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
ENST00000459979	[[177001339, 177001727], [177003724, 177004391]]	None
ENST00000432796	[[177001684, 177001727], [177033758, 177034143]]	[[177033842, 177034143]]
ENST00000468418	[[177015121, 177016794], [177017432, 177017765], [177033758, 177034383], [177036244, 177037825]]	[[177033842, 177034383], [177036244, 177037002]]
ENST00000410016	[[177025618, 177025808], [177033758, 177034383], [177036244, 177037813]]	[[177033842, 177034383], [177036244, 177037002]]
ENST00000249440	[[177028804, 177028896], [177033758, 177034383], [177036244, 177037830]]	[[177033842, 177034383], [177036244, 177037002]]
NM_006898	[[177028804, 177028896], [177033758, 177034383], [177036244, 177037826]]	[[177033842, 177034383], [177036244, 177037002]]

Promoter

Chrom	Start	End	Description
chr2	177001098	177001101	CAGE_peak_9_at_HOXD3_5end
chr2	177001237	177001252	CAGE_peak_5_at_HOXD3_5end
chr2	177001268	177001287	CAGE_peak_3_at_HOXD3_5end
chr2	177001290	177001315	CAGE_peak_1_at_HOXD3_5end
chr2	177001336	177001357	CAGE_peak_2_at_HOXD3_5end
chr2	177001366	177001379	CAGE_peak_4_at_HOXD3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I175234	175233493	175233642	0.85	[{'connected_gene': 'CIR1', 'score': 11.33}, {'connected_gene': 'ATF2', 'score': 10.49}, {'connected_gene': 'HOXD3', 'score': 9.73}, {'connected_gene': 'GC02P175236', 'score': 0.77}, {'connected_gene': 'GC02P175227', 'score': 0.44}]
chr2	GH02I176489	176489749	176492249	1.08	[{'connected_gene': 'HAGLR', 'score': 10.94}, {'connected_gene': 'HOXD1', 'score': 10.94}, {'connected_gene': 'HOXD3', 'score': 10.52}, {'connected_gene': 'ENSG00000229434', 'score': 0.37}, {'connected_gene': 'PPIAP67', 'score': 0.1}]
chr2	GH02I176492	176492585	176494001	0.6	[{'connected_gene': 'HAGLR', 'score': 10.94}, {'connected_gene': 'HOXD1', 'score': 10.94}, {'connected_gene': 'HOXD3', 'score': 10.52}, {'connected_gene': 'ENSG00000222043', 'score': 5.16}, {'connected_gene': 'ENSG00000229434', 'score': 0.39}, {'connected_gene': 'PPIAP67', 'score': 0.1}]
chr2	GH02I176496	176496217	176497145	0.2	[{'connected_gene': 'HAGLR', 'score': 10.94}, {'connected_gene': 'HOXD1', 'score': 10.94}, {'connected_gene': 'HOXD-AS2', 'score': 10.56}, {'connected_gene': 'HOXD3', 'score': 10.56}, {'connected_gene': 'ENSG00000229434', 'score': 0.39}, {'connected_gene': 'PPIAP67', 'score': 0.1}]
chr2	GH02I176105	176105133	176105568	0.97	[{'connected_gene': 'HOXD11', 'score': 569.68}, {'connected_gene': 'HOXD13', 'score': 7.94}, {'connected_gene': 'HOXD10', 'score': 5.88}, {'connected_gene': 'HOXD9', 'score': 3.19}, {'connected_gene': 'HOXD8', 'score': 2.9}, {'connected_gene': 'HOXD3', 'score': 1.79}]
chr2	GH02I176128	176128150	176141429	2.47	[{'connected_gene': 'HOXD8', 'score': 558.68}, {'connected_gene': 'HOXD3', 'score': 550.77}, {'connected_gene': 'HOXD1', 'score': 21.87}, {'connected_gene': 'HAGLR', 'score': 20.72}, {'connected_gene': 'ATF2', 'score': 19.11}, {'connected_gene': 'HOXD4', 'score': 18.94}, {'connected_gene': 'HOXD9', 'score': 15.79}, {'connected_gene': 'HAGLROS', 'score': 11.59}, {'connected_gene': 'HOXD11', 'score': 10.66}, {'connected_gene': 'HOXD-AS2', 'score': 5.12}, {'connected_gene': 'LOC100129455', 'score': 0.44}, {'connected_gene': 'GC02M176128', 'score': 0.44}]
chr2	GH02I176544	176544514	176546214	0.31	[{'connected_gene': 'HOXD4', 'score': 10.95}, {'connected_gene': 'MIR10B', 'score': 10.95}, {'connected_gene': 'HOXD3', 'score': 10.95}, {'connected_gene': 'HAGLR', 'score': 10.78}, {'connected_gene': 'HOXD1', 'score': 10.78}, {'connected_gene': 'HOXD10', 'score': 10.21}, {'connected_gene': 'HOXD11', 'score': 10.21}, {'connected_gene': 'ENSG00000236231', 'score': 0.39}, {'connected_gene': 'GC02P176590', 'score': 0.25}]
chr2	GH02I176455	176455013	176456765	0.9	[{'connected_gene': 'HOXD4', 'score': 11.1}, {'connected_gene': 'MIR10B', 'score': 11.1}, {'connected_gene': 'HOXD3', 'score': 11.1}, {'connected_gene': 'HOXD11', 'score': 10.04}, {'connected_gene': 'HOXD10', 'score': 10.04}, {'connected_gene': 'ENSG00000229434', 'score': 0.23}, {'connected_gene': 'PPIAP67', 'score': 0.13}]
chr2	GH02I176175	176175133	176175282	0.6	[{'connected_gene': 'HOXD4', 'score': 11.56}, {'connected_gene': 'HOXD3', 'score': 11.5}, {'connected_gene': 'MIR10B', 'score': 10.97}, {'connected_gene': 'HOXD-AS2', 'score': 10.83}, {'connected_gene': 'HOXD10', 'score': 10.42}, {'connected_gene': 'HOXD11', 'score': 10.41}, {'connected_gene': 'HAGLROS', 'score': 0.77}, {'connected_gene': 'ENSG00000272729', 'score': 0.44}, {'connected_gene': 'HAGLR', 'score': 0.39}]
chr2	GH02I176449	176449693	176450384	0.43	[{'connected_gene': 'HOXD4', 'score': 10.83}, {'connected_gene': 'HOXD3', 'score': 10.83}, {'connected_gene': 'HOXD8', 'score': 10.72}, {'connected_gene': 'HOXD-AS2', 'score': 10.68}, {'connected_gene': 'MIR10B', 'score': 10.31}, {'connected_gene': 'HAGLR', 'score': 9.71}, {'connected_gene': 'HOXD1', 'score': 9.71}, {'connected_gene': 'HOXD11', 'score': 9.62}, {'connected_gene': 'HOXD10', 'score': 9.62}, {'connected_gene': 'ENSG00000229434', 'score': 0.22}, {'connected_gene': 'PPIAP67', 'score': 0.14}]
chr2	GH02I176561	176561611	176562011	0.42	[{'connected_gene': 'HOXD3', 'score': 10.34}, {'connected_gene': 'HAGLR', 'score': 10.16}, {'connected_gene': 'HOXD1', 'score': 10.16}, {'connected_gene': 'HOXD4', 'score': 9.94}, {'connected_gene': 'MIR10B', 'score': 9.77}, {'connected_gene': 'GC02P176590', 'score': 0.31}, {'connected_gene': 'ENSG00000236231', 'score': 0.29}]
chr2	GH02I176562	176562021	176563022	0.75	[{'connected_gene': 'HOXD3', 'score': 10.34}, {'connected_gene': 'HAGLR', 'score': 10.16}, {'connected_gene': 'HOXD1', 'score': 10.16}, {'connected_gene': 'HOXD4', 'score': 9.94}, {'connected_gene': 'MIR10B', 'score': 9.77}, {'connected_gene': 'GC02P176590', 'score': 0.31}, {'connected_gene': 'ENSG00000236231', 'score': 0.29}]
chr2	GH02I176621	176621357	176621762	0.44	[{'connected_gene': 'HOXD3', 'score': 22.48}, {'connected_gene': 'HOXD10', 'score': 10.2}, {'connected_gene': 'HOXD11', 'score': 10.2}, {'connected_gene': 'HAGLR', 'score': 9.63}, {'connected_gene': 'HOXD1', 'score': 9.63}, {'connected_gene': 'LOC105373754', 'score': 0.44}, {'connected_gene': 'LINC01117', 'score': 0.37}]
chr2	GH02I176653	176653993	176654205	0.87	[{'connected_gene': 'HOXD3', 'score': 11.55}, {'connected_gene': 'HOXD8', 'score': 11.55}, {'connected_gene': 'HOXD-AS2', 'score': 11.04}, {'connected_gene': 'HOXD9', 'score': 10.9}, {'connected_gene': 'HOXD11', 'score': 9.73}, {'connected_gene': 'LINC01116', 'score': 7.63}, {'connected_gene': 'GC02P176666', 'score': 0.39}, {'connected_gene': 'LINC01117', 'score': 0.37}, {'connected_gene': 'GC02P176638', 'score': 0.37}]
chr2	GH02I176445	176445631	176447044	0.59	[{'connected_gene': 'HOXD3', 'score': 10.68}, {'connected_gene': 'HOXD8', 'score': 10.68}, {'connected_gene': 'HOXD-AS2', 'score': 10.68}, {'connected_gene': 'HOXD4', 'score': 10.11}, {'connected_gene': 'MIR10B', 'score': 9.47}, {'connected_gene': 'ENSG00000229434', 'score': 0.21}, {'connected_gene': 'PPIAP67', 'score': 0.14}]
chr2	GH02I176503	176503294	176504900	0.67	[{'connected_gene': 'HOXD3', 'score': 10.56}, {'connected_gene': 'HOXD4', 'score': 10.15}, {'connected_gene': 'MIR10B', 'score': 10.15}, {'connected_gene': 'HAGLR', 'score': 10.01}, {'connected_gene': 'HOXD1', 'score': 10.01}, {'connected_gene': 'ENSG00000229434', 'score': 0.77}, {'connected_gene': 'PPIAP67', 'score': 0.1}]
chr2	GH02I176581	176581557	176584860	1.02	[{'connected_gene': 'HOXD3', 'score': 10.32}, {'connected_gene': 'HOXD4', 'score': 10.01}, {'connected_gene': 'MIR10B', 'score': 10.01}, {'connected_gene': 'GC02P176590', 'score': 0.44}, {'connected_gene': 'ENSG00000236231', 'score': 0.23}]
chr2	GH02I176683	176683193	176683291	0.2	[{'connected_gene': 'HOXD3', 'score': 10.35}, {'connected_gene': 'HOXD4', 'score': 10.34}, {'connected_gene': 'LOC105369143', 'score': 0.77}, {'connected_gene': 'PIR52992', 'score': 0.15}]
chr2	GH02I176552	176552179	176555202	1.32	[{'connected_gene': 'HNRNPA3', 'score': 14.81}, {'connected_gene': 'HOXD4', 'score': 11.42}, {'connected_gene': 'HOXD3', 'score': 11.42}, {'connected_gene': 'HOXD-AS2', 'score': 11.25}, {'connected_gene': 'MIR10B', 'score': 10.48}, {'connected_gene': 'HAGLR', 'score': 10.2}, {'connected_gene': 'HOXD1', 'score': 10.2}, {'connected_gene': 'HOXD13', 'score': 9.54}, {'connected_gene': 'ENSG00000236231', 'score': 0.34}, {'connected_gene': 'GC02P176590', 'score': 0.28}]
chr2	GH02I176177	176177335	176179500	0.9	[{'connected_gene': 'HAGLROS', 'score': 582.37}, {'connected_gene': 'HAGLR', 'score': 15.04}, {'connected_gene': 'HOXD1', 'score': 12.62}, {'connected_gene': 'HOXD4', 'score': 11.51}, {'connected_gene': 'HOXD3', 'score': 11.46}, {'connected_gene': 'HOXD-AS2', 'score': 10.96}, {'connected_gene': 'MIR10B', 'score': 10.41}, {'connected_gene': 'HOXD11', 'score': 9.9}, {'connected_gene': 'HOXD12', 'score': 9.89}, {'connected_gene': 'HOXD10', 'score': 9.7}, {'connected_gene': 'HOXD13', 'score': 9.4}]
chr2	GH02I176159	176159703	176162723	0.54	[{'connected_gene': 'HAGLROS', 'score': 29.24}, {'connected_gene': 'HAGLR', 'score': 27.29}, {'connected_gene': 'HOXD1', 'score': 24.54}, {'connected_gene': 'HOXD-AS2', 'score': 11.78}, {'connected_gene': 'HOXD9', 'score': 11.72}, {'connected_gene': 'HOXD3', 'score': 11.63}, {'connected_gene': 'HOXD8', 'score': 11.59}, {'connected_gene': 'HOXD10', 'score': 11.41}, {'connected_gene': 'HOXD11', 'score': 11.4}, {'connected_gene': 'HOXD13', 'score': 11.27}, {'connected_gene': 'HOXD12', 'score': 10.98}, {'connected_gene': 'ENSG00000272729', 'score': 0.77}, {'connected_gene': 'ENSG00000278500', 'score': 0.39}]
chr2	GH02I176171	176171373	176171522	0.49	[{'connected_gene': 'HAGLROS', 'score': 33.37}, {'connected_gene': 'HOXD-AS2', 'score': 11.27}, {'connected_gene': 'HOXD3', 'score': 11.27}, {'connected_gene': 'HOXD10', 'score': 11.01}, {'connected_gene': 'HOXD11', 'score': 11.01}, {'connected_gene': 'HOXD8', 'score': 10.92}, {'connected_gene': 'HOXD12', 'score': 10.77}, {'connected_gene': 'HOXD9', 'score': 10.56}, {'connected_gene': 'HOXD13', 'score': 10.49}, {'connected_gene': 'ENSG00000272729', 'score': 0.44}, {'connected_gene': 'ENSG00000278500', 'score': 0.34}]
chr2	GH02I176565	176565450	176566791	0.6	[{'connected_gene': 'HOXD-AS2', 'score': 10.76}, {'connected_gene': 'HOXD3', 'score': 10.76}, {'connected_gene': 'HAGLR', 'score': 10.16}, {'connected_gene': 'HOXD1', 'score': 10.16}, {'connected_gene': 'HOXD11', 'score': 10.08}, {'connected_gene': 'HOXD4', 'score': 9.93}, {'connected_gene': 'MIR10B', 'score': 9.77}, {'connected_gene': 'GC02P176590', 'score': 0.34}, {'connected_gene': 'ENSG00000236231', 'score': 0.29}]
chr2	GH02I176173	176172853	176173002	0.75	[{'connected_gene': 'HOXD-AS2', 'score': 11.25}, {'connected_gene': 'HOXD3', 'score': 11.25}, {'connected_gene': 'HOXD10', 'score': 11.01}, {'connected_gene': 'HOXD11', 'score': 11.01}, {'connected_gene': 'HOXD8', 'score': 10.92}, {'connected_gene': 'HOXD12', 'score': 10.77}, {'connected_gene': 'HOXD9', 'score': 10.55}, {'connected_gene': 'HOXD13', 'score': 10.48}, {'connected_gene': 'HAGLROS', 'score': 0.77}, {'connected_gene': 'ENSG00000272729', 'score': 0.44}, {'connected_gene': 'ENSG00000278500', 'score': 0.34}]
chr2	GH02I176172	176171813	176171962	0.49	[{'connected_gene': 'HOXD-AS2', 'score': 11.27}, {'connected_gene': 'HOXD3', 'score': 11.25}, {'connected_gene': 'HOXD10', 'score': 11.01}, {'connected_gene': 'HOXD11', 'score': 11.01}, {'connected_gene': 'HOXD8', 'score': 10.92}, {'connected_gene': 'HOXD12', 'score': 10.77}, {'connected_gene': 'HOXD9', 'score': 10.56}, {'connected_gene': 'HOXD13', 'score': 10.49}, {'connected_gene': 'ENSG00000272729', 'score': 0.44}, {'connected_gene': 'HAGLROS', 'score': 0.44}, {'connected_gene': 'ENSG00000278500', 'score': 0.34}]
chr2	GH02I176151	176151244	176151303	0.68	[{'connected_gene': 'GC02P176169', 'score': 550.77}, {'connected_gene': 'PIR51248', 'score': 550.77}, {'connected_gene': 'HOXD4', 'score': 550.77}, {'connected_gene': 'GC02P176168', 'score': 550.77}, {'connected_gene': 'MIR10B', 'score': 550.77}, {'connected_gene': 'ENSG00000278500', 'score': 550.77}, {'connected_gene': 'HOXD8', 'score': 6.95}, {'connected_gene': 'ENSG00000272729', 'score': 0.39}, {'connected_gene': 'HOXD3', 'score': 0.39}]