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
ENST00000327268	[[66263166, 66265487], [66266979, 66267795], [66268779, 66268908], [66270067, 66270211], [66274229, 66274468], [66279137, 66279264], [66287226, 66287257]]	[[66265236, 66265487], [66266979, 66267795], [66268779, 66268908], [66270067, 66270211], [66274229, 66274461]]
ENST00000580666	[[66264337, 66265487], [66266979, 66267795], [66268779, 66268908], [66270067, 66270211], [66274229, 66274468], [66287226, 66287407]]	[[66265236, 66265487], [66266979, 66267795], [66268779, 66268908], [66270067, 66270211], [66274229, 66274461]]
ENST00000583477	[[66267768, 66267795], [66268779, 66268908], [66274229, 66274468], [66287226, 66287408]]	[[66267768, 66267795], [66268779, 66268908], [66274229, 66274461]]
ENST00000582867	[[66270188, 66270211], [66274229, 66274468], [66279137, 66279264], [66281685, 66281783], [66287226, 66287323]]	[[66270188, 66270211], [66274229, 66274461]]
NM_001174166	[[66263166, 66265487], [66266979, 66267795], [66268779, 66268908], [66270067, 66270211], [66274229, 66274468], [66279137, 66279264], [66287226, 66287405]]	[[66265236, 66265487], [66266979, 66267795], [66268779, 66268908], [66270067, 66270211], [66274229, 66274461]]
NM_004694	[[66263166, 66265487], [66266979, 66267795], [66268779, 66268908], [66270067, 66270211], [66274229, 66274468], [66287226, 66287405]]	[[66265236, 66265487], [66266979, 66267795], [66268779, 66268908], [66270067, 66270211], [66274229, 66274461]]

Promoter

Chrom	Start	End	Description
chr17	66287243	66287250	CAGE_peak_7_at_SLC16A6_5end
chr17	66287258	66287276	CAGE_peak_1_at_SLC16A6_5end
chr17	66287285	66287286	CAGE_peak_8_at_SLC16A6_5end
chr17	66287310	66287331	CAGE_peak_3_at_SLC16A6_5end
chr17	66287350	66287357	CAGE_peak_5_at_SLC16A6_5end
chr17	66287543	66287626	CAGE_peak_2_at_SLC16A6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I068287	68287259	68293454	2.61	[{'connected_gene': 'SLC16A6', 'score': 564.05}, {'connected_gene': 'ARSG', 'score': 550.29}, {'connected_gene': 'NOL11', 'score': 26.45}, {'connected_gene': 'AMZ2', 'score': 14.46}, {'connected_gene': 'BPTF', 'score': 12.65}, {'connected_gene': 'ABCA10', 'score': 10.48}, {'connected_gene': 'PRKAR1A', 'score': 3.05}, {'connected_gene': 'GC17P068267', 'score': 0.34}]
chr17	GH17I068293	68293691	68294763	0.82	[{'connected_gene': 'SLC16A6', 'score': 0.77}, {'connected_gene': 'ARSG', 'score': 0.28}, {'connected_gene': 'GC17M068333', 'score': 0.21}]
chr17	GH17I068311	68311498	68315640	1.67	[{'connected_gene': 'MIR635', 'score': 10.78}, {'connected_gene': 'SLC16A6', 'score': 6.91}, {'connected_gene': 'ABCA6', 'score': 4.91}, {'connected_gene': 'PRKAR1A', 'score': 3.8}, {'connected_gene': 'BPTF', 'score': 2.87}, {'connected_gene': 'GC17M068333', 'score': 0.26}, {'connected_gene': 'ARSG', 'score': 0.22}]
chr17	GH17I068325	68325960	68326149	0.72	[{'connected_gene': 'MIR635', 'score': 11.22}, {'connected_gene': 'GC17M068333', 'score': 0.31}, {'connected_gene': 'SLC16A6', 'score': 0.29}, {'connected_gene': 'ARSG', 'score': 0.2}]
chr17	GH17I068327	68325497	68325825	0.31	[{'connected_gene': 'MIR635', 'score': 10.45}, {'connected_gene': 'GC17M068333', 'score': 0.31}, {'connected_gene': 'SLC16A6', 'score': 0.29}, {'connected_gene': 'ARSG', 'score': 0.2}]
chr17	GH17I068322	68322180	68322301	0.31	[{'connected_gene': 'MIR635', 'score': 10.51}, {'connected_gene': 'WIPI1', 'score': 10.31}, {'connected_gene': 'GC17M068333', 'score': 0.29}, {'connected_gene': 'SLC16A6', 'score': 0.29}, {'connected_gene': 'ARSG', 'score': 0.2}]
chr17	GH17I068338	68338940	68339089	0.2	[{'connected_gene': 'MIR635', 'score': 10.82}, {'connected_gene': 'WIPI1', 'score': 10.27}, {'connected_gene': 'GC17M068333', 'score': 0.37}, {'connected_gene': 'SLC16A6', 'score': 0.25}, {'connected_gene': 'ARSG', 'score': 0.18}]
chr17	GH17I068301	68301143	68303438	0.97	[{'connected_gene': 'MIR635', 'score': 10.18}, {'connected_gene': 'WIPI1', 'score': 10.18}, {'connected_gene': 'SLC16A6', 'score': 0.39}, {'connected_gene': 'ARSG', 'score': 0.25}, {'connected_gene': 'GC17M068333', 'score': 0.23}]
chr17	GH17I068310	68310014	68310904	1.08	[{'connected_gene': 'MIR635', 'score': 10.9}, {'connected_gene': 'WIPI1', 'score': 9.73}, {'connected_gene': 'SLC16A6', 'score': 6.11}, {'connected_gene': 'BPTF', 'score': 2.9}, {'connected_gene': 'PRKAR1A', 'score': 1.28}, {'connected_gene': 'GC17M068333', 'score': 0.26}, {'connected_gene': 'ARSG', 'score': 0.23}]
chr17	GH17I068296	68296007	68298861	1.32	[{'connected_gene': 'MIR635', 'score': 10.44}, {'connected_gene': 'WIPI1', 'score': 9.96}, {'connected_gene': 'PRKAR1A', 'score': 6.44}, {'connected_gene': 'SLC16A6', 'score': 2.75}, {'connected_gene': 'BPTF', 'score': 1.84}, {'connected_gene': 'ARSG', 'score': 0.26}, {'connected_gene': 'GC17M068333', 'score': 0.22}]
chr17	GH17I068343	68343507	68348217	1.12	[{'connected_gene': 'MIR635', 'score': 10.83}, {'connected_gene': 'WIPI1', 'score': 10.64}, {'connected_gene': 'PRKAR1A', 'score': 7.81}, {'connected_gene': 'AMZ2', 'score': 4.71}, {'connected_gene': 'ENSG00000267731', 'score': 4.54}, {'connected_gene': 'LINC00674', 'score': 4.15}, {'connected_gene': 'SLC16A6', 'score': 2.86}, {'connected_gene': 'GC17M068333', 'score': 0.44}, {'connected_gene': 'ARSG', 'score': 0.17}]
chr17	GH17I068317	68317424	68320817	1.61	[{'connected_gene': 'MIR635', 'score': 10.79}, {'connected_gene': 'WIPI1', 'score': 10.52}, {'connected_gene': 'ABCA6', 'score': 5.66}, {'connected_gene': 'SLC16A6', 'score': 4.91}, {'connected_gene': 'BPTF', 'score': 2.0}, {'connected_gene': 'GC17M068333', 'score': 0.28}, {'connected_gene': 'ARSG', 'score': 0.21}]
chr17	GH17I068497	68497343	68499600	1.51	[{'connected_gene': 'PRKAR1A', 'score': 16.99}, {'connected_gene': 'WIPI1', 'score': 16.62}, {'connected_gene': 'SLC16A6', 'score': 1.53}, {'connected_gene': 'GC17P068532', 'score': 0.29}, {'connected_gene': 'ENSG00000267009', 'score': 0.18}]
chr17	GH17I068508	68508896	68515808	2.65	[{'connected_gene': 'PRKAR1A', 'score': 566.52}, {'connected_gene': 'NOL11', 'score': 81.17}, {'connected_gene': 'BPTF', 'score': 67.83}, {'connected_gene': 'ABCA9', 'score': 12.78}, {'connected_gene': 'ABCA10', 'score': 10.48}, {'connected_gene': 'SNRPGP4', 'score': 10.41}, {'connected_gene': 'ENSG00000267731', 'score': 10.0}, {'connected_gene': 'WIPI1', 'score': 9.08}, {'connected_gene': 'SLC16A6', 'score': 3.33}, {'connected_gene': 'GC17P068532', 'score': 0.34}, {'connected_gene': 'ENSG00000267009', 'score': 0.15}]
chr17	GH17I068337	68337920	68338069	0.2	[{'connected_gene': 'WIPI1', 'score': 10.22}, {'connected_gene': 'GC17M068333', 'score': 0.37}, {'connected_gene': 'SLC16A6', 'score': 0.25}, {'connected_gene': 'ARSG', 'score': 0.18}]
chr17	GH17I068352	68352342	68352529	0.26	[{'connected_gene': 'WIPI1', 'score': 10.61}, {'connected_gene': 'MIR635', 'score': 10.49}, {'connected_gene': 'PRKAR1A', 'score': 1.36}, {'connected_gene': 'GC17M068333', 'score': 0.77}, {'connected_gene': 'SLC16A6', 'score': 0.21}, {'connected_gene': 'ARSG', 'score': 0.15}]
chr17	GH17I068454	68454128	68458681	2.55	[{'connected_gene': 'WIPI1', 'score': 562.22}, {'connected_gene': 'NOL11', 'score': 24.92}, {'connected_gene': 'PRKAR1A', 'score': 13.18}, {'connected_gene': 'ABCA10', 'score': 10.28}, {'connected_gene': 'LINC01482', 'score': 4.72}, {'connected_gene': 'SLC16A6', 'score': 2.77}, {'connected_gene': 'MIR635', 'score': 0.29}, {'connected_gene': 'ENSG00000267009', 'score': 0.26}]
chr17	GH17I068284	68284546	68285549	0.2	[{'connected_gene': 'AMZ2', 'score': 14.92}, {'connected_gene': 'SLC16A6', 'score': 7.18}, {'connected_gene': 'GC17P068267', 'score': 0.37}, {'connected_gene': 'ARSG', 'score': 0.31}]
chr17	GH17I068273	68273133	68274529	0.43	[{'connected_gene': 'AMZ2', 'score': 14.88}, {'connected_gene': 'MIR635', 'score': 11.57}, {'connected_gene': 'WIPI1', 'score': 11.24}, {'connected_gene': 'GC17P068267', 'score': 0.44}, {'connected_gene': 'ARSG', 'score': 0.37}, {'connected_gene': 'SLC16A6', 'score': 0.37}]
chr17	GH17I068304	68304697	68306055	1.22	[{'connected_gene': 'AMZ2', 'score': 11.33}, {'connected_gene': 'ARSG', 'score': 10.57}, {'connected_gene': 'MIR635', 'score': 10.56}, {'connected_gene': 'SLC16A6', 'score': 3.85}, {'connected_gene': 'BPTF', 'score': 1.89}, {'connected_gene': 'GC17M068333', 'score': 0.25}]
chr17	GH17I068326	68326488	68330404	1.29	[{'connected_gene': 'NOL11', 'score': 15.09}, {'connected_gene': 'MIR635', 'score': 11.22}, {'connected_gene': 'SNRPGP4', 'score': 10.41}, {'connected_gene': 'SLC16A6', 'score': 2.63}, {'connected_gene': 'GC17M068333', 'score': 0.31}, {'connected_gene': 'ARSG', 'score': 0.19}]
chr17	GH17I068377	68377016	68388670	1.84	[{'connected_gene': 'NOL11', 'score': 46.34}, {'connected_gene': 'BPTF', 'score': 25.12}, {'connected_gene': 'MIR635', 'score': 11.51}, {'connected_gene': 'SNRPGP4', 'score': 10.41}, {'connected_gene': 'SLC16A6', 'score': 5.13}, {'connected_gene': 'AMZ2', 'score': 5.08}, {'connected_gene': 'WIPI1', 'score': 1.92}, {'connected_gene': 'GC17M068333', 'score': 0.31}, {'connected_gene': 'PRKAR1A', 'score': 0.29}, {'connected_gene': 'ENSG00000267009', 'score': 0.29}, {'connected_gene': 'ARSG', 'score': 0.13}]
chr17	GH17I068227	68227366	68230243	0.57	[{'connected_gene': 'ARSG', 'score': 10.82}, {'connected_gene': 'AMZ2', 'score': 9.78}, {'connected_gene': 'ENSG00000265100', 'score': 6.54}, {'connected_gene': 'SLC16A6', 'score': 4.61}, {'connected_gene': 'GC17P068233', 'score': 0.77}, {'connected_gene': 'GC17P068227', 'score': 0.34}]
chr17	GH17I068234	68234022	68241288	1.53	[{'connected_gene': 'BPTF', 'score': 12.37}, {'connected_gene': 'ARHGAP27P2', 'score': 8.31}, {'connected_gene': 'AMZ2', 'score': 8.25}, {'connected_gene': 'ARSG', 'score': 7.16}, {'connected_gene': 'SLC16A6', 'score': 5.59}, {'connected_gene': 'GC17P068233', 'score': 0.77}, {'connected_gene': 'ENSG00000265100', 'score': 0.39}]
chr17	GH17I067824	67824267	67828001	2.34	[{'connected_gene': 'BPTF', 'score': 603.66}, {'connected_gene': 'NOL11', 'score': 40.19}, {'connected_gene': 'HELZ', 'score': 38.94}, {'connected_gene': 'SH3GL1P3', 'score': 14.69}, {'connected_gene': 'LOC100418928', 'score': 10.56}, {'connected_gene': 'ENSG00000267731', 'score': 10.01}, {'connected_gene': 'LINC00674', 'score': 9.43}, {'connected_gene': 'ENSG00000265055', 'score': 5.06}, {'connected_gene': 'PITPNC1', 'score': 1.52}, {'connected_gene': 'SLC16A6', 'score': 1.46}, {'connected_gene': 'ENSG00000266717', 'score': 0.13}]
chr17	GH17I067438	67438568	67444987	1.56	[{'connected_gene': 'BPTF', 'score': 106.38}, {'connected_gene': 'NOL11', 'score': 97.67}, {'connected_gene': 'HELZ', 'score': 86.24}, {'connected_gene': 'LOC100418928', 'score': 28.37}, {'connected_gene': 'ENSG00000267731', 'score': 26.16}, {'connected_gene': 'MIR548D2', 'score': 13.03}, {'connected_gene': 'MIR548AA2', 'score': 13.03}, {'connected_gene': 'PITPNC1', 'score': 10.71}, {'connected_gene': 'SLC16A6', 'score': 5.33}, {'connected_gene': 'RN7SL756P', 'score': 0.37}, {'connected_gene': 'ENSG00000201547', 'score': 0.29}]
chr17	GH17I068354	68353100	68353269	0.69	[{'connected_gene': 'GC17M068333', 'score': 550.77}, {'connected_gene': 'MIR635', 'score': 10.9}, {'connected_gene': 'WIPI1', 'score': 10.61}, {'connected_gene': 'SLC16A6', 'score': 0.21}, {'connected_gene': 'ARSG', 'score': 0.15}]