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
ENST00000466444	[[116892529, 116892818], [116901457, 116901523], [116905889, 116906020], [116910004, 116910148], [116911434, 116911567], [116912050, 116912113], [116914142, 116918838]]	[[116892745, 116892818], [116901457, 116901523], [116905889, 116906020], [116910004, 116910148], [116911434, 116911567], [116912050, 116912113], [116914142, 116914264]]
ENST00000368590	[[116892571, 116892818], [116894020, 116894148], [116895220, 116895334], [116901457, 116901523], [116905889, 116906020], [116910004, 116910148], [116911434, 116911461]]	[[116910022, 116910148], [116911434, 116911461]]
ENST00000392526	[[116892582, 116892818], [116894020, 116894148], [116895220, 116895334], [116901457, 116901523], [116905889, 116906020], [116910004, 116910148], [116911434, 116911567], [116912050, 116912113], [116914142, 116914432]]	[[116910022, 116910148], [116911434, 116911567], [116912050, 116912113], [116914142, 116914264]]
ENST00000487832	[[116892651, 116892818], [116895220, 116895334], [116901457, 116901523], [116905889, 116906020], [116910004, 116910148], [116911434, 116911567], [116912050, 116912113], [116914142, 116914751]]	[[116910022, 116910148], [116911434, 116911567], [116912050, 116912113], [116914142, 116914264]]
ENST00000517800	[[116892671, 116892818], [116894020, 116894148], [116901457, 116901523], [116905889, 116905994]]	None
ENST00000518117	[[116892725, 116892818], [116893584, 116893641], [116901457, 116901523], [116905889, 116906020], [116910004, 116910148], [116911434, 116911524]]	[[116910022, 116910148], [116911434, 116911524]]
ENST00000468204	[[116901369, 116901523], [116905889, 116906020], [116910004, 116910148], [116911434, 116911510]]	[[116910022, 116910148], [116911434, 116911510]]
NM_015952	[[116892529, 116892818], [116901457, 116901523], [116905889, 116906020], [116910004, 116910148], [116911434, 116911567], [116912050, 116912113], [116914142, 116914764]]	[[116892745, 116892818], [116901457, 116901523], [116905889, 116906020], [116910004, 116910148], [116911434, 116911567], [116912050, 116912113], [116914142, 116914264]]
NM_001007464	[[116892529, 116892818], [116895220, 116895334], [116901457, 116901523], [116905889, 116906020], [116910004, 116910148], [116911434, 116911567], [116912050, 116912113], [116914142, 116914764]]	[[116910022, 116910148], [116911434, 116911567], [116912050, 116912113], [116914142, 116914264]]
NM_016104	[[116892529, 116892818], [116894020, 116894148], [116895220, 116895334], [116901457, 116901523], [116905889, 116906020], [116910004, 116910148], [116911434, 116911567], [116912050, 116912113], [116914142, 116914764]]	[[116910022, 116910148], [116911434, 116911567], [116912050, 116912113], [116914142, 116914264]]

Promoter

Chrom	Start	End	Description
chr6	116892553	116892592	CAGE_peak_2_at_RWDD1_5end
chr6	116892610	116892615	CAGE_peak_4_at_RWDD1_5end
chr6	116892625	116892637	CAGE_peak_3_at_RWDD1_5end
chr6	116892641	116892718	CAGE_peak_1_at_RWDD1_5end
chr6	116892746	116892755	CAGE_peak_5_at_RWDD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I116570	116570344	116573335	2.11	[{'connected_gene': 'RWDD1', 'score': 579.12}, {'connected_gene': 'RSPH4A', 'score': 15.51}, {'connected_gene': 'CBX3P9', 'score': 14.32}, {'connected_gene': 'ENSG00000237021', 'score': 12.01}, {'connected_gene': 'ENSG00000240050', 'score': 11.94}]
chr6	GH06I116409	116409528	116412601	1.39	[{'connected_gene': 'CALHM6', 'score': 20.89}, {'connected_gene': 'DSE', 'score': 13.07}, {'connected_gene': 'CBX3P9', 'score': 12.09}, {'connected_gene': 'KRT18P22', 'score': 12.08}, {'connected_gene': 'ENSG00000244158', 'score': 12.06}, {'connected_gene': 'CALHM4', 'score': 11.43}, {'connected_gene': 'ENSG00000234117', 'score': 10.8}, {'connected_gene': 'RWDD1', 'score': 5.15}, {'connected_gene': 'PIR34878', 'score': 0.31}, {'connected_gene': 'PIR33476', 'score': 0.26}]
chr6	GH06I116461	116461418	116465890	2.17	[{'connected_gene': 'CALHM6', 'score': 591.71}, {'connected_gene': 'ENSG00000244158', 'score': 550.77}, {'connected_gene': 'DSE', 'score': 17.73}, {'connected_gene': 'ENSG00000234117', 'score': 13.13}, {'connected_gene': 'TRAPPC3L', 'score': 10.73}, {'connected_gene': 'RWDD1', 'score': 7.73}, {'connected_gene': 'TSPYL1', 'score': 5.86}, {'connected_gene': 'ZUFSP', 'score': 2.58}]
chr6	GH06I116679	116679966	116683205	2.28	[{'connected_gene': 'KPNA5', 'score': 552.54}, {'connected_gene': 'GC06M116680', 'score': 550.77}, {'connected_gene': 'DSE', 'score': 15.19}, {'connected_gene': 'ENSG00000240050', 'score': 11.07}, {'connected_gene': 'RWDD1', 'score': 6.14}, {'connected_gene': 'ENSG00000237021', 'score': 5.34}, {'connected_gene': 'CALHM6', 'score': 5.12}, {'connected_gene': 'ZUFSP', 'score': 1.96}, {'connected_gene': 'TSPYL1', 'score': 1.61}, {'connected_gene': 'TSPYL4', 'score': 1.49}, {'connected_gene': 'FAM162B', 'score': 0.18}]
chr6	GH06I116568	116568754	116569400	0.63	[{'connected_gene': 'KPNA5', 'score': 11.18}, {'connected_gene': 'TRAPPC3L', 'score': 11.04}, {'connected_gene': 'ENSG00000234117', 'score': 9.78}, {'connected_gene': 'RWDD1', 'score': 0.77}]
chr6	GH06I116561	116561201	116561711	0.83	[{'connected_gene': 'RSPH4A', 'score': 26.41}, {'connected_gene': 'CALHM6', 'score': 18.89}, {'connected_gene': 'CALHM4', 'score': 11.31}, {'connected_gene': 'ENSG00000234117', 'score': 10.47}, {'connected_gene': 'ENSG00000244158', 'score': 9.87}, {'connected_gene': 'KRT18P22', 'score': 9.86}, {'connected_gene': 'CBX3P9', 'score': 9.85}, {'connected_gene': 'RWDD1', 'score': 0.44}, {'connected_gene': 'TRAPPC3L', 'score': 0.37}]
chr6	GH06I116555	116555578	116559225	0.99	[{'connected_gene': 'RSPH4A', 'score': 25.88}, {'connected_gene': 'KPNA5', 'score': 20.55}, {'connected_gene': 'CALHM6', 'score': 19.4}, {'connected_gene': 'CALHM4', 'score': 11.5}, {'connected_gene': 'ENSG00000244158', 'score': 10.28}, {'connected_gene': 'KRT18P22', 'score': 10.28}, {'connected_gene': 'CBX3P9', 'score': 10.27}, {'connected_gene': 'ENSG00000234117', 'score': 9.76}, {'connected_gene': 'CALHM5', 'score': 9.21}, {'connected_gene': 'TRAPPC3L', 'score': 8.04}, {'connected_gene': 'RWDD1', 'score': 0.39}]
chr6	GH06I116615	116615801	116617009	1.93	[{'connected_gene': 'RSPH4A', 'score': 564.85}, {'connected_gene': 'ENSG00000240050', 'score': 24.53}, {'connected_gene': 'DSE', 'score': 12.6}, {'connected_gene': 'CBX3P9', 'score': 10.52}, {'connected_gene': 'RWDD1', 'score': 5.89}, {'connected_gene': 'GC06P116597', 'score': 0.37}, {'connected_gene': 'ZUFSP', 'score': 0.23}]
chr6	GH06I116562	116562392	116563253	0.8	[{'connected_gene': 'RSPH4A', 'score': 11.57}, {'connected_gene': 'CALHM4', 'score': 11.31}, {'connected_gene': 'ENSG00000234117', 'score': 10.46}, {'connected_gene': 'CALHM6', 'score': 8.7}, {'connected_gene': 'RWDD1', 'score': 0.44}, {'connected_gene': 'TRAPPC3L', 'score': 0.37}]
chr6	GH06I116564	116564801	116565600	0.31	[{'connected_gene': 'CALHM5', 'score': 11.7}, {'connected_gene': 'RSPH4A', 'score': 11.58}, {'connected_gene': 'CALHM4', 'score': 11.29}, {'connected_gene': 'ENSG00000234117', 'score': 10.46}, {'connected_gene': 'RWDD1', 'score': 0.44}, {'connected_gene': 'TRAPPC3L', 'score': 0.37}]
chr6	GH06I116510	116510958	116513533	1.87	[{'connected_gene': 'CALHM5', 'score': 563.08}, {'connected_gene': 'TRAPPC3L', 'score': 10.59}, {'connected_gene': 'CALHM6', 'score': 8.81}, {'connected_gene': 'RWDD1', 'score': 5.65}, {'connected_gene': 'CALHM4', 'score': 0.37}]
chr6	GH06I116665	116665596	116669407	2.25	[{'connected_gene': 'ZUFSP', 'score': 563.24}, {'connected_gene': 'CALHM5', 'score': 7.39}, {'connected_gene': 'KPNA5', 'score': 6.8}, {'connected_gene': 'RWDD1', 'score': 6.3}, {'connected_gene': 'DSE', 'score': 1.12}, {'connected_gene': 'GC06P116597', 'score': 0.2}]
chr6	GH06I116545	116545601	116545800	0.88	[{'connected_gene': 'TRAPPC3L', 'score': 550.77}, {'connected_gene': 'CALHM6', 'score': 7.41}, {'connected_gene': 'CALHM4', 'score': 0.37}, {'connected_gene': 'RWDD1', 'score': 0.31}]