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

Promoter

Chrom	Start	End	Description
chr2	37458776	37458862	CAGE_peak_1_at_C2orf56_5end
chr2	37458904	37458927	CAGE_peak_3_at_C2orf56_5end
chr2	37458928	37458976	CAGE_peak_2_at_C2orf56_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I037189	37189334	37190889	1.25	[{'connected_gene': 'EIF2AK2', 'score': 16.63}, {'connected_gene': 'NDUFAF7', 'score': 16.02}, {'connected_gene': 'CEBPZOS', 'score': 12.49}, {'connected_gene': 'CEBPZ', 'score': 11.25}, {'connected_gene': 'RPL31P16', 'score': 0.77}, {'connected_gene': 'SULT6B1', 'score': 0.44}]
chr2	GH02I037154	37154952	37158088	1.9	[{'connected_gene': 'EIF2AK2', 'score': 563.87}, {'connected_gene': 'NDUFAF7', 'score': 21.67}, {'connected_gene': 'ENSG00000272054', 'score': 12.53}, {'connected_gene': 'RPL31P16', 'score': 10.97}, {'connected_gene': 'CEBPZOS', 'score': 10.97}, {'connected_gene': 'SULT6B1', 'score': 10.95}, {'connected_gene': 'CEBPZ', 'score': 10.76}, {'connected_gene': 'ENSG00000224891', 'score': 0.44}]
chr2	GH02I037243	37243403	37244173	0.46	[{'connected_gene': 'EIF2AK2', 'score': 10.47}, {'connected_gene': 'RNU6-939P', 'score': 10.27}, {'connected_gene': 'PRKD3', 'score': 4.53}, {'connected_gene': 'PIR46347', 'score': 0.77}, {'connected_gene': 'GC02P037236', 'score': 0.44}, {'connected_gene': 'NDUFAF7', 'score': 0.39}]
chr2	GH02I037181	37181095	37182670	1.09	[{'connected_gene': 'NDUFAF7', 'score': 26.06}, {'connected_gene': 'EIF2AK2', 'score': 18.05}, {'connected_gene': 'CEBPZOS', 'score': 12.21}, {'connected_gene': 'CEBPZ', 'score': 10.97}, {'connected_gene': 'RNU6-939P', 'score': 10.07}, {'connected_gene': 'SULT6B1', 'score': 6.6}, {'connected_gene': 'PRKD3', 'score': 4.91}, {'connected_gene': 'RPL31P16', 'score': 0.39}]
chr2	GH02I037223	37223446	37225428	0.46	[{'connected_gene': 'NDUFAF7', 'score': 4.85}, {'connected_gene': 'GPATCH11', 'score': 4.47}, {'connected_gene': 'CEBPZ', 'score': 0.44}, {'connected_gene': 'ENSG00000272054', 'score': 0.37}]
chr2	GH02I037307	37307153	37307197	0.4	[{'connected_gene': 'NDUFAF7', 'score': 15.61}, {'connected_gene': 'RNU6-939P', 'score': 10.95}, {'connected_gene': 'CEBPZ', 'score': 10.84}, {'connected_gene': 'PRKD3', 'score': 6.18}, {'connected_gene': 'GC02M037305', 'score': 0.77}, {'connected_gene': 'PIR41480', 'score': 0.22}]
chr2	GH02I037456	37456242	37458243	0.89	[{'connected_gene': 'NDUFAF7', 'score': 6.08}, {'connected_gene': 'LOC105374464', 'score': 0.77}, {'connected_gene': 'GC02P037427', 'score': 0.29}, {'connected_gene': 'GC02M037562', 'score': 0.14}]
chr2	GH02I037458	37458801	37461610	1.28	[{'connected_gene': 'NDUFAF7', 'score': 6.13}, {'connected_gene': 'LOC105374464', 'score': 0.44}, {'connected_gene': 'GC02P037427', 'score': 0.28}, {'connected_gene': 'GC02M037562', 'score': 0.15}]
chr2	GH02I037168	37168201	37168607	0.91	[{'connected_gene': 'NDUFAF7', 'score': 14.53}, {'connected_gene': 'CEBPZOS', 'score': 10.73}, {'connected_gene': 'EIF2AK2', 'score': 5.73}, {'connected_gene': 'SULT6B1', 'score': 5.25}, {'connected_gene': 'RPL31P16', 'score': 0.31}]
chr2	GH02I037215	37215341	37215848	0.56	[{'connected_gene': 'NDUFAF7', 'score': 5.27}, {'connected_gene': 'ENSG00000272054', 'score': 0.44}, {'connected_gene': 'CEBPZOS', 'score': 0.37}, {'connected_gene': 'CEBPZ', 'score': 0.37}]
chr2	GH02I037342	37342655	37345401	2.05	[{'connected_gene': 'QPCT', 'score': 550.77}, {'connected_gene': 'CEBPZOS', 'score': 20.97}, {'connected_gene': 'CEBPZ', 'score': 15.64}, {'connected_gene': 'EIF2AK2', 'score': 5.19}, {'connected_gene': 'NDUFAF7', 'score': 5.14}, {'connected_gene': 'PRKD3', 'score': 5.09}, {'connected_gene': 'GC02M037332', 'score': 0.39}, {'connected_gene': 'RNU6-939P', 'score': 0.39}]
chr2	GH02I037448	37448368	37450855	0.57	[{'connected_gene': 'PRKD3', 'score': 4.53}, {'connected_gene': 'NDUFAF7', 'score': 4.45}, {'connected_gene': 'LOC105374464', 'score': 0.44}, {'connected_gene': 'RNU6-1116P', 'score': 0.39}, {'connected_gene': 'GC02P037427', 'score': 0.31}]
chr2	GH02I037322	37322993	37327340	1.68	[{'connected_gene': 'PRKD3', 'score': 556.84}, {'connected_gene': 'LOC101929542', 'score': 550.77}, {'connected_gene': 'CEBPZ', 'score': 17.66}, {'connected_gene': 'NDUFAF7', 'score': 5.14}, {'connected_gene': 'CEBPZOS', 'score': 4.43}, {'connected_gene': 'GC02M037332', 'score': 0.44}, {'connected_gene': 'RNU6-939P', 'score': 0.44}]
chr2	GH02I037270	37270349	37270512	0.24	[{'connected_gene': 'PRKD3', 'score': 17.51}, {'connected_gene': 'CEBPZ', 'score': 11.61}, {'connected_gene': 'NDUFAF7', 'score': 11.61}, {'connected_gene': 'LOC101929542', 'score': 10.79}, {'connected_gene': 'HEATR5B', 'score': 1.38}, {'connected_gene': 'PIR41480', 'score': 0.34}, {'connected_gene': 'GC02M037305', 'score': 0.28}]
chr2	GH02I037302	37302807	37304606	0.31	[{'connected_gene': 'PRKD3', 'score': 17.24}, {'connected_gene': 'CEBPZOS', 'score': 16.12}, {'connected_gene': 'CEBPZ', 'score': 15.98}, {'connected_gene': 'NDUFAF7', 'score': 15.61}, {'connected_gene': 'RNU6-939P', 'score': 11.38}, {'connected_gene': 'LOC101929542', 'score': 11.34}, {'connected_gene': 'GC02M037305', 'score': 0.44}, {'connected_gene': 'PIR41480', 'score': 0.23}]
chr2	GH02I037306	37306098	37306247	0.8	[{'connected_gene': 'RNU6-939P', 'score': 10.93}, {'connected_gene': 'CEBPZ', 'score': 10.85}, {'connected_gene': 'NDUFAF7', 'score': 10.85}, {'connected_gene': 'GC02M037305', 'score': 0.77}, {'connected_gene': 'PRKD3', 'score': 0.37}, {'connected_gene': 'PIR41480', 'score': 0.22}]
chr2	GH02I037454	37454360	37455994	0.43	[{'connected_gene': 'LOC105374464', 'score': 550.77}, {'connected_gene': 'NDUFAF7', 'score': 5.68}, {'connected_gene': 'GC02P037427', 'score': 0.29}, {'connected_gene': 'GC02M037562', 'score': 0.14}]
chr2	GH02I037361	37361478	37361627	0.2	[{'connected_gene': 'LOC101929542', 'score': 11.98}, {'connected_gene': 'PRKD3', 'score': 11.98}, {'connected_gene': 'RNU6-939P', 'score': 11.56}, {'connected_gene': 'CEBPZ', 'score': 10.12}, {'connected_gene': 'NDUFAF7', 'score': 10.12}, {'connected_gene': 'QPCT', 'score': 0.37}, {'connected_gene': 'GC02P037427', 'score': 0.21}]
chr2	GH02I037351	37351158	37351307	0.86	[{'connected_gene': 'LOC101929542', 'score': 11.92}, {'connected_gene': 'PRKD3', 'score': 11.92}, {'connected_gene': 'CEBPZOS', 'score': 9.5}, {'connected_gene': 'NDUFAF7', 'score': 5.13}, {'connected_gene': 'QPCT', 'score': 0.44}, {'connected_gene': 'GC02P037427', 'score': 0.19}]
chr2	GH02I037125	37125151	37126044	0.2	[{'connected_gene': 'CEBPZ', 'score': 15.47}, {'connected_gene': 'NDUFAF7', 'score': 11.15}, {'connected_gene': 'HEATR5B', 'score': 5.04}, {'connected_gene': 'ENSG00000224891', 'score': 0.34}, {'connected_gene': 'EIF2AK2', 'score': 0.29}, {'connected_gene': 'GPATCH11', 'score': 0.26}]
chr2	GH02I037068	37068432	37069111	0.2	[{'connected_gene': 'CEBPZ', 'score': 10.9}, {'connected_gene': 'NDUFAF7', 'score': 10.9}, {'connected_gene': 'HEATR5B', 'score': 4.97}, {'connected_gene': 'GC02M036982', 'score': 0.18}]
chr2	GH02I037230	37230000	37233216	2.05	[{'connected_gene': 'CEBPZ', 'score': 560.97}, {'connected_gene': 'NDUFAF7', 'score': 555.54}, {'connected_gene': 'ENSG00000272054', 'score': 20.76}, {'connected_gene': 'CEBPZOS', 'score': 19.65}, {'connected_gene': 'HEATR5B', 'score': 10.99}]
chr2	GH02I037089	37089677	37092335	0.96	[{'connected_gene': 'CEBPZ', 'score': 15.01}, {'connected_gene': 'NDUFAF7', 'score': 10.59}, {'connected_gene': 'CEBPZOS', 'score': 6.88}, {'connected_gene': 'GPATCH11', 'score': 6.52}, {'connected_gene': 'STRN', 'score': 5.74}, {'connected_gene': 'HEATR5B', 'score': 5.42}, {'connected_gene': 'ENSG00000224891', 'score': 0.22}]
chr2	GH02I037201	37201378	37202236	0.49	[{'connected_gene': 'CEBPZOS', 'score': 18.3}, {'connected_gene': 'NDUFAF7', 'score': 16.42}, {'connected_gene': 'CEBPZ', 'score': 11.91}, {'connected_gene': 'EIF2AK2', 'score': 11.59}, {'connected_gene': 'SULT6B1', 'score': 0.44}, {'connected_gene': 'ENSG00000272054', 'score': 0.44}]
chr2	GH02I037195	37195878	37200901	1.71	[{'connected_gene': 'CEBPZOS', 'score': 571.35}, {'connected_gene': 'SULT6B1', 'score': 550.77}, {'connected_gene': 'CEBPZ', 'score': 20.63}, {'connected_gene': 'NDUFAF7', 'score': 16.46}, {'connected_gene': 'EIF2AK2', 'score': 11.59}, {'connected_gene': 'ENSG00000272054', 'score': 0.39}]
chr2	GH02I037349	37349132	37350287	1.39	[{'connected_gene': 'CEBPZOS', 'score': 14.61}, {'connected_gene': 'PRKD3', 'score': 13.32}, {'connected_gene': 'LOC101929542', 'score': 11.94}, {'connected_gene': 'NDUFAF7', 'score': 5.13}, {'connected_gene': 'HEATR5B', 'score': 3.41}, {'connected_gene': 'STRN', 'score': 2.11}, {'connected_gene': 'QPCT', 'score': 2.07}, {'connected_gene': 'GC02P037427', 'score': 0.19}]
chr2	GH02I037282	37282852	37284144	0.43	[{'connected_gene': 'CEBPZOS', 'score': 13.39}, {'connected_gene': 'RNU6-939P', 'score': 10.47}, {'connected_gene': 'CEBPZ', 'score': 10.38}, {'connected_gene': 'PRKD3', 'score': 7.95}, {'connected_gene': 'NDUFAF7', 'score': 5.0}, {'connected_gene': 'GC02M037305', 'score': 0.31}, {'connected_gene': 'PIR41480', 'score': 0.29}]
chr2	GH02I037204	37204126	37207741	0.77	[{'connected_gene': 'CEBPZOS', 'score': 21.12}, {'connected_gene': 'CEBPZ', 'score': 18.77}, {'connected_gene': 'NDUFAF7', 'score': 17.36}, {'connected_gene': 'EIF2AK2', 'score': 11.58}, {'connected_gene': 'ENSG00000272054', 'score': 0.77}, {'connected_gene': 'SULT6B1', 'score': 0.44}]
chr2	GH02I037226	37226007	37228764	0.38	[{'connected_gene': 'CEBPZOS', 'score': 27.15}, {'connected_gene': 'CEBPZ', 'score': 0.77}, {'connected_gene': 'NDUFAF7', 'score': 0.77}, {'connected_gene': 'ENSG00000272054', 'score': 0.37}]
chr2	GH02I037330	37330910	37339199	0.6	[{'connected_gene': 'CEBPZOS', 'score': 17.75}, {'connected_gene': 'CEBPZ', 'score': 8.59}, {'connected_gene': 'PRKD3', 'score': 6.24}, {'connected_gene': 'NDUFAF7', 'score': 5.5}, {'connected_gene': 'GC02M037332', 'score': 0.77}, {'connected_gene': 'RNU6-939P', 'score': 0.77}, {'connected_gene': 'QPCT', 'score': 0.44}]
chr2	GH02I037149	37149354	37150519	0.56	[{'connected_gene': 'ENSG00000224891', 'score': 550.77}, {'connected_gene': 'RPL31P16', 'score': 10.95}, {'connected_gene': 'CEBPZOS', 'score': 10.94}, {'connected_gene': 'SULT6B1', 'score': 10.94}, {'connected_gene': 'CEBPZ', 'score': 10.76}, {'connected_gene': 'NDUFAF7', 'score': 10.76}, {'connected_gene': 'EIF2AK2', 'score': 10.68}, {'connected_gene': 'STRN', 'score': 9.6}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000455230	[[37458773, 37458903], [37459248, 37459409], [37463238, 37463319], [37464899, 37464978], [37468720, 37468780], [37469777, 37469836], [37471005, 37471116], [37473194, 37473338], [37474598, 37474719]]	[[37458848, 37458903], [37459248, 37459409], [37463238, 37463319], [37464899, 37464978], [37468720, 37468758]]
ENST00000474154	[[37458805, 37458903], [37459248, 37459409], [37463238, 37463319], [37464899, 37465010], [37468720, 37469836], [37471053, 37471116], [37473194, 37473338], [37474598, 37474772], [37475277, 37476303]]	None
ENST00000002125	[[37458808, 37458903], [37459248, 37459409], [37463238, 37463319], [37464899, 37465010], [37468720, 37468934], [37469777, 37469836], [37471005, 37471116], [37473194, 37473338], [37474598, 37474772], [37475277, 37476303]]	[[37458848, 37458903], [37459248, 37459409], [37463238, 37463319], [37464899, 37465010], [37468720, 37468934], [37469777, 37469836], [37471005, 37471116], [37473194, 37473338], [37474598, 37474772], [37475277, 37475493]]
ENST00000336237	[[37458821, 37458903], [37459248, 37459409], [37464899, 37465010], [37468720, 37468780], [37471005, 37471116], [37473194, 37473338], [37474598, 37474772], [37475277, 37476303]]	[[37458848, 37458903], [37459248, 37459409], [37464899, 37465010], [37468720, 37468780], [37471005, 37471116], [37473194, 37473338], [37474598, 37474772], [37475277, 37475493]]
ENST00000431821	[[37458831, 37458903], [37463238, 37463319], [37464899, 37465010], [37468720, 37468934], [37469777, 37469836], [37471005, 37471116], [37473194, 37473329]]	[[37463259, 37463319], [37464899, 37465010], [37468720, 37468934], [37469777, 37469836], [37471005, 37471116], [37473194, 37473329]]
ENST00000416653	[[37458909, 37458978], [37459248, 37459409], [37463238, 37463319], [37464899, 37465010], [37468720, 37468771]]	[[37459319, 37459409], [37463238, 37463319], [37464899, 37465010], [37468720, 37468771]]
ENST00000469831	[[37458909, 37459022], [37459248, 37459409], [37463238, 37463319], [37464899, 37465010], [37468720, 37469099]]	None
ENST00000483999	[[37458918, 37459022], [37464899, 37464978], [37468720, 37468934], [37469777, 37469836], [37471005, 37471116], [37473194, 37473338]]	None
ENST00000439218	[[37458962, 37459022], [37459248, 37459409], [37463238, 37463319], [37464899, 37465010], [37468720, 37468934], [37469777, 37469836], [37471005, 37471116], [37473194, 37473331]]	[[37459319, 37459409], [37463238, 37463319], [37464899, 37465010], [37468720, 37468934], [37469777, 37469836], [37471005, 37471116], [37473194, 37473331]]
ENST00000432075	[[37458984, 37459132], [37459248, 37459409], [37463238, 37463319], [37464899, 37465010], [37468720, 37468882]]	[[37459319, 37459409], [37463238, 37463319], [37464899, 37465010], [37468720, 37468882]]
ENST00000474257	[[37469081, 37469836], [37471005, 37471116], [37473194, 37473338], [37474598, 37474772], [37475277, 37475563]]	None
ENST00000419278	[[37471063, 37471116], [37473194, 37473338], [37474455, 37474511], [37474598, 37474772], [37475277, 37475530]]	None
ENST00000441905	[[37474598, 37474772], [37475400, 37475569], [37480228, 37480546]]	[[37474598, 37474772], [37475400, 37475493]]
NM_001083946	[[37458773, 37458903], [37459248, 37459409], [37464899, 37465010], [37468720, 37468780], [37471005, 37471116], [37473194, 37473338], [37474598, 37474772], [37475277, 37476303]]	[[37458848, 37458903], [37459248, 37459409], [37464899, 37465010], [37468720, 37468780], [37471005, 37471116], [37473194, 37473338], [37474598, 37474772], [37475277, 37475493]]
NM_144736	[[37458773, 37458903], [37459248, 37459409], [37463238, 37463319], [37464899, 37465010], [37468720, 37468934], [37469777, 37469836], [37471005, 37471116], [37473194, 37473338], [37474598, 37474772], [37475277, 37476303]]	[[37458848, 37458903], [37459248, 37459409], [37463238, 37463319], [37464899, 37465010], [37468720, 37468934], [37469777, 37469836], [37471005, 37471116], [37473194, 37473338], [37474598, 37474772], [37475277, 37475493]]