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
ENST00000256682	[[49329505, 49332891], [49333437, 49333562], [49333779, 49333890], [49334730, 49334971], [49351092, 49351334]]	[[49332729, 49332891], [49333437, 49333562], [49333779, 49333890], [49334730, 49334878]]
ENST00000485410	[[49332203, 49332630], [49351092, 49351228]]	None
ENST00000447318	[[49332336, 49332891], [49333437, 49333562], [49334730, 49334971], [49351092, 49351260]]	[[49332729, 49332891], [49333437, 49333562], [49334730, 49334878]]
ENST00000541959	[[49332707, 49332891], [49333437, 49333562], [49333779, 49333890], [49334730, 49334971], [49335350, 49335360], [49351092, 49351228]]	[[49332729, 49332891], [49333437, 49333562], [49333779, 49333890], [49334730, 49334878]]
ENST00000541236	[[49333514, 49333562], [49333779, 49333890], [49334730, 49334971], [49350767, 49350852]]	[[49333514, 49333562], [49333779, 49333890], [49334730, 49334878]]
ENST00000539611	[[49333886, 49333890], [49334730, 49334971], [49346895, 49347057], [49349880, 49349980], [49351092, 49351161]]	[[49333886, 49333890], [49334730, 49334878]]
ENST00000545855	[[49334757, 49334971], [49349880, 49350223]]	[[49334757, 49334878]]
ENST00000541967	[[49334876, 49334971], [49349880, 49350133], [49350767, 49350988]]	None
ENST00000472621	[[49334906, 49334971], [49349477, 49349543], [49349880, 49350275]]	None
ENST00000536283	[[49349934, 49350318], [49351092, 49351245]]	None
NM_001659	[[49329991, 49332891], [49333437, 49333562], [49333779, 49333890], [49334730, 49334971], [49351092, 49351252]]	[[49332729, 49332891], [49333437, 49333562], [49333779, 49333890], [49334730, 49334878]]

Promoter

Chrom	Start	End	Description
chr12	49334751	49334764	CAGE_peak_5_at_ARF3_5end
chr12	49334866	49334877	CAGE_peak_10_at_ARF3_5end
chr12	49351191	49351222	CAGE_peak_2_at_ARF3_5end
chr12	49351229	49351282	CAGE_peak_1_at_ARF3_5end
chr12	49351291	49351302	CAGE_peak_4_at_ARF3_5end
chr12	49351303	49351314	CAGE_peak_3_at_ARF3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I048965	48965050	48965751	0.56	[{'connected_gene': 'CCDC65', 'score': 14.5}, {'connected_gene': 'GC12P048969', 'score': 0.77}, {'connected_gene': 'ARF3', 'score': 0.44}, {'connected_gene': 'WNT10B', 'score': 0.44}]
chr12	GH12I048932	48932329	48935750	0.49	[{'connected_gene': 'WNT10B', 'score': 18.52}, {'connected_gene': 'CCDC65', 'score': 14.63}, {'connected_gene': 'ARF3', 'score': 12.01}, {'connected_gene': 'WNT1', 'score': 11.61}, {'connected_gene': 'RNU6-940P', 'score': 11.61}, {'connected_gene': 'FKBP11', 'score': 10.96}, {'connected_gene': 'GC12M048929', 'score': 0.44}, {'connected_gene': 'ENSG00000255863', 'score': 0.44}, {'connected_gene': 'ENSG00000272822', 'score': 0.34}]
chr12	GH12I048955	48955058	48955207	0.38	[{'connected_gene': 'WNT10B', 'score': 10.5}, {'connected_gene': 'ARF3', 'score': 0.77}, {'connected_gene': 'ENSG00000272822', 'score': 0.77}, {'connected_gene': 'ENSG00000255863', 'score': 0.37}]
chr12	GH12I048977	48977196	48982261	1.6	[{'connected_gene': 'WNT1', 'score': 550.77}, {'connected_gene': 'ARF3', 'score': 12.51}, {'connected_gene': 'FKBP11', 'score': 11.21}, {'connected_gene': 'ENSG00000255863', 'score': 10.63}, {'connected_gene': 'WNT10B', 'score': 7.27}, {'connected_gene': 'GC12P049011', 'score': 0.44}]
chr12	GH12I048881	48881825	48884565	1.33	[{'connected_gene': 'FKBP11', 'score': 23.92}, {'connected_gene': 'ARF3', 'score': 11.6}, {'connected_gene': 'ENSG00000255863', 'score': 11.27}, {'connected_gene': 'WNT10B', 'score': 6.73}, {'connected_gene': 'CCDC65', 'score': 6.62}, {'connected_gene': 'RND1', 'score': 1.48}, {'connected_gene': 'OR8S1', 'score': 1.32}, {'connected_gene': 'RNU6-600P', 'score': 0.44}, {'connected_gene': 'GC12M048893', 'score': 0.44}]
chr12	GH12I049043	49043858	49044047	0.71	[{'connected_gene': 'OR5BK1P', 'score': 27.89}, {'connected_gene': 'PRPF40B', 'score': 20.5}, {'connected_gene': 'LOC100422296', 'score': 14.55}, {'connected_gene': 'ARF3', 'score': 10.51}, {'connected_gene': 'GC12P049032', 'score': 0.39}, {'connected_gene': 'GC12P049057', 'score': 0.39}, {'connected_gene': 'KMT2D', 'score': 0.37}]
chr12	GH12I048956	48955330	48958306	2.07	[{'connected_gene': 'ARF3', 'score': 559.87}, {'connected_gene': 'ENSG00000272822', 'score': 550.77}, {'connected_gene': 'CCNT1', 'score': 36.4}, {'connected_gene': 'KANSL2', 'score': 36.12}, {'connected_gene': 'LMBR1L', 'score': 34.73}, {'connected_gene': 'LOC390314', 'score': 34.45}, {'connected_gene': 'DDX23', 'score': 28.49}, {'connected_gene': 'KMT2D', 'score': 27.87}, {'connected_gene': 'SENP1', 'score': 24.27}, {'connected_gene': 'PRPF40B', 'score': 20.2}, {'connected_gene': 'LOC101927267', 'score': 19.09}, {'connected_gene': 'CCDC65', 'score': 15.35}, {'connected_gene': 'BCDIN3D-AS1', 'score': 15.07}, {'connected_gene': 'OR5BK1P', 'score': 13.53}, {'connected_gene': 'ADCY6', 'score': 13.14}, {'connected_gene': 'CCDC184', 'score': 12.84}, {'connected_gene': 'PRPH', 'score': 12.22}, {'connected_gene': 'LOC100422296', 'score': 11.63}, {'connected_gene': 'FAIM2', 'score': 11.37}, {'connected_gene': 'DHH', 'score': 10.69}, {'connected_gene': 'FAM186B', 'score': 10.53}, {'connected_gene': 'FKBP11', 'score': 10.46}, {'connected_gene': 'ENSG00000257964', 'score': 10.03}, {'connected_gene': 'LOC105369760', 'score': 10.02}, {'connected_gene': 'OR8T1P', 'score': 9.77}, {'connected_gene': 'BCDIN3D', 'score': 9.72}, {'connected_gene': 'WNT10B', 'score': 7.06}, {'connected_gene': 'ENSG00000255863', 'score': 0.37}]
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	GH12I048940	48940227	48942363	0.38	[{'connected_gene': 'ENSG00000255863', 'score': 550.77}, {'connected_gene': 'CCDC65', 'score': 14.57}, {'connected_gene': 'FKBP11', 'score': 9.59}, {'connected_gene': 'ARF3', 'score': 0.37}, {'connected_gene': 'ENSG00000272822', 'score': 0.37}]
chr12	GH12I048936	48936478	48936667	0.62	[{'connected_gene': 'ENSG00000255863', 'score': 0.77}, {'connected_gene': 'GC12M048929', 'score': 0.44}, {'connected_gene': 'ARF3', 'score': 0.34}, {'connected_gene': 'ENSG00000272822', 'score': 0.34}]