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
ENST00000407426	[[29117508, 29117789], [29124852, 29124990], [29129325, 29129447], [29135455, 29135576], [29136934, 29137074], [29140758, 29140861], [29145784, 29145849], [29147847, 29148019], [29149333, 29149420], [29150434, 29150566], [29152444, 29152576], [29158386, 29158473], [29159787, 29159819], [29160796, 29160860], [29164326, 29164440], [29165177, 29165247], [29169315, 29169365], [29169465, 29171088]]	[[29117564, 29117789], [29124852, 29124990], [29129325, 29129447], [29135455, 29135576], [29136934, 29137074], [29140758, 29140861], [29145784, 29145849], [29147847, 29148019], [29149333, 29149420], [29150434, 29150566], [29152444, 29152576], [29158386, 29158473], [29159787, 29159819], [29160796, 29160860], [29164326, 29164440], [29165177, 29165247], [29169315, 29169365], [29169465, 29169645]]
ENST00000434238	[[29117951, 29118219], [29124852, 29124970]]	[[29124894, 29124970]]
ENST00000440983	[[29118669, 29118727], [29124852, 29124990], [29129325, 29129447], [29135455, 29135576], [29136934, 29137036]]	[[29124894, 29124990], [29129325, 29129447], [29135455, 29135576], [29136934, 29137036]]
ENST00000296126	[[29127871, 29127917], [29129325, 29129447], [29135455, 29135576], [29136934, 29137074], [29140758, 29140861], [29145784, 29145849], [29147847, 29148019], [29149333, 29149351]]	[[29135513, 29135576], [29136934, 29137074], [29140758, 29140861], [29145784, 29145849], [29147847, 29148019], [29149333, 29149351]]
ENST00000466067	[[29147962, 29148019], [29149333, 29149420], [29150434, 29150566], [29152444, 29152576], [29158386, 29158606]]	None
ENST00000446643	[[29152923, 29153015], [29158386, 29158473], [29159787, 29159819], [29160796, 29160860], [29164326, 29164440], [29165177, 29165247], [29169315, 29169365], [29169465, 29169535]]	[[29152923, 29153015], [29158386, 29158473], [29159787, 29159819], [29160796, 29160860], [29164326, 29164440], [29165177, 29165247], [29169315, 29169365], [29169465, 29169535]]
NM_015131	[[29117508, 29117789], [29124852, 29124990], [29129325, 29129447], [29135455, 29135576], [29136934, 29137074], [29140758, 29140861], [29145784, 29145849], [29147847, 29148019], [29149333, 29149420], [29150434, 29150566], [29152444, 29152576], [29158386, 29158473], [29159787, 29159819], [29160796, 29160860], [29164326, 29164440], [29165177, 29165247], [29169315, 29169365], [29169465, 29171086]]	[[29117564, 29117789], [29124852, 29124990], [29129325, 29129447], [29135455, 29135576], [29136934, 29137074], [29140758, 29140861], [29145784, 29145849], [29147847, 29148019], [29149333, 29149420], [29150434, 29150566], [29152444, 29152576], [29158386, 29158473], [29159787, 29159819], [29160796, 29160860], [29164326, 29164440], [29165177, 29165247], [29169315, 29169365], [29169465, 29169645]]

Promoter

Chrom	Start	End	Description
chr2	29117521	29117569	CAGE_peak_1_at_WDR43_5end
chr2	29164320	29164359	CAGE_peak_2_at_WDR43_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I028364	28364807	28368220	1.65	[{'connected_gene': 'SNX17', 'score': 23.79}, {'connected_gene': 'NRBP1', 'score': 22.92}, {'connected_gene': 'GPN1', 'score': 15.83}, {'connected_gene': 'FOSL2', 'score': 14.81}, {'connected_gene': 'EIF2B4', 'score': 14.33}, {'connected_gene': 'ZNF513', 'score': 12.8}, {'connected_gene': 'FLJ31356', 'score': 12.39}, {'connected_gene': 'PPM1G', 'score': 11.76}, {'connected_gene': 'WDR43', 'score': 10.34}, {'connected_gene': 'LOC105374382', 'score': 0.44}, {'connected_gene': 'LOC105374383', 'score': 0.39}]
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	GH02I028713	28713273	28718709	1.68	[{'connected_gene': 'TRMT61B', 'score': 23.45}, {'connected_gene': 'FOSL2', 'score': 16.24}, {'connected_gene': 'PPP1CB', 'score': 14.74}, {'connected_gene': 'ENSG00000230730', 'score': 11.45}, {'connected_gene': 'WDR43', 'score': 5.08}, {'connected_gene': 'RNA5SP89', 'score': 0.29}, {'connected_gene': 'LOC100505774', 'score': 0.28}]
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	GH02I028904	28904415	28904604	0.54	[{'connected_gene': 'TRMT61B', 'score': 11.43}, {'connected_gene': 'WDR43', 'score': 0.44}, {'connected_gene': 'GC02P028913', '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	GH02I028868	28868991	28871208	2.08	[{'connected_gene': 'TRMT61B', 'score': 594.23}, {'connected_gene': 'TOGARAM2', 'score': 21.89}, {'connected_gene': 'WDR43', 'score': 19.17}, {'connected_gene': 'FOSL2', 'score': 10.67}, {'connected_gene': 'FLJ31356', 'score': 10.24}, {'connected_gene': 'ENSG00000273233', 'score': 0.22}]
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	GH02I027915	27915889	27917479	0.84	[{'connected_gene': 'GTF3C2', 'score': 20.49}, {'connected_gene': 'CAD', 'score': 15.61}, {'connected_gene': 'SNX17', 'score': 14.36}, {'connected_gene': 'LOC105374363', 'score': 14.34}, {'connected_gene': 'NRBP1', 'score': 13.61}, {'connected_gene': 'TMEM214', 'score': 13.02}, {'connected_gene': 'GPN1', 'score': 12.46}, {'connected_gene': 'EIF2B4', 'score': 12.04}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.64}, {'connected_gene': 'WDR43', 'score': 9.8}, {'connected_gene': 'FNDC4', 'score': 5.26}, {'connected_gene': 'LOC100420770', 'score': 0.37}, {'connected_gene': 'LOC105374369', 'score': 0.31}, {'connected_gene': 'BABAM2', 'score': 0.31}, {'connected_gene': 'MRPL33', 'score': 0.11}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2	GH02I028358	28358369	28362339	1.75	[{'connected_gene': 'FOSL2', 'score': 41.17}, {'connected_gene': 'EIF2B4', 'score': 14.21}, {'connected_gene': 'LOC100505716', 'score': 13.18}, {'connected_gene': 'FLJ31356', 'score': 12.37}, {'connected_gene': 'TRMT61B', 'score': 11.48}, {'connected_gene': 'WDR43', 'score': 10.96}, {'connected_gene': 'GPN1', 'score': 10.93}, {'connected_gene': 'RBKS', 'score': 10.71}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'PPP1CB', 'score': 2.92}, {'connected_gene': 'LOC105374382', 'score': 0.77}, {'connected_gene': 'LOC105374383', 'score': 0.37}]
chr2	GH02I028337	28337314	28339957	0.96	[{'connected_gene': 'FOSL2', 'score': 11.38}, {'connected_gene': 'FLJ31356', 'score': 11.37}, {'connected_gene': 'WDR43', 'score': 5.59}, {'connected_gene': 'LOC105374381', 'score': 0.39}, {'connected_gene': 'LOC100505716', 'score': 0.31}, {'connected_gene': 'BABAM2', 'score': 0.05}]
chr2	GH02I028389	28389086	28401633	2.61	[{'connected_gene': 'FOSL2', 'score': 568.12}, {'connected_gene': 'ENSG00000270640', 'score': 550.77}, {'connected_gene': 'FLJ31356', 'score': 550.77}, {'connected_gene': 'GPN1', 'score': 24.42}, {'connected_gene': 'SUPT7L', 'score': 19.12}, {'connected_gene': 'NRBP1', 'score': 19.1}, {'connected_gene': 'ZNF512', 'score': 17.98}, {'connected_gene': 'PLB1', 'score': 16.76}, {'connected_gene': 'WDR43', 'score': 15.71}, {'connected_gene': 'IFT172', 'score': 12.73}, {'connected_gene': 'ENSG00000270210', 'score': 11.48}, {'connected_gene': 'LOC102723530', 'score': 11.09}, {'connected_gene': 'SNRPGP7', 'score': 11.06}, {'connected_gene': 'PPP1CB', 'score': 2.1}, {'connected_gene': 'GC02P028390', 'score': 0.77}]
chr2	GH02I028893	28893801	28897204	2.09	[{'connected_gene': 'WDR43', 'score': 559.49}, {'connected_gene': 'TOGARAM2', 'score': 30.86}, {'connected_gene': 'TRMT61B', 'score': 14.83}, {'connected_gene': 'GC02P028913', 'score': 0.37}]
chr2	GH02I028341	28341616	28343641	1.22	[{'connected_gene': 'WDR43', 'score': 5.09}, {'connected_gene': 'LOC105374381', 'score': 0.44}, {'connected_gene': 'LOC100505716', 'score': 0.29}]
chr2	GH02I028325	28325423	28329248	1.2	[{'connected_gene': 'WDR43', 'score': 4.31}, {'connected_gene': 'LOC100505716', 'score': 0.37}, {'connected_gene': 'LOC105374381', 'score': 0.34}, {'connected_gene': 'BABAM2', 'score': 0.05}]
chr2	GH02I028897	28897695	28897844	0.31	[{'connected_gene': 'WDR43', 'score': 0.77}, {'connected_gene': 'GC02P028913', 'score': 0.37}]
chr2	GH02I028898	28898001	28898200	0.49	[{'connected_gene': 'WDR43', 'score': 0.77}, {'connected_gene': 'GC02P028913', 'score': 0.37}]
chr2	GH02I028950	28950397	28953400	1.34	[{'connected_gene': 'TOGARAM2', 'score': 19.88}, {'connected_gene': 'TRMT61B', 'score': 13.97}, {'connected_gene': 'WDR43', 'score': 8.61}, {'connected_gene': 'PPP1CB', 'score': 1.65}, {'connected_gene': 'SNORD53B', 'score': 0.34}]
chr2	GH02I028376	28376490	28383881	1.49	[{'connected_gene': 'GPN1', 'score': 13.01}, {'connected_gene': 'NRBP1', 'score': 12.21}, {'connected_gene': 'WDR43', 'score': 11.36}, {'connected_gene': 'ENSG00000270210', 'score': 8.56}, {'connected_gene': 'FOSL2', 'score': 4.1}, {'connected_gene': 'RBKS', 'score': 3.71}, {'connected_gene': 'PPP1CB', 'score': 2.3}, {'connected_gene': 'BABAM2', 'score': 1.35}, {'connected_gene': 'LOC105374383', 'score': 0.77}, {'connected_gene': 'GC02P028390', 'score': 0.39}]
chr2	GH02I028926	28926136	28929067	0.49	[{'connected_gene': 'SNORD53B', 'score': 550.77}, {'connected_gene': 'GC02P028935', 'score': 550.77}, {'connected_gene': 'GC02P028933', 'score': 550.77}, {'connected_gene': 'GC02P028930', 'score': 550.77}, {'connected_gene': 'SNORD53', 'score': 550.77}, {'connected_gene': 'ENSG00000222224', 'score': 550.77}, {'connected_gene': 'TRMT61B', 'score': 29.97}, {'connected_gene': 'WDR43', 'score': 18.27}]