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
ENST00000241041	[[45931219, 45931728], [45932448, 45932513], [45935369, 45935489], [45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45937253, 45937387], [45937777, 45937854], [45939008, 45939044], [45939250, 45939380]]	[[45931639, 45931728], [45932448, 45932513], [45935369, 45935489], [45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45937253, 45937387], [45937777, 45937854], [45939008, 45939044], [45939250, 45939362]]
ENST00000523721	[[45931720, 45931863], [45932448, 45932513], [45933449, 45933566]]	None
ENST00000378750	[[45931724, 45931863], [45932448, 45932513], [45935369, 45935489], [45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45937253, 45937387], [45937777, 45937854], [45939008, 45939044], [45939250, 45939606]]	[[45931804, 45931863], [45932448, 45932513], [45935369, 45935489], [45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45937253, 45937387], [45937777, 45937854], [45939008, 45939044], [45939250, 45939362]]
ENST00000532681	[[45931755, 45931863], [45932448, 45932513], [45935369, 45935489], [45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45937253, 45937387], [45937777, 45937854], [45939008, 45939044], [45939672, 45940363]]	[[45931804, 45931863], [45932448, 45932513], [45935369, 45935489], [45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45937253, 45937327]]
ENST00000533151	[[45935395, 45935489], [45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45939008, 45939044], [45939250, 45939376]]	[[45935395, 45935489], [45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45939008, 45939044], [45939250, 45939362]]
ENST00000532554	[[45935673, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45939008, 45939044], [45939324, 45939418]]	None
ENST00000525192	[[45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45937253, 45937387], [45937777, 45937854], [45939008, 45939044], [45939324, 45939572]]	[[45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45937253, 45937327]]
ENST00000527371	[[45935814, 45936019], [45936154, 45936235], [45937018, 45937094]]	None
ENST00000525229	[[45937019, 45937119], [45937253, 45937387], [45937777, 45937854], [45939008, 45939044], [45939138, 45939379]]	[[45939203, 45939362]]
ENST00000528674	[[45937046, 45937119], [45937253, 45937387], [45937777, 45937854], [45938524, 45938692], [45939008, 45939044], [45939324, 45939631]]	[[45938571, 45938692], [45939008, 45939044], [45939324, 45939362]]
ENST00000529030	[[45937253, 45937387], [45937777, 45937854], [45938524, 45938692], [45939008, 45939044], [45939250, 45939629]]	[[45938657, 45938692], [45939008, 45939044], [45939250, 45939362]]
NM_004813	[[45931219, 45931863], [45932448, 45932513], [45935369, 45935489], [45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45937253, 45937387], [45937777, 45937854], [45939008, 45939044], [45939250, 45939674]]	[[45931804, 45931863], [45932448, 45932513], [45935369, 45935489], [45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45937253, 45937387], [45937777, 45937854], [45939008, 45939044], [45939250, 45939362]]
NM_057174	[[45931219, 45931728], [45932448, 45932513], [45935369, 45935489], [45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45937253, 45937387], [45937777, 45937854], [45939008, 45939044], [45939250, 45939674]]	[[45931639, 45931728], [45932448, 45932513], [45935369, 45935489], [45935681, 45935754], [45935866, 45936019], [45936154, 45936235], [45937018, 45937119], [45937253, 45937387], [45937777, 45937854], [45939008, 45939044], [45939250, 45939362]]

Promoter

Chrom	Start	End	Description
chr11	45939374	45939402	CAGE_peak_1_at_PEX16_5end
chr11	45939403	45939416	CAGE_peak_3_at_PEX16_5end
chr11	45939419	45939441	CAGE_peak_2_at_PEX16_5end
chr11	45939443	45939448	CAGE_peak_7_at_PEX16_5end
chr11	45939565	45939591	CAGE_peak_4_at_PEX16_5end
chr11	45939665	45939715	CAGE_peak_6_at_PEX16_5end
chr11	45940343	45940399	CAGE_peak_5_at_PEX16_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I045861	45861618	45862451	0.38	[{'connected_gene': 'MAPK8IP1', 'score': 17.45}, {'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.4}, {'connected_gene': 'LARGE2', 'score': 11.38}, {'connected_gene': 'PEX16', 'score': 11.38}, {'connected_gene': 'SLC35C1', 'score': 7.57}, {'connected_gene': 'CRY2', 'score': 0.39}]
chr11	GH11I045854	45854992	45861211	1.14	[{'connected_gene': 'MAPK8IP1', 'score': 29.27}, {'connected_gene': 'ENSG00000255498', 'score': 11.57}, {'connected_gene': 'C11orf94', 'score': 11.57}, {'connected_gene': 'LARGE2', 'score': 11.54}, {'connected_gene': 'PEX16', 'score': 11.54}, {'connected_gene': 'DKFZp779M0652', 'score': 11.47}, {'connected_gene': 'SLC35C1', 'score': 7.83}, {'connected_gene': 'CRY2', 'score': 0.39}]
chr11	GH11I045916	45916880	45920820	2.43	[{'connected_gene': 'PEX16', 'score': 550.77}, {'connected_gene': 'RPS10P19', 'score': 11.83}, {'connected_gene': 'ZNF408', 'score': 9.99}, {'connected_gene': 'LARGE2', 'score': 0.77}]
chr11	GH11I045944	45944528	45946769	0.43	[{'connected_gene': 'LARGE2', 'score': 12.55}, {'connected_gene': 'PEX16', 'score': 12.52}, {'connected_gene': 'ENSG00000255498', 'score': 12.49}, {'connected_gene': 'C11orf94', 'score': 12.49}, {'connected_gene': 'SLC35C1', 'score': 6.1}, {'connected_gene': 'PHF21A', 'score': 0.1}, {'connected_gene': 'ENSG00000254653', 'score': 0.09}]
chr11	GH11I045941	45941031	45943358	0.43	[{'connected_gene': 'LARGE2', 'score': 13.0}, {'connected_gene': 'PEX16', 'score': 13.0}, {'connected_gene': 'C11orf94', 'score': 12.95}, {'connected_gene': 'ENSG00000255498', 'score': 12.94}, {'connected_gene': 'PHF21A', 'score': 0.1}, {'connected_gene': 'ENSG00000254653', 'score': 0.09}]
chr11	GH11I045879	45879600	45882667	1.11	[{'connected_gene': 'ENSG00000255498', 'score': 12.99}, {'connected_gene': 'C11orf94', 'score': 12.99}, {'connected_gene': 'LARGE2', 'score': 12.95}, {'connected_gene': 'PEX16', 'score': 12.95}, {'connected_gene': 'MAPK8IP1', 'score': 10.52}, {'connected_gene': 'DKFZp779M0652', 'score': 6.39}, {'connected_gene': 'CRY2', 'score': 0.29}]
chr11	GH11I045865	45865616	45866813	0.2	[{'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.42}, {'connected_gene': 'LARGE2', 'score': 11.39}, {'connected_gene': 'PEX16', 'score': 11.39}, {'connected_gene': 'DKFZp779M0652', 'score': 7.49}, {'connected_gene': 'CRY2', 'score': 0.37}, {'connected_gene': 'MAPK8IP1', 'score': 0.37}]
chr11	GH11I045862	45862904	45863978	0.43	[{'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.42}, {'connected_gene': 'LARGE2', 'score': 11.38}, {'connected_gene': 'PEX16', 'score': 11.38}, {'connected_gene': 'CRY2', 'score': 0.37}, {'connected_gene': 'MAPK8IP1', 'score': 0.34}]