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
ENST00000268661	[[1993974, 1994894], [1995499, 1995619], [1995835, 1995931], [1996625, 1996727], [1996938, 1997099], [1997194, 1997381], [2000844, 2000980], [2002874, 2003043], [2003956, 2004149], [2004629, 2004727]]	[[1994837, 1994894], [1995499, 1995619], [1995835, 1995931], [1996625, 1996727], [1996938, 1997099], [1997194, 1997381], [2000844, 2000980], [2002874, 2003043], [2003956, 2004149], [2004629, 2004632]]
ENST00000565426	[[2002954, 2003043], [2003956, 2004149], [2007314, 2007607]]	[[2002954, 2003043], [2003956, 2003996]]
ENST00000566484	[[2004657, 2005010], [2007394, 2007598]]	None
NM_005061	[[1994579, 1994894], [1995499, 1995619], [1995835, 1995931], [1996625, 1996727], [1996938, 1997099], [1997194, 1997381], [2000844, 2000980], [2002874, 2003043], [2003956, 2004149], [2004629, 2004679]]	[[1994837, 1994894], [1995499, 1995619], [1995835, 1995931], [1996625, 1996727], [1996938, 1997099], [1997194, 1997381], [2000844, 2000980], [2002874, 2003043], [2003956, 2004149], [2004629, 2004632]]

Promoter

Chrom	Start	End	Description
chr16	2004683	2004699	CAGE_peak_1_at_RPL3L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I001900	1900240	1900409	0.62	[{'connected_gene': 'FAHD1', 'score': 33.47}, {'connected_gene': 'HS3ST6', 'score': 12.58}, {'connected_gene': 'MSRB1', 'score': 11.69}, {'connected_gene': 'RPL3L', 'score': 11.65}, {'connected_gene': 'NDUFB10', 'score': 11.65}, {'connected_gene': 'GC16P001892', 'score': 0.44}, {'connected_gene': 'PIR49138', 'score': 0.44}]
chr16	GH16I001901	1900480	1900629	0.52	[{'connected_gene': 'FAHD1', 'score': 31.59}, {'connected_gene': 'HS3ST6', 'score': 12.58}, {'connected_gene': 'MSRB1', 'score': 11.69}, {'connected_gene': 'RPL3L', 'score': 11.65}, {'connected_gene': 'NDUFB10', 'score': 11.65}, {'connected_gene': 'GC16P001892', 'score': 0.44}, {'connected_gene': 'PIR49138', 'score': 0.44}]
chr16	GH16I001863	1863820	1863969	0.62	[{'connected_gene': 'HS3ST6', 'score': 12.47}, {'connected_gene': 'MEIOB', 'score': 12.45}, {'connected_gene': 'MSRB1', 'score': 12.2}, {'connected_gene': 'RPL3L', 'score': 12.18}, {'connected_gene': 'NDUFB10', 'score': 12.17}, {'connected_gene': 'SYNGR3', 'score': 10.5}, {'connected_gene': 'LOC102723890', 'score': 0.44}, {'connected_gene': 'GC16M001851', 'score': 0.44}]
chr16	GH16I001953	1953755	1955344	1.13	[{'connected_gene': 'RPL3L', 'score': 575.58}, {'connected_gene': 'ENSG00000255513', 'score': 30.49}, {'connected_gene': 'MSRB1', 'score': 0.39}]
chr16	GH16I001956	1956828	1956952	0.22	[{'connected_gene': 'RPL3L', 'score': 550.77}, {'connected_gene': 'RNF151', 'score': 83.96}, {'connected_gene': 'ENSG00000255513', 'score': 35.56}, {'connected_gene': 'BRICD5', 'score': 17.35}, {'connected_gene': 'PRSS30P', 'score': 5.68}, {'connected_gene': 'MSRB1', 'score': 0.39}]
chr16	GH16I001937	1937859	1944299	2.48	[{'connected_gene': 'MSRB1', 'score': 556.23}, {'connected_gene': 'TELO2', 'score': 17.3}, {'connected_gene': 'ENSG00000260646', 'score': 16.49}, {'connected_gene': 'CRAMP1', 'score': 14.17}, {'connected_gene': 'ENSG00000261123', 'score': 13.28}, {'connected_gene': 'LOC105371049', 'score': 12.95}, {'connected_gene': 'LOC106660606', 'score': 12.2}, {'connected_gene': 'NUBP2', 'score': 12.17}, {'connected_gene': 'FAHD1', 'score': 12.13}, {'connected_gene': 'ENSG00000260447', 'score': 11.23}, {'connected_gene': 'TSC2', 'score': 11.04}, {'connected_gene': 'SNHG19', 'score': 10.94}, {'connected_gene': 'ERVK13-1', 'score': 10.77}, {'connected_gene': 'E4F1', 'score': 10.21}, {'connected_gene': 'HAGH', 'score': 9.07}, {'connected_gene': 'ENSG00000261613', 'score': 5.49}, {'connected_gene': 'GC16M001938', 'score': 0.77}, {'connected_gene': 'RPL3L', 'score': 0.37}]
chr16	GH16I001949	1949920	1950069	0.58	[{'connected_gene': 'MSRB1', 'score': 0.44}, {'connected_gene': 'RPL3L', 'score': 0.44}]
chr16	GH16I001944	1944340	1944489	0.98	[{'connected_gene': 'MSRB1', 'score': 550.77}, {'connected_gene': 'HAGH', 'score': 8.92}, {'connected_gene': 'RPL3L', 'score': 0.39}]
chr16	GH16I001958	1958839	1962037	2.07	[{'connected_gene': 'NDUFB10', 'score': 550.77}, {'connected_gene': 'ENSG00000255513', 'score': 55.62}, {'connected_gene': 'SNHG9', 'score': 46.26}, {'connected_gene': 'ENSG00000261505', 'score': 24.58}, {'connected_gene': 'RPL3L', 'score': 24.16}, {'connected_gene': 'CRAMP1', 'score': 22.94}, {'connected_gene': 'SRRM2', 'score': 21.64}, {'connected_gene': 'ENSG00000260051', 'score': 20.7}, {'connected_gene': 'TELO2', 'score': 19.18}, {'connected_gene': 'TSC2', 'score': 16.59}, {'connected_gene': 'E4F1', 'score': 16.5}, {'connected_gene': 'NUBP2', 'score': 16.3}, {'connected_gene': 'UNKL', 'score': 14.63}, {'connected_gene': 'ERVK13-1', 'score': 14.35}, {'connected_gene': 'IFT140', 'score': 13.64}, {'connected_gene': 'LOC105371055', 'score': 12.95}, {'connected_gene': 'ENSG00000260646', 'score': 12.28}, {'connected_gene': 'UBE2I', 'score': 11.86}, {'connected_gene': 'SPSB3', 'score': 11.58}, {'connected_gene': 'ENSG00000260954', 'score': 11.5}, {'connected_gene': 'ENSG00000261123', 'score': 11.02}, {'connected_gene': 'SNORA64', 'score': 10.73}, {'connected_gene': 'SNHG19', 'score': 10.72}, {'connected_gene': 'NME3', 'score': 10.71}, {'connected_gene': 'TRAF7', 'score': 10.61}, {'connected_gene': 'TBL3', 'score': 10.6}, {'connected_gene': 'LOC105371049', 'score': 10.59}, {'connected_gene': 'ZNF598', 'score': 10.3}, {'connected_gene': 'ENSG00000269937', 'score': 10.01}, {'connected_gene': 'AMDHD2', 'score': 9.77}, {'connected_gene': 'ENSG00000260447', 'score': 9.76}, {'connected_gene': 'GC16M001963', 'score': 0.77}, {'connected_gene': 'GC16M001965', 'score': 0.77}, {'connected_gene': 'SNORA10', 'score': 0.77}]
chr16	GH16I001945	1945321	1948160	0.63	[{'connected_gene': 'HAGH', 'score': 7.58}, {'connected_gene': 'ENSG00000255513', 'score': 5.71}, {'connected_gene': 'FAHD1', 'score': 4.66}, {'connected_gene': 'MSRB1', 'score': 0.77}, {'connected_gene': 'RPL3L', 'score': 0.39}]
chr16	GH16I001976	1976847	1981767	1.59	[{'connected_gene': 'NOXO1', 'score': 550.77}, {'connected_gene': 'ENSG00000255513', 'score': 13.93}, {'connected_gene': 'RPL3L', 'score': 11.97}, {'connected_gene': 'MSRB1', 'score': 11.9}, {'connected_gene': 'GFER', 'score': 8.31}, {'connected_gene': 'TBL3', 'score': 0.44}]
chr16	GH16I001895	1895872	1896344	0.43	[{'connected_gene': 'PIR49138', 'score': 550.77}, {'connected_gene': 'GC16M001894', 'score': 550.77}, {'connected_gene': 'FAHD1', 'score': 42.65}, {'connected_gene': 'HS3ST6', 'score': 12.55}, {'connected_gene': 'MSRB1', 'score': 12.32}, {'connected_gene': 'RPL3L', 'score': 12.28}, {'connected_gene': 'NDUFB10', 'score': 12.28}, {'connected_gene': 'IGFALS', 'score': 11.28}, {'connected_gene': 'HAGH', 'score': 11.21}, {'connected_gene': 'GC16P001892', 'score': 0.77}]
chr16	GH16I001855	1855330	1856102	0.2	[{'connected_gene': 'GC16M001851', 'score': 550.77}, {'connected_gene': 'FAHD1', 'score': 61.17}, {'connected_gene': 'HAGH', 'score': 34.0}, {'connected_gene': 'HS3ST6', 'score': 12.14}, {'connected_gene': 'MEIOB', 'score': 12.08}, {'connected_gene': 'IGFALS', 'score': 11.96}, {'connected_gene': 'MSRB1', 'score': 11.86}, {'connected_gene': 'RPL3L', 'score': 11.84}, {'connected_gene': 'NDUFB10', 'score': 11.84}, {'connected_gene': 'ENSG00000260541', 'score': 0.39}]
chr16	GH16I001950	1950266	1951667	0.51	[{'connected_gene': 'ENSG00000255513', 'score': 7.29}, {'connected_gene': 'MSRB1', 'score': 0.44}, {'connected_gene': 'RPL3L', 'score': 0.44}]
chr16	GH16I001962	1962180	1966263	2.29	[{'connected_gene': 'ENSG00000255513', 'score': 650.83}, {'connected_gene': 'SNORA64', 'score': 601.02}, {'connected_gene': 'SNHG9', 'score': 593.77}, {'connected_gene': 'RPS2', 'score': 556.73}, {'connected_gene': 'GC16P002197', 'score': 550.77}, {'connected_gene': 'GC16M001963', 'score': 550.77}, {'connected_gene': 'SNORA78', 'score': 550.77}, {'connected_gene': 'GC16P001995', 'score': 550.77}, {'connected_gene': 'GC16P002209', 'score': 550.77}, {'connected_gene': 'GC16M001962', 'score': 550.77}, {'connected_gene': 'GC16M001965', 'score': 550.77}, {'connected_gene': 'GC16M001966', 'score': 550.77}, {'connected_gene': 'SNORA10', 'score': 550.77}, {'connected_gene': 'ENSG00000261505', 'score': 81.99}, {'connected_gene': 'ENSG00000260051', 'score': 60.43}, {'connected_gene': 'SRRM2', 'score': 58.65}, {'connected_gene': 'TELO2', 'score': 54.03}, {'connected_gene': 'LOC105371055', 'score': 52.3}, {'connected_gene': 'E4F1', 'score': 51.41}, {'connected_gene': 'UNKL', 'score': 45.32}, {'connected_gene': 'TRAF7', 'score': 43.92}, {'connected_gene': 'TSC2', 'score': 43.9}, {'connected_gene': 'ENSG00000260954', 'score': 37.96}, {'connected_gene': 'NUBP2', 'score': 37.52}, {'connected_gene': 'SPSB3', 'score': 36.93}, {'connected_gene': 'ERVK13-1', 'score': 34.17}, {'connected_gene': 'ZNF598', 'score': 33.75}, {'connected_gene': 'CRAMP1', 'score': 33.38}, {'connected_gene': 'AMDHD2', 'score': 32.01}, {'connected_gene': 'UBE2I', 'score': 29.4}, {'connected_gene': 'RPL3L', 'score': 23.82}, {'connected_gene': 'SNORD60', 'score': 23.28}, {'connected_gene': 'IFT140', 'score': 23.0}, {'connected_gene': 'SYNGR3', 'score': 22.83}, {'connected_gene': 'CLCN7', 'score': 20.14}, {'connected_gene': 'LOC106660606', 'score': 19.82}, {'connected_gene': 'TBL3', 'score': 19.63}, {'connected_gene': 'PDPK2P', 'score': 18.41}, {'connected_gene': 'ENSG00000261207', 'score': 11.91}, {'connected_gene': 'LOC105371050', 'score': 11.64}, {'connected_gene': 'ENSG00000260447', 'score': 11.27}, {'connected_gene': 'CCDC154', 'score': 11.2}, {'connected_gene': 'SNHG19', 'score': 10.72}, {'connected_gene': 'NME3', 'score': 10.71}, {'connected_gene': 'LOC652276', 'score': 10.28}, {'connected_gene': 'FLYWCH2', 'score': 10.28}, {'connected_gene': 'ENSG00000269937', 'score': 10.01}, {'connected_gene': 'PRSS30P', 'score': 6.22}, {'connected_gene': 'MLST8', 'score': 6.1}]