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
ENST00000298139	[[30891316, 30891489], [30915887, 30916059], [30916668, 30916781], [30921804, 30921950], [30922430, 30922579], [30924548, 30924698], [30925773, 30925843], [30933688, 30933803], [30938382, 30938812], [30941214, 30941295], [30942681, 30942762], [30945291, 30945436], [30946405, 30946481], [30947980, 30948048], [30948349, 30948458], [30949345, 30949414], [30954283, 30954366], [30958364, 30958471], [30969130, 30969315], [30973869, 30974044], [30977758, 30977940], [30982037, 30982139], [30982423, 30982516], [30989880, 30990022], [30998945, 30999116], [30999196, 30999291], [31000141, 31000217], [31001065, 31001139], [31004568, 31004644], [31004879, 31004992], [31007856, 31007971], [31012139, 31012271], [31014883, 31015046], [31024537, 31024746], [31030510, 31031285]]	[[30915963, 30916059], [30916668, 30916781], [30921804, 30921950], [30922430, 30922579], [30924548, 30924698], [30925773, 30925843], [30933688, 30933803], [30938382, 30938812], [30941214, 30941295], [30942681, 30942762], [30945291, 30945436], [30946405, 30946481], [30947980, 30948048], [30948349, 30948458], [30949345, 30949414], [30954283, 30954366], [30958364, 30958471], [30969130, 30969315], [30973869, 30974044], [30977758, 30977940], [30982037, 30982139], [30982423, 30982516], [30989880, 30990022], [30998945, 30999116], [30999196, 30999291], [31000141, 31000217], [31001065, 31001139], [31004568, 31004644], [31004879, 31004992], [31007856, 31007971], [31012139, 31012271], [31014883, 31015046], [31024537, 31024746], [31030510, 31030618]]
ENST00000521620	[[30945159, 30945436], [30946405, 30946481], [30948349, 30948458], [30949345, 30949414], [30954283, 30954366], [30958364, 30958471], [30969130, 30969315], [30973869, 30974044], [30977758, 30977940], [30982037, 30982139], [30982423, 30982516], [30989880, 30990022], [30998945, 30999116], [30999196, 30999291], [31000141, 31000217], [31001065, 31001139], [31004568, 31004644], [31004879, 31004992], [31007856, 31007971], [31012139, 31012271], [31014883, 31015046], [31024537, 31024746], [31030510, 31031279]]	None
ENST00000520169	[[30977471, 30977940], [30982037, 30982139], [30982423, 30982481]]	None
NM_000553	[[30890777, 30891489], [30915887, 30916059], [30916668, 30916781], [30921804, 30921950], [30922430, 30922579], [30924548, 30924698], [30925773, 30925843], [30933688, 30933803], [30938382, 30938812], [30941214, 30941295], [30942681, 30942762], [30945291, 30945436], [30946405, 30946481], [30947980, 30948048], [30948349, 30948458], [30949345, 30949414], [30954283, 30954366], [30958364, 30958471], [30969130, 30969315], [30973869, 30974044], [30977758, 30977940], [30982037, 30982139], [30982423, 30982516], [30989880, 30990022], [30998945, 30999116], [30999196, 30999291], [31000141, 31000217], [31001065, 31001139], [31004568, 31004644], [31004879, 31004992], [31007856, 31007971], [31012139, 31012271], [31014883, 31015046], [31024537, 31024746], [31030510, 31031277]]	[[30915963, 30916059], [30916668, 30916781], [30921804, 30921950], [30922430, 30922579], [30924548, 30924698], [30925773, 30925843], [30933688, 30933803], [30938382, 30938812], [30941214, 30941295], [30942681, 30942762], [30945291, 30945436], [30946405, 30946481], [30947980, 30948048], [30948349, 30948458], [30949345, 30949414], [30954283, 30954366], [30958364, 30958471], [30969130, 30969315], [30973869, 30974044], [30977758, 30977940], [30982037, 30982139], [30982423, 30982516], [30989880, 30990022], [30998945, 30999116], [30999196, 30999291], [31000141, 31000217], [31001065, 31001139], [31004568, 31004644], [31004879, 31004992], [31007856, 31007971], [31012139, 31012271], [31014883, 31015046], [31024537, 31024746], [31030510, 31030618]]

Promoter

Chrom	Start	End	Description
chr8	30891298	30891363	CAGE_peak_1_at_WRN_5end
chr8	30891379	30891390	CAGE_peak_2_at_WRN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I030742	30742910	30745373	2.26	[{'connected_gene': 'UBXN8', 'score': 558.46}, {'connected_gene': 'GC08M030742', 'score': 550.77}, {'connected_gene': 'LOC105379355', 'score': 550.77}, {'connected_gene': 'WRN', 'score': 13.11}, {'connected_gene': 'GTF2E2', 'score': 11.56}, {'connected_gene': 'RPS15AP24', 'score': 10.83}, {'connected_gene': 'PPP2CB', 'score': 10.77}, {'connected_gene': 'RNU5A-3P', 'score': 10.06}, {'connected_gene': 'GSR', 'score': 9.73}]
chr8	GH08I031032	31032800	31035767	2.33	[{'connected_gene': 'WRN', 'score': 566.21}, {'connected_gene': 'PURG', 'score': 555.36}, {'connected_gene': 'GTF2E2', 'score': 23.84}, {'connected_gene': 'RPS15AP24', 'score': 12.17}, {'connected_gene': 'KCTD9P6', 'score': 11.52}, {'connected_gene': 'UBXN8', 'score': 1.25}, {'connected_gene': 'SUMO2P16', 'score': 0.15}]
chr8	GH08I030201	30201688	30202983	0.7	[{'connected_gene': 'WRN', 'score': 17.83}, {'connected_gene': 'GTF2E2', 'score': 11.85}, {'connected_gene': 'ENSG00000253708', 'score': 10.27}, {'connected_gene': 'LEPROTL1', 'score': 10.09}, {'connected_gene': 'RNU5A-3P', 'score': 10.0}, {'connected_gene': 'RBPMS', 'score': 9.91}, {'connected_gene': 'RBPMS-AS1', 'score': 9.91}, {'connected_gene': 'ENSG00000272375', 'score': 0.77}, {'connected_gene': 'HSPA8P11', 'score': 0.29}]
chr8	GH08I031106	31106199	31108134	0.84	[{'connected_gene': 'WRN', 'score': 14.23}, {'connected_gene': 'SUMO2P16', 'score': 0.34}, {'connected_gene': 'PURG', 'score': 0.19}]
chr8	GH08I031184	31184525	31185574	0.84	[{'connected_gene': 'WRN', 'score': 6.24}, {'connected_gene': 'ENSG00000253961', 'score': 0.44}, {'connected_gene': 'GC08P031205', 'score': 0.37}]
chr8	GH08I031049	31049509	31049763	0.42	[{'connected_gene': 'TEX15', 'score': 1.86}, {'connected_gene': 'PURG', 'score': 1.57}, {'connected_gene': 'WRN', 'score': 0.37}, {'connected_gene': 'SUMO2P16', 'score': 0.18}]
chr8	GH08I031076	31075298	31075967	0.59	[{'connected_gene': 'PPP2CB', 'score': 4.12}, {'connected_gene': 'PURG', 'score': 0.26}, {'connected_gene': 'WRN', 'score': 0.26}, {'connected_gene': 'SUMO2P16', 'score': 0.22}]
chr8	GH08I030810	30810800	30813748	2.04	[{'connected_gene': 'PPP2CB', 'score': 581.22}, {'connected_gene': 'GTF2E2', 'score': 27.52}, {'connected_gene': 'WRN', 'score': 27.38}, {'connected_gene': 'PIR42776', 'score': 0.39}]
chr8	GH08I030079	30079830	30084817	2.31	[{'connected_gene': 'SARAF', 'score': 566.76}, {'connected_gene': 'ENSG00000272256', 'score': 550.77}, {'connected_gene': 'HSPA8P11', 'score': 25.18}, {'connected_gene': 'LEPROTL1', 'score': 23.19}, {'connected_gene': 'WRN', 'score': 21.69}, {'connected_gene': 'GTF2E2', 'score': 20.1}, {'connected_gene': 'RNU6-1218P', 'score': 0.28}]
chr8	GH08I031075	31075125	31075274	0.46	[{'connected_gene': 'PURG', 'score': 0.26}, {'connected_gene': 'WRN', 'score': 0.26}, {'connected_gene': 'SUMO2P16', 'score': 0.22}]
chr8	GH08I030652	30652924	30659247	2.27	[{'connected_gene': 'GTF2E2', 'score': 564.82}, {'connected_gene': 'WRN', 'score': 22.37}, {'connected_gene': 'SMIM18', 'score': 7.9}, {'connected_gene': 'PPP2CB', 'score': 6.34}, {'connected_gene': 'RNU5A-3P', 'score': 0.39}]
chr8	GH08I030112	30112183	30114370	1.33	[{'connected_gene': 'LEPROTL1', 'score': 35.87}, {'connected_gene': 'WRN', 'score': 10.25}, {'connected_gene': 'SARAF', 'score': 5.44}, {'connected_gene': 'HSPA8P11', 'score': 5.25}, {'connected_gene': 'RPS15AP24', 'score': 0.77}, {'connected_gene': 'GC08M030097', 'score': 0.37}]
chr8	GH08I030136	30136479	30138054	1.09	[{'connected_gene': 'LEPROTL1', 'score': 30.12}, {'connected_gene': 'WRN', 'score': 29.3}, {'connected_gene': 'SARAF', 'score': 12.13}, {'connected_gene': 'GTF2E2', 'score': 11.84}, {'connected_gene': 'ENSG00000253708', 'score': 10.19}, {'connected_gene': 'HSPA8P11', 'score': 5.46}, {'connected_gene': 'RPS15AP24', 'score': 0.37}, {'connected_gene': 'ENSG00000271869', 'score': 0.37}, {'connected_gene': 'MBOAT4', 'score': 0.34}]
chr8	GH08I030088	30088167	30097403	2.73	[{'connected_gene': 'LEPROTL1', 'score': 595.63}, {'connected_gene': 'SARAF', 'score': 21.72}, {'connected_gene': 'HSPA8P11', 'score': 19.97}, {'connected_gene': 'WRN', 'score': 17.83}, {'connected_gene': 'GTF2E2', 'score': 11.83}, {'connected_gene': 'ENSG00000253708', 'score': 10.1}, {'connected_gene': 'MBOAT4', 'score': 5.37}, {'connected_gene': 'GC08M030097', 'score': 0.77}]
chr8	GH08I030141	30141148	30142414	1.06	[{'connected_gene': 'LEPROTL1', 'score': 13.14}, {'connected_gene': 'HSPA8P11', 'score': 12.7}, {'connected_gene': 'SARAF', 'score': 12.19}, {'connected_gene': 'WRN', 'score': 11.76}, {'connected_gene': 'ENSG00000271869', 'score': 0.39}, {'connected_gene': 'MBOAT4', 'score': 0.37}, {'connected_gene': 'RPS15AP24', 'score': 0.34}]
chr8	GH08I030050	30050725	30051836	1.17	[{'connected_gene': 'LEPROTL1', 'score': 18.09}, {'connected_gene': 'DUSP4', 'score': 10.55}, {'connected_gene': 'WRN', 'score': 10.25}, {'connected_gene': 'RNU6-1218P', 'score': 0.44}, {'connected_gene': 'ENSG00000272256', 'score': 0.29}]
chr8	GH08I030155	30155136	30158594	2.08	[{'connected_gene': 'DCTN6', 'score': 550.77}, {'connected_gene': 'ENSG00000271869', 'score': 550.77}, {'connected_gene': 'MBOAT4', 'score': 550.77}, {'connected_gene': 'WRN', 'score': 24.2}, {'connected_gene': 'LEPROTL1', 'score': 16.59}, {'connected_gene': 'SARAF', 'score': 12.25}, {'connected_gene': 'DUSP4', 'score': 10.55}, {'connected_gene': 'HSPA8P11', 'score': 9.98}]
chr8	GH08I031087	31087317	31088044	0.2	[{'connected_gene': 'SUMO2P16', 'score': 0.26}, {'connected_gene': 'PURG', 'score': 0.23}, {'connected_gene': 'WRN', 'score': 0.23}]