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
ENST00000270115	[[537526, 537605], [538597, 538860], [539579, 539726], [540673, 540861], [541536, 541624], [544719, 544780], [549901, 549998], [550071, 550272], [551130, 551302], [551650, 551827], [551902, 551967], [552089, 552232], [552568, 552702], [553962, 554916]]	[[540684, 540861], [541536, 541624], [544719, 544780], [549901, 549998], [550071, 550272], [551130, 551302], [551650, 551827], [551902, 551967], [552089, 552232], [552568, 552702], [553962, 554276]]
NM_198075	[[537521, 537605], [538597, 538860], [539579, 539726], [540673, 540861], [541536, 541624], [544719, 544780], [549901, 549998], [550071, 550272], [551130, 551302], [551650, 551827], [551902, 551967], [552089, 552232], [552568, 552702], [553962, 554916]]	[[540684, 540861], [541536, 541624], [544719, 544780], [549901, 549998], [550071, 550272], [551130, 551302], [551650, 551827], [551902, 551967], [552089, 552232], [552568, 552702], [553962, 554276]]

Promoter

Chrom	Start	End	Description
chr11	537494	537537	CAGE_peak_1_at_LRRC56_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I000443	443626	451865	2.51	[{'connected_gene': 'PTDSS2', 'score': 563.3}, {'connected_gene': 'RNH1', 'score': 20.23}, {'connected_gene': 'LRRC56', 'score': 19.2}, {'connected_gene': 'TSPAN4', 'score': 19.17}, {'connected_gene': 'SNORA52', 'score': 16.77}, {'connected_gene': 'PHRF1', 'score': 14.42}, {'connected_gene': 'ENSG00000255237', 'score': 12.72}, {'connected_gene': 'ANO9', 'score': 12.14}, {'connected_gene': 'HRAS', 'score': 11.34}, {'connected_gene': 'BET1L', 'score': 10.84}, {'connected_gene': 'RIC8A', 'score': 10.84}, {'connected_gene': 'GC11M000452', 'score': 0.44}]
chr11	GH11I000611	611622	617009	2.1	[{'connected_gene': 'IRF7', 'score': 550.77}, {'connected_gene': 'HRAS', 'score': 12.04}, {'connected_gene': 'TMEM80', 'score': 11.82}, {'connected_gene': 'RNH1', 'score': 8.35}, {'connected_gene': 'LRRC56', 'score': 7.1}, {'connected_gene': 'GC11P000616', 'score': 0.77}, {'connected_gene': 'CDHR5', 'score': 0.39}, {'connected_gene': 'PIR42218', 'score': 0.34}, {'connected_gene': 'PHRF1', 'score': 0.28}]
chr11	GH11I000544	544271	544757	0.31	[{'connected_gene': 'HRAS', 'score': 0.44}, {'connected_gene': 'LOC692247', 'score': 0.39}, {'connected_gene': 'LRRC56', 'score': 0.31}]
chr11	GH11I000541	541056	541921	0.43	[{'connected_gene': 'HRAS', 'score': 0.77}, {'connected_gene': 'LOC692247', 'score': 0.37}, {'connected_gene': 'LRRC56', 'score': 0.34}]
chr11	GH11I000494	494349	495943	0.63	[{'connected_gene': 'RNH1', 'score': 18.33}, {'connected_gene': 'PTDSS2', 'score': 13.06}, {'connected_gene': 'LRRC56', 'score': 6.5}, {'connected_gene': 'GC11P000498', 'score': 0.77}, {'connected_gene': 'ENSG00000255237', 'score': 0.29}]
chr11	GH11I000539	539762	540337	0.38	[{'connected_gene': 'RNH1', 'score': 17.1}, {'connected_gene': 'HRAS', 'score': 15.93}, {'connected_gene': 'SIGIRR', 'score': 6.29}, {'connected_gene': 'LOC692247', 'score': 0.37}, {'connected_gene': 'LRRC56', 'score': 0.34}]
chr11	GH11I000532	532173	533117	0.2	[{'connected_gene': 'RNH1', 'score': 18.0}, {'connected_gene': 'TMEM80', 'score': 11.38}, {'connected_gene': 'HRAS', 'score': 0.77}, {'connected_gene': 'LOC101059906', 'score': 0.77}, {'connected_gene': 'LRRC56', 'score': 0.39}]
chr11	GH11I000501	501960	508501	2.24	[{'connected_gene': 'RNH1', 'score': 568.91}, {'connected_gene': 'GC11M000506', 'score': 550.77}, {'connected_gene': 'GC11P000507', 'score': 550.77}, {'connected_gene': 'GC11M000505', 'score': 550.77}, {'connected_gene': 'LRRC56', 'score': 22.04}, {'connected_gene': 'PTDSS2', 'score': 17.54}, {'connected_gene': 'GATD1', 'score': 10.76}, {'connected_gene': 'DRD4', 'score': 8.58}, {'connected_gene': 'TMEM80', 'score': 5.36}, {'connected_gene': 'GC11P000497', 'score': 0.44}]
chr11	GH11I000924	924301	929307	2.62	[{'connected_gene': 'AP2A2', 'score': 558.7}, {'connected_gene': 'GC11M000925', 'score': 550.77}, {'connected_gene': 'POLR2L', 'score': 5.58}, {'connected_gene': 'LRRC56', 'score': 4.87}, {'connected_gene': 'BRSK2', 'score': 1.94}, {'connected_gene': 'CEND1', 'score': 1.3}]
chr11	GH11I000534	534161	538417	2.22	[{'connected_gene': 'LRRC56', 'score': 568.29}, {'connected_gene': 'HRAS', 'score': 567.77}, {'connected_gene': 'TMEM80', 'score': 22.35}, {'connected_gene': 'RNH1', 'score': 16.6}, {'connected_gene': 'PIDD1', 'score': 12.84}, {'connected_gene': 'DRD4', 'score': 12.76}, {'connected_gene': 'PHRF1', 'score': 12.05}, {'connected_gene': 'GATD1', 'score': 10.81}, {'connected_gene': 'ENSG00000255142', 'score': 10.77}, {'connected_gene': 'ENSG00000255158', 'score': 10.3}, {'connected_gene': 'ENSG00000255237', 'score': 10.1}, {'connected_gene': 'LMNTD2', 'score': 7.0}, {'connected_gene': 'LOC101059906', 'score': 0.44}]
chr11	GH11I000471	471031	474524	0.43	[{'connected_gene': 'LRRC56', 'score': 20.63}, {'connected_gene': 'RNH1', 'score': 17.72}, {'connected_gene': 'PTDSS2', 'score': 12.88}, {'connected_gene': 'SIGIRR', 'score': 9.35}, {'connected_gene': 'ENSG00000255237', 'score': 0.44}, {'connected_gene': 'GC11P000498', 'score': 0.34}]
chr11	GH11I000488	488101	492016	0.46	[{'connected_gene': 'LRRC56', 'score': 23.67}, {'connected_gene': 'RNH1', 'score': 19.69}, {'connected_gene': 'PTDSS2', 'score': 12.4}, {'connected_gene': 'GC11P000498', 'score': 0.44}, {'connected_gene': 'ENSG00000255237', 'score': 0.31}]
chr11	GH11I000492	492327	493615	0.49	[{'connected_gene': 'LRRC56', 'score': 19.54}, {'connected_gene': 'RNH1', 'score': 18.25}, {'connected_gene': 'TMEM80', 'score': 8.48}, {'connected_gene': 'PTDSS2', 'score': 6.8}, {'connected_gene': 'GC11P000498', 'score': 0.77}, {'connected_gene': 'ENSG00000255237', 'score': 0.31}]
chr11	GH11I000531	531291	531780	0.38	[{'connected_gene': 'LRRC56', 'score': 18.5}, {'connected_gene': 'RNH1', 'score': 18.11}, {'connected_gene': 'TMEM80', 'score': 11.9}, {'connected_gene': 'LOC101059906', 'score': 0.77}, {'connected_gene': 'HRAS', 'score': 0.44}]
chr11	GH11I000518	518174	519800	1.42	[{'connected_gene': 'LRRC56', 'score': 572.44}, {'connected_gene': 'PIR60912', 'score': 550.77}, {'connected_gene': 'RNH1', 'score': 18.4}, {'connected_gene': 'LOC105376507', 'score': 0.44}]
chr11	GH11I000478	478472	480362	0.2	[{'connected_gene': 'LRRC56', 'score': 19.64}, {'connected_gene': 'TMEM80', 'score': 8.25}, {'connected_gene': 'ENSG00000255237', 'score': 0.37}, {'connected_gene': 'GC11P000498', 'score': 0.37}, {'connected_gene': 'PTDSS2', 'score': 0.29}]
chr11	GH11I000303	303723	321507	2.73	[{'connected_gene': 'IFITM2', 'score': 593.63}, {'connected_gene': 'IFITM3', 'score': 582.18}, {'connected_gene': 'ENSG00000254910', 'score': 579.72}, {'connected_gene': 'IFITM1', 'score': 556.92}, {'connected_gene': 'PGGHG', 'score': 29.04}, {'connected_gene': 'TMEM80', 'score': 28.07}, {'connected_gene': 'PHRF1', 'score': 23.75}, {'connected_gene': 'ENSG00000270030', 'score': 21.6}, {'connected_gene': 'BET1L', 'score': 21.48}, {'connected_gene': 'RIC8A', 'score': 21.25}, {'connected_gene': 'SNORA52', 'score': 21.25}, {'connected_gene': 'ENSG00000251661', 'score': 19.39}, {'connected_gene': 'PIDD1', 'score': 14.45}, {'connected_gene': 'ENSG00000255026', 'score': 13.99}, {'connected_gene': 'NLRP6', 'score': 13.97}, {'connected_gene': 'SIGIRR', 'score': 11.74}, {'connected_gene': 'ENSG00000255237', 'score': 11.12}, {'connected_gene': 'ENSG00000254559', 'score': 10.78}, {'connected_gene': 'ODF3', 'score': 10.76}, {'connected_gene': 'SCGB1C1', 'score': 10.76}, {'connected_gene': 'TSPAN4', 'score': 10.19}, {'connected_gene': 'RPLP2', 'score': 10.08}, {'connected_gene': 'ENSG00000270972', 'score': 9.87}, {'connected_gene': 'LOC105376505', 'score': 8.29}, {'connected_gene': 'TALDO1', 'score': 3.05}, {'connected_gene': 'LRRC56', 'score': 1.98}, {'connected_gene': 'DEAF1', 'score': 1.75}, {'connected_gene': 'ANO9', 'score': 1.44}, {'connected_gene': 'SIRT3', 'score': 1.32}, {'connected_gene': 'GC11M000282', 'score': 0.44}, {'connected_gene': 'MRPS24P1', 'score': 0.44}, {'connected_gene': 'GC11P000259', 'score': 0.23}]
chr11	GH11I000514	514302	516144	0.58	[{'connected_gene': 'LOC105376507', 'score': 550.77}, {'connected_gene': 'RNH1', 'score': 18.43}, {'connected_gene': 'HRAS', 'score': 12.9}, {'connected_gene': 'LOC692247', 'score': 12.82}, {'connected_gene': 'RASSF7', 'score': 12.82}, {'connected_gene': 'LMNTD2', 'score': 12.81}, {'connected_gene': 'PTDSS2', 'score': 12.12}, {'connected_gene': 'SLC25A22', 'score': 11.01}, {'connected_gene': 'CEND1', 'score': 11.01}, {'connected_gene': 'PIDD1', 'score': 11.01}, {'connected_gene': 'RPLP2', 'score': 11.01}, {'connected_gene': 'ENSG00000255158', 'score': 10.57}, {'connected_gene': 'DRD4', 'score': 8.86}, {'connected_gene': 'LRRC56', 'score': 0.77}, {'connected_gene': 'GC11P000507', 'score': 0.44}]
chr11	GH11I000930	930878	938730	1.17	[{'connected_gene': 'LOC101927503', 'score': 6.78}, {'connected_gene': 'POLR2L', 'score': 5.84}, {'connected_gene': 'AP2A2', 'score': 5.42}, {'connected_gene': 'IRF7', 'score': 5.03}, {'connected_gene': 'LRRC56', 'score': 4.87}, {'connected_gene': 'GC11M000925', 'score': 0.44}, {'connected_gene': 'GC11P000950', 'score': 0.39}]
chr11	GH11I000528	528144	529768	0.74	[{'connected_gene': 'LOC101059906', 'score': 550.77}, {'connected_gene': 'LRRC56', 'score': 16.0}, {'connected_gene': 'HRAS', 'score': 14.82}]
chr11	GH11I000465	465058	466525	0.54	[{'connected_gene': 'ENSG00000255237', 'score': 550.77}, {'connected_gene': 'RNH1', 'score': 17.74}, {'connected_gene': 'LRRC56', 'score': 17.41}, {'connected_gene': 'PTDSS2', 'score': 10.72}, {'connected_gene': 'DRD4', 'score': 8.02}, {'connected_gene': 'GC11P000498', 'score': 0.29}]
chr11	GH11I000456	456154	457624	0.94	[{'connected_gene': 'GC11M000452', 'score': 550.77}, {'connected_gene': 'LRRC56', 'score': 6.21}, {'connected_gene': 'ENSG00000255237', 'score': 0.44}, {'connected_gene': 'PTDSS2', 'score': 0.44}]
chr11	GH11I000566	566841	570090	1.43	[{'connected_gene': 'GC11M000576', 'score': 550.77}, {'connected_gene': 'GC11M000572', 'score': 550.77}, {'connected_gene': 'GC11M000569', 'score': 550.77}, {'connected_gene': 'MIR210HG', 'score': 550.77}, {'connected_gene': 'MIR210', 'score': 550.77}, {'connected_gene': 'HRAS', 'score': 12.63}, {'connected_gene': 'TMEM80', 'score': 11.72}, {'connected_gene': 'LRRC56', 'score': 6.2}, {'connected_gene': 'PHRF1', 'score': 5.47}, {'connected_gene': 'ENSG00000270105', 'score': 4.69}, {'connected_gene': 'GC11M000578', 'score': 0.77}]