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
NM_001291324	[[79373520, 79373716], [79394661, 79394670], [79405394, 79405518], [79408856, 79410590], [79410834, 79410943], [79411406, 79411594], [79411693, 79411852], [79412040, 79412204], [79412379, 79412707], [79413763, 79413856], [79414061, 79414874], [79418693, 79418896], [79418996, 79419133], [79419748, 79419877], [79422292, 79422416], [79423322, 79423611], [79424435, 79424618], [79425190, 79425492], [79425646, 79425751], [79425838, 79425995], [79426079, 79426194], [79426278, 79426354], [79426521, 79426630], [79427302, 79427422], [79427555, 79427732], [79427891, 79429072], [79429765, 79430002], [79430636, 79433358]]	[[79373539, 79373716], [79394661, 79394670], [79405394, 79405518], [79408856, 79410590], [79410834, 79410943], [79411406, 79411594], [79411693, 79411852], [79412040, 79412204], [79412379, 79412707], [79413763, 79413856], [79414061, 79414874], [79418693, 79418896], [79418996, 79419133], [79419748, 79419877], [79422292, 79422416], [79423322, 79423611], [79424435, 79424618], [79425190, 79425492], [79425646, 79425751], [79425838, 79425995], [79426079, 79426194], [79426278, 79426354], [79426521, 79426630], [79427302, 79427422], [79427555, 79427732], [79427891, 79429072], [79429765, 79430002], [79430636, 79430843]]

Promoter

Chrom	Start	End	Description
chr17	79373129	79373161	CAGE_peak_3_at_BAHCC1_5end
chr17	79373167	79373187	CAGE_peak_2_at_BAHCC1_5end
chr17	79373307	79373337	CAGE_peak_1_at_BAHCC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I081416	81416740	81424329	1.55	[{'connected_gene': 'HGS', 'score': 11.8}, {'connected_gene': 'MAFG', 'score': 9.54}, {'connected_gene': 'FSCN2', 'score': 6.28}, {'connected_gene': 'CCDC137', 'score': 4.47}, {'connected_gene': 'NPLOC4', 'score': 2.61}, {'connected_gene': 'MIR4740', 'score': 0.37}, {'connected_gene': 'BAHCC1', 'score': 0.31}, {'connected_gene': 'GC17M081444', 'score': 0.31}]
chr17	GH17I081452	81452889	81463315	1.22	[{'connected_gene': 'FAAP100', 'score': 10.97}, {'connected_gene': 'OGFOD3', 'score': 10.87}, {'connected_gene': 'ENSG00000260563', 'score': 10.79}, {'connected_gene': 'FSCN2', 'score': 9.05}, {'connected_gene': 'HGS', 'score': 6.31}, {'connected_gene': 'ACTG1', 'score': 6.25}, {'connected_gene': 'TSPAN10', 'score': 4.82}, {'connected_gene': 'ENSG00000264548', 'score': 4.77}, {'connected_gene': 'ENSG00000263271', 'score': 0.77}, {'connected_gene': 'LOC105371926', 'score': 0.77}, {'connected_gene': 'BAHCC1', 'score': 0.21}]
chr17	GH17I081424	81424701	81424850	1.07	[{'connected_gene': 'OGFOD3', 'score': 66.37}, {'connected_gene': 'FAAP100', 'score': 57.09}, {'connected_gene': 'CEP131', 'score': 48.29}, {'connected_gene': 'ENSG00000262877', 'score': 42.76}, {'connected_gene': 'TEPSIN', 'score': 38.47}, {'connected_gene': 'ENSG00000265678', 'score': 32.3}, {'connected_gene': 'HEXDC', 'score': 30.92}, {'connected_gene': 'HGS', 'score': 29.7}, {'connected_gene': 'ENSG00000260563', 'score': 25.93}, {'connected_gene': 'ENSG00000260369', 'score': 25.35}, {'connected_gene': 'ENSG00000260011', 'score': 24.15}, {'connected_gene': 'ARL16', 'score': 22.63}, {'connected_gene': 'CCDC57', 'score': 20.92}, {'connected_gene': 'TSPAN10', 'score': 20.16}, {'connected_gene': 'CSNK1D', 'score': 20.15}, {'connected_gene': 'GPS1', 'score': 19.9}, {'connected_gene': 'OXLD1', 'score': 14.47}, {'connected_gene': 'ALYREF', 'score': 12.74}, {'connected_gene': 'CCDC137', 'score': 11.63}, {'connected_gene': 'DUS1L', 'score': 10.89}, {'connected_gene': 'CD7', 'score': 10.71}, {'connected_gene': 'SLC38A10', 'score': 10.7}, {'connected_gene': 'LOC105371925', 'score': 10.66}, {'connected_gene': 'LOC100130370', 'score': 10.66}, {'connected_gene': 'ENSG00000264548', 'score': 10.27}, {'connected_gene': 'MCRIP1', 'score': 10.01}, {'connected_gene': 'ENSG00000229848', 'score': 9.89}, {'connected_gene': 'RFNG', 'score': 9.71}, {'connected_gene': 'GC17M081444', 'score': 0.34}, {'connected_gene': 'MIR4740', 'score': 0.34}, {'connected_gene': 'BAHCC1', 'score': 0.31}]
chr17	GH17I081482	81482267	81485194	1.53	[{'connected_gene': 'ACTG1', 'score': 8.27}, {'connected_gene': 'FSCN2', 'score': 5.95}, {'connected_gene': 'TSPAN10', 'score': 5.34}, {'connected_gene': 'NPLOC4', 'score': 4.89}, {'connected_gene': 'AATK', 'score': 1.95}, {'connected_gene': 'BAHCC1', 'score': 1.74}, {'connected_gene': 'LINC01971', 'score': 0.77}, {'connected_gene': 'PIR46680', 'score': 0.31}, {'connected_gene': 'GC17M081518', 'score': 0.31}]
chr17	GH17I081384	81384889	81407318	2.9	[{'connected_gene': 'BAHCC1', 'score': 553.85}, {'connected_gene': 'ENSG00000279692', 'score': 550.77}, {'connected_gene': 'ENSG00000262877', 'score': 64.36}, {'connected_gene': 'CEP131', 'score': 38.72}, {'connected_gene': 'GPS1', 'score': 28.59}, {'connected_gene': 'HGS', 'score': 26.75}, {'connected_gene': 'ENSG00000260011', 'score': 25.34}, {'connected_gene': 'FAAP100', 'score': 25.14}, {'connected_gene': 'ENSG00000260369', 'score': 24.42}, {'connected_gene': 'ENSG00000265678', 'score': 22.9}, {'connected_gene': 'ARL16', 'score': 22.63}, {'connected_gene': 'CCDC57', 'score': 20.61}, {'connected_gene': 'RFNG', 'score': 18.81}, {'connected_gene': 'ENSG00000260563', 'score': 16.03}, {'connected_gene': 'TEPSIN', 'score': 15.05}, {'connected_gene': 'ENDOV', 'score': 13.64}, {'connected_gene': 'ALYREF', 'score': 13.42}, {'connected_gene': 'CSNK1D', 'score': 12.86}, {'connected_gene': 'TSPAN10', 'score': 12.34}, {'connected_gene': 'TMEM105', 'score': 12.24}, {'connected_gene': 'ASPSCR1', 'score': 11.08}, {'connected_gene': 'DUS1L', 'score': 10.87}, {'connected_gene': 'LOC100130370', 'score': 10.82}, {'connected_gene': 'CHMP6', 'score': 10.61}, {'connected_gene': 'SLC38A10', 'score': 10.53}, {'connected_gene': 'LINC01970', 'score': 10.33}, {'connected_gene': 'ENSG00000264548', 'score': 10.27}, {'connected_gene': 'ENSG00000264569', 'score': 9.82}, {'connected_gene': 'CENPX', 'score': 5.19}, {'connected_gene': 'CCDC137', 'score': 4.79}, {'connected_gene': 'PPP1R27', 'score': 4.62}, {'connected_gene': 'ARHGDIA', 'score': 1.35}, {'connected_gene': 'MIR4740', 'score': 0.77}, {'connected_gene': 'GC17M081387', 'score': 0.77}, {'connected_gene': 'GC17M081389', 'score': 0.44}, {'connected_gene': 'ENSG00000274833', 'score': 0.44}]
chr17	GH17I081481	81481064	81482104	1.65	[{'connected_gene': 'LINC01971', 'score': 550.77}, {'connected_gene': 'CHMP6', 'score': 13.88}, {'connected_gene': 'NPB', 'score': 4.89}, {'connected_gene': 'ENSG00000265678', 'score': 4.32}, {'connected_gene': 'AATK', 'score': 3.21}, {'connected_gene': 'BAHCC1', 'score': 2.99}, {'connected_gene': 'PIR46680', 'score': 0.31}, {'connected_gene': 'GC17M081518', 'score': 0.31}]
chr17	GH17I081409	81409261	81409390	0.99	[{'connected_gene': 'MIR4740', 'score': 0.44}, {'connected_gene': 'BAHCC1', 'score': 0.39}, {'connected_gene': 'GC17M081444', 'score': 0.26}]
chr17	GH17I081412	81412405	81413408	1.27	[{'connected_gene': 'MIR4740', 'score': 0.39}, {'connected_gene': 'BAHCC1', 'score': 0.37}, {'connected_gene': 'GC17M081444', 'score': 0.28}]
chr17	GH17I081415	81415200	81416154	0.56	[{'connected_gene': 'MIR4740', 'score': 0.39}, {'connected_gene': 'BAHCC1', 'score': 0.34}, {'connected_gene': 'GC17M081444', 'score': 0.29}]
chr17	GH17I081425	81425839	81425899	0.7	[{'connected_gene': 'ENSG00000262877', 'score': 24.38}, {'connected_gene': 'FAAP100', 'score': 15.43}, {'connected_gene': 'OGFOD3', 'score': 13.27}, {'connected_gene': 'ENSG00000265678', 'score': 12.82}, {'connected_gene': 'ENSG00000260011', 'score': 12.06}, {'connected_gene': 'CSNK1D', 'score': 11.02}, {'connected_gene': 'CD7', 'score': 10.71}, {'connected_gene': 'LOC100130370', 'score': 10.66}, {'connected_gene': 'HGS', 'score': 10.34}, {'connected_gene': 'ENSG00000260369', 'score': 10.22}, {'connected_gene': 'CCDC57', 'score': 10.2}, {'connected_gene': 'TEPSIN', 'score': 9.85}, {'connected_gene': 'BAHCC1', 'score': 1.5}, {'connected_gene': 'GCGR', 'score': 1.28}, {'connected_gene': 'GC17M081444', 'score': 0.34}, {'connected_gene': 'MIR4740', 'score': 0.31}]
chr17	GH17I081336	81336563	81347323	2.12	[{'connected_gene': 'GC17M081340', 'score': 550.77}, {'connected_gene': 'GC17P081340', 'score': 550.77}, {'connected_gene': 'FAAP100', 'score': 33.45}, {'connected_gene': 'RFNG', 'score': 30.49}, {'connected_gene': 'TMEM105', 'score': 26.34}, {'connected_gene': 'DUS1L', 'score': 25.66}, {'connected_gene': 'HGS', 'score': 23.26}, {'connected_gene': 'ENSG00000265678', 'score': 22.13}, {'connected_gene': 'LINC00482', 'score': 17.77}, {'connected_gene': 'TEPSIN', 'score': 13.94}, {'connected_gene': 'ENDOV', 'score': 13.64}, {'connected_gene': 'CEP131', 'score': 13.64}, {'connected_gene': 'ENSG00000260563', 'score': 13.14}, {'connected_gene': 'TSPAN10', 'score': 12.9}, {'connected_gene': 'SLC38A10', 'score': 12.89}, {'connected_gene': 'ARL16', 'score': 12.12}, {'connected_gene': 'ENSG00000262877', 'score': 11.82}, {'connected_gene': 'ENSG00000260369', 'score': 11.76}, {'connected_gene': 'CSNK1D', 'score': 11.36}, {'connected_gene': 'CCDC57', 'score': 11.26}, {'connected_gene': 'ENSG00000229848', 'score': 10.67}, {'connected_gene': 'NDUFAF8', 'score': 5.4}, {'connected_gene': 'MCRIP1', 'score': 5.35}, {'connected_gene': 'ACTG1', 'score': 4.02}, {'connected_gene': 'CHMP6', 'score': 3.92}, {'connected_gene': 'BAHCC1', 'score': 2.97}, {'connected_gene': 'MRPL12', 'score': 2.2}, {'connected_gene': 'PPP1R27', 'score': 2.0}, {'connected_gene': 'OXLD1', 'score': 1.98}, {'connected_gene': 'AATK', 'score': 1.41}, {'connected_gene': 'GC17M081346', 'score': 0.77}, {'connected_gene': 'ENSG00000275542', 'score': 0.77}, {'connected_gene': 'ENSG00000275966', 'score': 0.77}]
chr17	GH17I081441	81441162	81442253	0.72	[{'connected_gene': 'GC17M081444', 'score': 0.44}, {'connected_gene': 'MIR4740', 'score': 0.26}, {'connected_gene': 'BAHCC1', 'score': 0.25}]
chr17	GH17I081435	81435137	81438152	1.08	[{'connected_gene': 'ENSG00000262877', 'score': 5.87}, {'connected_gene': 'GC17M081444', 'score': 0.39}, {'connected_gene': 'MIR4740', 'score': 0.28}, {'connected_gene': 'BAHCC1', 'score': 0.26}]
chr17	GH17I081440	81440875	81441024	0.8	[{'connected_gene': 'GC17M081444', 'score': 0.44}, {'connected_gene': 'MIR4740', 'score': 0.26}, {'connected_gene': 'BAHCC1', 'score': 0.25}]
chr17	GH17I081432	81432915	81434900	0.68	[{'connected_gene': 'GC17M081444', 'score': 0.37}, {'connected_gene': 'MIR4740', 'score': 0.29}, {'connected_gene': 'BAHCC1', 'score': 0.28}]
chr17	GH17I081426	81426736	81430837	0.2	[{'connected_gene': 'GC17M081444', 'score': 0.34}, {'connected_gene': 'MIR4740', 'score': 0.31}, {'connected_gene': 'BAHCC1', 'score': 0.29}]