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
ENST00000271843	[[153946744, 153947311], [153948301, 153948381], [153949168, 153949251], [153949451, 153949489], [153949645, 153950164]]	[[153947154, 153947311], [153948301, 153948381], [153949168, 153949251], [153949451, 153949489], [153949645, 153949728]]
ENST00000356648	[[153946987, 153947311], [153948301, 153948381], [153949168, 153949489], [153949645, 153949865], [153950019, 153950114]]	[[153947154, 153947311], [153948301, 153948381], [153949168, 153949285]]
ENST00000368589	[[153946987, 153947311], [153948301, 153948381], [153949168, 153949489], [153949645, 153950136]]	[[153947154, 153947311], [153948301, 153948381], [153949168, 153949285]]
ENST00000428469	[[153947157, 153947311], [153948301, 153948381], [153949168, 153949398], [153949814, 153949870]]	[[153947157, 153947311], [153948301, 153948381], [153949168, 153949285]]
ENST00000461365	[[153948292, 153948381], [153949168, 153949251], [153949451, 153949489], [153949645, 153949865], [153950019, 153950131]]	None
ENST00000471173	[[153948314, 153948381], [153949168, 153949398], [153949645, 153950102]]	None
NM_006694	[[153946744, 153947311], [153948301, 153948381], [153949168, 153949251], [153949451, 153949489], [153949645, 153950451]]	[[153947154, 153947311], [153948301, 153948381], [153949168, 153949251], [153949451, 153949489], [153949645, 153949728]]

Promoter

Chrom	Start	End	Description
chr1	153949751	153949822	CAGE_peak_5_at_JTB_5end
chr1	153950098	153950112	CAGE_peak_2_at_JTB_5end
chr1	153950116	153950158	CAGE_peak_1_at_JTB_5end
chr1	153950166	153950184	CAGE_peak_3_at_JTB_5end
chr1	153950432	153950487	CAGE_peak_4_at_JTB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I153816	153816017	153816953	0.31	[{'connected_gene': 'DENND4B', 'score': 14.94}, {'connected_gene': 'CREB3L4', 'score': 11.55}, {'connected_gene': 'SLC39A1', 'score': 11.55}, {'connected_gene': 'JTB', 'score': 11.54}, {'connected_gene': 'GATAD2B', 'score': 11.44}, {'connected_gene': 'RAB13', 'score': 10.94}, {'connected_gene': 'RPL34P5', 'score': 10.94}, {'connected_gene': 'RPS27', 'score': 10.94}, {'connected_gene': 'CRTC2', 'score': 10.83}, {'connected_gene': 'NPR1', 'score': 10.01}, {'connected_gene': 'ENSG00000233222', 'score': 9.9}, {'connected_gene': 'ENSG00000243613', 'score': 9.89}, {'connected_gene': 'LOC105371448', 'score': 0.37}, {'connected_gene': 'PIR50903', 'score': 0.31}]
chr1	GH01I153880	153880180	153882926	1.14	[{'connected_gene': 'UBAP2L', 'score': 29.28}, {'connected_gene': 'CREB3L4', 'score': 26.79}, {'connected_gene': 'ENSG00000272654', 'score': 24.14}, {'connected_gene': 'INTS3', 'score': 23.63}, {'connected_gene': 'ATP8B2', 'score': 21.66}, {'connected_gene': 'GATAD2B', 'score': 11.25}, {'connected_gene': 'CRTC2', 'score': 11.24}, {'connected_gene': 'SLC39A1', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.87}, {'connected_gene': 'CHTOP', 'score': 9.99}, {'connected_gene': 'ENSG00000233222', 'score': 9.73}, {'connected_gene': 'ENSG00000243613', 'score': 9.72}, {'connected_gene': 'HAX1', 'score': 9.36}, {'connected_gene': 'SNORA58B', 'score': 9.31}, {'connected_gene': 'RAB13', 'score': 5.72}, {'connected_gene': 'ENSG00000236327', 'score': 0.44}, {'connected_gene': 'LOC645965', 'score': 0.31}]
chr1	GH01I153821	153821445	153821554	0.64	[{'connected_gene': 'GATAD2B', 'score': 11.58}, {'connected_gene': 'DENND4B', 'score': 11.54}, {'connected_gene': 'CRTC2', 'score': 11.37}, {'connected_gene': 'RPS27', 'score': 11.28}, {'connected_gene': 'RAB13', 'score': 11.27}, {'connected_gene': 'RPL34P5', 'score': 11.27}, {'connected_gene': 'CREB3L4', 'score': 10.88}, {'connected_gene': 'SLC39A1', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.88}, {'connected_gene': 'UBAP2L', 'score': 9.81}, {'connected_gene': 'SNORA58B', 'score': 9.81}, {'connected_gene': 'ENSG00000233222', 'score': 9.54}, {'connected_gene': 'ENSG00000243613', 'score': 9.53}, {'connected_gene': 'INTS3', 'score': 9.5}, {'connected_gene': 'TPM3', 'score': 9.21}, {'connected_gene': 'MIR190B', 'score': 9.21}, {'connected_gene': 'PIR50903', 'score': 0.34}, {'connected_gene': 'LOC105371448', 'score': 0.34}]
chr1	GH01I153961	153961304	153965286	2.58	[{'connected_gene': 'SLC39A1', 'score': 550.77}, {'connected_gene': 'MIR6737', 'score': 550.77}, {'connected_gene': 'ENSG00000282386', 'score': 550.77}, {'connected_gene': 'ILF2', 'score': 21.53}, {'connected_gene': 'CREB3L4', 'score': 15.32}, {'connected_gene': 'UBAP2L', 'score': 12.02}, {'connected_gene': 'RAB13', 'score': 11.96}, {'connected_gene': 'RPS27', 'score': 11.93}, {'connected_gene': 'RPL34P5', 'score': 11.91}, {'connected_gene': 'GATAD2B', 'score': 11.21}, {'connected_gene': 'HAX1', 'score': 8.42}, {'connected_gene': 'C1orf189', 'score': 8.26}, {'connected_gene': 'JTB', 'score': 1.66}, {'connected_gene': 'S100A16', 'score': 1.59}, {'connected_gene': 'SNAPIN', 'score': 1.5}]
chr1	GH01I153887	153887531	153888090	0.43	[{'connected_gene': 'CREB3L4', 'score': 26.79}, {'connected_gene': 'GATAD2B', 'score': 11.61}, {'connected_gene': 'SLC39A1', 'score': 11.02}, {'connected_gene': 'DENND4B', 'score': 10.95}, {'connected_gene': 'JTB', 'score': 10.79}, {'connected_gene': 'CRTC2', 'score': 10.5}, {'connected_gene': 'SLC27A3', 'score': 10.32}, {'connected_gene': 'ILF2', 'score': 9.65}, {'connected_gene': 'ENSG00000233222', 'score': 9.46}, {'connected_gene': 'ENSG00000243613', 'score': 9.46}, {'connected_gene': 'INTS3', 'score': 9.22}, {'connected_gene': 'UBAP2L', 'score': 9.08}, {'connected_gene': 'SNORA58B', 'score': 9.07}, {'connected_gene': 'C1orf189', 'score': 8.43}, {'connected_gene': 'HAX1', 'score': 8.19}, {'connected_gene': 'ENSG00000236327', 'score': 0.77}, {'connected_gene': 'LOC645965', 'score': 0.29}]
chr1	GH01I153975	153975790	153979168	2.04	[{'connected_gene': 'JTB', 'score': 550.77}, {'connected_gene': 'GC01P153977', 'score': 550.77}, {'connected_gene': 'ENSG00000272654', 'score': 550.77}, {'connected_gene': 'DENND4B', 'score': 15.58}, {'connected_gene': 'GATAD2B', 'score': 10.54}, {'connected_gene': 'CREB3L4', 'score': 10.22}, {'connected_gene': 'ENSG00000233222', 'score': 9.46}, {'connected_gene': 'ENSG00000243613', 'score': 9.46}, {'connected_gene': 'SLC39A1', 'score': 0.44}]
chr1	GH01I153888	153888093	153889186	0.74	[{'connected_gene': 'ENSG00000236327', 'score': 550.77}, {'connected_gene': 'GATAD2B', 'score': 11.63}, {'connected_gene': 'CREB3L4', 'score': 11.03}, {'connected_gene': 'SLC39A1', 'score': 11.03}, {'connected_gene': 'DENND4B', 'score': 10.97}, {'connected_gene': 'CRTC2', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.8}, {'connected_gene': 'RAB13', 'score': 10.57}, {'connected_gene': 'RPS27', 'score': 10.56}, {'connected_gene': 'RPL34P5', 'score': 10.56}, {'connected_gene': 'SLC27A3', 'score': 10.32}, {'connected_gene': 'NPR1', 'score': 9.82}, {'connected_gene': 'ILF2', 'score': 9.65}, {'connected_gene': 'ENSG00000233222', 'score': 9.46}, {'connected_gene': 'ENSG00000243613', 'score': 9.46}, {'connected_gene': 'INTS3', 'score': 9.21}, {'connected_gene': 'UBAP2L', 'score': 9.08}, {'connected_gene': 'SNORA58B', 'score': 9.07}, {'connected_gene': 'C1orf189', 'score': 8.43}, {'connected_gene': 'HAX1', 'score': 8.25}, {'connected_gene': 'LOC645965', 'score': 0.28}]