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
ENST00000297283	[[44102325, 44102529], [44104430, 44104611], [44104714, 44105186]]	[[44102362, 44102529], [44104430, 44104611], [44104714, 44105128]]
NM_000290	[[44102325, 44102529], [44104430, 44104611], [44104714, 44105186]]	[[44102362, 44102529], [44104430, 44104611], [44104714, 44105128]]

Promoter

Chrom	Start	End	Description
chr7	44104756	44104784	CAGE_peak_2_at_PGAM2_5end
chr7	44105158	44105173	CAGE_peak_1_at_PGAM2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I044159	44159272	44159331	0.96	[{'connected_gene': 'GCK', 'score': 550.28}, {'connected_gene': 'POLD2', 'score': 12.16}, {'connected_gene': 'RNA5SP230', 'score': 12.16}, {'connected_gene': 'AEBP1', 'score': 11.66}, {'connected_gene': 'POLM', 'score': 11.3}, {'connected_gene': 'PGAM2', 'score': 11.01}, {'connected_gene': 'ENSG00000239775', 'score': 11.01}, {'connected_gene': 'LOC105375257', 'score': 0.39}, {'connected_gene': 'LOC105375258', 'score': 0.39}]
chr7	GH07I044163	44162549	44164496	0.65	[{'connected_gene': 'MYL7', 'score': 12.2}, {'connected_gene': 'POLD2', 'score': 12.14}, {'connected_gene': 'RNA5SP230', 'score': 12.14}, {'connected_gene': 'AEBP1', 'score': 11.65}, {'connected_gene': 'PGAM2', 'score': 11.54}, {'connected_gene': 'ENSG00000239775', 'score': 11.54}, {'connected_gene': 'POLM', 'score': 11.3}, {'connected_gene': 'URGCP', 'score': 4.49}, {'connected_gene': 'LOC105375257', 'score': 0.44}, {'connected_gene': 'LOC105375258', 'score': 0.37}, {'connected_gene': 'GCK', 'score': 0.29}]
chr7	GH07I044162	44162342	44162491	0.68	[{'connected_gene': 'MYL7', 'score': 12.2}, {'connected_gene': 'POLD2', 'score': 12.14}, {'connected_gene': 'RNA5SP230', 'score': 12.14}, {'connected_gene': 'AEBP1', 'score': 11.65}, {'connected_gene': 'POLM', 'score': 11.3}, {'connected_gene': 'PGAM2', 'score': 11.0}, {'connected_gene': 'ENSG00000239775', 'score': 11.0}, {'connected_gene': 'LOC105375257', 'score': 0.44}, {'connected_gene': 'LOC105375258', 'score': 0.39}, {'connected_gene': 'GCK', 'score': 0.28}]
chr7	GH07I044090	44090110	44090379	0.52	[{'connected_gene': 'PGAM2', 'score': 12.04}, {'connected_gene': 'ENSG00000239775', 'score': 12.01}, {'connected_gene': 'POLD2', 'score': 11.71}, {'connected_gene': 'POLM', 'score': 0.44}, {'connected_gene': 'AEBP1', 'score': 0.39}]
chr7	GH07I044092	44090404	44091359	0.49	[{'connected_gene': 'PGAM2', 'score': 12.04}, {'connected_gene': 'ENSG00000239775', 'score': 12.01}, {'connected_gene': 'POLD2', 'score': 11.71}, {'connected_gene': 'POLM', 'score': 0.44}, {'connected_gene': 'AEBP1', 'score': 0.39}]
chr7	GH07I044063	44063503	44064607	0.63	[{'connected_gene': 'PGAM2', 'score': 550.77}, {'connected_gene': 'ENSG00000239775', 'score': 550.77}, {'connected_gene': 'RASA4CP', 'score': 31.45}, {'connected_gene': 'POLM', 'score': 14.92}, {'connected_gene': 'AEBP1', 'score': 11.19}, {'connected_gene': 'PIR32362', 'score': 0.77}, {'connected_gene': 'DBNL', 'score': 0.37}]
chr7	GH07I044064	44064862	44066423	1.16	[{'connected_gene': 'PGAM2', 'score': 550.77}, {'connected_gene': 'ENSG00000239775', 'score': 550.77}, {'connected_gene': 'POLM', 'score': 13.3}, {'connected_gene': 'LINC00957', 'score': 6.93}, {'connected_gene': 'DBNL', 'score': 4.76}]
chr7	GH07I044086	44086611	44090017	1.28	[{'connected_gene': 'POLM', 'score': 23.09}, {'connected_gene': 'RASA4CP', 'score': 16.38}, {'connected_gene': 'UBE2D4', 'score': 15.34}, {'connected_gene': 'ENSG00000241057', 'score': 13.4}, {'connected_gene': 'PGAM2', 'score': 12.04}, {'connected_gene': 'ENSG00000239775', 'score': 12.04}, {'connected_gene': 'POLD2', 'score': 11.7}, {'connected_gene': 'AEBP1', 'score': 2.67}, {'connected_gene': 'YKT6', 'score': 1.43}]
chr7	GH07I044091	44091664	44093919	0.59	[{'connected_gene': 'POLM', 'score': 35.4}, {'connected_gene': 'RASA4CP', 'score': 16.76}, {'connected_gene': 'ENSG00000241057', 'score': 15.3}, {'connected_gene': 'UBE2D4', 'score': 13.62}, {'connected_gene': 'PGAM2', 'score': 12.01}, {'connected_gene': 'ENSG00000239775', 'score': 12.01}, {'connected_gene': 'POLD2', 'score': 11.71}, {'connected_gene': 'AEBP1', 'score': 0.39}]
chr7	GH07I044065	44063102	44063159	0.57	[{'connected_gene': 'PIR32362', 'score': 550.77}, {'connected_gene': 'ENSG00000239775', 'score': 550.77}, {'connected_gene': 'AEBP1', 'score': 11.19}, {'connected_gene': 'PGAM2', 'score': 0.77}, {'connected_gene': 'DBNL', 'score': 0.37}]