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
ENST00000421952	[[49388931, 49392449], [49392861, 49393092]]	[[49390522, 49392449], [49392861, 49393070]]
NM_015086	[[49388932, 49392449], [49392861, 49393088]]	[[49390522, 49392449], [49392861, 49393070]]

Promoter

Chrom	Start	End	Description
chr12	49393148	49393164	CAGE_peak_1_at_DDN_5end
chr12	49393170	49393175	CAGE_peak_5_at_DDN_5end
chr12	49393201	49393210	CAGE_peak_4_at_DDN_5end
chr12	49393215	49393227	CAGE_peak_2_at_DDN_5end
chr12	49393231	49393242	CAGE_peak_3_at_DDN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I049017	49017037	49021005	2.08	[{'connected_gene': 'PRKAG1', 'score': 550.77}, {'connected_gene': 'DDN', 'score': 30.78}, {'connected_gene': 'DDX23', 'score': 15.88}, {'connected_gene': 'CCNT1', 'score': 13.32}, {'connected_gene': 'LOC390314', 'score': 11.35}, {'connected_gene': 'LMBR1L', 'score': 10.32}, {'connected_gene': 'KMT2D', 'score': 10.03}, {'connected_gene': 'SENP1', 'score': 10.01}, {'connected_gene': 'DDN-AS1', 'score': 0.34}]
chr12	GH12I049015	49015138	49015168	0.38	[{'connected_gene': 'PRKAG1', 'score': 0.77}, {'connected_gene': 'DDN', 'score': 0.39}, {'connected_gene': 'DDN-AS1', 'score': 0.37}]
chr12	GH12I049012	49012793	49014850	1.07	[{'connected_gene': 'PRKAG1', 'score': 550.44}, {'connected_gene': 'DDN', 'score': 30.72}, {'connected_gene': 'DDN-AS1', 'score': 0.37}]
chr12	GH12I048873	48873376	48873500	0.36	[{'connected_gene': 'RND1', 'score': 3.41}, {'connected_gene': 'DDN', 'score': 1.96}, {'connected_gene': 'CACNB3', 'score': 1.51}, {'connected_gene': 'RNU6-600P', 'score': 0.37}, {'connected_gene': 'GC12M048893', 'score': 0.37}]
chr12	GH12I049079	49079301	49080966	0.31	[{'connected_gene': 'DDN', 'score': 15.04}, {'connected_gene': 'CCDC65', 'score': 4.74}, {'connected_gene': 'PIR50913', 'score': 0.77}, {'connected_gene': 'LOC105369759', 'score': 0.39}]
chr12	GH12I049068	49068980	49070711	2.06	[{'connected_gene': 'RHEBL1', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 29.9}, {'connected_gene': 'LMBR1L', 'score': 29.51}, {'connected_gene': 'KMT2D', 'score': 27.86}, {'connected_gene': 'SENP1', 'score': 24.04}, {'connected_gene': 'DDN', 'score': 20.48}, {'connected_gene': 'BCDIN3D', 'score': 17.99}, {'connected_gene': 'CCNT1', 'score': 17.46}, {'connected_gene': 'LOC390314', 'score': 13.34}, {'connected_gene': 'KANSL2', 'score': 12.62}, {'connected_gene': 'GC12M049057', 'score': 0.44}]
chr12	GH12I048998	48998718	49000823	1.96	[{'connected_gene': 'DDN-AS1', 'score': 550.77}, {'connected_gene': 'DDN', 'score': 550.77}, {'connected_gene': 'KMT2D', 'score': 11.8}, {'connected_gene': 'ARF3', 'score': 11.38}]
chr12	GH12I048999	48998035	48998367	0.66	[{'connected_gene': 'DDN-AS1', 'score': 550.77}, {'connected_gene': 'DDN', 'score': 0.77}, {'connected_gene': 'ENSG00000258283', 'score': 0.77}]
chr12	GH12I048996	48996818	48996987	0.75	[{'connected_gene': 'DDN-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000258283', 'score': 550.77}, {'connected_gene': 'DDN', 'score': 30.29}]
chr12	GH12I048997	48997318	48997487	0.6	[{'connected_gene': 'DDN-AS1', 'score': 550.77}, {'connected_gene': 'DDN', 'score': 0.77}, {'connected_gene': 'ENSG00000258283', 'score': 0.77}]
chr12	GH12I049055	49055133	49061872	2.09	[{'connected_gene': 'GC12P049057', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 74.87}, {'connected_gene': 'LOC390314', 'score': 67.83}, {'connected_gene': 'LMBR1L', 'score': 60.67}, {'connected_gene': 'CCNT1', 'score': 53.48}, {'connected_gene': 'KANSL2', 'score': 51.65}, {'connected_gene': 'KMT2D', 'score': 47.76}, {'connected_gene': 'LOC100422296', 'score': 43.41}, {'connected_gene': 'SENP1', 'score': 42.32}, {'connected_gene': 'PRPF40B', 'score': 41.05}, {'connected_gene': 'OR5BK1P', 'score': 31.21}, {'connected_gene': 'BCDIN3D', 'score': 27.59}, {'connected_gene': 'ADCY6', 'score': 21.11}, {'connected_gene': 'DDN', 'score': 19.98}, {'connected_gene': 'ENSG00000257964', 'score': 19.91}, {'connected_gene': 'CACNB3', 'score': 19.75}, {'connected_gene': 'LOC101927267', 'score': 19.69}, {'connected_gene': 'SPATS2', 'score': 18.26}, {'connected_gene': 'LOC102725258', 'score': 18.24}, {'connected_gene': 'CCDC184', 'score': 15.18}, {'connected_gene': 'ASIC1', 'score': 12.64}, {'connected_gene': 'FAIM2', 'score': 12.57}, {'connected_gene': 'BCDIN3D-AS1', 'score': 10.81}, {'connected_gene': 'TUBA1A', 'score': 10.03}, {'connected_gene': 'CCDC65', 'score': 8.14}, {'connected_gene': 'DHH', 'score': 3.93}, {'connected_gene': 'GC12M049057', 'score': 0.77}]
chr12	GH12I049063	49063801	49064400	1.03	[{'connected_gene': 'GC12M049057', 'score': 550.77}, {'connected_gene': 'DDN', 'score': 30.0}, {'connected_gene': 'RHEBL1', 'score': 0.44}]
chr12	GH12I048994	48994497	48996105	0.99	[{'connected_gene': 'ENSG00000258283', 'score': 550.77}, {'connected_gene': 'DDN', 'score': 18.8}, {'connected_gene': 'DDN-AS1', 'score': 0.77}]