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
ENST00000569532	[[18995255, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19071318]]	[[18995385, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070987]]
ENST00000304381	[[18995255, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070816], [19073099, 19074503]]	[[18995385, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070816], [19073099, 19073165]]
ENST00000568469	[[18995344, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047132], [19049199, 19049369], [19051610, 19051768], [19056205, 19056461]]	None
ENST00000421369	[[18995608, 18995903], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070816], [19073099, 19075264]]	[[19027790, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070816], [19073099, 19073165]]
ENST00000561963	[[19044837, 19045139], [19046997, 19047132], [19049195, 19049352]]	None
NM_001300732	[[18995255, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19071318]]	[[18995385, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070987]]
NM_001324268	[[18995255, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070816], [19073099, 19075264]]	[[19049216, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070816], [19073099, 19073165]]
NR_136733	[[18995255, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047132], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19070737, 19070816], [19073099, 19075264]]	None
NM_001324263	[[18995255, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047132], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070816], [19073099, 19075264]]	[[19049216, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070816], [19073099, 19073165]]
NM_001324265	[[18995255, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19070737, 19070816], [19073099, 19075264]]	[[18995385, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19070737, 19070816], [19073099, 19073165]]
NM_024847	[[18995255, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070816], [19073099, 19075264]]	[[18995385, 18995452], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070816], [19073099, 19073165]]
NM_001160364	[[18995608, 18995903], [19020493, 19020737], [19027771, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070816], [19073099, 19075264]]	[[19027790, 19027920], [19032950, 19033118], [19034434, 19034517], [19041545, 19041691], [19046997, 19047145], [19049195, 19049369], [19051610, 19051768], [19056205, 19056323], [19056662, 19056760], [19058384, 19058571], [19063007, 19063138], [19067863, 19068019], [19070737, 19070816], [19073099, 19073165]]

Promoter

Chrom	Start	End	Description
chr16	18995249	18995261	CAGE_peak_2_at_TMC7_5end
chr16	18995264	18995351	CAGE_peak_1_at_TMC7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I018997	18997031	19000283	1.17	[{'connected_gene': 'TMC7', 'score': 6.69}, {'connected_gene': 'LOC102723385', 'score': 6.34}, {'connected_gene': 'COQ7', 'score': 5.63}, {'connected_gene': 'GC16P019012', 'score': 0.39}]
chr16	GH16I018988	18988503	18989914	1.1	[{'connected_gene': 'TMC7', 'score': 6.0}, {'connected_gene': 'COQ7', 'score': 5.79}, {'connected_gene': 'GC16P019012', 'score': 0.34}]
chr16	GH16I018983	18983319	18984995	2.02	[{'connected_gene': 'TMC7', 'score': 556.73}, {'connected_gene': 'ENSG00000205746', 'score': 12.81}, {'connected_gene': 'NPIPA8', 'score': 12.39}, {'connected_gene': 'PKD1P5', 'score': 11.42}, {'connected_gene': 'COQ7', 'score': 6.23}, {'connected_gene': 'LOC102723385', 'score': 5.28}, {'connected_gene': 'GC16P019012', 'score': 0.31}]
chr16	GH16I019007	19007699	19009088	0.78	[{'connected_gene': 'TMC7', 'score': 7.45}, {'connected_gene': 'GC16P019012', 'score': 0.77}]
chr16	GH16I018961	18961610	18963188	0.43	[{'connected_gene': 'RPS15A', 'score': 4.94}, {'connected_gene': 'TMC7', 'score': 0.34}, {'connected_gene': 'ENSG00000260352', 'score': 0.28}]
chr16	GH16I018958	18958896	18960195	0.84	[{'connected_gene': 'RPS15A', 'score': 4.81}, {'connected_gene': 'TMC7', 'score': 0.34}, {'connected_gene': 'ENSG00000260352', 'score': 0.29}]
chr16	GH16I018945	18945682	18946997	1.15	[{'connected_gene': 'PKD1P5', 'score': 13.73}, {'connected_gene': 'NPIPA8', 'score': 13.04}, {'connected_gene': 'ENSG00000205746', 'score': 12.07}, {'connected_gene': 'TMC7', 'score': 11.76}, {'connected_gene': 'ARL6IP1', 'score': 11.34}, {'connected_gene': 'COQ7', 'score': 10.54}, {'connected_gene': 'ENSG00000260352', 'score': 0.37}]
chr16	GH16I018936	18936717	18937557	0.89	[{'connected_gene': 'ARL6IP1', 'score': 10.95}, {'connected_gene': 'ENSG00000260352', 'score': 0.39}, {'connected_gene': 'GC16P018887', 'score': 0.25}, {'connected_gene': 'TMC7', 'score': 0.25}]
chr16	GH16I018955	18955801	18956800	0.74	[{'connected_gene': 'SMG1', 'score': 12.61}, {'connected_gene': 'ARL6IP1', 'score': 5.41}, {'connected_gene': 'TMC7', 'score': 0.31}, {'connected_gene': 'ENSG00000260352', 'score': 0.31}]
chr16	GH16I018969	18969001	18969665	1.13	[{'connected_gene': 'SMG1', 'score': 12.62}, {'connected_gene': 'RNU6-1340P', 'score': 11.5}, {'connected_gene': 'COQ7', 'score': 11.3}, {'connected_gene': 'TMC7', 'score': 6.25}, {'connected_gene': 'ENSG00000260352', 'score': 0.26}]
chr16	GH16I019027	19027073	19028571	0.38	[{'connected_gene': 'RNU6-1340P', 'score': 0.37}, {'connected_gene': 'GC16M019058', 'score': 0.29}, {'connected_gene': 'TMC7', 'score': 0.26}]
chr16	GH16I019001	19001114	19002913	0.58	[{'connected_gene': 'COQ7', 'score': 5.94}, {'connected_gene': 'GC16P019012', 'score': 0.39}, {'connected_gene': 'TMC7', 'score': 0.37}]
chr16	GH16I019005	19005202	19006873	1.16	[{'connected_gene': 'COQ7', 'score': 14.43}, {'connected_gene': 'RPS15A', 'score': 10.65}, {'connected_gene': 'TMC7', 'score': 8.1}, {'connected_gene': 'GC16P019012', 'score': 0.44}]
chr16	GH16I019066	19066548	19069103	2.09	[{'connected_gene': 'COQ7', 'score': 561.58}, {'connected_gene': 'LOC102723385', 'score': 560.96}, {'connected_gene': 'ENSG00000261357', 'score': 550.77}, {'connected_gene': 'TMC7', 'score': 5.55}, {'connected_gene': 'GC16M019068', 'score': 0.39}]
chr16	GH16I018933	18932199	18932568	0.76	[{'connected_gene': 'ENSG00000260352', 'score': 0.44}, {'connected_gene': 'GC16P018887', 'score': 0.26}, {'connected_gene': 'TMC7', 'score': 0.23}]
chr16	GH16I018930	18930601	18931000	0.2	[{'connected_gene': 'ENSG00000260352', 'score': 0.77}, {'connected_gene': 'GC16P018887', 'score': 0.26}, {'connected_gene': 'TMC7', 'score': 0.23}]
chr16	GH16I018932	18932800	18933001	0.31	[{'connected_gene': 'ENSG00000260352', 'score': 0.44}, {'connected_gene': 'GC16P018887', 'score': 0.25}, {'connected_gene': 'TMC7', 'score': 0.23}]
chr16	GH16I018931	18931741	18932166	0.6	[{'connected_gene': 'ENSG00000260352', 'score': 0.44}, {'connected_gene': 'GC16P018887', 'score': 0.26}, {'connected_gene': 'TMC7', 'score': 0.23}]