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
ENST00000372188	[[82167584, 82167712], [82180221, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82191864]]	[[82180223, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82191855]]
ENST00000372187	[[82168248, 82168399], [82180221, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82192753]]	[[82180223, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82191855]]
ENST00000372185	[[82168249, 82168399], [82180238, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82192753]]	[[82180256, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82191855]]
ENST00000372181	[[82179753, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82192753]]	[[82180223, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82191855]]
NM_001243779	[[82167584, 82167712], [82180221, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82192753]]	[[82180223, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82191855]]
NM_001243781	[[82168241, 82168399], [82180238, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82192753]]	[[82180256, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82191855]]
NM_032333	[[82168241, 82168399], [82180221, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82192753]]	[[82180223, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82191855]]
NM_001243780	[[82168241, 82168399], [82179755, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82192753]]	[[82180223, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82191855]]
NM_001243782	[[82173574, 82173632], [82180238, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82192753]]	[[82173629, 82173632], [82180238, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82191855]]
NM_001243778	[[82173574, 82173632], [82180221, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82192753]]	[[82180223, 82180401], [82182172, 82182264], [82185621, 82185762], [82187087, 82187252], [82191741, 82191855]]

Promoter

Chrom	Start	End	Description
chr10	82168240	82168322	CAGE_peak_1_at_FAM213A_5end
chr10	82168335	82168379	CAGE_peak_3_at_FAM213A_5end
chr10	82173302	82173313	CAGE_peak_7_at_FAM213A_5end
chr10	82173423	82173439	CAGE_peak_5_at_FAM213A_5end
chr10	82173440	82173452	CAGE_peak_11_at_FAM213A_5end
chr10	82173551	82173562	CAGE_peak_4_at_FAM213A_5end
chr10	82173573	82173606	CAGE_peak_2_at_FAM213A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I079649	79649802	79650600	0.2	[{'connected_gene': 'MBL1P', 'score': 14.69}, {'connected_gene': 'FAM213A', 'score': 7.05}, {'connected_gene': 'NUTM2E', 'score': 6.88}, {'connected_gene': 'SFTPD-AS1', 'score': 4.38}, {'connected_gene': 'LOC101929506', 'score': 0.39}, {'connected_gene': 'LOC105378385', 'score': 0.37}]
chr10	GH10I080387	80387842	80389200	0.78	[{'connected_gene': 'DYDC2', 'score': 16.4}, {'connected_gene': 'MBL1P', 'score': 8.04}, {'connected_gene': 'FAM213A', 'score': 0.37}, {'connected_gene': 'DYDC1', 'score': 0.29}]
chr10	GH10I080391	80391718	80392935	0.95	[{'connected_gene': 'DYDC2', 'score': 24.52}, {'connected_gene': 'DYDC1', 'score': 11.58}, {'connected_gene': 'FAM213A', 'score': 10.64}, {'connected_gene': 'MBL1P', 'score': 8.4}]
chr10	GH10I080356	80356705	80357936	1.63	[{'connected_gene': 'DYDC2', 'score': 567.47}, {'connected_gene': 'DYDC1', 'score': 550.77}, {'connected_gene': 'FAM213A', 'score': 19.5}]
chr10	GH10I080399	80399737	80401128	0.31	[{'connected_gene': 'DYDC2', 'score': 23.53}, {'connected_gene': 'DYDC1', 'score': 10.57}, {'connected_gene': 'TSPAN14', 'score': 10.38}, {'connected_gene': 'ANXA11', 'score': 9.23}, {'connected_gene': 'LINC00857', 'score': 9.23}, {'connected_gene': 'LOC101929574', 'score': 5.51}, {'connected_gene': 'FAM213A', 'score': 0.44}]
chr10	GH10I080406	80406380	80417111	2.65	[{'connected_gene': 'FAM213A', 'score': 569.7}, {'connected_gene': 'DYDC2', 'score': 18.4}, {'connected_gene': 'LOC642361', 'score': 12.05}, {'connected_gene': 'DYDC1', 'score': 10.19}, {'connected_gene': 'MBL1P', 'score': 7.51}, {'connected_gene': 'PLAC9', 'score': 6.88}, {'connected_gene': 'ANXA11', 'score': 6.45}, {'connected_gene': 'PIR57963', 'score': 0.34}]
chr10	GH10I080447	80447572	80448965	0.46	[{'connected_gene': 'FAM213A', 'score': 12.12}, {'connected_gene': 'TSPAN14', 'score': 8.47}, {'connected_gene': 'MBL1P', 'score': 5.32}, {'connected_gene': 'PIR57963', 'score': 0.39}]
chr10	GH10I080442	80442302	80445200	1.32	[{'connected_gene': 'FAM213A', 'score': 16.3}, {'connected_gene': 'TSPAN14', 'score': 8.49}, {'connected_gene': 'ANXA11', 'score': 6.51}, {'connected_gene': 'PIR57963', 'score': 0.44}]
chr10	GH10I080431	80431248	80432318	0.38	[{'connected_gene': 'FAM213A', 'score': 29.68}, {'connected_gene': 'TSPAN14', 'score': 12.66}, {'connected_gene': 'DYDC1', 'score': 10.14}, {'connected_gene': 'DYDC2', 'score': 10.11}, {'connected_gene': 'PLAC9', 'score': 6.73}, {'connected_gene': 'ANXA11', 'score': 6.38}, {'connected_gene': 'PIR57963', 'score': 0.77}]
chr10	GH10I080383	80383673	80384759	0.2	[{'connected_gene': 'FAM213A', 'score': 15.59}, {'connected_gene': 'DYDC1', 'score': 0.31}]
chr10	GH10I080421	80421805	80421954	0.74	[{'connected_gene': 'FAM213A', 'score': 0.39}, {'connected_gene': 'PIR57963', 'score': 0.39}]
chr10	GH10I080428	80428860	80430821	0.93	[{'connected_gene': 'TSPAN14', 'score': 18.26}, {'connected_gene': 'FAM213A', 'score': 18.07}, {'connected_gene': 'DYDC1', 'score': 10.36}, {'connected_gene': 'DYDC2', 'score': 10.34}, {'connected_gene': 'ENSG00000235858', 'score': 7.08}, {'connected_gene': 'ANXA11', 'score': 6.38}, {'connected_gene': 'LOC101929574', 'score': 4.97}, {'connected_gene': 'PIR57963', 'score': 0.44}]
chr10	GH10I080492	80492802	80507841	1.81	[{'connected_gene': 'TSPAN14', 'score': 22.96}, {'connected_gene': 'FAM213A', 'score': 11.39}, {'connected_gene': 'DYDC1', 'score': 10.0}, {'connected_gene': 'DYDC2', 'score': 10.0}, {'connected_gene': 'LOC101929574', 'score': 6.88}, {'connected_gene': 'ANXA11', 'score': 6.11}, {'connected_gene': 'PIR41876', 'score': 0.77}]
chr10	GH10I080483	80483122	80492600	1.64	[{'connected_gene': 'TSPAN14', 'score': 21.98}, {'connected_gene': 'FAM213A', 'score': 11.41}, {'connected_gene': 'DYDC1', 'score': 9.49}, {'connected_gene': 'DYDC2', 'score': 9.49}, {'connected_gene': 'LOC101929574', 'score': 7.37}, {'connected_gene': 'ANXA11', 'score': 6.14}, {'connected_gene': 'PIR41876', 'score': 0.37}]
chr10	GH10I080508	80508396	80512196	0.82	[{'connected_gene': 'TSPAN14', 'score': 21.57}, {'connected_gene': 'FAM213A', 'score': 11.02}, {'connected_gene': 'DYDC1', 'score': 9.9}, {'connected_gene': 'DYDC2', 'score': 9.9}, {'connected_gene': 'PIR41876', 'score': 0.44}, {'connected_gene': 'PIR63069', 'score': 0.34}]
chr10	GH10I080453	80453020	80475714	2.7	[{'connected_gene': 'TSPAN14', 'score': 561.06}, {'connected_gene': 'FAM213A', 'score': 27.16}, {'connected_gene': 'LOC101929574', 'score': 9.63}, {'connected_gene': 'DYDC1', 'score': 9.6}, {'connected_gene': 'DYDC2', 'score': 9.58}, {'connected_gene': 'ANXA11', 'score': 7.17}, {'connected_gene': 'PLAC9', 'score': 5.81}, {'connected_gene': 'MBL1P', 'score': 5.1}, {'connected_gene': 'SH2D4B', 'score': 2.37}, {'connected_gene': 'PIR41876', 'score': 0.26}]
chr10	GH10I080265	80265719	80266994	0.74	[{'connected_gene': 'MAT1A', 'score': 28.47}, {'connected_gene': 'FAM213A', 'score': 10.14}, {'connected_gene': 'DYDC2', 'score': 10.02}, {'connected_gene': 'DYDC1', 'score': 9.99}, {'connected_gene': 'ENSG00000235858', 'score': 5.66}, {'connected_gene': 'PIR41962', 'score': 0.44}, {'connected_gene': 'PIR35729', 'score': 0.39}, {'connected_gene': 'GC10P081682', 'score': 0.39}]
chr10	GH10I080378	80378365	80378600	0.94	[{'connected_gene': 'DYDC1', 'score': 11.33}, {'connected_gene': 'DYDC2', 'score': 11.28}, {'connected_gene': 'FAM213A', 'score': 11.25}, {'connected_gene': 'TSPAN14', 'score': 10.25}]
chr10	GH10I080420	80420509	80421512	0.51	[{'connected_gene': 'DYDC1', 'score': 11.12}, {'connected_gene': 'DYDC2', 'score': 11.09}, {'connected_gene': 'ANXA11', 'score': 6.38}, {'connected_gene': 'FAM213A', 'score': 0.39}, {'connected_gene': 'PIR57963', 'score': 0.39}]
chr10	GH10I080551	80551649	80552744	0.63	[{'connected_gene': 'LOC101929574', 'score': 12.39}, {'connected_gene': 'FAM213A', 'score': 10.31}, {'connected_gene': 'ENSG00000235858', 'score': 5.8}, {'connected_gene': 'SH2D4B', 'score': 0.39}, {'connected_gene': 'LOC105378387', 'score': 0.15}]
chr10	GH10I080512	80512977	80522023	0.54	[{'connected_gene': 'LOC101929574', 'score': 11.96}, {'connected_gene': 'FAM213A', 'score': 10.49}, {'connected_gene': 'DYDC1', 'score': 9.32}, {'connected_gene': 'DYDC2', 'score': 9.32}, {'connected_gene': 'TSPAN14', 'score': 6.85}, {'connected_gene': 'ANXA11', 'score': 6.19}, {'connected_gene': 'MBL1P', 'score': 4.75}, {'connected_gene': 'ENSG00000234382', 'score': 4.69}, {'connected_gene': 'PIR41876', 'score': 0.39}, {'connected_gene': 'PIR63069', 'score': 0.39}]
chr10	GH10I080435	80435670	80438034	0.69	[{'connected_gene': 'PIR57963', 'score': 550.77}, {'connected_gene': 'FAM213A', 'score': 24.97}, {'connected_gene': 'DYDC1', 'score': 10.12}, {'connected_gene': 'DYDC2', 'score': 10.11}, {'connected_gene': 'ANXA11', 'score': 6.37}, {'connected_gene': 'TSPAN14', 'score': 0.37}]