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
ENST00000462832	[[29005382, 29005729], [29006772, 29006844], [29011523, 29011675], [29016728, 29016863], [29022064, 29022165], [29037478, 29037552], [29038862, 29039115], [29041913, 29041972], [29045190, 29045276], [29052013, 29052185], [29063037, 29063667]]	None
ENST00000379579	[[29033684, 29033813], [29038862, 29039115], [29041913, 29041972], [29045190, 29045276], [29052013, 29052185], [29063037, 29063335], [29072715, 29073477]]	[[29038880, 29039115], [29041913, 29041972], [29045190, 29045276], [29052013, 29052185], [29063037, 29063335], [29072715, 29072807]]
ENST00000491044	[[29033694, 29033813], [29063037, 29063335], [29072715, 29073196]]	None
ENST00000334056	[[29033716, 29033813], [29037478, 29037552], [29038862, 29039115], [29041913, 29041972], [29045190, 29045276], [29052013, 29052185], [29063037, 29063335], [29072715, 29073477]]	[[29038880, 29039115], [29041913, 29041972], [29045190, 29045276], [29052013, 29052185], [29063037, 29063335], [29072715, 29072807]]
ENST00000449210	[[29033773, 29034056], [29037478, 29037552], [29038862, 29039115], [29041913, 29041972], [29045190, 29045279]]	[[29038880, 29039115], [29041913, 29041972], [29045190, 29045279]]
ENST00000439646	[[29052015, 29052185], [29072715, 29073300]]	[[29052015, 29052185], [29072715, 29072718]]
ENST00000467226	[[29063223, 29063335], [29064877, 29065142]]	None
NM_001142634	[[29033699, 29033813], [29038862, 29039115], [29041913, 29041972], [29045190, 29045276], [29052013, 29052185], [29063037, 29063335], [29072715, 29073476]]	[[29038880, 29039115], [29041913, 29041972], [29045190, 29045276], [29052013, 29052185], [29063037, 29063335], [29072715, 29072807]]
NM_182756	[[29033699, 29033813], [29037478, 29037552], [29038862, 29039115], [29041913, 29041972], [29045190, 29045276], [29052013, 29052185], [29063037, 29063335], [29072715, 29073476]]	[[29038880, 29039115], [29041913, 29041972], [29045190, 29045276], [29052013, 29052185], [29063037, 29063335], [29072715, 29072807]]
NM_001008779	[[29038862, 29039115], [29041913, 29041972], [29045190, 29045276], [29052013, 29052185], [29063037, 29063675]]	[[29038880, 29039115], [29041913, 29041972], [29045190, 29045276], [29052013, 29052185], [29063037, 29063346]]

Promoter

Chrom	Start	End	Description
chr2	29005377	29005398	CAGE_peak_2_at_SPDYA_5end
chr2	29033655	29033677	CAGE_peak_3_at_SPDYA_5end
chr2	29033682	29033750	CAGE_peak_1_at_SPDYA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I028705	28705442	28711796	1.07	[{'connected_gene': 'TRMT61B', 'score': 23.28}, {'connected_gene': 'PPP1CB', 'score': 22.26}, {'connected_gene': 'ENSG00000230730', 'score': 11.5}, {'connected_gene': 'SPDYA', 'score': 10.27}, {'connected_gene': 'WDR43', 'score': 7.37}, {'connected_gene': 'RNA5SP89', 'score': 0.34}, {'connected_gene': 'LOC100505774', 'score': 0.26}]
chr2	GH02I028786	28786830	28787036	0.26	[{'connected_gene': 'TRMT61B', 'score': 34.86}, {'connected_gene': 'PPP1CB', 'score': 2.7}, {'connected_gene': 'FOSL2', 'score': 1.77}, {'connected_gene': 'SPDYA', 'score': 0.77}, {'connected_gene': 'ENSG00000273233', 'score': 0.34}]
chr2	GH02I028771	28771201	28771400	0.2	[{'connected_gene': 'TRMT61B', 'score': 28.64}, {'connected_gene': 'ENSG00000230730', 'score': 9.98}, {'connected_gene': 'SPDYA', 'score': 0.39}, {'connected_gene': 'PPP1CB', 'score': 0.37}, {'connected_gene': 'LOC100505774', 'score': 0.37}]
chr2	GH02I028802	28802282	28803998	0.82	[{'connected_gene': 'TRMT61B', 'score': 50.54}, {'connected_gene': 'WDR43', 'score': 16.32}, {'connected_gene': 'PPP1CB', 'score': 12.74}, {'connected_gene': 'SPDYA', 'score': 12.0}, {'connected_gene': 'ENSG00000230730', 'score': 9.91}, {'connected_gene': 'FOSL2', 'score': 4.25}, {'connected_gene': 'ENSG00000273233', 'score': 0.44}]
chr2	GH02I028821	28821401	28821624	0.96	[{'connected_gene': 'TRMT61B', 'score': 46.99}, {'connected_gene': 'TOGARAM2', 'score': 11.28}, {'connected_gene': 'SPDYA', 'score': 10.92}, {'connected_gene': 'WDR43', 'score': 10.8}, {'connected_gene': 'ENSG00000230730', 'score': 9.06}, {'connected_gene': 'ENSG00000273233', 'score': 0.39}]
chr2	GH02I028837	28837582	28837774	0.24	[{'connected_gene': 'PPP1CB', 'score': 2.43}, {'connected_gene': 'ENSG00000273233', 'score': 0.31}, {'connected_gene': 'TRMT61B', 'score': 0.29}, {'connected_gene': 'SPDYA', 'score': 0.22}]
chr2	GH02I028582	28582251	28586023	1.7	[{'connected_gene': 'PPP1CB', 'score': 11.71}, {'connected_gene': 'SPDYA', 'score': 11.56}, {'connected_gene': 'ENSG00000230730', 'score': 10.6}, {'connected_gene': 'FOSL2', 'score': 6.8}, {'connected_gene': 'PLB1', 'score': 0.13}, {'connected_gene': 'SNRPGP7', 'score': 0.13}]
chr2	GH02I028586	28586468	28587411	0.99	[{'connected_gene': 'PPP1CB', 'score': 12.16}, {'connected_gene': 'SPDYA', 'score': 11.56}, {'connected_gene': 'LOC100505774', 'score': 11.27}, {'connected_gene': 'ENSG00000230730', 'score': 11.13}, {'connected_gene': 'SNRPGP7', 'score': 0.13}, {'connected_gene': 'PLB1', 'score': 0.13}]
chr2	GH02I028587	28587654	28587803	0.4	[{'connected_gene': 'PPP1CB', 'score': 12.16}, {'connected_gene': 'SPDYA', 'score': 11.51}, {'connected_gene': 'LOC100505774', 'score': 11.27}, {'connected_gene': 'ENSG00000230730', 'score': 11.13}, {'connected_gene': 'SNRPGP7', 'score': 0.13}, {'connected_gene': 'PLB1', 'score': 0.12}]
chr2	GH02I028588	28587915	28588723	0.94	[{'connected_gene': 'PPP1CB', 'score': 14.67}, {'connected_gene': 'FOSL2', 'score': 13.89}, {'connected_gene': 'SPDYA', 'score': 11.51}, {'connected_gene': 'LOC100505774', 'score': 11.27}, {'connected_gene': 'ENSG00000230730', 'score': 11.13}, {'connected_gene': 'SNRPGP7', 'score': 0.13}, {'connected_gene': 'PLB1', 'score': 0.12}]
chr2	GH02I028542	28542235	28549253	1.59	[{'connected_gene': 'PPP1CB', 'score': 11.03}, {'connected_gene': 'ENSG00000230730', 'score': 10.79}, {'connected_gene': 'PLB1', 'score': 10.05}, {'connected_gene': 'TRMT61B', 'score': 6.0}, {'connected_gene': 'SPDYA', 'score': 1.48}, {'connected_gene': 'WDR43', 'score': 1.4}, {'connected_gene': 'SNRPGP7', 'score': 0.17}]
chr2	GH02I028747	28747490	28756800	2.76	[{'connected_gene': 'PPP1CB', 'score': 565.6}, {'connected_gene': 'LOC100505774', 'score': 550.77}, {'connected_gene': 'TRMT61B', 'score': 42.58}, {'connected_gene': 'TOGARAM2', 'score': 18.81}, {'connected_gene': 'SPDYA', 'score': 12.03}, {'connected_gene': 'ENSG00000230730', 'score': 10.17}, {'connected_gene': 'WDR43', 'score': 5.32}, {'connected_gene': 'FOSL2', 'score': 2.94}]
chr2	GH02I029212	29212443	29212559	0.22	[{'connected_gene': 'SPDYA', 'score': 3.37}, {'connected_gene': 'GC02P029290', 'score': 0.18}, {'connected_gene': 'CLIP4', 'score': 0.14}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2	GH02I028809	28809915	28811344	1.62	[{'connected_gene': 'SPDYA', 'score': 562.1}, {'connected_gene': 'ENSG00000273233', 'score': 550.77}, {'connected_gene': 'TRMT61B', 'score': 11.38}, {'connected_gene': 'TOGARAM2', 'score': 10.65}]
chr2	GH02I028832	28832232	28832477	0.24	[{'connected_gene': 'SPDYA', 'score': 1.9}, {'connected_gene': 'ENSG00000273233', 'score': 0.34}, {'connected_gene': 'TRMT61B', 'score': 0.28}]
chr2	GH02I028758	28758396	28758917	0.31	[{'connected_gene': 'SPDYA', 'score': 12.07}, {'connected_gene': 'ENSG00000230730', 'score': 9.81}, {'connected_gene': 'PLB1', 'score': 4.8}, {'connected_gene': 'PPP1CB', 'score': 0.44}, {'connected_gene': 'LOC100505774', 'score': 0.44}]
chr2	GH02I028609	28609502	28616114	1.63	[{'connected_gene': 'ENSG00000230730', 'score': 33.96}, {'connected_gene': 'SUPT7L', 'score': 19.13}, {'connected_gene': 'PPP1CB', 'score': 16.86}, {'connected_gene': 'LOC100505774', 'score': 11.02}, {'connected_gene': 'SPDYA', 'score': 10.4}, {'connected_gene': 'PLB1', 'score': 8.51}, {'connected_gene': 'TRMT61B', 'score': 2.6}, {'connected_gene': 'SNRPGP7', 'score': 0.1}]
chr2	GH02I028711	28711835	28711984	0.79	[{'connected_gene': 'ENSG00000230730', 'score': 11.49}, {'connected_gene': 'PPP1CB', 'score': 10.66}, {'connected_gene': 'SPDYA', 'score': 10.27}, {'connected_gene': 'RNA5SP89', 'score': 0.31}, {'connected_gene': 'LOC100505774', 'score': 0.28}]
chr2	GH02I028593	28593655	28597463	1.36	[{'connected_gene': 'ENSG00000230730', 'score': 34.3}, {'connected_gene': 'PPP1CB', 'score': 12.17}, {'connected_gene': 'SPDYA', 'score': 11.51}, {'connected_gene': 'LOC100505774', 'score': 11.28}, {'connected_gene': 'PLB1', 'score': 8.46}, {'connected_gene': 'C2orf71', 'score': 5.15}, {'connected_gene': 'SNRPGP7', 'score': 0.12}]