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
ENST00000282561	[[121756837, 121756978], [121767977, 121770873]]	[[121767993, 121769142]]
NM_000165	[[121756722, 121756978], [121767977, 121770890]]	[[121767993, 121769142]]

Promoter

Chrom	Start	End	Description
chr6	121756737	121756744	CAGE_peak_3_at_GJA1_5end
chr6	121756777	121756800	CAGE_peak_1_at_GJA1_5end
chr6	121756809	121756831	CAGE_peak_2_at_GJA1_5end
chr6	121756901	121756912	CAGE_peak_4_at_GJA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I121650	121650901	121654262	0.83	[{'connected_gene': 'SLC25A5P7', 'score': 550.77}, {'connected_gene': 'GJA1', 'score': 5.61}, {'connected_gene': 'ENSG00000220326', 'score': 0.39}]
chr6	GH06I121529	121529342	121530199	0.2	[{'connected_gene': 'GJA1', 'score': 4.93}, {'connected_gene': 'RNU4-76P', 'score': 0.39}, {'connected_gene': 'GC06M121543', 'score': 0.39}, {'connected_gene': 'LOC260339', 'score': 0.25}]
chr6	GH06I121434	121434400	121440654	2.54	[{'connected_gene': 'GJA1', 'score': 560.6}, {'connected_gene': 'GC06P121435', 'score': 550.77}, {'connected_gene': 'RNU2-8P', 'score': 9.84}, {'connected_gene': 'TBC1D32', 'score': 5.12}, {'connected_gene': 'GC06P121443', 'score': 0.44}]
chr6	GH06I121592	121592981	121593784	0.79	[{'connected_gene': 'GJA1', 'score': 6.37}, {'connected_gene': 'GC06M121581', 'score': 0.39}, {'connected_gene': 'RNU2-8P', 'score': 0.39}, {'connected_gene': 'ENSG00000220326', 'score': 0.25}]
chr6	GH06I121793	121793920	121795397	0.54	[{'connected_gene': 'GJA1', 'score': 6.15}, {'connected_gene': 'LOC105377979', 'score': 0.31}, {'connected_gene': 'GC06P121853', 'score': 0.22}, {'connected_gene': 'PIR51086', 'score': 0.22}]
chr6	GH06I121838	121838789	121839229	0.49	[{'connected_gene': 'GJA1', 'score': 4.38}, {'connected_gene': 'GC06P121853', 'score': 0.39}, {'connected_gene': 'PIR51086', 'score': 0.39}, {'connected_gene': 'LOC105377979', 'score': 0.19}]
chr6	GH06I121881	121881868	121883024	0.31	[{'connected_gene': 'GJA1', 'score': 3.93}, {'connected_gene': 'LOC105377978', 'score': 0.77}, {'connected_gene': 'HMGB3P18', 'score': 0.34}, {'connected_gene': 'LOC105377979', 'score': 0.13}]
chr6	GH06I121896	121896480	121897828	0.38	[{'connected_gene': 'GJA1', 'score': 5.76}, {'connected_gene': 'LOC105377978', 'score': 0.39}, {'connected_gene': 'LOC105377979', 'score': 0.13}, {'connected_gene': 'PIR61965', 'score': 0.06}]
chr6	GH06I122007	122007146	122009677	0.43	[{'connected_gene': 'GJA1', 'score': 4.99}, {'connected_gene': 'LOC105377978', 'score': 0.13}, {'connected_gene': 'PIR61965', 'score': 0.1}, {'connected_gene': 'LOC105377979', 'score': 0.07}]
chr6	GH06I121931	121931779	121933512	1.12	[{'connected_gene': 'GJA1', 'score': 6.48}, {'connected_gene': 'LOC105377978', 'score': 0.25}, {'connected_gene': 'LOC105377979', 'score': 0.1}, {'connected_gene': 'PIR61965', 'score': 0.07}]
chr6	GH06I121479	121479380	121481024	0.43	[{'connected_gene': 'LOC260339', 'score': 550.77}, {'connected_gene': 'RNU4-35P', 'score': 11.72}, {'connected_gene': 'RNU4-76P', 'score': 10.58}, {'connected_gene': 'GJA1', 'score': 4.43}, {'connected_gene': 'GC06M121543', 'score': 0.21}]
chr6	GH06I121822	121822208	121824273	0.74	[{'connected_gene': 'RNU4-35P', 'score': 10.13}, {'connected_gene': 'GJA1', 'score': 6.84}, {'connected_gene': 'GC06P121853', 'score': 0.31}, {'connected_gene': 'PIR51086', 'score': 0.31}, {'connected_gene': 'LOC105377979', 'score': 0.22}]
chr6	GH06I121430	121430575	121433029	1.15	[{'connected_gene': 'RNU4-35P', 'score': 10.76}, {'connected_gene': 'GJA1', 'score': 4.79}, {'connected_gene': 'HMGN2P29', 'score': 0.34}]
chr6	GH06I121503	121503207	121505625	1.02	[{'connected_gene': 'RNU4-35P', 'score': 11.2}, {'connected_gene': 'RNU4-76P', 'score': 11.15}, {'connected_gene': 'GJA1', 'score': 4.33}, {'connected_gene': 'LOC260339', 'score': 0.34}, {'connected_gene': 'GC06M121543', 'score': 0.28}]
chr6	GH06I121481	121481221	121483193	0.66	[{'connected_gene': 'RNU4-35P', 'score': 11.82}, {'connected_gene': 'RNU4-76P', 'score': 11.16}, {'connected_gene': 'GJA1', 'score': 4.65}, {'connected_gene': 'LOC260339', 'score': 0.77}, {'connected_gene': 'GC06M121543', 'score': 0.21}]
chr6	GH06I121506	121506688	121507601	0.78	[{'connected_gene': 'RNU4-76P', 'score': 11.15}, {'connected_gene': 'GJA1', 'score': 5.21}, {'connected_gene': 'LOC260339', 'score': 0.31}, {'connected_gene': 'GC06M121543', 'score': 0.28}]
chr6	GH06I121572	121572641	121574600	0.88	[{'connected_gene': 'RNU4-76P', 'score': 11.45}, {'connected_gene': 'GJA1', 'score': 6.92}, {'connected_gene': 'GC06M121581', 'score': 0.44}, {'connected_gene': 'RNU2-8P', 'score': 0.44}, {'connected_gene': 'GC06M121543', 'score': 0.29}]
chr6	GH06I121779	121779588	121781545	0.88	[{'connected_gene': 'RNU4-76P', 'score': 10.25}, {'connected_gene': 'RNU4-35P', 'score': 10.16}, {'connected_gene': 'GJA1', 'score': 6.84}, {'connected_gene': 'LOC105377979', 'score': 0.39}, {'connected_gene': 'GC06P121853', 'score': 0.19}, {'connected_gene': 'PIR51086', 'score': 0.19}]
chr6	GH06I121518	121518521	121524479	1.3	[{'connected_gene': 'RNU4-76P', 'score': 11.97}, {'connected_gene': 'RNU2-8P', 'score': 10.68}, {'connected_gene': 'GJA1', 'score': 8.05}, {'connected_gene': 'GC06M121543', 'score': 0.34}, {'connected_gene': 'LOC260339', 'score': 0.26}]
chr6	GH06I121514	121514981	121517516	0.62	[{'connected_gene': 'RNU4-76P', 'score': 11.77}, {'connected_gene': 'RNU2-8P', 'score': 10.82}, {'connected_gene': 'GJA1', 'score': 7.2}, {'connected_gene': 'GC06M121543', 'score': 0.31}, {'connected_gene': 'LOC260339', 'score': 0.28}]
chr6	GH06I121441	121441201	121441400	0.4	[{'connected_gene': 'RNU2-8P', 'score': 9.85}, {'connected_gene': 'GC06P121443', 'score': 0.77}, {'connected_gene': 'GJA1', 'score': 0.44}, {'connected_gene': 'GC06P121435', 'score': 0.44}]
chr6	GH06I121766	121766647	121768397	0.2	[{'connected_gene': 'LOC105377979', 'score': 550.77}, {'connected_gene': 'GJA1', 'score': 6.84}, {'connected_gene': 'GC06P121853', 'score': 0.17}, {'connected_gene': 'PIR51086', 'score': 0.17}]
chr6	GH06I121885	121885126	121886843	0.83	[{'connected_gene': 'LOC105377978', 'score': 550.77}, {'connected_gene': 'GJA1', 'score': 6.2}, {'connected_gene': 'LOC105377979', 'score': 0.13}, {'connected_gene': 'PIR61965', 'score': 0.06}]
chr6	GH06I121443	121443569	121443628	0.7	[{'connected_gene': 'GC06P121443', 'score': 550.77}, {'connected_gene': 'GJA1', 'score': 550.44}, {'connected_gene': 'GC06P121435', 'score': 0.44}]
chr6	GH06I121442	121442401	121443000	0.51	[{'connected_gene': 'GC06P121443', 'score': 550.77}, {'connected_gene': 'GJA1', 'score': 0.44}, {'connected_gene': 'GC06P121435', 'score': 0.44}]
chr6	GH06I121850	121850280	121851824	0.78	[{'connected_gene': 'GC06P121853', 'score': 550.77}, {'connected_gene': 'PIR51086', 'score': 550.77}, {'connected_gene': 'RNU4-35P', 'score': 10.27}, {'connected_gene': 'GJA1', 'score': 5.85}, {'connected_gene': 'LOC105377979', 'score': 0.18}]
chr6	GH06I121446	121446289	121447464	0.4	[{'connected_gene': 'GC06P121443', 'score': 0.77}, {'connected_gene': 'RNU4-35P', 'score': 0.44}, {'connected_gene': 'GC06M121454', 'score': 0.44}, {'connected_gene': 'GJA1', 'score': 0.39}]
chr6	GH06I121444	121444200	121444601	0.58	[{'connected_gene': 'GC06P121443', 'score': 550.77}, {'connected_gene': 'RNU4-35P', 'score': 0.44}, {'connected_gene': 'GJA1', 'score': 0.44}, {'connected_gene': 'GC06M121454', 'score': 0.44}]
chr6	GH06I121445	121441601	121442000	0.58	[{'connected_gene': 'GC06P121443', 'score': 550.77}, {'connected_gene': 'RNU2-8P', 'score': 9.85}, {'connected_gene': 'GJA1', 'score': 0.44}, {'connected_gene': 'GC06P121435', 'score': 0.44}]