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
ENST00000502903	[[103228713, 103228762], [103236824, 103236987], [103306506, 103306667], [103352218, 103352415]]	None
ENST00000424970	[[103172197, 103174587], [103180611, 103180671], [103184317, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103265600, 103266072], [103266299, 103266362]]	[[103174578, 103174587], [103180611, 103180671], [103184317, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103265600, 103265819]]
ENST00000394833	[[103182822, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103265600, 103266296]]	[[103184200, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103265600, 103265819]]
ENST00000356736	[[103182822, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103265600, 103266072], [103266501, 103266631]]	[[103184200, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103265600, 103265819]]
ENST00000512337	[[103190872, 103190951], [103225473, 103225645]]	None
ENST00000510255	[[103225563, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103274010, 103274157]]	None
ENST00000514000	[[103225604, 103225638], [103226145, 103226268], [103236824, 103236987], [103266501, 103266594]]	None
ENST00000512657	[[103226181, 103226268], [103228592, 103228762], [103236824, 103236987], [103266501, 103266639]]	None
NM_001135147	[[103172197, 103174587], [103180611, 103180671], [103184317, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103265600, 103266072], [103266299, 103266410]]	[[103174578, 103174587], [103180611, 103180671], [103184317, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103265600, 103265819]]
NM_001135148	[[103182820, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103245406, 103245469]]	[[103184200, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103245406, 103245424]]
NM_022154	[[103182820, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103265600, 103266348]]	[[103184200, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103265600, 103265819]]
NM_001135146	[[103182820, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103265600, 103266072], [103266501, 103266655]]	[[103184200, 103184350], [103188646, 103188831], [103189028, 103189236], [103225473, 103225638], [103226145, 103226268], [103228592, 103228762], [103236824, 103236987], [103265600, 103265819]]

Promoter

Chrom	Start	End	Description
chr4	103265698	103265709	CAGE_peak_16_at_SLC39A8_5end
chr4	103265816	103265875	CAGE_peak_3_at_SLC39A8_5end
chr4	103265880	103265893	CAGE_peak_4_at_SLC39A8_5end
chr4	103265976	103265993	CAGE_peak_11_at_SLC39A8_5end
chr4	103266004	103266021	CAGE_peak_8_at_SLC39A8_5end
chr4	103266043	103266060	CAGE_peak_12_at_SLC39A8_5end
chr4	103266068	103266091	CAGE_peak_10_at_SLC39A8_5end
chr4	103266101	103266106	CAGE_peak_20_at_SLC39A8_5end
chr4	103266129	103266186	CAGE_peak_2_at_SLC39A8_5end
chr4	103266193	103266210	CAGE_peak_7_at_SLC39A8_5end
chr4	103266219	103266240	CAGE_peak_9_at_SLC39A8_5end
chr4	103266355	103266371	CAGE_peak_6_at_SLC39A8_5end
chr4	103266422	103266430	CAGE_peak_19_at_SLC39A8_5end
chr4	103266626	103266647	CAGE_peak_1_at_SLC39A8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I102429	102429002	102432153	1.42	[{'connected_gene': 'SLC39A8', 'score': 550.77}, {'connected_gene': 'BDH2', 'score': 4.06}, {'connected_gene': 'ENSG00000248161', 'score': 0.37}, {'connected_gene': 'LOC105377621', 'score': 0.19}, {'connected_gene': 'RN7SL728P', 'score': 0.18}]
chr4	GH04I102403	102403001	102403800	0.5	[{'connected_gene': 'SLC39A8', 'score': 31.43}, {'connected_gene': 'NFKB1', 'score': 25.67}, {'connected_gene': 'UBE2D3', 'score': 6.41}, {'connected_gene': 'MANBA', 'score': 4.79}, {'connected_gene': 'RN7SL728P', 'score': 0.23}]
chr4	GH04I102411	102411266	102411823	0.61	[{'connected_gene': 'SLC39A8', 'score': 25.06}, {'connected_gene': 'NFKB1', 'score': 22.43}, {'connected_gene': 'SLC9B1', 'score': 10.49}, {'connected_gene': 'UBE2D3', 'score': 6.76}, {'connected_gene': 'MANBA', 'score': 4.88}, {'connected_gene': 'RN7SL728P', 'score': 0.21}]
chr4	GH04I102343	102343059	102346430	2.06	[{'connected_gene': 'SLC39A8', 'score': 557.12}, {'connected_gene': 'SLC9B1', 'score': 12.0}, {'connected_gene': 'UBE2D3', 'score': 10.73}, {'connected_gene': 'NFKB1', 'score': 10.55}, {'connected_gene': 'RN7SL728P', 'score': 0.77}, {'connected_gene': 'GC04M102262', 'score': 0.18}]
chr4	GH04I102420	102420222	102420274	0.22	[{'connected_gene': 'SLC39A8', 'score': 1.64}, {'connected_gene': 'ENSG00000248161', 'score': 0.31}, {'connected_gene': 'RN7SL728P', 'score': 0.19}, {'connected_gene': 'LOC105377621', 'score': 0.18}]
chr4	GH04I102342	102342804	102342973	0.78	[{'connected_gene': 'SLC39A8', 'score': 7.12}, {'connected_gene': 'RN7SL728P', 'score': 0.44}, {'connected_gene': 'GC04M102262', 'score': 0.18}]
chr4	GH04I102390	102390001	102390801	0.88	[{'connected_gene': 'SLC39A8', 'score': 0.26}, {'connected_gene': 'RN7SL728P', 'score': 0.26}]
chr4	GH04I102321	102321360	102322361	0.63	[{'connected_gene': 'SLC39A8', 'score': 5.87}, {'connected_gene': 'RN7SL728P', 'score': 0.31}, {'connected_gene': 'GC04M102262', 'score': 0.22}]
chr4	GH04I102564	102564001	102564801	1.5	[{'connected_gene': 'NFKB1', 'score': 30.47}, {'connected_gene': 'SLC39A8', 'score': 14.7}, {'connected_gene': 'ENSG00000260651', 'score': 6.66}, {'connected_gene': 'UBE2D3', 'score': 6.54}, {'connected_gene': 'MANBA', 'score': 6.2}, {'connected_gene': 'SLC9B1', 'score': 2.42}, {'connected_gene': 'LOC105377347', 'score': 0.23}, {'connected_gene': 'LOC105377621', 'score': 0.21}]
chr4	GH04I102562	102562807	102563492	0.46	[{'connected_gene': 'NFKB1', 'score': 50.42}, {'connected_gene': 'SLC39A8', 'score': 15.09}, {'connected_gene': 'UBE2D3', 'score': 8.57}, {'connected_gene': 'MANBA', 'score': 8.18}, {'connected_gene': 'ENSG00000260651', 'score': 7.58}, {'connected_gene': 'SLC9B1', 'score': 3.16}, {'connected_gene': 'LOC105377347', 'score': 0.23}, {'connected_gene': 'LOC105377621', 'score': 0.21}]
chr4	GH04I102399	102399122	102399300	0.26	[{'connected_gene': 'NFKB1', 'score': 18.84}, {'connected_gene': 'SLC39A8', 'score': 17.99}, {'connected_gene': 'UBE2D3', 'score': 7.52}, {'connected_gene': 'MANBA', 'score': 5.54}, {'connected_gene': 'RN7SL728P', 'score': 0.23}]
chr4	GH04I102437	102437964	102440462	1.33	[{'connected_gene': 'NFKB1', 'score': 29.01}, {'connected_gene': 'SLC39A8', 'score': 21.48}, {'connected_gene': 'SLC9B1', 'score': 10.83}, {'connected_gene': 'UBE2D3', 'score': 5.97}, {'connected_gene': 'MANBA', 'score': 5.24}, {'connected_gene': 'ENSG00000248161', 'score': 5.05}, {'connected_gene': 'LOC105377621', 'score': 0.21}]
chr4	GH04I102683	102683553	102685739	1.52	[{'connected_gene': 'NFKB1', 'score': 30.49}, {'connected_gene': 'MANBA', 'score': 27.06}, {'connected_gene': 'SLC39A8', 'score': 24.84}, {'connected_gene': 'UBE2D3', 'score': 6.34}, {'connected_gene': 'BDH2', 'score': 5.01}, {'connected_gene': 'SLC9B1', 'score': 2.14}, {'connected_gene': 'GC04P102663', 'score': 0.34}, {'connected_gene': 'GC04M102729', 'score': 0.25}]
chr4	GH04I102686	102686986	102688874	1.47	[{'connected_gene': 'NFKB1', 'score': 29.14}, {'connected_gene': 'MANBA', 'score': 25.75}, {'connected_gene': 'SLC39A8', 'score': 23.93}, {'connected_gene': 'UBE2D3', 'score': 5.86}, {'connected_gene': 'SLC9B1', 'score': 2.27}, {'connected_gene': 'GC04P102663', 'score': 0.31}, {'connected_gene': 'GC04M102729', 'score': 0.26}]
chr4	GH04I102627	102627239	102628814	1.12	[{'connected_gene': 'NFKB1', 'score': 20.59}, {'connected_gene': 'SLC9B1', 'score': 12.81}, {'connected_gene': 'SLC39A8', 'score': 12.28}, {'connected_gene': 'UBE2D3', 'score': 4.8}, {'connected_gene': 'MANBA', 'score': 4.6}, {'connected_gene': 'LOC105377347', 'score': 0.39}, {'connected_gene': 'RPL21P49', 'score': 0.29}]
chr4	GH04I102610	102610738	102615672	0.95	[{'connected_gene': 'NFKB1', 'score': 14.01}, {'connected_gene': 'SLC9B1', 'score': 13.76}, {'connected_gene': 'BDH2', 'score': 6.5}, {'connected_gene': 'MANBA', 'score': 5.99}, {'connected_gene': 'KRT8P46', 'score': 5.51}, {'connected_gene': 'ENSG00000260651', 'score': 4.26}, {'connected_gene': 'UBE2D3', 'score': 3.31}, {'connected_gene': 'SLC39A8', 'score': 1.19}, {'connected_gene': 'LOC105377347', 'score': 0.77}, {'connected_gene': 'LOC105377621', 'score': 0.14}]
chr4	GH04I102596	102596851	102600664	0.98	[{'connected_gene': 'NFKB1', 'score': 23.48}, {'connected_gene': 'SLC9B2', 'score': 10.49}, {'connected_gene': 'SLC39A8', 'score': 6.84}, {'connected_gene': 'ENSG00000260651', 'score': 6.01}, {'connected_gene': 'MANBA', 'score': 4.65}, {'connected_gene': 'BDH2', 'score': 4.52}, {'connected_gene': 'UBE2D3', 'score': 3.91}, {'connected_gene': 'SLC9B1', 'score': 2.97}, {'connected_gene': 'LOC105377347', 'score': 0.37}, {'connected_gene': 'LOC105377621', 'score': 0.15}]
chr4	GH04I102517	102517924	102519593	0.78	[{'connected_gene': 'MANBA', 'score': 6.99}, {'connected_gene': 'ENSG00000260651', 'score': 6.34}, {'connected_gene': 'BDH2', 'score': 5.78}, {'connected_gene': 'NFKB1', 'score': 5.01}, {'connected_gene': 'UBE2D3', 'score': 3.94}, {'connected_gene': 'SLC39A8', 'score': 1.69}, {'connected_gene': 'LOC105377621', 'score': 0.37}, {'connected_gene': 'LOC105377347', 'score': 0.15}]
chr4	GH04I102758	102758805	102759155	0.57	[{'connected_gene': 'MANBA', 'score': 12.01}, {'connected_gene': 'NFKB1', 'score': 7.29}, {'connected_gene': 'UBE2D3', 'score': 6.23}, {'connected_gene': 'SLC9B2', 'score': 4.71}, {'connected_gene': 'SLC39A8', 'score': 2.62}, {'connected_gene': 'SLC9B1', 'score': 1.58}, {'connected_gene': 'LOC100419096', 'score': 0.44}]
chr4	GH04I102319	102319338	102320160	0.43	[{'connected_gene': 'RN7SL728P', 'score': 0.31}, {'connected_gene': 'GC04M102262', 'score': 0.22}, {'connected_gene': 'SLC39A8', 'score': 0.14}]
chr4	GH04I102339	102339184	102339333	0.31	[{'connected_gene': 'RN7SL728P', 'score': 0.44}, {'connected_gene': 'GC04M102262', 'score': 0.18}, {'connected_gene': 'SLC39A8', 'score': 0.16}]
chr4	GH04I102444	102444270	102444654	0.22	[{'connected_gene': 'ENSG00000248161', 'score': 0.44}, {'connected_gene': 'SLC39A8', 'score': 0.39}, {'connected_gene': 'LOC105377621', 'score': 0.22}]
chr4	GH04I102449	102449884	102450033	0.64	[{'connected_gene': 'ENSG00000248161', 'score': 550.77}, {'connected_gene': 'SLC39A8', 'score': 0.37}, {'connected_gene': 'LOC105377621', 'score': 0.23}]
chr4	GH04I102257	102257864	102258013	0.8	[{'connected_gene': 'GC04M102262', 'score': 0.77}, {'connected_gene': 'SLC39A8', 'score': 0.09}, {'connected_gene': 'ENSG00000251309', 'score': 0.07}]
chr4	GH04I102733	102733525	102735821	1.38	[{'connected_gene': 'GC04P102735', 'score': 550.77}, {'connected_gene': 'LOC100288914', 'score': 550.77}, {'connected_gene': 'MANBA', 'score': 29.45}, {'connected_gene': 'NFKB1', 'score': 7.11}, {'connected_gene': 'SLC39A8', 'score': 4.7}, {'connected_gene': 'SLC9B2', 'score': 4.64}, {'connected_gene': 'UBE2D3', 'score': 2.99}, {'connected_gene': 'SLC9B1', 'score': 2.64}, {'connected_gene': 'PIR57038', 'score': 0.39}]