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
ENST00000396825	[[42931477, 42935880], [42939615, 42939809]]	[[42935264, 42935880], [42939615, 42939788]]
NM_001080472	[[42931477, 42935880], [42939615, 42939892]]	[[42935264, 42935880], [42939615, 42939788]]

Promoter

Chrom	Start	End	Description
chr20	42939782	42939858	CAGE_peak_1_at_FITM2_5end
chr20	42939882	42939897	CAGE_peak_2_at_FITM2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I044173	44173956	44189616	2.62	[{'connected_gene': 'JPH2', 'score': 569.71}, {'connected_gene': 'SRSF6', 'score': 67.97}, {'connected_gene': 'OSER1', 'score': 30.83}, {'connected_gene': 'L3MBTL1', 'score': 20.83}, {'connected_gene': 'FITM2', 'score': 13.17}, {'connected_gene': 'IFT52', 'score': 10.92}, {'connected_gene': 'SGK2', 'score': 9.84}, {'connected_gene': 'OSER1-AS1', 'score': 7.55}, {'connected_gene': 'GC20P044130', 'score': 0.23}]
chr20	GH20I044165	44165339	44168193	0.99	[{'connected_gene': 'JPH2', 'score': 11.24}, {'connected_gene': 'FITM2', 'score': 10.76}, {'connected_gene': 'OSER1', 'score': 7.3}, {'connected_gene': 'TTPAL', 'score': 6.35}, {'connected_gene': 'GC20P044130', 'score': 0.28}]
chr20	GH20I044216	44216999	44220678	1.5	[{'connected_gene': 'OSER1', 'score': 18.48}, {'connected_gene': 'SRSF6', 'score': 15.96}, {'connected_gene': 'FITM2', 'score': 12.31}, {'connected_gene': 'LINC01620', 'score': 10.54}, {'connected_gene': 'LINC01430', 'score': 10.54}, {'connected_gene': 'OSER1-AS1', 'score': 9.87}, {'connected_gene': 'JPH2', 'score': 4.6}, {'connected_gene': 'GDAP1L1', 'score': 0.31}]
chr20	GH20I044319	44319961	44320226	0.7	[{'connected_gene': 'OSER1', 'score': 10.89}, {'connected_gene': 'FITM2', 'score': 0.44}, {'connected_gene': 'R3HDML', 'score': 0.37}]
chr20	GH20I044301	44301640	44303603	0.92	[{'connected_gene': 'OSER1', 'score': 6.74}, {'connected_gene': 'FITM2', 'score': 0.44}, {'connected_gene': 'GC20M044290', 'score': 0.39}]
chr20	GH20I044206	44206836	44212942	2.33	[{'connected_gene': 'OSER1', 'score': 570.29}, {'connected_gene': 'OSER1-AS1', 'score': 566.22}, {'connected_gene': 'SRSF6', 'score': 22.04}, {'connected_gene': 'FITM2', 'score': 12.3}, {'connected_gene': 'L3MBTL1', 'score': 11.73}, {'connected_gene': 'KCNK15', 'score': 11.53}, {'connected_gene': 'IFT52', 'score': 11.19}, {'connected_gene': 'WISP2', 'score': 10.49}, {'connected_gene': 'JPH2', 'score': 0.34}]
chr20	GH20I044326	44326460	44327339	1.06	[{'connected_gene': 'KCNS1', 'score': 4.96}, {'connected_gene': 'R3HDML', 'score': 0.39}, {'connected_gene': 'FITM2', 'score': 0.37}]
chr20	GH20I044421	44421928	44437121	1.17	[{'connected_gene': 'HNF4A', 'score': 20.02}, {'connected_gene': 'SRSF6', 'score': 14.72}, {'connected_gene': 'LOC105372629', 'score': 11.63}, {'connected_gene': 'FITM2', 'score': 11.43}, {'connected_gene': 'LINC01620', 'score': 11.28}, {'connected_gene': 'LINC01430', 'score': 11.28}, {'connected_gene': 'PKIG', 'score': 10.53}, {'connected_gene': 'MIR3646', 'score': 0.34}]
chr20	GH20I044397	44397855	44420654	1.96	[{'connected_gene': 'HNF4A', 'score': 558.71}, {'connected_gene': 'MIR3646', 'score': 550.77}, {'connected_gene': 'SRSF6', 'score': 14.72}, {'connected_gene': 'FITM2', 'score': 10.64}, {'connected_gene': 'LINC01620', 'score': 10.32}, {'connected_gene': 'LINC01430', 'score': 10.32}, {'connected_gene': 'SDC4', 'score': 9.84}, {'connected_gene': 'OSER1-AS1', 'score': 4.97}]
chr20	GH20I044336	44336201	44336330	0.38	[{'connected_gene': 'R3HDML', 'score': 550.77}, {'connected_gene': 'FITM2', 'score': 0.31}]
chr20	GH20I044455	44455988	44460572	0.88	[{'connected_gene': 'FITM2', 'score': 10.12}, {'connected_gene': 'ENSG00000132832', 'score': 5.06}, {'connected_gene': 'TTPAL', 'score': 4.97}, {'connected_gene': 'LINC01620', 'score': 0.44}, {'connected_gene': 'LINC01430', 'score': 0.44}, {'connected_gene': 'MIR3646', 'score': 0.23}]
chr20	GH20I044168	44168471	44169198	0.2	[{'connected_gene': 'FITM2', 'score': 10.76}, {'connected_gene': 'JPH2', 'score': 10.67}, {'connected_gene': 'GC20P044130', 'score': 0.28}]
chr20	GH20I044169	44169425	44173652	0.72	[{'connected_gene': 'FITM2', 'score': 10.76}, {'connected_gene': 'OSER1', 'score': 7.75}, {'connected_gene': 'JPH2', 'score': 5.6}, {'connected_gene': 'GC20P044130', 'score': 0.26}]
chr20	GH20I044309	44309671	44311830	2.07	[{'connected_gene': 'FITM2', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 12.84}, {'connected_gene': 'TTPAL', 'score': 4.89}, {'connected_gene': 'GC20M044290', 'score': 0.37}]
chr20	GH20I044384	44384376	44385646	1.08	[{'connected_gene': 'FITM2', 'score': 11.33}, {'connected_gene': 'LINC01620', 'score': 10.55}, {'connected_gene': 'LINC01430', 'score': 10.55}, {'connected_gene': 'IFT52', 'score': 10.12}, {'connected_gene': 'OSER1-AS1', 'score': 7.45}, {'connected_gene': 'OSER1', 'score': 4.77}, {'connected_gene': 'ENSG00000233376', 'score': 0.44}, {'connected_gene': 'HNF4A-AS1', 'score': 0.39}, {'connected_gene': 'LOC105372629', 'score': 0.31}, {'connected_gene': 'HNF4A', 'score': 0.31}]
chr20	GH20I044460	44460819	44462152	1.07	[{'connected_gene': 'FITM2', 'score': 9.99}, {'connected_gene': 'LINC01620', 'score': 0.77}, {'connected_gene': 'LINC01430', 'score': 0.77}, {'connected_gene': 'MIR3646', 'score': 0.23}]
chr20	GH20I044215	44215161	44215330	0.84	[{'connected_gene': 'FITM2', 'score': 12.3}, {'connected_gene': 'OSER1-AS1', 'score': 9.49}, {'connected_gene': 'GDAP1L1', 'score': 0.29}]
chr20	GH20I044324	44324308	44324773	0.43	[{'connected_gene': 'LOC105372629', 'score': 12.18}, {'connected_gene': 'HNF4A', 'score': 12.18}, {'connected_gene': 'OSER1', 'score': 11.07}, {'connected_gene': 'FITM2', 'score': 0.39}, {'connected_gene': 'R3HDML', 'score': 0.39}]