234509464, 234509586], [234509975, 234510135], [234519468, 234519564]]
ENST00000366612	[[234509446, 234510135], [234519468, 234519792]]	[[234509991, 234510135], [234519468, 234519564]]
NM_001206641	[[234509182, 234509424], [234509975, 234510135], [234519468, 234519795]]	[[234509212, 234509424], [234509975, 234510135], [234519468, 234519564]]
NM_001012985	[[234509428, 234509586], [234509975, 234510135], [234519468, 234519795]]	[[234509464, 234509586], [234509975, 234510135], [234519468, 234519564]]
NM_001301733	[[234509446, 234510135], [234519468, 234519795]]	[[234509991, 234510135], [234519468, 234519564]]

Promoter

Chrom	Start	End	Description
chr1	234509186	234509216	CAGE_peak_2_at_C1orf31_5end
chr1	234509223	234509305	CAGE_peak_1_at_C1orf31_5end
chr1	234509315	234509323	CAGE_peak_7_at_C1orf31_5end
chr1	234509413	234509431	CAGE_peak_4_at_C1orf31_5end
chr1	234509479	234509504	CAGE_peak_3_at_C1orf31_5end
chr1	234509506	234509518	CAGE_peak_5_at_C1orf31_5end
chr1	234509528	234509539	CAGE_peak_6_at_C1orf31_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I234423	234423430	234423770	0.22	[{'connected_gene': 'COA6', 'score': 10.8}, {'connected_gene': 'PIR53843', 'score': 0.39}, {'connected_gene': 'TARBP1', 'score': 0.22}]
chr1	GH01I234368	234368966	234375005	2.14	[{'connected_gene': 'COA6', 'score': 597.89}, {'connected_gene': 'LOC101927765', 'score': 585.72}, {'connected_gene': 'ENSG00000273367', 'score': 550.77}, {'connected_gene': 'TBCE', 'score': 38.86}, {'connected_gene': 'ARID4B', 'score': 31.82}, {'connected_gene': 'IRF2BP2', 'score': 12.63}, {'connected_gene': 'LINC01354', 'score': 10.76}, {'connected_gene': 'GGPS1', 'score': 10.26}, {'connected_gene': 'RPS15P2', 'score': 0.39}]
chr1	GH01I234313	234313033	234316559	1.4	[{'connected_gene': 'SLC35F3', 'score': 14.5}, {'connected_gene': 'RPS15P2', 'score': 11.82}, {'connected_gene': 'ENSG00000236358', 'score': 11.82}, {'connected_gene': 'LOC101927765', 'score': 11.14}, {'connected_gene': 'COA6', 'score': 11.14}, {'connected_gene': 'LOC102724100', 'score': 10.81}, {'connected_gene': 'IRF2BP2', 'score': 3.85}, {'connected_gene': 'MIR4671', 'score': 0.44}]
chr1	GH01I234398	234398088	234399600	1.24	[{'connected_gene': 'LOC101927765', 'score': 26.35}, {'connected_gene': 'COA6', 'score': 22.27}, {'connected_gene': 'PIR42213', 'score': 0.44}, {'connected_gene': 'TARBP1', 'score': 0.18}]
chr1	GH01I234400	234400441	234402087	0.79	[{'connected_gene': 'LOC101927765', 'score': 30.56}, {'connected_gene': 'COA6', 'score': 12.76}, {'connected_gene': 'PIR42213', 'score': 0.44}, {'connected_gene': 'TARBP1', 'score': 0.18}]
chr1	GH01I234334	234334720	234334945	0.22	[{'connected_gene': 'LOC101927765', 'score': 11.6}, {'connected_gene': 'COA6', 'score': 11.6}, {'connected_gene': 'LOC102724100', 'score': 9.33}, {'connected_gene': 'ENSG00000236358', 'score': 0.34}, {'connected_gene': 'MIR4671', 'score': 0.31}]
chr1	GH01I234320	234320655	234320804	0.56	[{'connected_gene': 'RPS15P2', 'score': 11.89}, {'connected_gene': 'ENSG00000236358', 'score': 11.89}, {'connected_gene': 'LOC101927765', 'score': 10.95}, {'connected_gene': 'COA6', 'score': 10.95}, {'connected_gene': 'LOC102724100', 'score': 10.75}, {'connected_gene': 'SLC35F3', 'score': 10.55}, {'connected_gene': 'MIR4671', 'score': 0.39}]
chr1	GH01I234323	234323115	234323400	0.87	[{'connected_gene': 'RPS15P2', 'score': 11.91}, {'connected_gene': 'ENSG00000236358', 'score': 11.91}, {'connected_gene': 'LOC101927765', 'score': 10.95}, {'connected_gene': 'COA6', 'score': 10.95}, {'connected_gene': 'LOC102724100', 'score': 10.74}, {'connected_gene': 'MIR4671', 'score': 0.37}, {'connected_gene': 'SLC35F3', 'score': 0.05}]
chr1	GH01I234326	234326201	234327364	1.03	[{'connected_gene': 'RPS15P2', 'score': 11.91}, {'connected_gene': 'ENSG00000236358', 'score': 11.91}, {'connected_gene': 'LOC101927765', 'score': 10.96}, {'connected_gene': 'COA6', 'score': 10.96}, {'connected_gene': 'LOC102724100', 'score': 10.74}, {'connected_gene': 'MIR4671', 'score': 0.34}]
chr1	GH01I234327	234327507	234327684	0.59	[{'connected_gene': 'RPS15P2', 'score': 11.93}, {'connected_gene': 'ENSG00000236358', 'score': 11.93}, {'connected_gene': 'LOC101927765', 'score': 10.96}, {'connected_gene': 'COA6', 'score': 10.96}, {'connected_gene': 'LOC102724100', 'score': 10.74}, {'connected_gene': 'MIR4671', 'score': 0.34}]