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
ENST00000372726	[[44002525, 44002651], [44003678, 44004192], [44005851, 44005982], [44006178, 44006253], [44006828, 44007033]]	[[44002546, 44002651], [44003678, 44004192], [44005851, 44005982], [44006178, 44006253], [44006828, 44006876]]
ENST00000537995	[[44002527, 44002651], [44003678, 44004192], [44005851, 44005982], [44006178, 44006253], [44006828, 44007033]]	[[44002546, 44002651], [44003678, 44004192], [44005851, 44005982], [44006178, 44006253]]
ENST00000494455	[[44004116, 44004192], [44005851, 44005982], [44006178, 44006253], [44032892, 44032947], [44034356, 44034460], [44036388, 44036529]]	None
ENST00000488588	[[44005836, 44005982], [44006178, 44006253], [44032892, 44032947], [44034356, 44034634]]	None
ENST00000468375	[[44032715, 44032947], [44034356, 44034460], [44036388, 44036517]]	None
NM_014477	[[44002519, 44002651], [44003678, 44004192], [44005851, 44005982], [44006178, 44006253], [44006828, 44006957]]	[[44002546, 44002651], [44003678, 44004192], [44005851, 44005982], [44006178, 44006253], [44006828, 44006876]]

Promoter

Chrom	Start	End	Description
chr20	44006899	44006910	CAGE_peak_7_at_TP53TG5_5end
chr20	44006945	44006970	CAGE_peak_3_at_TP53TG5_5end
chr20	44007014	44007026	CAGE_peak_9_at_TP53TG5_5end
chr20	44036484	44036540	CAGE_peak_1_at_TP53TG5_5end
chr20	44036704	44036714	CAGE_peak_4_at_TP53TG5_5end
chr20	44036767	44036781	CAGE_peak_2_at_TP53TG5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I045362	45362505	45364401	2.09	[{'connected_gene': 'SYS1', 'score': 561.13}, {'connected_gene': 'SYS1-DBNDD2', 'score': 550.77}, {'connected_gene': 'NCOA5', 'score': 33.95}, {'connected_gene': 'ZNF335', 'score': 29.4}, {'connected_gene': 'TP53TG5', 'score': 20.89}, {'connected_gene': 'PCIF1', 'score': 20.28}, {'connected_gene': 'ZSWIM1', 'score': 20.01}, {'connected_gene': 'CD40', 'score': 10.32}, {'connected_gene': 'ENSG00000271984', 'score': 9.92}, {'connected_gene': 'NDUFB4P10', 'score': 0.31}]
chr20	GH20I045421	45421128	45421704	0.2	[{'connected_gene': 'SYS1', 'score': 20.92}, {'connected_gene': 'SYS1-DBNDD2', 'score': 11.78}, {'connected_gene': 'TP53TG5', 'score': 9.91}, {'connected_gene': 'MIR6812', 'score': 0.77}, {'connected_gene': 'PIGT', 'score': 0.44}]
chr20	GH20I045409	45409629	45410460	0.31	[{'connected_gene': 'SYS1', 'score': 11.35}, {'connected_gene': 'DBNDD2', 'score': 0.77}, {'connected_gene': 'TP53TG5', 'score': 0.77}, {'connected_gene': 'PIGT', 'score': 0.44}, {'connected_gene': 'SYS1-DBNDD2', 'score': 0.25}]
chr20	GH20I045411	45411656	45413073	0.31	[{'connected_gene': 'SYS1', 'score': 10.83}, {'connected_gene': 'PIGT', 'score': 0.77}, {'connected_gene': 'TP53TG5', 'score': 0.77}]
chr20	GH20I044941	44941328	44941451	0.4	[{'connected_gene': 'PABPC1L', 'score': 11.42}, {'connected_gene': 'TP53TG5', 'score': 2.62}, {'connected_gene': 'RBPJL', 'score': 1.76}, {'connected_gene': 'STK4', 'score': 1.6}, {'connected_gene': 'PIR52220', 'score': 0.44}, {'connected_gene': 'TOMM34', 'score': 0.37}]
chr20	GH20I045353	45353928	45355968	1.12	[{'connected_gene': 'DBNDD2', 'score': 39.01}, {'connected_gene': 'NCOA5', 'score': 23.57}, {'connected_gene': 'TP53TG5', 'score': 19.79}, {'connected_gene': 'PIGT', 'score': 11.34}, {'connected_gene': 'SYS1', 'score': 11.02}, {'connected_gene': 'MATN4', 'score': 10.97}, {'connected_gene': 'RBPJL', 'score': 10.97}, {'connected_gene': 'SDC4', 'score': 0.44}]
chr20	GH20I045367	45367601	45369400	1.01	[{'connected_gene': 'DBNDD2', 'score': 37.27}, {'connected_gene': 'TP53TG5', 'score': 20.82}, {'connected_gene': 'SYS1', 'score': 10.8}, {'connected_gene': 'SYS1-DBNDD2', 'score': 0.44}, {'connected_gene': 'NDUFB4P10', 'score': 0.34}]
chr20	GH20I045405	45405635	45409253	2.35	[{'connected_gene': 'DBNDD2', 'score': 586.47}, {'connected_gene': 'TP53TG5', 'score': 550.77}, {'connected_gene': 'SYS1', 'score': 10.85}, {'connected_gene': 'SYS1-DBNDD2', 'score': 0.26}]
chr20	GH20I045357	45357057	45361408	1.16	[{'connected_gene': 'DBNDD2', 'score': 39.11}, {'connected_gene': 'TP53TG5', 'score': 19.83}, {'connected_gene': 'SYS1', 'score': 11.67}, {'connected_gene': 'PIGT', 'score': 11.35}, {'connected_gene': 'SDC4', 'score': 0.39}]
chr20	GH20I045372	45372601	45374610	1.42	[{'connected_gene': 'DBNDD2', 'score': 60.3}, {'connected_gene': 'TP53TG5', 'score': 13.5}, {'connected_gene': 'PIGT', 'score': 12.05}, {'connected_gene': 'SYS1', 'score': 10.34}, {'connected_gene': 'KCNS1', 'score': 1.62}, {'connected_gene': 'WFDC11', 'score': 1.38}, {'connected_gene': 'SYS1-DBNDD2', 'score': 0.39}, {'connected_gene': 'NDUFB4P10', 'score': 0.37}]
chr20	GH20I045392	45392468	45393664	0.49	[{'connected_gene': 'PIGT', 'score': 12.98}, {'connected_gene': 'SYS1-DBNDD2', 'score': 11.79}, {'connected_gene': 'SYS1', 'score': 11.77}, {'connected_gene': 'NDUFB4P10', 'score': 0.77}, {'connected_gene': 'DBNDD2', 'score': 0.39}, {'connected_gene': 'TP53TG5', 'score': 0.39}]
chr20	GH20I045415	45415290	45417217	2.25	[{'connected_gene': 'PIGT', 'score': 550.77}, {'connected_gene': 'DBNDD2', 'score': 38.52}, {'connected_gene': 'TP53TG5', 'score': 21.07}, {'connected_gene': 'SYS1', 'score': 11.33}, {'connected_gene': 'RPS2P7', 'score': 10.47}, {'connected_gene': 'MIR6812', 'score': 0.44}]
chr20	GH20I045383	45383341	45383410	0.43	[{'connected_gene': 'PIGT', 'score': 12.27}, {'connected_gene': 'ENSG00000237464', 'score': 10.12}, {'connected_gene': 'RNU6ATAC38P', 'score': 9.44}, {'connected_gene': 'NDUFB4P10', 'score': 0.44}, {'connected_gene': 'SYS1-DBNDD2', 'score': 0.34}, {'connected_gene': 'TP53TG5', 'score': 0.34}]
chr20	GH20I045378	45378315	45378374	0.61	[{'connected_gene': 'TP53TG5', 'score': 561.93}, {'connected_gene': 'PIGT', 'score': 11.95}, {'connected_gene': 'DBNDD2', 'score': 11.93}, {'connected_gene': 'NDUFB4P10', 'score': 0.39}, {'connected_gene': 'SYS1-DBNDD2', 'score': 0.37}]
chr20	GH20I045410	45410647	45411486	0.77	[{'connected_gene': 'TP53TG5', 'score': 0.77}, {'connected_gene': 'PIGT', 'score': 0.44}]
chr20	GH20I045428	45428212	45428727	0.2	[{'connected_gene': 'LOC105372631', 'score': 550.77}, {'connected_gene': 'DBNDD2', 'score': 24.99}, {'connected_gene': 'TP53TG5', 'score': 13.05}, {'connected_gene': 'SDC4', 'score': 12.11}, {'connected_gene': 'SYS1-DBNDD2', 'score': 11.76}, {'connected_gene': 'SYS1', 'score': 11.76}, {'connected_gene': 'DNTTIP1', 'score': 5.87}, {'connected_gene': 'GC20P045440', 'score': 0.39}, {'connected_gene': 'PIGT', 'score': 0.39}]