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
ENST00000271638	[[152004981, 152005299], [152006123, 152006276], [152009388, 152009511]]	[[152005137, 152005299], [152006123, 152006276], [152009388, 152009391]]
ENST00000478109	[[152004981, 152005299], [152006123, 152006276], [152020297, 152020383]]	None
NM_005620	[[152004981, 152005299], [152006123, 152006276], [152009388, 152009511]]	[[152005137, 152005299], [152006123, 152006276], [152009388, 152009391]]

Promoter

Chrom	Start	End	Description
chr1	152006179	152006217	CAGE_peak_3_at_S100A11_5end
chr1	152006234	152006259	CAGE_peak_4_at_S100A11_5end
chr1	152009431	152009457	CAGE_peak_2_at_S100A11_5end
chr1	152009460	152009498	CAGE_peak_1_at_S100A11_5end
chr1	152020505	152020534	CAGE_peak_5_at_S100A11_5end
chr1	152020547	152020570	CAGE_peak_6_at_S100A11_5end
chr1	152020602	152020614	CAGE_peak_9_at_S100A11_5end
chr1	152020637	152020650	CAGE_peak_7_at_S100A11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I152070	152070976	152071834	0.79	[{'connected_gene': 'S100A11', 'score': 12.48}, {'connected_gene': 'TCHH', 'score': 11.67}, {'connected_gene': 'ENSG00000226716', 'score': 11.64}, {'connected_gene': 'PUDPP2', 'score': 11.54}, {'connected_gene': 'FLG', 'score': 9.77}, {'connected_gene': 'SPTLC1P4', 'score': 0.44}, {'connected_gene': 'LOC101927949', 'score': 0.34}]
chr1	GH01I152032	152032784	152039223	2.56	[{'connected_gene': 'S100A11', 'score': 562.37}, {'connected_gene': 'FLG-AS1', 'score': 19.01}, {'connected_gene': 'PI4KB', 'score': 13.49}, {'connected_gene': 'RPS10P6', 'score': 11.81}, {'connected_gene': 'THEM4', 'score': 11.61}, {'connected_gene': 'ZNF687', 'score': 11.53}, {'connected_gene': 'PIP5K1A', 'score': 11.29}, {'connected_gene': 'MRPL9', 'score': 10.35}, {'connected_gene': 'GABPB2', 'score': 10.23}, {'connected_gene': 'PSMB4', 'score': 9.89}, {'connected_gene': 'RN7SL444P', 'score': 9.67}, {'connected_gene': 'SNX27', 'score': 3.21}, {'connected_gene': 'LOC105371442', 'score': 0.44}, {'connected_gene': 'ENSG00000229021', 'score': 0.26}]
chr1	GH01I152039	152039940	152040255	0.58	[{'connected_gene': 'S100A11', 'score': 9.77}, {'connected_gene': 'LOC105371442', 'score': 0.39}, {'connected_gene': 'ENSG00000229021', 'score': 0.25}]
chr1	GH01I152045	152045329	152051879	2.29	[{'connected_gene': 'S100A11', 'score': 556.34}, {'connected_gene': 'LOC101927949', 'score': 550.77}, {'connected_gene': 'PI4KB', 'score': 27.19}, {'connected_gene': 'ZNF687', 'score': 20.37}, {'connected_gene': 'FLG-AS1', 'score': 15.98}, {'connected_gene': 'GABPB2', 'score': 12.33}, {'connected_gene': 'PIP5K1A', 'score': 11.71}, {'connected_gene': 'MRPL9', 'score': 10.49}, {'connected_gene': 'ENSG00000229021', 'score': 10.41}, {'connected_gene': 'RN7SL444P', 'score': 10.15}, {'connected_gene': 'PSMB4', 'score': 9.99}, {'connected_gene': 'S100A10', 'score': 6.29}, {'connected_gene': 'TDRKH', 'score': 3.98}, {'connected_gene': 'SNX27', 'score': 1.11}]
chr1	GH01I151969	151969509	151969633	0.66	[{'connected_gene': 'S100A10', 'score': 14.49}, {'connected_gene': 'ENSG00000229021', 'score': 13.37}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'S100A11', 'score': 9.82}, {'connected_gene': 'CGN', 'score': 9.54}, {'connected_gene': 'ENSG00000252840', 'score': 9.54}, {'connected_gene': 'LOC105371441', 'score': 0.37}, {'connected_gene': 'KRT8P28', 'score': 0.37}]
chr1	GH01I152459	152459582	152461024	0.95	[{'connected_gene': 'CRCT1', 'score': 10.36}, {'connected_gene': 'LCE5A', 'score': 10.27}, {'connected_gene': 'S100A11', 'score': 10.06}, {'connected_gene': 'RPTN', 'score': 9.31}, {'connected_gene': 'CRNN', 'score': 6.08}, {'connected_gene': 'PIR42758', 'score': 0.28}]
chr1	GH01I152461	152461685	152461834	0.66	[{'connected_gene': 'CRCT1', 'score': 10.36}, {'connected_gene': 'LCE5A', 'score': 10.29}, {'connected_gene': 'S100A11', 'score': 10.06}, {'connected_gene': 'RPTN', 'score': 9.31}, {'connected_gene': 'PIR42758', 'score': 0.26}]
chr1	GH01I152143	152143715	152143898	0.34	[{'connected_gene': 'HRNR', 'score': 16.95}, {'connected_gene': 'ENSG00000226716', 'score': 12.27}, {'connected_gene': 'TCHH', 'score': 12.24}, {'connected_gene': 'PUDPP2', 'score': 12.16}, {'connected_gene': 'S100A11', 'score': 10.67}, {'connected_gene': 'TCHHL1', 'score': 10.3}, {'connected_gene': 'ENSG00000229021', 'score': 8.03}, {'connected_gene': 'LCE3A', 'score': 1.29}, {'connected_gene': 'RPTN', 'score': 0.37}]
chr1	GH01I152446	152446218	152451632	0.38	[{'connected_gene': 'FLG', 'score': 17.39}, {'connected_gene': 'S100A11', 'score': 14.89}, {'connected_gene': 'CRNN', 'score': 13.2}, {'connected_gene': 'FLG2', 'score': 10.28}, {'connected_gene': 'HRNR', 'score': 10.1}, {'connected_gene': 'FLG-AS1', 'score': 5.23}, {'connected_gene': 'PIR42758', 'score': 0.31}, {'connected_gene': 'LCE5A', 'score': 0.21}]
chr1	GH01I151983	151983705	151985995	0.83	[{'connected_gene': 'THEM4', 'score': 29.59}, {'connected_gene': 'ENSG00000229021', 'score': 20.32}, {'connected_gene': 'S100A11', 'score': 10.1}, {'connected_gene': 'THEM5', 'score': 9.95}, {'connected_gene': 'LOC105371441', 'score': 0.77}, {'connected_gene': 'S100A10', 'score': 0.44}, {'connected_gene': 'KRT8P28', 'score': 0.29}]
chr1	GH01I152043	152043496	152045052	0.43	[{'connected_gene': 'THEM4', 'score': 4.97}, {'connected_gene': 'S100A11', 'score': 0.77}, {'connected_gene': 'LOC105371442', 'score': 0.37}]
chr1	GH01I152013	152013745	152013894	0.68	[{'connected_gene': 'THEM4', 'score': 10.28}, {'connected_gene': 'THEM5', 'score': 10.24}, {'connected_gene': 'S100A11', 'score': 10.01}, {'connected_gene': 'NBPF18P', 'score': 0.77}, {'connected_gene': 'ENSG00000229021', 'score': 0.37}]
chr1	GH01I151974	151974640	151978363	1.11	[{'connected_gene': 'THEM4', 'score': 22.88}, {'connected_gene': 'THEM5', 'score': 10.34}, {'connected_gene': 'LOC100132111', 'score': 10.02}, {'connected_gene': 'C2CD4D', 'score': 10.02}, {'connected_gene': 'ENSG00000201134', 'score': 10.02}, {'connected_gene': 'S100A11', 'score': 9.92}, {'connected_gene': 'ENSG00000252840', 'score': 9.54}, {'connected_gene': 'CGN', 'score': 9.54}, {'connected_gene': 'LOC105371441', 'score': 0.39}, {'connected_gene': 'KRT8P28', 'score': 0.31}]
chr1	GH01I152031	152031514	152032680	0.43	[{'connected_gene': 'THEM4', 'score': 9.94}, {'connected_gene': 'TDRKH', 'score': 5.19}, {'connected_gene': 'LOC105371442', 'score': 0.77}, {'connected_gene': 'S100A11', 'score': 0.37}, {'connected_gene': 'ENSG00000229021', 'score': 0.28}]
chr1	GH01I152026	152026331	152028011	0.38	[{'connected_gene': 'LOC105371442', 'score': 550.77}, {'connected_gene': 'S100A11', 'score': 18.06}, {'connected_gene': 'ENSG00000229021', 'score': 10.93}, {'connected_gene': 'S100A10', 'score': 10.93}, {'connected_gene': 'THEM4', 'score': 10.26}, {'connected_gene': 'RPTN', 'score': 10.03}, {'connected_gene': 'LINGO4', 'score': 9.03}, {'connected_gene': 'TDRKH', 'score': 5.42}, {'connected_gene': 'LOC100132111', 'score': 4.29}, {'connected_gene': 'PIR45655', 'score': 0.77}]
chr1	GH01I152028	152028514	152030346	1.4	[{'connected_gene': 'LOC105371442', 'score': 550.77}, {'connected_gene': 'S100A10', 'score': 13.58}, {'connected_gene': 'ENSG00000229021', 'score': 11.09}, {'connected_gene': 'S100A11', 'score': 7.35}]
chr1	GH01I152022	152022473	152025631	0.58	[{'connected_gene': 'PIR45655', 'score': 550.77}, {'connected_gene': 'ENSG00000229021', 'score': 17.74}, {'connected_gene': 'S100A11', 'score': 11.23}, {'connected_gene': 'THEM4', 'score': 10.27}, {'connected_gene': 'RPTN', 'score': 10.03}, {'connected_gene': 'HRNR', 'score': 6.49}, {'connected_gene': 'LOC100132111', 'score': 4.32}, {'connected_gene': 'LOC105371442', 'score': 0.77}, {'connected_gene': 'ENSG00000240667', 'score': 0.44}, {'connected_gene': 'NBPF18P', 'score': 0.44}]
chr1	GH01I151968	151968085	151968234	1.03	[{'connected_gene': 'ENSG00000229021', 'score': 13.34}, {'connected_gene': 'S100A10', 'score': 13.34}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'S100A11', 'score': 9.82}, {'connected_gene': 'CGN', 'score': 9.54}, {'connected_gene': 'ENSG00000252840', 'score': 9.54}, {'connected_gene': 'LOC105371441', 'score': 0.37}, {'connected_gene': 'KRT8P28', 'score': 0.37}]
chr1	GH01I151972	151970845	151970994	0.8	[{'connected_gene': 'ENSG00000229021', 'score': 13.37}, {'connected_gene': 'S100A10', 'score': 13.37}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'S100A11', 'score': 9.82}, {'connected_gene': 'CGN', 'score': 9.54}, {'connected_gene': 'ENSG00000252840', 'score': 9.54}, {'connected_gene': 'LOC105371441', 'score': 0.37}, {'connected_gene': 'KRT8P28', 'score': 0.37}]
chr1	GH01I151970	151969025	151969400	0.94	[{'connected_gene': 'ENSG00000229021', 'score': 13.34}, {'connected_gene': 'S100A10', 'score': 13.34}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'S100A11', 'score': 9.82}, {'connected_gene': 'CGN', 'score': 9.54}, {'connected_gene': 'ENSG00000252840', 'score': 9.54}, {'connected_gene': 'LOC105371441', 'score': 0.37}, {'connected_gene': 'KRT8P28', 'score': 0.37}]
chr1	GH01I151986	151986391	152002574	2.84	[{'connected_gene': 'ENSG00000229021', 'score': 570.66}, {'connected_gene': 'S100A10', 'score': 556.65}, {'connected_gene': 'THEM4', 'score': 30.06}, {'connected_gene': 'S100A11', 'score': 11.77}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'FLG-AS1', 'score': 4.3}, {'connected_gene': 'MLLT11', 'score': 3.85}, {'connected_gene': 'LOC105371441', 'score': 0.44}]
chr1	GH01I151971	151971550	151974361	1.61	[{'connected_gene': 'ENSG00000229021', 'score': 29.04}, {'connected_gene': 'THEM4', 'score': 19.04}, {'connected_gene': 'S100A10', 'score': 16.68}, {'connected_gene': 'S100A11', 'score': 11.22}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'ENSG00000252840', 'score': 9.54}, {'connected_gene': 'CGN', 'score': 9.54}, {'connected_gene': 'LINGO4', 'score': 4.45}, {'connected_gene': 'TUFT1', 'score': 1.47}, {'connected_gene': 'LOC105371441', 'score': 0.39}, {'connected_gene': 'KRT8P28', 'score': 0.34}]
chr1	GH01I152002	152002899	152005037	0.54	[{'connected_gene': 'ENSG00000229021', 'score': 15.95}, {'connected_gene': 'THEM4', 'score': 10.7}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'S100A11', 'score': 10.05}, {'connected_gene': 'ENSG00000252840', 'score': 9.58}, {'connected_gene': 'CGN', 'score': 9.58}, {'connected_gene': 'S100A10', 'score': 7.05}, {'connected_gene': 'NBPF18P', 'score': 0.39}, {'connected_gene': 'LOC105371441', 'score': 0.37}]
chr1	GH01I151294	151294375	151295989	0.63	[{'connected_gene': 'ENSG00000224645', 'score': 11.19}, {'connected_gene': 'GBAT2', 'score': 11.17}, {'connected_gene': 'RFX5', 'score': 11.17}, {'connected_gene': 'PSMB4', 'score': 10.41}, {'connected_gene': 'SELENBP1', 'score': 10.38}, {'connected_gene': 'S100A11', 'score': 4.8}, {'connected_gene': 'RN7SL444P', 'score': 0.44}, {'connected_gene': 'PIR40750', 'score': 0.44}, {'connected_gene': 'GC01P151286', 'score': 0.44}, {'connected_gene': 'PI4KB', 'score': 0.29}]