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
ENST00000529704	[[67118247, 67119490], [67120161, 67120273], [67120458, 67120548], [67121009, 67121050]]	None
ENST00000533429	[[67119018, 67119490], [67120161, 67120549]]	None
ENST00000530584	[[67119018, 67119490], [67120161, 67120273], [67120458, 67120548], [67120764, 67120989]]	[[67120765, 67120870]]
ENST00000312419	[[67119018, 67119490], [67120161, 67120273], [67120458, 67120548], [67120773, 67121017]]	[[67119465, 67119490], [67120161, 67120273], [67120458, 67120548], [67120773, 67120870]]
ENST00000532830	[[67119018, 67119490], [67120161, 67120273], [67120458, 67120548], [67124213, 67124443]]	None
ENST00000534515	[[67119023, 67120548], [67120764, 67121032]]	None
ENST00000528087	[[67119035, 67120548], [67120773, 67120961]]	None
ENST00000539074	[[67119078, 67119490], [67120458, 67120548], [67120773, 67120985]]	[[67119437, 67119490], [67120458, 67120548], [67120773, 67120870]]
ENST00000531239	[[67119279, 67119490], [67120161, 67120273], [67120458, 67120548], [67120834, 67121005]]	[[67120497, 67120548], [67120834, 67120870]]
ENST00000524743	[[67119929, 67120273], [67120458, 67120631], [67121025, 67121066]]	None
ENST00000525255	[[67119994, 67120548], [67120764, 67121032]]	None
ENST00000542982	[[67120002, 67120273], [67120458, 67120996]]	None
ENST00000529000	[[67120363, 67120582], [67120681, 67121005]]	None
NR_046411	[[67118235, 67119490], [67120161, 67120273], [67120458, 67120548], [67120764, 67121067]]	None
NM_021173	[[67118235, 67119490], [67120161, 67120273], [67120458, 67120548], [67120773, 67121067]]	[[67119465, 67119490], [67120161, 67120273], [67120458, 67120548], [67120773, 67120870]]
NM_001256870	[[67118235, 67119490], [67120458, 67120548], [67120773, 67121067]]	[[67119437, 67119490], [67120458, 67120548], [67120773, 67120870]]
NR_046412	[[67118235, 67119490], [67120161, 67120273], [67120458, 67120548], [67120834, 67121067]]	None
NR_046413	[[67118235, 67119490], [67120161, 67120273], [67120458, 67120548], [67121009, 67121067]]	None

Promoter

Chrom	Start	End	Description
chr11	67120488	67120499	CAGE_peak_8_at_POLD4_5end
chr11	67120765	67120776	CAGE_peak_3_at_POLD4_5end
chr11	67120956	67120972	CAGE_peak_2_at_POLD4_5end
chr11	67120974	67121041	CAGE_peak_1_at_POLD4_5end
chr11	67124405	67124419	CAGE_peak_13_at_POLD4_5end
chr11	67124441	67124452	CAGE_peak_10_at_POLD4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I067382	67382236	67382272	0.51	[{'connected_gene': 'POLD4', 'score': 13.15}, {'connected_gene': 'CARNS1', 'score': 12.02}, {'connected_gene': 'PPP1CA', 'score': 12.0}, {'connected_gene': 'PTPRCAP', 'score': 11.84}, {'connected_gene': 'RPS6KB2', 'score': 11.75}, {'connected_gene': 'RPS6KB2-AS1', 'score': 11.73}, {'connected_gene': 'ENSG00000275484', 'score': 0.44}, {'connected_gene': 'PIR46028', 'score': 0.39}, {'connected_gene': 'LOC100130987', 'score': 0.21}, {'connected_gene': 'RAD9A', 'score': 0.21}]
chr11	GH11I067350	67350810	67358653	2.59	[{'connected_gene': 'POLD4', 'score': 552.76}, {'connected_gene': 'ENSG00000274251', 'score': 550.77}, {'connected_gene': 'RBM14', 'score': 13.36}, {'connected_gene': 'SSH3', 'score': 13.35}, {'connected_gene': 'ANKRD13D', 'score': 12.58}, {'connected_gene': 'KDM2A', 'score': 11.7}, {'connected_gene': 'PTPRCAP', 'score': 11.68}, {'connected_gene': 'RHOD', 'score': 10.46}, {'connected_gene': 'RBM4', 'score': 10.24}, {'connected_gene': 'CARNS1', 'score': 7.36}, {'connected_gene': 'CLCF1', 'score': 2.0}, {'connected_gene': 'GC11P067352', 'score': 0.77}, {'connected_gene': 'ENSG00000256514', 'score': 0.37}, {'connected_gene': 'LOC100130987', 'score': 0.28}, {'connected_gene': 'RAD9A', 'score': 0.28}]
chr11	GH11I067380	67380719	67382118	1.03	[{'connected_gene': 'CARNS1', 'score': 22.82}, {'connected_gene': 'SSH3', 'score': 16.03}, {'connected_gene': 'POLD4', 'score': 13.18}, {'connected_gene': 'PPP1CA', 'score': 12.0}, {'connected_gene': 'PTPRCAP', 'score': 11.84}, {'connected_gene': 'RPS6KB2', 'score': 11.75}, {'connected_gene': 'RPS6KB2-AS1', 'score': 11.73}, {'connected_gene': 'ENSG00000275484', 'score': 0.44}, {'connected_gene': 'PIR46028', 'score': 0.39}, {'connected_gene': 'LOC100130987', 'score': 0.21}, {'connected_gene': 'RAD9A', 'score': 0.21}]
chr11	GH11I067251	67251936	67255454	0.82	[{'connected_gene': 'SSH3', 'score': 28.91}, {'connected_gene': 'ANKRD13D', 'score': 25.26}, {'connected_gene': 'POLD4', 'score': 11.78}, {'connected_gene': 'RN7SKP239', 'score': 11.78}, {'connected_gene': 'ENSG00000256514', 'score': 11.76}, {'connected_gene': 'CLCF1', 'score': 11.76}, {'connected_gene': 'PPP1CA', 'score': 10.82}, {'connected_gene': 'RPS6KB2', 'score': 10.66}, {'connected_gene': 'PTPRCAP', 'score': 10.66}, {'connected_gene': 'RPS6KB2-AS1', 'score': 10.66}, {'connected_gene': 'RHOD', 'score': 7.73}, {'connected_gene': 'PIR44214', 'score': 0.44}, {'connected_gene': 'PIR33652', 'score': 0.39}, {'connected_gene': 'KDM2A', 'score': 0.12}]
chr11	GH11I068336	68336853	68338928	1	[{'connected_gene': 'C11orf24', 'score': 7.37}, {'connected_gene': 'TCIRG1', 'score': 4.93}, {'connected_gene': 'POLD4', 'score': 4.23}, {'connected_gene': 'LRP5', 'score': 0.28}, {'connected_gene': 'GC11P068379', 'score': 0.26}]
chr11	GH11I066965	66965661	66972443	1.69	[{'connected_gene': 'CLCF1', 'score': 17.27}, {'connected_gene': 'RAD9A', 'score': 14.17}, {'connected_gene': 'PC', 'score': 13.58}, {'connected_gene': 'RNU7-23P', 'score': 10.92}, {'connected_gene': 'CTSF', 'score': 6.72}, {'connected_gene': 'SPTBN2', 'score': 5.82}, {'connected_gene': 'GRK2', 'score': 2.58}, {'connected_gene': 'KDM2A', 'score': 1.66}, {'connected_gene': 'POLD4', 'score': 1.33}, {'connected_gene': 'C11orf86', 'score': 0.44}, {'connected_gene': 'LOC105369355', 'score': 0.39}]
chr11	GH11I067316	67316428	67318713	1.56	[{'connected_gene': 'LOC100130987', 'score': 550.77}, {'connected_gene': 'RAD9A', 'score': 550.77}, {'connected_gene': 'SSH3', 'score': 21.83}, {'connected_gene': 'ENSG00000258297', 'score': 17.15}, {'connected_gene': 'RBM4', 'score': 14.28}, {'connected_gene': 'KMT5B', 'score': 13.82}, {'connected_gene': 'RBM14', 'score': 13.16}, {'connected_gene': 'GRK2', 'score': 12.77}, {'connected_gene': 'UNC93B1', 'score': 12.57}, {'connected_gene': 'POLD4', 'score': 12.37}, {'connected_gene': 'RN7SKP239', 'score': 12.36}, {'connected_gene': 'CLCF1', 'score': 12.32}, {'connected_gene': 'ENSG00000256514', 'score': 12.32}, {'connected_gene': 'CORO1B', 'score': 12.03}, {'connected_gene': 'RNU6-1238P', 'score': 11.74}, {'connected_gene': 'TBC1D10C', 'score': 11.72}, {'connected_gene': 'CARNS1', 'score': 11.71}, {'connected_gene': 'PPP1CA', 'score': 11.7}, {'connected_gene': 'KDM2A', 'score': 11.22}, {'connected_gene': 'MRPL11', 'score': 10.47}, {'connected_gene': 'RHOD', 'score': 6.58}]
chr11	GH11I067383	67382401	67383198	1.28	[{'connected_gene': 'ENSG00000258297', 'score': 19.43}, {'connected_gene': 'RAD9A', 'score': 19.01}, {'connected_gene': 'KMT5B', 'score': 17.01}, {'connected_gene': 'RBM4', 'score': 14.62}, {'connected_gene': 'RBM14', 'score': 14.57}, {'connected_gene': 'CORO1B', 'score': 13.43}, {'connected_gene': 'RN7SKP239', 'score': 13.18}, {'connected_gene': 'POLD4', 'score': 13.15}, {'connected_gene': 'KDM2A', 'score': 12.2}, {'connected_gene': 'CARNS1', 'score': 12.02}, {'connected_gene': 'PPP1CA', 'score': 12.0}, {'connected_gene': 'PTPRCAP', 'score': 11.84}, {'connected_gene': 'RPS6KB2', 'score': 11.75}, {'connected_gene': 'RPS6KB2-AS1', 'score': 11.73}, {'connected_gene': 'CLCF1', 'score': 11.06}, {'connected_gene': 'SSH3', 'score': 10.92}, {'connected_gene': 'CCS', 'score': 9.89}, {'connected_gene': 'PIR46028', 'score': 0.44}, {'connected_gene': 'ENSG00000275484', 'score': 0.44}, {'connected_gene': 'LOC100130987', 'score': 0.21}]