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
ENST00000483063	[[75185618, 75186019], [75186467, 75186552], [75187231, 75187273], [75196535, 75197255]]	[[75185806, 75186019], [75186467, 75186552], [75187231, 75187273], [75196535, 75196549]]
ENST00000485527	[[75185831, 75186019], [75186467, 75186552], [75187231, 75187363]]	None
ENST00000459636	[[75185832, 75186019], [75186467, 75186552], [75187231, 75187273], [75188185, 75188631]]	None
ENST00000233699	[[75185918, 75186019], [75186467, 75186552], [75186832, 75186883], [75187231, 75187273], [75196535, 75196858]]	None
ENST00000465242	[[75186132, 75186218], [75186467, 75186552], [75187231, 75187273], [75196535, 75196850]]	None
ENST00000473023	[[75186237, 75186552], [75187231, 75187273]]	None
NM_019896	[[75185774, 75186019], [75186467, 75186552], [75187231, 75187273], [75196535, 75196859]]	[[75185806, 75186019], [75186467, 75186552], [75187231, 75187273], [75196535, 75196549]]

Promoter

Chrom	Start	End	Description
chr2	75185762	75185803	CAGE_peak_1_at_POLE4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I074887	74887035	74888764	0.98	[{'connected_gene': 'POLE4', 'score': 5.98}, {'connected_gene': 'HK2', 'score': 5.23}, {'connected_gene': 'LINC01291', 'score': 4.82}, {'connected_gene': 'PIR41645', 'score': 0.44}, {'connected_gene': 'GC02P074881', 'score': 0.44}]
chr2	GH02I074957	74957943	74959746	1.57	[{'connected_gene': 'POLE4', 'score': 550.77}, {'connected_gene': 'LINC01291', 'score': 97.71}, {'connected_gene': 'AUP1', 'score': 14.94}, {'connected_gene': 'TTC31', 'score': 14.92}, {'connected_gene': 'MOGS', 'score': 14.25}, {'connected_gene': 'CCDC142', 'score': 14.04}, {'connected_gene': 'PCGF1', 'score': 13.15}, {'connected_gene': 'MOB1A', 'score': 11.94}, {'connected_gene': 'HTRA2', 'score': 11.47}, {'connected_gene': 'WBP1', 'score': 10.9}, {'connected_gene': 'ENSG00000271452', 'score': 10.32}, {'connected_gene': 'ENSG00000270571', 'score': 9.87}, {'connected_gene': 'GC02P074961', 'score': 0.77}]
chr2	GH02I074881	74881896	74885794	0.49	[{'connected_gene': 'HK2', 'score': 6.01}, {'connected_gene': 'POLE4', 'score': 4.83}, {'connected_gene': 'PIR41645', 'score': 0.77}, {'connected_gene': 'GC02P074881', 'score': 0.77}, {'connected_gene': 'LINC01291', 'score': 0.31}]
chr2	GH02I074892	74892564	74895136	0.69	[{'connected_gene': 'M1AP', 'score': 9.96}, {'connected_gene': 'SEMA4F', 'score': 9.96}, {'connected_gene': 'LINC01291', 'score': 5.58}, {'connected_gene': 'POLE4', 'score': 4.99}, {'connected_gene': 'PIR41645', 'score': 0.39}, {'connected_gene': 'GC02P074881', 'score': 0.39}, {'connected_gene': 'HK2', 'score': 0.21}]
chr2	GH02I074945	74945508	74945537	0.59	[{'connected_gene': 'M1AP', 'score': 9.7}, {'connected_gene': 'SEMA4F', 'score': 9.7}, {'connected_gene': 'LINC01293', 'score': 0.44}, {'connected_gene': 'POLE4', 'score': 0.39}]
chr2	GH02I074948	74948434	74949539	0.31	[{'connected_gene': 'LINC01291', 'score': 16.29}, {'connected_gene': 'POLE4', 'score': 0.44}, {'connected_gene': 'LINC01293', 'score': 0.44}]
chr2	GH02I074939	74939407	74940944	0.91	[{'connected_gene': 'LINC01293', 'score': 550.77}, {'connected_gene': 'LINC01291', 'score': 65.81}, {'connected_gene': 'POLE4', 'score': 0.37}]