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
ENST00000272542	[[113403433, 113403706], [113404139, 113404739], [113404900, 113405041], [113405229, 113405315], [113410278, 113410375], [113414698, 113414818], [113416401, 113416671], [113416780, 113417339], [113417963, 113418149], [113418718, 113418803], [113420440, 113421404]]	[[113404405, 113404739], [113404900, 113405041], [113405229, 113405315], [113410278, 113410375], [113414698, 113414818], [113416401, 113416671], [113416780, 113417339], [113417963, 113418149], [113418718, 113418803], [113420440, 113420602]]
ENST00000423633	[[113405023, 113405041], [113405229, 113405315], [113410278, 113410375], [113410465, 113410932]]	[[113405023, 113405041], [113405229, 113405315], [113410278, 113410375], [113410465, 113410533]]
ENST00000498224	[[113405199, 113405315], [113410278, 113410375], [113414698, 113414818], [113416401, 113416671], [113416780, 113416869]]	None
ENST00000433924	[[113405278, 113405315], [113410278, 113410375], [113414698, 113414818], [113416527, 113416671], [113416780, 113417020]]	[[113405278, 113405315], [113410278, 113410375], [113414698, 113414818], [113416527, 113416671], [113416780, 113417020]]
ENST00000456264	[[113405280, 113405315], [113410278, 113410375], [113410465, 113410524], [113414698, 113414818], [113416401, 113416664]]	[[113405280, 113405315], [113410278, 113410375], [113410465, 113410524], [113414698, 113414803]]
ENST00000413135	[[113405294, 113405315], [113410278, 113410375], [113414698, 113414818], [113416550, 113416671], [113416780, 113417005]]	[[113405294, 113405315], [113410278, 113410375], [113414698, 113414818], [113416550, 113416660]]
ENST00000480984	[[113409522, 113409649], [113410278, 113410375], [113414698, 113414818], [113416401, 113416671], [113416780, 113416904]]	None
ENST00000492076	[[113409846, 113410375], [113410465, 113410549]]	None
ENST00000490674	[[113415939, 113417339], [113417963, 113418803], [113420440, 113421402]]	None
NM_005415	[[113403433, 113403706], [113404139, 113404739], [113404900, 113405041], [113405229, 113405315], [113410278, 113410375], [113414698, 113414818], [113416401, 113416671], [113416780, 113417339], [113417963, 113418149], [113418718, 113418803], [113420440, 113421402]]	[[113404405, 113404739], [113404900, 113405041], [113405229, 113405315], [113410278, 113410375], [113414698, 113414818], [113416401, 113416671], [113416780, 113417339], [113417963, 113418149], [113418718, 113418803], [113420440, 113420602]]

Promoter

Chrom	Start	End	Description
chr2	113402998	113403011	CAGE_peak_6_at_SLC20A1_5end
chr2	113403487	113403496	CAGE_peak_2_at_SLC20A1_5end
chr2	113403507	113403526	CAGE_peak_1_at_SLC20A1_5end
chr2	113404132	113404165	CAGE_peak_3_at_SLC20A1_5end
chr2	113404212	113404229	CAGE_peak_9_at_SLC20A1_5end
chr2	113404235	113404256	CAGE_peak_4_at_SLC20A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I112599	112599794	112601058	1.14	[{'connected_gene': 'RGPD8', 'score': 11.53}, {'connected_gene': 'SLC20A1', 'score': 11.41}, {'connected_gene': 'FLJ42351', 'score': 11.41}, {'connected_gene': 'GC02P113653', 'score': 0.77}, {'connected_gene': 'GC02P113648', 'score': 0.44}, {'connected_gene': 'ENSG00000243389', 'score': 0.39}]
chr2	GH02I112729	112729282	112729800	0.31	[{'connected_gene': 'SLC20A1', 'score': 11.95}, {'connected_gene': 'FLJ42351', 'score': 11.95}, {'connected_gene': 'CHCHD5', 'score': 11.48}, {'connected_gene': 'ENSG00000207383', 'score': 11.48}, {'connected_gene': 'ENSG00000243389', 'score': 11.48}, {'connected_gene': 'IL1B', 'score': 11.34}, {'connected_gene': 'CKAP2L', 'score': 10.34}, {'connected_gene': 'IL37', 'score': 10.23}, {'connected_gene': 'NT5DC4', 'score': 6.4}, {'connected_gene': 'PSD4', 'score': 4.85}, {'connected_gene': 'GC02P113658', 'score': 0.39}]
chr2	GH02I112727	112727846	112728750	0.8	[{'connected_gene': 'SLC20A1', 'score': 11.95}, {'connected_gene': 'FLJ42351', 'score': 11.95}, {'connected_gene': 'ENSG00000243389', 'score': 11.49}, {'connected_gene': 'ENSG00000207383', 'score': 11.48}, {'connected_gene': 'CHCHD5', 'score': 11.48}, {'connected_gene': 'IL1B', 'score': 11.34}, {'connected_gene': 'CKAP2L', 'score': 10.34}, {'connected_gene': 'IL37', 'score': 10.23}, {'connected_gene': 'NT5DC4', 'score': 6.07}, {'connected_gene': 'GC02P113658', 'score': 0.39}]
chr2	GH02I112702	112702004	112702153	0.83	[{'connected_gene': 'SLC20A1', 'score': 11.62}, {'connected_gene': 'FLJ42351', 'score': 11.62}, {'connected_gene': 'ENSG00000243389', 'score': 11.02}, {'connected_gene': 'CHCHD5', 'score': 11.01}, {'connected_gene': 'ENSG00000207383', 'score': 11.01}, {'connected_gene': 'NT5DC4', 'score': 0.37}, {'connected_gene': 'LOC102724955', 'score': 0.31}]
chr2	GH02I112679	112679394	112680172	0.31	[{'connected_gene': 'SLC20A1', 'score': 12.16}, {'connected_gene': 'FLJ42351', 'score': 12.16}, {'connected_gene': 'NT5DC4', 'score': 12.02}, {'connected_gene': 'ENSG00000243389', 'score': 10.88}, {'connected_gene': 'CHCHD5', 'score': 10.87}, {'connected_gene': 'ENSG00000207383', 'score': 10.87}, {'connected_gene': 'IL37', 'score': 9.76}, {'connected_gene': 'LOC102724955', 'score': 0.44}]
chr2	GH02I112686	112686121	112687411	1.05	[{'connected_gene': 'SLC20A1', 'score': 12.81}, {'connected_gene': 'FLJ42351', 'score': 12.81}, {'connected_gene': 'LOC102724955', 'score': 0.39}, {'connected_gene': 'NT5DC4', 'score': 0.29}]
chr2	GH02I112724	112724800	112727473	1.21	[{'connected_gene': 'ANAPC1', 'score': 12.36}, {'connected_gene': 'SLC20A1', 'score': 11.95}, {'connected_gene': 'FLJ42351', 'score': 11.95}, {'connected_gene': 'RPS20P11', 'score': 11.84}, {'connected_gene': 'ENSG00000243389', 'score': 11.49}, {'connected_gene': 'ENSG00000207383', 'score': 11.48}, {'connected_gene': 'CHCHD5', 'score': 11.48}, {'connected_gene': 'TMEM87B', 'score': 11.44}, {'connected_gene': 'IL1B', 'score': 11.33}, {'connected_gene': 'CKAP2L', 'score': 10.34}, {'connected_gene': 'IL37', 'score': 10.23}, {'connected_gene': 'NT5DC4', 'score': 6.9}, {'connected_gene': 'RGPD8', 'score': 4.49}, {'connected_gene': 'GC02P113658', 'score': 0.37}]
chr2	GH02I112656	112656351	112657319	0.49	[{'connected_gene': 'FLJ42351', 'score': 37.62}, {'connected_gene': 'ENSG00000243389', 'score': 11.42}, {'connected_gene': 'CHCHD5', 'score': 11.41}, {'connected_gene': 'ENSG00000207383', 'score': 11.4}, {'connected_gene': 'PIR36945', 'score': 0.44}, {'connected_gene': 'GC02P113646', 'score': 0.44}, {'connected_gene': 'SLC20A1', 'score': 0.39}]
chr2	GH02I112642	112642769	112649351	2.49	[{'connected_gene': 'FLJ42351', 'score': 590.48}, {'connected_gene': 'PIR36945', 'score': 550.77}, {'connected_gene': 'SLC20A1', 'score': 550.77}, {'connected_gene': 'TMEM87B', 'score': 12.43}, {'connected_gene': 'ANAPC1', 'score': 11.12}, {'connected_gene': 'RPS20P11', 'score': 10.87}, {'connected_gene': 'ENSG00000243389', 'score': 10.26}, {'connected_gene': 'CHCHD5', 'score': 10.25}, {'connected_gene': 'ENSG00000207383', 'score': 10.24}, {'connected_gene': 'POLR1B', 'score': 5.1}]
chr2	GH02I112712	112712824	112713933	1.25	[{'connected_gene': 'FLJ42351', 'score': 16.83}, {'connected_gene': 'SLC20A1', 'score': 12.36}, {'connected_gene': 'CHCHD5', 'score': 10.9}, {'connected_gene': 'ENSG00000243389', 'score': 10.9}, {'connected_gene': 'ENSG00000207383', 'score': 10.89}, {'connected_gene': 'IL1B', 'score': 10.35}, {'connected_gene': 'POLR1B', 'score': 5.35}, {'connected_gene': 'NT5DC4', 'score': 0.44}, {'connected_gene': 'LOC102724955', 'score': 0.28}]
chr2	GH02I112614	112614201	112614954	0.58	[{'connected_gene': 'FLJ42351', 'score': 35.89}, {'connected_gene': 'SLC20A1', 'score': 12.26}, {'connected_gene': 'ENSG00000243389', 'score': 12.14}, {'connected_gene': 'CHCHD5', 'score': 12.12}, {'connected_gene': 'ENSG00000207383', 'score': 12.12}, {'connected_gene': 'NT5DC4', 'score': 12.11}, {'connected_gene': 'IL37', 'score': 10.16}, {'connected_gene': 'GC02P113648', 'score': 0.44}, {'connected_gene': 'RPS20P11', 'score': 0.44}]
chr2	GH02I112682	112682219	112685839	1.36	[{'connected_gene': 'FLJ42351', 'score': 18.91}, {'connected_gene': 'NT5DC4', 'score': 13.05}, {'connected_gene': 'SLC20A1', 'score': 12.83}, {'connected_gene': 'ANAPC1', 'score': 11.12}, {'connected_gene': 'ENSG00000243389', 'score': 10.88}, {'connected_gene': 'CHCHD5', 'score': 10.87}, {'connected_gene': 'ENSG00000207383', 'score': 10.87}, {'connected_gene': 'IL37', 'score': 9.76}, {'connected_gene': 'RGPD8', 'score': 4.34}, {'connected_gene': 'LOC102724955', 'score': 0.44}]
chr2	GH02I112690	112690538	112693917	1.78	[{'connected_gene': 'IL1RN', 'score': 24.41}, {'connected_gene': 'FLJ42351', 'score': 18.31}, {'connected_gene': 'IL36B', 'score': 17.61}, {'connected_gene': 'SLC20A1', 'score': 12.69}, {'connected_gene': 'IL1B', 'score': 11.43}, {'connected_gene': 'ENSG00000243389', 'score': 10.71}, {'connected_gene': 'CHCHD5', 'score': 10.7}, {'connected_gene': 'ENSG00000207383', 'score': 10.69}, {'connected_gene': 'IL36G', 'score': 4.59}, {'connected_gene': 'IL1A', 'score': 3.1}, {'connected_gene': 'PSD4', 'score': 1.18}, {'connected_gene': 'LOC102724955', 'score': 0.37}, {'connected_gene': 'NT5DC4', 'score': 0.31}]
chr2	GH02I112699	112699316	112701907	1.43	[{'connected_gene': 'IL1RN', 'score': 17.33}, {'connected_gene': 'NT5DC4', 'score': 12.49}, {'connected_gene': 'SLC20A1', 'score': 11.63}, {'connected_gene': 'FLJ42351', 'score': 11.63}, {'connected_gene': 'IL36B', 'score': 11.02}, {'connected_gene': 'ENSG00000243389', 'score': 11.02}, {'connected_gene': 'CHCHD5', 'score': 11.01}, {'connected_gene': 'ENSG00000207383', 'score': 11.01}, {'connected_gene': 'IL1B', 'score': 9.32}, {'connected_gene': 'IL1A', 'score': 4.46}, {'connected_gene': 'IL36G', 'score': 3.09}, {'connected_gene': 'LOC102724955', 'score': 0.31}]
chr2	GH02I112705	112705555	112709599	1.62	[{'connected_gene': 'IL1B', 'score': 17.73}, {'connected_gene': 'ENSG00000243389', 'score': 16.11}, {'connected_gene': 'IL1RN', 'score': 13.28}, {'connected_gene': 'SLC20A1', 'score': 12.36}, {'connected_gene': 'FLJ42351', 'score': 12.36}, {'connected_gene': 'IL36B', 'score': 11.11}, {'connected_gene': 'ENSG00000207383', 'score': 11.01}, {'connected_gene': 'CHCHD5', 'score': 11.01}, {'connected_gene': 'CDK8P2', 'score': 5.83}, {'connected_gene': 'IL36G', 'score': 2.57}, {'connected_gene': 'IL1A', 'score': 2.3}, {'connected_gene': 'NT5DC4', 'score': 0.39}, {'connected_gene': 'LOC102724955', 'score': 0.29}]
chr2	GH02I112900	112900194	112902540	0.42	[{'connected_gene': 'IL1B', 'score': 10.75}, {'connected_gene': 'IL1A', 'score': 10.51}, {'connected_gene': 'IL36G', 'score': 10.33}, {'connected_gene': 'HMGN2P23', 'score': 10.32}, {'connected_gene': 'SLC20A1', 'score': 9.54}, {'connected_gene': 'FLJ42351', 'score': 9.54}, {'connected_gene': 'CDK8P2', 'score': 6.75}, {'connected_gene': 'PSD4', 'score': 6.03}, {'connected_gene': 'IL37', 'score': 5.25}, {'connected_gene': 'LOC105373563', 'score': 0.44}, {'connected_gene': 'PIR39579', 'score': 0.37}]
chr2	GH02I112802	112802993	112806235	1.55	[{'connected_gene': 'IL1B', 'score': 11.97}, {'connected_gene': 'CKAP2L', 'score': 11.77}, {'connected_gene': 'IL37', 'score': 10.66}, {'connected_gene': 'SLC20A1', 'score': 10.29}, {'connected_gene': 'FLJ42351', 'score': 10.29}, {'connected_gene': 'IL1A', 'score': 3.57}, {'connected_gene': 'IL36G', 'score': 1.8}, {'connected_gene': 'IL1RN', 'score': 1.58}, {'connected_gene': 'GC02M112788', 'score': 0.37}, {'connected_gene': 'GC02P113658', 'score': 0.21}]
chr2	GH02I112719	112719031	112719278	0.51	[{'connected_gene': 'NT5DC4', 'score': 559.04}, {'connected_gene': 'SLC20A1', 'score': 11.16}, {'connected_gene': 'FLJ42351', 'score': 11.16}, {'connected_gene': 'POLR1B', 'score': 1.71}, {'connected_gene': 'IL1A', 'score': 1.57}, {'connected_gene': 'LOC102724955', 'score': 0.26}]
chr2	GH02I112720	112720912	112721712	0.52	[{'connected_gene': 'NT5DC4', 'score': 550.77}, {'connected_gene': 'SLC20A1', 'score': 11.15}, {'connected_gene': 'FLJ42351', 'score': 11.15}, {'connected_gene': 'GC02P113658', 'score': 0.34}]
chr2	GH02I112673	112673931	112675400	1.07	[{'connected_gene': 'LOC102724955', 'score': 550.77}, {'connected_gene': 'SLC20A1', 'score': 12.75}, {'connected_gene': 'FLJ42351', 'score': 12.75}, {'connected_gene': 'NT5DC4', 'score': 0.25}]
chr2	GH02I112587	112587309	112589305	0.6	[{'connected_gene': 'ENSG00000243389', 'score': 556.66}, {'connected_gene': 'PIR60450', 'score': 550.77}, {'connected_gene': 'CHCHD5', 'score': 12.78}, {'connected_gene': 'SLC20A1', 'score': 11.56}, {'connected_gene': 'FLJ42351', 'score': 11.56}, {'connected_gene': 'RGPD8', 'score': 9.24}, {'connected_gene': 'PIR48157', 'score': 0.77}]
chr2	GH02I112606	112606398	112606700	0.52	[{'connected_gene': 'GC02P113648', 'score': 550.77}, {'connected_gene': 'CHCHD5', 'score': 12.02}, {'connected_gene': 'ENSG00000207383', 'score': 11.99}, {'connected_gene': 'SLC20A1', 'score': 11.65}, {'connected_gene': 'FLJ42351', 'score': 11.65}, {'connected_gene': 'IL1B', 'score': 9.89}, {'connected_gene': 'IL37', 'score': 9.78}, {'connected_gene': 'GC02P113653', 'score': 0.39}, {'connected_gene': 'ENSG00000243389', 'score': 0.37}]
chr2	GH02I112659	112659584	112659733	0.69	[{'connected_gene': 'ENSG00000243389', 'score': 11.41}, {'connected_gene': 'CHCHD5', 'score': 11.4}, {'connected_gene': 'ENSG00000207383', 'score': 11.39}, {'connected_gene': 'GC02P113646', 'score': 0.44}, {'connected_gene': 'PIR36945', 'score': 0.39}, {'connected_gene': 'SLC20A1', 'score': 0.39}]
chr2	GH02I112660	112659204	112659353	0.74	[{'connected_gene': 'ENSG00000243389', 'score': 11.41}, {'connected_gene': 'ENSG00000207383', 'score': 11.4}, {'connected_gene': 'CHCHD5', 'score': 11.4}, {'connected_gene': 'GC02P113646', 'score': 0.44}, {'connected_gene': 'PIR36945', 'score': 0.39}, {'connected_gene': 'SLC20A1', 'score': 0.39}]
chr2	GH02I112655	112655330	112656337	0.7	[{'connected_gene': 'ENSG00000243389', 'score': 10.75}, {'connected_gene': 'CHCHD5', 'score': 10.74}, {'connected_gene': 'ENSG00000207383', 'score': 10.73}, {'connected_gene': 'PIR36945', 'score': 0.44}, {'connected_gene': 'GC02P113646', 'score': 0.44}, {'connected_gene': 'SLC20A1', 'score': 0.44}]
chr2	GH02I112650	112650647	112651634	0.46	[{'connected_gene': 'ENSG00000243389', 'score': 10.76}, {'connected_gene': 'CHCHD5', 'score': 10.75}, {'connected_gene': 'ENSG00000207383', 'score': 10.74}, {'connected_gene': 'FLJ42351', 'score': 7.93}, {'connected_gene': 'PIR36945', 'score': 0.77}, {'connected_gene': 'SLC20A1', 'score': 0.44}, {'connected_gene': 'GC02P113646', 'score': 0.39}]
chr2	GH02I112590	112590251	112592452	0.64	[{'connected_gene': 'PIR60450', 'score': 550.77}, {'connected_gene': 'ENSG00000228251', 'score': 550.77}, {'connected_gene': 'SLC20A1', 'score': 11.57}, {'connected_gene': 'FLJ42351', 'score': 11.57}, {'connected_gene': 'IL1B', 'score': 9.71}, {'connected_gene': 'RGPD8', 'score': 9.56}, {'connected_gene': 'GC02P113653', 'score': 0.77}, {'connected_gene': 'ENSG00000243389', 'score': 0.77}]
chr2	GH02I112666	112666137	112666956	1.03	[{'connected_gene': 'GC02P113646', 'score': 550.77}, {'connected_gene': 'FLJ42351', 'score': 19.31}, {'connected_gene': 'SLC20A1', 'score': 12.27}, {'connected_gene': 'LOC102724955', 'score': 0.44}]