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
ENST00000283632	[[86947295, 86947932], [86968049, 86968192], [86979018, 86979153], [86980580, 86980681], [86992149, 86992316], [86992981, 86993147], [86997145, 86997248], [86998680, 86998835], [87000470, 87005164]]	[[86947790, 86947932], [86968049, 86968192], [86979018, 86979153], [86980580, 86980681], [86992149, 86992316], [86992981, 86993147], [86997145, 86997248], [86998680, 86998835], [87000470, 87000534]]
ENST00000466417	[[86975350, 86975613], [86979018, 86979153], [86980580, 86980668]]	None
ENST00000472843	[[86992635, 86992725], [86992981, 86993147], [86997145, 86997248], [86998680, 86998835], [87000470, 87000548]]	None
ENST00000471113	[[86998423, 86998573], [86998680, 86998835], [87000470, 87000720]]	None
NM_022780	[[86947413, 86947932], [86968049, 86968192], [86979018, 86979153], [86980580, 86980681], [86992149, 86992316], [86992981, 86993147], [86997145, 86997248], [86998680, 86998835], [87000470, 87005164]]	[[86947790, 86947932], [86968049, 86968192], [86979018, 86979153], [86980580, 86980681], [86992149, 86992316], [86992981, 86993147], [86997145, 86997248], [86998680, 86998835], [87000470, 87000534]]

Promoter

Chrom	Start	End	Description
chr2	86947406	86947434	CAGE_peak_1_at_RMND5A_5end
chr2	86992622	86992628	CAGE_peak_18_at_RMND5A_5end
chr2	86992669	86992684	CAGE_peak_8_at_RMND5A_5end
chr2	86998329	86998374	CAGE_peak_16_at_RMND5A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I086783	86783119	86795755	1.98	[{'connected_gene': 'CD8A', 'score': 591.87}, {'connected_gene': 'CD8B', 'score': 21.15}, {'connected_gene': 'CHMP3', 'score': 20.0}, {'connected_gene': 'RNU6-640P', 'score': 10.07}, {'connected_gene': 'REEP1', 'score': 6.93}, {'connected_gene': 'ENSG00000231259', 'score': 6.74}, {'connected_gene': 'RMND5A', 'score': 4.65}, {'connected_gene': 'KDM3A', 'score': 2.11}, {'connected_gene': 'RNF103', 'score': 1.51}, {'connected_gene': 'LOC105374846', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.23}]
chr2	GH02I086769	86769130	86772348	0.31	[{'connected_gene': 'CD8A', 'score': 7.3}, {'connected_gene': 'RMND5A', 'score': 6.5}, {'connected_gene': 'ENSG00000231259', 'score': 5.63}, {'connected_gene': 'PLGLB1', 'score': 5.39}, {'connected_gene': 'CHMP3', 'score': 4.18}, {'connected_gene': 'LOC105374846', 'score': 0.34}, {'connected_gene': 'GC02M086689', 'score': 0.28}]
chr2	GH02I086772	86772365	86776328	0.2	[{'connected_gene': 'CD8A', 'score': 7.56}, {'connected_gene': 'RMND5A', 'score': 6.5}, {'connected_gene': 'LOC105374846', 'score': 0.34}, {'connected_gene': 'GC02M086689', 'score': 0.28}]
chr2	GH02I086741	86741368	86743305	0.31	[{'connected_gene': 'CD8A', 'score': 7.76}, {'connected_gene': 'GC02M086689', 'score': 0.44}, {'connected_gene': 'RMND5A', 'score': 0.34}, {'connected_gene': 'LOC105374846', 'score': 0.23}]
chr2	GH02I086776	86776341	86778386	0.2	[{'connected_gene': 'CD8A', 'score': 12.13}, {'connected_gene': 'CHMP3', 'score': 9.95}, {'connected_gene': 'RNU6-640P', 'score': 9.94}, {'connected_gene': 'ENSG00000202537', 'score': 9.45}, {'connected_gene': 'RMND5A', 'score': 7.39}, {'connected_gene': 'LOC105374846', 'score': 0.37}, {'connected_gene': 'GC02M086689', 'score': 0.26}]
chr2	GH02I086728	86728814	86730101	0.2	[{'connected_gene': 'CD8A', 'score': 6.68}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.44}, {'connected_gene': 'RMND5A', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.44}]
chr2	GH02I086694	86694668	86696122	1.61	[{'connected_gene': 'SNORD94', 'score': 41.53}, {'connected_gene': 'LOC102724642', 'score': 34.49}, {'connected_gene': 'RNF103-CHMP3', 'score': 10.88}, {'connected_gene': 'RNF103', 'score': 10.76}, {'connected_gene': 'POLR1A', 'score': 10.21}, {'connected_gene': 'CHMP3', 'score': 9.95}, {'connected_gene': 'RNU6-640P', 'score': 9.92}, {'connected_gene': 'RMND5A', 'score': 6.78}, {'connected_gene': 'CD8A', 'score': 5.64}, {'connected_gene': 'ENSG00000231259', 'score': 5.56}, {'connected_gene': 'GC02P086686', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.26}]
chr2	GH02I086719	86719400	86721875	2.14	[{'connected_gene': 'RMND5A', 'score': 555.44}, {'connected_gene': 'RNF103-CHMP3', 'score': 550.77}, {'connected_gene': 'CD8A', 'score': 5.49}, {'connected_gene': 'ENSG00000231259', 'score': 5.3}, {'connected_gene': 'GC02M086689', 'score': 0.37}]
chr2	GH02I086764	86764669	86765487	0.82	[{'connected_gene': 'CHMP3', 'score': 10.75}, {'connected_gene': 'RNU6-640P', 'score': 10.73}, {'connected_gene': 'CD8A', 'score': 7.69}, {'connected_gene': 'GC02M086689', 'score': 0.31}, {'connected_gene': 'LOC105374846', 'score': 0.29}, {'connected_gene': 'RMND5A', 'score': 0.26}]
chr2	GH02I086732	86732601	86733201	0.31	[{'connected_gene': 'POLR1A', 'score': 4.58}, {'connected_gene': 'GC02M086689', 'score': 0.77}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.39}, {'connected_gene': 'RMND5A', 'score': 0.39}]
chr2	GH02I086494	86494891	86495269	0.26	[{'connected_gene': 'RNU6-640P', 'score': 12.09}, {'connected_gene': 'CHMP3', 'score': 11.95}, {'connected_gene': 'MRPL35', 'score': 4.83}, {'connected_gene': 'RMND5A', 'score': 1.54}, {'connected_gene': 'GC02P086487', 'score': 0.44}, {'connected_gene': 'GC02M086516', 'score': 0.34}, {'connected_gene': 'GC02P086423', 'score': 0.19}]
chr2	GH02I086714	86714201	86715799	0.74	[{'connected_gene': 'LOC102724642', 'score': 19.04}, {'connected_gene': 'SNORD94', 'score': 15.7}, {'connected_gene': 'ENSG00000231259', 'score': 15.23}, {'connected_gene': 'LOC100420889', 'score': 13.38}, {'connected_gene': 'LOC730268', 'score': 11.64}, {'connected_gene': 'PTCD3', 'score': 10.8}, {'connected_gene': 'LOC105374845', 'score': 10.22}, {'connected_gene': 'RMND5A', 'score': 7.71}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.34}, {'connected_gene': 'GC02P086686', 'score': 0.31}]
chr2	GH02I086747	86747437	86748912	0.68	[{'connected_gene': 'RNF103-CHMP3', 'score': 11.92}, {'connected_gene': 'RNF103', 'score': 11.74}, {'connected_gene': 'CHMP3', 'score': 11.06}, {'connected_gene': 'RNU6-640P', 'score': 11.04}, {'connected_gene': 'CD8A', 'score': 7.03}, {'connected_gene': 'RMND5A', 'score': 5.96}, {'connected_gene': 'IMMT', 'score': 4.68}, {'connected_gene': 'GC02M086689', 'score': 0.39}, {'connected_gene': 'LOC105374846', 'score': 0.25}]
chr2	GH02I086724	86724001	86724400	0.2	[{'connected_gene': 'RNF103-CHMP3', 'score': 0.77}, {'connected_gene': 'RMND5A', 'score': 0.77}, {'connected_gene': 'GC02M086689', 'score': 0.39}]
chr2	GH02I086727	86727469	86728604	0.2	[{'connected_gene': 'RNF103-CHMP3', 'score': 0.44}, {'connected_gene': 'RMND5A', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.44}]
chr2	GH02I086734	86734401	86735800	0.4	[{'connected_gene': 'GC02M086689', 'score': 550.77}, {'connected_gene': 'CD8A', 'score': 6.14}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.39}, {'connected_gene': 'RMND5A', 'score': 0.39}]
chr2	GH02I086222	86222446	86226438	1.45	[{'connected_gene': 'GC02M086172', 'score': 550.77}, {'connected_gene': 'MRPL35', 'score': 43.42}, {'connected_gene': 'IMMT', 'score': 36.06}, {'connected_gene': 'POLR1A', 'score': 20.79}, {'connected_gene': 'REEP1', 'score': 15.95}, {'connected_gene': 'ENSG00000251974', 'score': 11.34}, {'connected_gene': 'ENSG00000202537', 'score': 10.7}, {'connected_gene': 'ENSG00000273080', 'score': 4.88}, {'connected_gene': 'RNF103', 'score': 1.53}, {'connected_gene': 'RMND5A', 'score': 1.38}, {'connected_gene': 'GC02M086283', 'score': 0.19}]
chr2	GH02I086703	86703073	86706214	1.26	[{'connected_gene': 'ENSG00000272564', 'score': 4.0}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.37}, {'connected_gene': 'RMND5A', 'score': 0.37}, {'connected_gene': 'GC02P086686', 'score': 0.37}, {'connected_gene': 'GC02M086689', 'score': 0.29}]
chr2	GH02I086733	86733601	86734000	0.2	[{'connected_gene': 'GC02M086689', 'score': 550.77}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.39}, {'connected_gene': 'RMND5A', 'score': 0.39}]