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
ENST00000578114	[[29202209, 29205724], [29206245, 29206347], [29206951, 29207084], [29210921, 29211109], [29237938, 29238427]]	None
ENST00000306851	[[29203131, 29205724], [29206245, 29206347], [29206961, 29207084], [29210921, 29211109], [29218606, 29218723], [29225317, 29225442], [29237938, 29238052], [29246218, 29246335], [29264274, 29264686]]	[[29205576, 29205724], [29206245, 29206347], [29206961, 29207084], [29210921, 29211109], [29218606, 29218723], [29225317, 29225442], [29237938, 29238052], [29246218, 29246335], [29264274, 29264389]]
ENST00000237019	[[29204625, 29205724], [29206245, 29206347], [29206961, 29207084], [29210921, 29211109], [29218606, 29218723], [29225317, 29225442], [29237938, 29238052], [29264274, 29264534]]	[[29205576, 29205724], [29206245, 29206347], [29206961, 29207084], [29210921, 29211109], [29218606, 29218723], [29225317, 29225442], [29237938, 29238052], [29264274, 29264389]]
ENST00000383131	[[29205447, 29205724], [29206245, 29206347], [29206961, 29207084], [29210921, 29211109], [29225317, 29225442], [29237938, 29238052], [29246218, 29246335], [29264274, 29264467]]	[[29205576, 29205724], [29206245, 29206347], [29206961, 29207084], [29210921, 29211109], [29225317, 29225442], [29237938, 29238052], [29246218, 29246335], [29264274, 29264389]]
ENST00000579372	[[29237937, 29238052], [29246218, 29246335], [29265692, 29265799]]	[[29237937, 29238052], [29246218, 29246318]]
NM_001330570	[[29200998, 29205724], [29206245, 29206347], [29206961, 29207084], [29210921, 29211109], [29218606, 29218723], [29225317, 29225442], [29237938, 29238052], [29264274, 29264686]]	[[29205576, 29205724], [29206245, 29206347], [29206961, 29207084], [29210921, 29211109], [29218606, 29218723], [29225317, 29225442], [29237938, 29238052], [29264274, 29264389]]
NM_004775	[[29202208, 29205724], [29206245, 29206347], [29206961, 29207084], [29210921, 29211109], [29218606, 29218723], [29225317, 29225442], [29237938, 29238052], [29246218, 29246335], [29264274, 29264686]]	[[29205576, 29205724], [29206245, 29206347], [29206961, 29207084], [29210921, 29211109], [29218606, 29218723], [29225317, 29225442], [29237938, 29238052], [29246218, 29246335], [29264274, 29264389]]

Promoter

Chrom	Start	End	Description
chr18	29264511	29264551	CAGE_peak_1_at_B4GALT6_5end
chr18	29264628	29264658	CAGE_peak_3_at_B4GALT6_5end
chr18	29264669	29264717	CAGE_peak_2_at_B4GALT6_5end
chr18	29264924	29264947	CAGE_peak_5_at_B4GALT6_5end
chr18	29265178	29265185	CAGE_peak_6_at_B4GALT6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I031677	31677427	31687504	2.36	[{'connected_gene': 'B4GALT6', 'score': 555.9}, {'connected_gene': 'TTR', 'score': 10.3}, {'connected_gene': 'GC18P031684', 'score': 0.77}, {'connected_gene': 'ENSG00000259985', 'score': 0.77}, {'connected_gene': 'GC18M031541', 'score': 0.22}]
chr18	GH18I031645	31645978	31649502	1.48	[{'connected_gene': 'B4GALT6', 'score': 12.07}, {'connected_gene': 'RNF125', 'score': 1.18}, {'connected_gene': 'GC18M031541', 'score': 0.34}, {'connected_gene': 'GC18P031684', 'score': 0.28}]
chr18	GH18I031610	31610978	31611147	0.62	[{'connected_gene': 'B4GALT6', 'score': 10.99}, {'connected_gene': 'TRAPPC8', 'score': 9.95}, {'connected_gene': 'GC18M031541', 'score': 0.39}, {'connected_gene': 'TTR', 'score': 0.37}]
chr18	GH18I031581	31581520	31582225	0.85	[{'connected_gene': 'B4GALT6', 'score': 16.76}, {'connected_gene': 'SLC25A52', 'score': 9.55}, {'connected_gene': 'TTR', 'score': 0.44}, {'connected_gene': 'DSG2-AS1', 'score': 0.34}, {'connected_gene': 'GC18M031541', 'score': 0.26}]
chr18	GH18I031571	31571998	31573736	0.59	[{'connected_gene': 'B4GALT6', 'score': 11.22}, {'connected_gene': 'SLC25A52', 'score': 9.94}, {'connected_gene': 'DSG2-AS1', 'score': 0.37}, {'connected_gene': 'TTR', 'score': 0.37}, {'connected_gene': 'GC18M031541', 'score': 0.23}]
chr18	GH18I031724	31724001	31724800	0.79	[{'connected_gene': 'B4GALT6', 'score': 550.77}, {'connected_gene': 'LRRC37A7P', 'score': 550.77}, {'connected_gene': 'LOC390846', 'score': 550.77}]
chr18	GH18I031657	31657480	31659916	1.34	[{'connected_gene': 'B4GALT6', 'score': 4.44}, {'connected_gene': 'GC18P031684', 'score': 0.31}, {'connected_gene': 'GC18M031541', 'score': 0.28}]
chr18	GH18I031688	31688287	31689753	0.2	[{'connected_gene': 'B4GALT6', 'score': 5.65}, {'connected_gene': 'ENSG00000259985', 'score': 0.77}, {'connected_gene': 'GC18P031719', 'score': 0.31}]
chr18	GH18I031672	31672258	31673545	0.69	[{'connected_gene': 'B4GALT6', 'score': 6.64}, {'connected_gene': 'GC18P031684', 'score': 0.39}, {'connected_gene': 'GC18M031541', 'score': 0.25}]
chr18	GH18I031649	31649893	31651319	0.92	[{'connected_gene': 'B4GALT6', 'score': 4.47}, {'connected_gene': 'GC18M031541', 'score': 0.31}, {'connected_gene': 'GC18P031684', 'score': 0.29}]
chr18	GH18I031563	31563619	31563950	0.51	[{'connected_gene': 'TTR', 'score': 14.88}, {'connected_gene': 'B4GALT6', 'score': 10.93}, {'connected_gene': 'DSG2', 'score': 6.05}, {'connected_gene': 'DSG2-AS1', 'score': 0.44}, {'connected_gene': 'GC18M031541', 'score': 0.22}]
chr18	GH18I031565	31565709	31567491	0.8	[{'connected_gene': 'TTR', 'score': 12.38}, {'connected_gene': 'B4GALT6', 'score': 11.22}, {'connected_gene': 'SLC25A52', 'score': 10.37}, {'connected_gene': 'TRAPPC8', 'score': 9.62}, {'connected_gene': 'DSG2', 'score': 8.19}, {'connected_gene': 'DSG2-AS1', 'score': 0.44}, {'connected_gene': 'GC18M031541', 'score': 0.22}]
chr18	GH18I031632	31632788	31635912	0.91	[{'connected_gene': 'TTR', 'score': 11.0}, {'connected_gene': 'GC18M031541', 'score': 0.39}, {'connected_gene': 'GC18P031684', 'score': 0.23}, {'connected_gene': 'B4GALT6', 'score': 0.16}]
chr18	GH18I031720	31720474	31721894	0.2	[{'connected_gene': 'TTR', 'score': 10.9}, {'connected_gene': 'SLC25A52', 'score': 10.17}, {'connected_gene': 'RN7SKP44', 'score': 0.77}, {'connected_gene': 'B4GALT6', 'score': 0.77}, {'connected_gene': 'LRRC37A7P', 'score': 0.77}]
chr18	GH18I032091	32091078	32095061	2.29	[{'connected_gene': 'RNF138', 'score': 561.27}, {'connected_gene': 'LOC107985133', 'score': 550.77}, {'connected_gene': 'ENSG00000263924', 'score': 34.0}, {'connected_gene': 'ENSG00000263393', 'score': 22.49}, {'connected_gene': 'HNRNPA1P7', 'score': 10.7}, {'connected_gene': 'TRAPPC8', 'score': 10.58}, {'connected_gene': 'RNF125', 'score': 5.26}, {'connected_gene': 'B4GALT6', 'score': 4.98}, {'connected_gene': 'ENSG00000263917', 'score': 0.19}]
chr18	GH18I031555	31555978	31556167	0.69	[{'connected_gene': 'DSG2-AS1', 'score': 550.77}, {'connected_gene': 'B4GALT6', 'score': 11.31}, {'connected_gene': 'TRAPPC8', 'score': 10.34}, {'connected_gene': 'ENSG00000266521', 'score': 6.06}, {'connected_gene': 'DSG2', 'score': 0.22}, {'connected_gene': 'GC18M031541', 'score': 0.2}]
chr18	GH18I031722	31722478	31722647	0.6	[{'connected_gene': 'LRRC37A7P', 'score': 550.77}, {'connected_gene': 'RN7SKP44', 'score': 0.77}, {'connected_gene': 'B4GALT6', 'score': 0.77}]
chr18	GH18I031509	31509651	31514649	1.65	[{'connected_gene': 'ENSG00000266521', 'score': 21.6}, {'connected_gene': 'B4GALT6', 'score': 4.27}, {'connected_gene': 'DSG2', 'score': 3.56}, {'connected_gene': 'DSC3', 'score': 2.98}, {'connected_gene': 'DSG1', 'score': 2.69}, {'connected_gene': 'DSC2', 'score': 1.28}, {'connected_gene': 'DSG2-AS1', 'score': 0.26}]
chr18	GH18I031715	31715828	31717108	0.46	[{'connected_gene': 'GC18P031719', 'score': 0.77}, {'connected_gene': 'B4GALT6', 'score': 0.44}, {'connected_gene': 'ENSG00000259985', 'score': 0.29}]
chr18	GH18I031670	31670147	31670937	0.31	[{'connected_gene': 'GC18P031684', 'score': 0.39}, {'connected_gene': 'GC18M031541', 'score': 0.25}, {'connected_gene': 'B4GALT6', 'score': 0.23}]
chr18	GH18I031652	31652401	31652800	0.76	[{'connected_gene': 'GC18M031541', 'score': 0.31}, {'connected_gene': 'GC18P031684', 'score': 0.29}, {'connected_gene': 'B4GALT6', 'score': 0.19}]