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
ENST00000496817	[[153507074, 153507306], [153507677, 153507851], [153508424, 153508691]]	[[153507171, 153507306], [153507677, 153507815]]
ENST00000368719	[[153507074, 153507306], [153507677, 153507836], [153508424, 153508698]]	[[153507171, 153507306], [153507677, 153507815]]
ENST00000368720	[[153507074, 153507306], [153507677, 153507836], [153508264, 153508409], [153508583, 153508720]]	[[153507171, 153507306], [153507677, 153507815]]
ENST00000462776	[[153507189, 153507306], [153507677, 153507836], [153508264, 153508467]]	[[153507189, 153507306], [153507677, 153507815]]
ENST00000462951	[[153507568, 153507836], [153508424, 153508467]]	None
NM_014624	[[153507075, 153507306], [153507677, 153507836], [153508424, 153508717]]	[[153507171, 153507306], [153507677, 153507815]]

Promoter

Chrom	Start	End	Description
chr1	153507802	153507815	CAGE_peak_3_at_S100A6_5end
chr1	153508460	153508476	CAGE_peak_1_at_S100A6_5end
chr1	153508482	153508494	CAGE_peak_2_at_S100A6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I153531	153531011	153539249	2.64	[{'connected_gene': 'S100A6', 'score': 550.77}, {'connected_gene': 'ENSG00000238279', 'score': 550.77}, {'connected_gene': 'PIR41635', 'score': 550.77}, {'connected_gene': 'S100A3', 'score': 13.82}, {'connected_gene': 'INTS3', 'score': 13.7}, {'connected_gene': 'CHTOP', 'score': 12.72}, {'connected_gene': 'UBAP2L', 'score': 11.05}, {'connected_gene': 'ENSG00000272654', 'score': 11.04}, {'connected_gene': 'RN7SL44P', 'score': 10.74}, {'connected_gene': 'CREB3L4', 'score': 10.0}, {'connected_gene': 'S100A7L2', 'score': 5.26}, {'connected_gene': 'PGLYRP3', 'score': 2.45}, {'connected_gene': 'SLC39A1', 'score': 1.24}, {'connected_gene': 'S100A5', 'score': 0.44}]
chr1	GH01I153514	153514601	153516973	1.33	[{'connected_gene': 'S100A3', 'score': 10.07}, {'connected_gene': 'RN7SL44P', 'score': 8.43}, {'connected_gene': 'S100A2', 'score': 5.42}, {'connected_gene': 'S100A14', 'score': 4.52}, {'connected_gene': 'PGLYRP4', 'score': 2.0}, {'connected_gene': 'S100A6', 'score': 1.53}, {'connected_gene': 'S100A16', 'score': 1.49}, {'connected_gene': 'GC01M153500', 'score': 0.37}, {'connected_gene': 'ENSG00000238279', 'score': 0.37}]
chr1	GH01I153561	153561172	153569950	2.27	[{'connected_gene': 'S100A2', 'score': 552.94}, {'connected_gene': 'S100A6', 'score': 15.88}, {'connected_gene': 'S100A3', 'score': 15.05}, {'connected_gene': 'S100A5', 'score': 12.92}, {'connected_gene': 'ENSG00000238279', 'score': 12.87}, {'connected_gene': 'S100A16', 'score': 12.57}, {'connected_gene': 'S100A13', 'score': 12.27}, {'connected_gene': 'S100A14', 'score': 12.24}, {'connected_gene': 'SNAPIN', 'score': 10.36}, {'connected_gene': 'S100A1', 'score': 10.23}, {'connected_gene': 'CHTOP', 'score': 10.23}, {'connected_gene': 'NPR1', 'score': 9.68}, {'connected_gene': 'S100A9', 'score': 9.64}, {'connected_gene': 'PGLYRP4', 'score': 9.37}, {'connected_gene': 'INTS3', 'score': 9.33}, {'connected_gene': 'ENSG00000233222', 'score': 9.32}, {'connected_gene': 'ENSG00000243613', 'score': 9.32}, {'connected_gene': 'RNU6-160P', 'score': 9.16}, {'connected_gene': 'S100A4', 'score': 6.77}, {'connected_gene': 'S100A7L2', 'score': 2.46}, {'connected_gene': 'PGLYRP3', 'score': 1.35}]
chr1	GH01I153606	153606662	153618256	2.74	[{'connected_gene': 'S100A16', 'score': 556.78}, {'connected_gene': 'S100A14', 'score': 553.15}, {'connected_gene': 'S100A1', 'score': 34.99}, {'connected_gene': 'SNAPIN', 'score': 10.72}, {'connected_gene': 'ILF2', 'score': 10.44}, {'connected_gene': 'ENSG00000233222', 'score': 9.39}, {'connected_gene': 'ENSG00000243613', 'score': 9.39}, {'connected_gene': 'INTS3', 'score': 9.23}, {'connected_gene': 'S100A13', 'score': 4.77}, {'connected_gene': 'ENSG00000272030', 'score': 4.4}, {'connected_gene': 'S100A6', 'score': 2.92}, {'connected_gene': 'S100A2', 'score': 2.76}, {'connected_gene': 'S100A7L2', 'score': 1.7}, {'connected_gene': 'PGLYRP4', 'score': 1.66}, {'connected_gene': 'PGLYRP3', 'score': 1.55}, {'connected_gene': 'S100A7A', 'score': 1.27}, {'connected_gene': 'GC01P153610', 'score': 0.44}, {'connected_gene': 'GC01M153608', 'score': 0.44}, {'connected_gene': 'GC01M153607', 'score': 0.44}]
chr1	GH01I154000	154000965	154002554	0.58	[{'connected_gene': 'CREB3L4', 'score': 10.87}, {'connected_gene': 'CRTC2', 'score': 10.41}, {'connected_gene': 'DENND4B', 'score': 9.8}, {'connected_gene': 'NPR1', 'score': 9.77}, {'connected_gene': 'ENSG00000243613', 'score': 9.74}, {'connected_gene': 'ENSG00000233222', 'score': 9.74}, {'connected_gene': 'UBAP2L', 'score': 9.64}, {'connected_gene': 'SNORA58B', 'score': 9.63}, {'connected_gene': 'C1orf189', 'score': 9.43}, {'connected_gene': 'S100A6', 'score': 4.21}, {'connected_gene': 'RPL34P5', 'score': 0.44}, {'connected_gene': 'RNU6-179P', 'score': 0.28}, {'connected_gene': 'NUP210L', 'score': 0.1}]
chr1	GH01I153492	153492583	153494659	0.43	[{'connected_gene': 'RN7SL44P', 'score': 12.87}, {'connected_gene': 'ENSG00000238279', 'score': 11.66}, {'connected_gene': 'S100A6', 'score': 11.64}, {'connected_gene': 'S100A5', 'score': 11.63}, {'connected_gene': 'S100A3', 'score': 11.6}, {'connected_gene': 'S100A4', 'score': 11.6}, {'connected_gene': 'PGLYRP4', 'score': 11.21}, {'connected_gene': 'S100A9', 'score': 10.8}, {'connected_gene': 'RNU6-160P', 'score': 10.35}, {'connected_gene': 'S100A1', 'score': 10.13}, {'connected_gene': 'S100A13', 'score': 10.13}, {'connected_gene': 'CHTOP', 'score': 10.13}, {'connected_gene': 'PGLYRP3', 'score': 9.78}, {'connected_gene': 'S100A16', 'score': 9.71}, {'connected_gene': 'S100A14', 'score': 9.71}, {'connected_gene': 'GC01M153500', 'score': 0.44}, {'connected_gene': 'S100A7', 'score': 0.29}]
chr1	GH01I153494	153494985	153495154	0.84	[{'connected_gene': 'ENSG00000238279', 'score': 11.66}, {'connected_gene': 'S100A6', 'score': 11.64}, {'connected_gene': 'S100A5', 'score': 11.63}, {'connected_gene': 'S100A3', 'score': 11.61}, {'connected_gene': 'S100A4', 'score': 11.6}, {'connected_gene': 'PGLYRP4', 'score': 11.19}, {'connected_gene': 'S100A9', 'score': 10.37}, {'connected_gene': 'RNU6-160P', 'score': 10.35}, {'connected_gene': 'S100A16', 'score': 9.71}, {'connected_gene': 'S100A14', 'score': 9.71}, {'connected_gene': 'GC01M153500', 'score': 0.44}, {'connected_gene': 'RN7SL44P', 'score': 0.44}, {'connected_gene': 'S100A7', 'score': 0.29}]