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
ENST00000349716	[[114791735, 114793911], [114803969, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114845618, 114846192]]	[[114793336, 114793911], [114803969, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839722]]
ENST00000310346	[[114791735, 114793911], [114803969, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114841556, 114841741], [114845618, 114846247]]	[[114793336, 114793911], [114803969, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114841556, 114841703]]
ENST00000405440	[[114793185, 114793911], [114803969, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114841556, 114841741], [114843432, 114843889]]	[[114793336, 114793911], [114803969, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114841556, 114841703]]
ENST00000526441	[[114803901, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114841556, 114841703]]	[[114803901, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114841556, 114841703]]
ENST00000552726	[[114832682, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114841556, 114841754]]	None
NM_181486	[[114791734, 114793911], [114803969, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114841556, 114841741], [114843432, 114843968]]	[[114793336, 114793911], [114803969, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114841556, 114841703]]
NM_000192	[[114791734, 114793911], [114803969, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114841556, 114841741], [114845618, 114846247]]	[[114793336, 114793911], [114803969, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114841556, 114841703]]
NM_080717	[[114791734, 114793911], [114803969, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839725], [114845618, 114846247]]	[[114793336, 114793911], [114803969, 114804196], [114823280, 114823372], [114832545, 114832698], [114836377, 114836525], [114837317, 114837437], [114839630, 114839722]]

Promoter

Chrom	Start	End	Description
chr12	114841717	114841726	CAGE_peak_15_at_TBX5_5end
chr12	114843562	114843576	CAGE_peak_8_at_TBX5_5end
chr12	114843587	114843600	CAGE_peak_11_at_TBX5_5end
chr12	114843607	114843621	CAGE_peak_7_at_TBX5_5end
chr12	114843628	114843639	CAGE_peak_9_at_TBX5_5end
chr12	114843816	114843832	CAGE_peak_4_at_TBX5_5end
chr12	114843852	114843867	CAGE_peak_3_at_TBX5_5end
chr12	114843910	114843921	CAGE_peak_6_at_TBX5_5end
chr12	114843940	114843955	CAGE_peak_2_at_TBX5_5end
chr12	114845810	114845824	CAGE_peak_1_at_TBX5_5end
chr12	114845834	114845848	CAGE_peak_5_at_TBX5_5end
chr12	114845861	114845868	CAGE_peak_12_at_TBX5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I114438	114438959	114445725	0.6	[{'connected_gene': 'TBX5', 'score': 11.81}, {'connected_gene': 'TBX5-AS1', 'score': 11.81}, {'connected_gene': 'GC12M114444', 'score': 0.77}, {'connected_gene': 'LOC105369998', 'score': 0.44}, {'connected_gene': 'GC12M114445', 'score': 0.44}, {'connected_gene': 'GC12M114409', 'score': 0.29}]
chr12	GH12I114395	114395174	114415427	1.69	[{'connected_gene': 'TBX5', 'score': 565.18}, {'connected_gene': 'TBX5-AS1', 'score': 0.77}, {'connected_gene': 'GC12M114409', 'score': 0.44}, {'connected_gene': 'GC12M114376', 'score': 0.31}, {'connected_gene': 'LOC105369998', 'score': 0.26}]
chr12	GH12I114392	114392240	114394924	0.38	[{'connected_gene': 'TBX5', 'score': 0.39}, {'connected_gene': 'TBX5-AS1', 'score': 0.39}, {'connected_gene': 'GC12M114376', 'score': 0.39}]
chr12	GH12I114481	114481302	114481615	0.45	[{'connected_gene': 'TBX5', 'score': 2.53}, {'connected_gene': 'RN7SKP216', 'score': 0.34}, {'connected_gene': 'GC12M114445', 'score': 0.29}]
chr12	GH12I114163	114163664	114164432	0.46	[{'connected_gene': 'TBX5', 'score': 4.53}, {'connected_gene': 'GC12M114165', 'score': 0.44}, {'connected_gene': 'GLULP5', 'score': 0.22}, {'connected_gene': 'LOC105369995', 'score': 0.17}]
chr12	GH12I114384	114384620	114385857	0.2	[{'connected_gene': 'GC12M114376', 'score': 0.44}, {'connected_gene': 'TBX5', 'score': 0.34}, {'connected_gene': 'TBX5-AS1', 'score': 0.34}]
chr12	GH12I114391	114391325	114392127	0.2	[{'connected_gene': 'GC12M114376', 'score': 0.39}, {'connected_gene': 'TBX5', 'score': 0.37}, {'connected_gene': 'TBX5-AS1', 'score': 0.37}]
chr12	GH12I114383	114383003	114384029	0.2	[{'connected_gene': 'GC12M114376', 'score': 0.77}, {'connected_gene': 'TBX5', 'score': 0.34}, {'connected_gene': 'TBX5-AS1', 'score': 0.34}]
chr12	GH12I114381	114381093	114382533	0.2	[{'connected_gene': 'GC12M114376', 'score': 0.77}, {'connected_gene': 'TBX5', 'score': 0.31}, {'connected_gene': 'TBX5-AS1', 'score': 0.31}]
chr12	GH12I114377	114377371	114377599	0.22	[{'connected_gene': 'GC12M114376', 'score': 550.77}, {'connected_gene': 'TBX5', 'score': 4.33}, {'connected_gene': 'GC12P114342', 'score': 0.28}]
chr12	GH12I114373	114373732	114374312	0.2	[{'connected_gene': 'GC12M114376', 'score': 0.44}, {'connected_gene': 'TBX5', 'score': 0.29}, {'connected_gene': 'GC12P114342', 'score': 0.29}]
chr12	GH12I114361	114361089	114362847	0.2	[{'connected_gene': 'GC12P114342', 'score': 0.37}, {'connected_gene': 'GC12M114376', 'score': 0.37}, {'connected_gene': 'TBX5', 'score': 0.25}]
chr12	GH12I114368	114368446	114369077	0.31	[{'connected_gene': 'GC12M114376', 'score': 0.39}, {'connected_gene': 'GC12P114342', 'score': 0.31}, {'connected_gene': 'TBX5', 'score': 0.28}]
chr12	GH12I114369	114369125	114369820	0.2	[{'connected_gene': 'GC12M114376', 'score': 0.44}, {'connected_gene': 'GC12P114342', 'score': 0.31}, {'connected_gene': 'TBX5', 'score': 0.28}]
chr12	GH12I114378	114378328	114378598	0.42	[{'connected_gene': 'GC12M114376', 'score': 550.77}, {'connected_gene': 'TBX5', 'score': 35.75}, {'connected_gene': 'GC12P114342', 'score': 0.28}]