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
ENST00000356493	[[35099887, 35100169], [35100594, 35100723], [35100928, 35101008], [35101131, 35101276], [35101422, 35101557], [35101706, 35101808], [35101900, 35101959], [35102091, 35102191], [35102682, 35102820], [35103046, 35103154]]	[[35100031, 35100169], [35100594, 35100723], [35100928, 35101008], [35101131, 35101276], [35101422, 35101557], [35101706, 35101808], [35101900, 35101959], [35102091, 35102191], [35102682, 35102820], [35103046, 35103091]]
ENST00000488050	[[35099892, 35100169], [35100594, 35101008], [35101131, 35101276], [35101422, 35101490]]	[[35100859, 35101008], [35101131, 35101276], [35101422, 35101434]]
ENST00000452248	[[35099957, 35100169], [35100594, 35100723], [35100928, 35101008], [35101131, 35101276], [35101706, 35101808], [35101900, 35101959], [35102091, 35102191], [35102682, 35102820], [35103046, 35103130]]	[[35100031, 35100169], [35100594, 35100723], [35100928, 35101008], [35101131, 35101276], [35101706, 35101808], [35101900, 35101959], [35102091, 35102191], [35102682, 35102820], [35103046, 35103091]]
ENST00000487490	[[35101777, 35101808], [35101900, 35101959], [35102091, 35102361]]	None
NM_013442	[[35099772, 35100169], [35100594, 35100723], [35100928, 35101008], [35101131, 35101276], [35101422, 35101557], [35101706, 35101808], [35101900, 35101959], [35102091, 35102191], [35102682, 35102820], [35103046, 35103192]]	[[35100031, 35100169], [35100594, 35100723], [35100928, 35101008], [35101131, 35101276], [35101422, 35101557], [35101706, 35101808], [35101900, 35101959], [35102091, 35102191], [35102682, 35102820], [35103046, 35103091]]
NM_001287031	[[35099772, 35100169], [35100594, 35100723], [35100928, 35101008], [35101131, 35101276], [35101706, 35101808], [35101900, 35101959], [35102091, 35102191], [35102682, 35102820], [35103046, 35103192]]	[[35100031, 35100169], [35100594, 35100723], [35100928, 35101008], [35101131, 35101276], [35101706, 35101808], [35101900, 35101959], [35102091, 35102191], [35102682, 35102820], [35103046, 35103091]]
NM_001287033	[[35099772, 35100169], [35100594, 35100723], [35100928, 35101008], [35101131, 35101276], [35101422, 35101557], [35101706, 35101808], [35101900, 35101959], [35102091, 35102191], [35103046, 35103192]]	[[35100031, 35100169], [35100594, 35100723], [35100928, 35101008], [35101131, 35101276], [35101422, 35101557], [35101706, 35101808], [35101900, 35101959], [35102091, 35102191], [35103046, 35103091]]
NM_001287032	[[35099772, 35100169], [35100594, 35100723], [35100928, 35101008], [35101131, 35101276], [35101422, 35101557], [35101706, 35101808], [35101900, 35101959], [35102091, 35102191], [35102682, 35102820], [35103157, 35103192]]	[[35100031, 35100169], [35100594, 35100723], [35100928, 35101008], [35101131, 35101276], [35101422, 35101557], [35101706, 35101808], [35101900, 35101959], [35102091, 35102191], [35102682, 35102712]]

Promoter

Chrom	Start	End	Description
chr9	35103105	35103154	CAGE_peak_1_at_STOML2_5end
chr9	35103159	35103173	CAGE_peak_2_at_STOML2_5end
chr9	35103175	35103186	CAGE_peak_3_at_STOML2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I035552	35552276	35554931	1.2	[{'connected_gene': 'RUSC2', 'score': 12.33}, {'connected_gene': 'ENSG00000234181', 'score': 9.9}, {'connected_gene': 'PIGO', 'score': 9.9}, {'connected_gene': 'STOML2', 'score': 9.9}, {'connected_gene': 'OR13J1', 'score': 4.88}, {'connected_gene': 'ENSG00000227388', 'score': 4.24}, {'connected_gene': 'PIR61372', 'score': 0.44}, {'connected_gene': 'FAM166B', 'score': 0.39}]
chr9	GH09I035025	35025240	35029304	1.03	[{'connected_gene': 'PIGO', 'score': 27.6}, {'connected_gene': 'FANCG', 'score': 22.71}, {'connected_gene': 'TMEM8B', 'score': 14.67}, {'connected_gene': 'DNAJB5', 'score': 11.7}, {'connected_gene': 'ENSG00000230074', 'score': 10.67}, {'connected_gene': 'SPAG8', 'score': 10.57}, {'connected_gene': 'PHF24', 'score': 10.43}, {'connected_gene': 'STOML2', 'score': 10.0}, {'connected_gene': 'ENSG00000234181', 'score': 9.91}, {'connected_gene': 'CREB3', 'score': 9.77}, {'connected_gene': 'VCP', 'score': 8.43}, {'connected_gene': 'LOC105376025', 'score': 0.77}, {'connected_gene': 'C9orf131', 'score': 0.39}]
chr9	GH09I035108	35108527	35117534	2.61	[{'connected_gene': 'FAM214B', 'score': 573.1}, {'connected_gene': 'PIGO', 'score': 26.02}, {'connected_gene': 'SPAG8', 'score': 12.38}, {'connected_gene': 'TMEM8B', 'score': 11.3}, {'connected_gene': 'RUSC2', 'score': 11.18}, {'connected_gene': 'ARHGEF39', 'score': 10.52}, {'connected_gene': 'VCP', 'score': 10.01}, {'connected_gene': 'FANCG', 'score': 7.87}, {'connected_gene': 'UNC13B', 'score': 5.84}, {'connected_gene': 'DNAJB5', 'score': 1.98}, {'connected_gene': 'STOML2', 'score': 0.44}]
chr9	GH09I035515	35515128	35523122	1.64	[{'connected_gene': 'FAM166B', 'score': 17.3}, {'connected_gene': 'RUSC2', 'score': 7.45}, {'connected_gene': 'OR13J1', 'score': 4.8}, {'connected_gene': 'CCDC107', 'score': 4.04}, {'connected_gene': 'ARHGEF39', 'score': 4.01}, {'connected_gene': 'CREB3', 'score': 3.61}, {'connected_gene': 'VCP', 'score': 2.64}, {'connected_gene': 'STOML2', 'score': 2.01}, {'connected_gene': 'RPL36AP33', 'score': 0.39}, {'connected_gene': 'PIR61372', 'score': 0.31}]
chr9	GH09I035101	35101665	35104758	2.27	[{'connected_gene': 'STOML2', 'score': 550.77}, {'connected_gene': 'PIGO', 'score': 48.12}, {'connected_gene': 'FANCG', 'score': 10.9}, {'connected_gene': 'VCP', 'score': 10.9}, {'connected_gene': 'ARHGEF39', 'score': 10.52}, {'connected_gene': 'FAM214B', 'score': 0.39}]
chr9	GH09I034899	34899664	34899833	0.65	[{'connected_gene': 'PHF24', 'score': 11.37}, {'connected_gene': 'VCP', 'score': 10.9}, {'connected_gene': 'FANCG', 'score': 10.89}, {'connected_gene': 'ENSG00000234181', 'score': 10.72}, {'connected_gene': 'PIGO', 'score': 10.72}, {'connected_gene': 'STOML2', 'score': 10.72}, {'connected_gene': 'CCL19', 'score': 9.91}, {'connected_gene': 'FAM205C', 'score': 0.77}, {'connected_gene': 'GLULP4', 'score': 0.37}]
chr9	GH09I035078	35078044	35080862	1.99	[{'connected_gene': 'FANCG', 'score': 565.41}, {'connected_gene': 'VCP', 'score': 21.32}, {'connected_gene': 'ENSG00000228352', 'score': 16.36}, {'connected_gene': 'RGP1', 'score': 13.02}, {'connected_gene': 'ARHGEF39', 'score': 12.22}, {'connected_gene': 'PIGO', 'score': 12.01}, {'connected_gene': 'STOML2', 'score': 11.57}, {'connected_gene': 'FAM214B', 'score': 5.22}, {'connected_gene': 'PIR34260', 'score': 0.44}]
chr9	GH09I035051	35051484	35051653	0.65	[{'connected_gene': 'FANCG', 'score': 11.84}, {'connected_gene': 'ENSG00000234181', 'score': 11.36}, {'connected_gene': 'STOML2', 'score': 11.36}, {'connected_gene': 'PIGO', 'score': 11.34}, {'connected_gene': 'PHF24', 'score': 10.23}, {'connected_gene': 'RN7SL338P', 'score': 0.77}, {'connected_gene': 'VCP', 'score': 0.34}]
chr9	GH09I035257	35257625	35259093	1	[{'connected_gene': 'UNC13B', 'score': 11.15}, {'connected_gene': 'STOML2', 'score': 10.47}, {'connected_gene': 'ENSG00000234181', 'score': 10.46}, {'connected_gene': 'PIGO', 'score': 10.46}, {'connected_gene': 'FAM214B', 'score': 4.81}, {'connected_gene': 'FAM205C', 'score': 4.57}, {'connected_gene': 'GC09M035186', 'score': 0.19}, {'connected_gene': 'ENSG00000279083', 'score': 0.15}]
chr9	GH09I034999	34999528	35002529	1.18	[{'connected_gene': 'LOC100420114', 'score': 550.77}, {'connected_gene': 'ENSG00000279489', 'score': 550.77}, {'connected_gene': 'VCP', 'score': 20.7}, {'connected_gene': 'FANCG', 'score': 15.64}, {'connected_gene': 'C9orf131', 'score': 11.44}, {'connected_gene': 'PHF24', 'score': 10.89}, {'connected_gene': 'ENSG00000234181', 'score': 10.48}, {'connected_gene': 'PIGO', 'score': 10.48}, {'connected_gene': 'STOML2', 'score': 10.47}, {'connected_gene': 'GC09P034997', 'score': 0.77}]
chr9	GH09I035546	35546365	35549389	0.38	[{'connected_gene': 'PIR61372', 'score': 550.77}, {'connected_gene': 'RUSC2', 'score': 11.64}, {'connected_gene': 'ENSG00000234181', 'score': 9.61}, {'connected_gene': 'PIGO', 'score': 9.61}, {'connected_gene': 'STOML2', 'score': 9.6}, {'connected_gene': 'LOC730098', 'score': 4.19}, {'connected_gene': 'FAM166B', 'score': 0.37}]
chr9	GH09I035044	35044184	35044353	0.31	[{'connected_gene': 'ENSG00000279608', 'score': 550.77}, {'connected_gene': 'VCP', 'score': 12.0}, {'connected_gene': 'FANCG', 'score': 11.96}, {'connected_gene': 'ENSG00000234181', 'score': 10.97}, {'connected_gene': 'PIGO', 'score': 10.97}, {'connected_gene': 'STOML2', 'score': 10.96}, {'connected_gene': 'PHF24', 'score': 10.26}, {'connected_gene': 'C9orf131', 'score': 0.77}]