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
ENST00000281031	[[77779349, 77781082], [77784043, 77784187], [77790624, 77791265]]	[[77781032, 77781082], [77784043, 77784187], [77790624, 77790790]]
ENST00000527806	[[77779394, 77780956], [77784124, 77784187], [77790624, 77790887]]	[[77780918, 77780956], [77784124, 77784187], [77790624, 77790790]]
ENST00000534029	[[77780901, 77781082], [77790624, 77790865]]	[[77781032, 77781082], [77790624, 77790790]]
ENST00000525085	[[77780903, 77781082], [77784043, 77784118], [77790624, 77790865]]	[[77781032, 77781082], [77784043, 77784118], [77790624, 77790790]]
ENST00000528164	[[77783909, 77784187], [77790624, 77790907]]	[[77784029, 77784187], [77790624, 77790790]]
NM_004549	[[77779392, 77781082], [77784043, 77784187], [77790624, 77791265]]	[[77781032, 77781082], [77784043, 77784187], [77790624, 77790790]]
NM_001204054	[[77779392, 77780956], [77784124, 77784187], [77790624, 77791265]]	[[77780918, 77780956], [77784124, 77784187], [77790624, 77790790]]
NM_001204055	[[77779392, 77781082], [77784043, 77784118], [77790624, 77791265]]	[[77781032, 77781082], [77784043, 77784118], [77790624, 77790790]]

Promoter

Chrom	Start	End	Description
chr11	77790833	77790844	CAGE_peak_2_at_NDUFC2_5end,CAGE_peak_3_at_NDUFC2-KCTD14_5end
chr11	77790870	77790934	CAGE_peak_1_at_NDUFC2-KCTD14_5end,CAGE_peak_1_at_NDUFC2_5end
chr11	77791110	77791123	CAGE_peak_3_at_NDUFC2_5end,CAGE_peak_4_at_NDUFC2-KCTD14_5end
chr11	77791156	77791159	CAGE_peak_4_at_NDUFC2_5end,CAGE_peak_5_at_NDUFC2-KCTD14_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I078288	78288682	78293944	1.77	[{'connected_gene': 'GAB2', 'score': 35.62}, {'connected_gene': 'LOC101928865', 'score': 12.98}, {'connected_gene': 'ENSG00000254420', 'score': 12.59}, {'connected_gene': 'INTS4', 'score': 12.47}, {'connected_gene': 'ENSG00000254649', 'score': 11.42}, {'connected_gene': 'RPL21P95', 'score': 11.26}, {'connected_gene': 'ENSG00000255449', 'score': 10.72}, {'connected_gene': 'NARS2', 'score': 9.86}, {'connected_gene': 'NDUFC2', 'score': 4.25}, {'connected_gene': 'LOC105369402', 'score': 0.77}, {'connected_gene': 'PIR56737', 'score': 0.26}]
chr11	GH11I078019	78019875	78020024	0.6	[{'connected_gene': 'INTS4', 'score': 11.63}, {'connected_gene': 'KCTD14', 'score': 11.07}, {'connected_gene': 'THRSP', 'score': 10.89}, {'connected_gene': 'NDUFC2', 'score': 9.8}, {'connected_gene': 'ENSG00000254675', 'score': 0.77}, {'connected_gene': 'ENSG00000254829', 'score': 0.77}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 0.21}]
chr11	GH11I078036	78036506	78042144	1.53	[{'connected_gene': 'INTS4', 'score': 65.37}, {'connected_gene': 'LOC101928865', 'score': 61.88}, {'connected_gene': 'RPL21P95', 'score': 59.73}, {'connected_gene': 'ENSG00000255449', 'score': 45.16}, {'connected_gene': 'KCTD21-AS1', 'score': 41.02}, {'connected_gene': 'NDUFC2', 'score': 7.72}, {'connected_gene': 'ALG8', 'score': 6.76}, {'connected_gene': 'KCTD14', 'score': 0.44}, {'connected_gene': 'ENSG00000254675', 'score': 0.37}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 0.26}]
chr11	GH11I078044	78044188	78046924	1.95	[{'connected_gene': 'KCTD14', 'score': 550.77}, {'connected_gene': 'KCTD21-AS1', 'score': 45.94}, {'connected_gene': 'INTS4', 'score': 10.57}, {'connected_gene': 'NDUFC2', 'score': 7.78}, {'connected_gene': 'ALG8', 'score': 5.99}, {'connected_gene': 'AAMDC', 'score': 4.98}, {'connected_gene': 'ENSG00000254675', 'score': 0.34}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 0.29}]
chr11	GH11I078077	78077847	78082082	2.13	[{'connected_gene': 'NDUFC2', 'score': 558.92}, {'connected_gene': 'LOC105369401', 'score': 550.77}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 550.77}, {'connected_gene': 'KCTD21-AS1', 'score': 30.45}, {'connected_gene': 'INTS4', 'score': 14.14}, {'connected_gene': 'RPL21P95', 'score': 12.69}, {'connected_gene': 'LOC101928865', 'score': 10.57}, {'connected_gene': 'RSF1', 'score': 10.05}, {'connected_gene': 'THRSP', 'score': 0.37}]
chr11	GH11I077085	77085606	77089796	1.19	[{'connected_gene': 'AAMDC', 'score': 4.97}, {'connected_gene': 'NDUFC2', 'score': 4.26}, {'connected_gene': 'OMP', 'score': 0.37}, {'connected_gene': 'CAPN5', 'score': 0.34}]
chr11	GH11I078060	78060828	78062248	1.04	[{'connected_gene': 'KCTD21-AS1', 'score': 16.6}, {'connected_gene': 'ENSG00000254829', 'score': 10.86}, {'connected_gene': 'INTS4', 'score': 10.31}, {'connected_gene': 'NDUFC2', 'score': 8.52}, {'connected_gene': 'ALG8', 'score': 6.02}, {'connected_gene': 'THRSP', 'score': 0.77}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 0.37}, {'connected_gene': 'KCTD14', 'score': 0.37}]
chr11	GH11I078082	78082998	78087573	0.87	[{'connected_gene': 'KCTD21-AS1', 'score': 68.84}, {'connected_gene': 'THRSP', 'score': 10.99}, {'connected_gene': 'KCTD14', 'score': 10.98}, {'connected_gene': 'ENSG00000254829', 'score': 10.43}, {'connected_gene': 'INTS4', 'score': 9.94}, {'connected_gene': 'NDUFC2', 'score': 9.3}, {'connected_gene': 'ALG8', 'score': 6.07}, {'connected_gene': 'AAMDC', 'score': 5.0}, {'connected_gene': 'LOC105369401', 'score': 0.77}, {'connected_gene': 'GC11P078094', 'score': 0.44}]
chr11	GH11I078090	78090089	78091673	0.88	[{'connected_gene': 'KCTD21-AS1', 'score': 48.91}, {'connected_gene': 'KCTD14', 'score': 10.97}, {'connected_gene': 'THRSP', 'score': 10.96}, {'connected_gene': 'ENSG00000254829', 'score': 10.23}, {'connected_gene': 'INTS4', 'score': 9.93}, {'connected_gene': 'NDUFC2', 'score': 9.07}, {'connected_gene': 'KCTD21', 'score': 8.55}, {'connected_gene': 'GC11P078094', 'score': 0.77}, {'connected_gene': 'LOC105369401', 'score': 0.44}]
chr11	GH11I078078	78077001	78077200	0.49	[{'connected_gene': 'RPL21P95', 'score': 15.08}, {'connected_gene': 'INTS4', 'score': 14.26}, {'connected_gene': 'LOC101928865', 'score': 13.29}, {'connected_gene': 'ENSG00000255449', 'score': 12.29}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 0.77}, {'connected_gene': 'NDUFC2', 'score': 0.77}, {'connected_gene': 'THRSP', 'score': 0.39}]
chr11	GH11I078050	78050173	78052284	1.34	[{'connected_gene': 'ENSG00000254829', 'score': 11.12}, {'connected_gene': 'INTS4', 'score': 10.72}, {'connected_gene': 'NDUFC2', 'score': 8.71}, {'connected_gene': 'ALG8', 'score': 5.84}, {'connected_gene': 'KCTD14', 'score': 0.44}, {'connected_gene': 'THRSP', 'score': 0.39}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 0.31}]
chr11	GH11I078149	78149775	78150001	0.63	[{'connected_gene': 'GC11P078150', 'score': 550.77}, {'connected_gene': 'GC11P078151', 'score': 550.77}, {'connected_gene': 'USP35', 'score': 11.91}, {'connected_gene': 'KCTD21', 'score': 11.91}, {'connected_gene': 'THRSP', 'score': 9.91}, {'connected_gene': 'INTS4', 'score': 9.48}, {'connected_gene': 'NDUFC2', 'score': 7.89}, {'connected_gene': 'KCTD21-AS1', 'score': 0.39}]
chr11	GH11I078168	78168184	78171220	1.24	[{'connected_gene': 'PIR40351', 'score': 550.77}, {'connected_gene': 'NDUFC2', 'score': 10.66}, {'connected_gene': 'THRSP', 'score': 9.87}, {'connected_gene': 'KCTD21', 'score': 8.38}, {'connected_gene': 'KCTD21-AS1', 'score': 6.3}, {'connected_gene': 'AAMDC', 'score': 5.12}, {'connected_gene': 'GC11M078165', 'score': 0.77}]
chr11	GH11I078166	78166495	78167833	0.88	[{'connected_gene': 'GC11M078165', 'score': 550.77}, {'connected_gene': 'KCTD21-AS1', 'score': 17.73}, {'connected_gene': 'ALG8', 'score': 12.72}, {'connected_gene': 'USP35', 'score': 12.26}, {'connected_gene': 'KCTD21', 'score': 12.26}, {'connected_gene': 'NDUFC2', 'score': 10.66}, {'connected_gene': 'THRSP', 'score': 9.87}, {'connected_gene': 'PIR40351', 'score': 0.77}]