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
ENST00000508776	[[128702975, 128703216], [128703614, 128703812], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128754197]]	[[128703705, 128703812], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128754029]]
ENST00000439123	[[128702975, 128703216], [128703614, 128703812], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128754197]]	[[128703214, 128703216], [128703614, 128703812], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128754029]]
ENST00000296464	[[128703294, 128703812], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128761888]]	[[128703705, 128703812], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128754029]]
ENST00000508549	[[128703476, 128703812], [128715231, 128715289], [128716922, 128717063], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741624]]	[[128703705, 128703812], [128715231, 128715289], [128716922, 128717063], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741624]]
ENST00000505726	[[128704703, 128704835], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128754123]]	[[128704806, 128704835], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128754029]]
ENST00000515262	[[128734172, 128734630], [128739479, 128739575], [128741582, 128741676]]	None
NM_001317381	[[128702975, 128703216], [128703614, 128703812], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128755228]]	[[128703214, 128703216], [128703614, 128703812], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128754029]]
NM_001317383	[[128703363, 128703812], [128715231, 128715289], [128716922, 128717063], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128755228]]	[[128703705, 128703812], [128715231, 128715289], [128716922, 128717063], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128754029]]
NM_014278	[[128703363, 128703812], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128755228]]	[[128703705, 128703812], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128754029]]
NM_001317382	[[128704677, 128704835], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128755228]]	[[128704806, 128704835], [128715231, 128715289], [128716922, 128717063], [128719741, 128719864], [128722292, 128722392], [128722939, 128723073], [128724783, 128725028], [128725165, 128725242], [128726227, 128726379], [128726841, 128726948], [128729150, 128729284], [128732591, 128732791], [128739479, 128739575], [128741582, 128741720], [128743923, 128744049], [128744671, 128744779], [128748459, 128748579], [128751792, 128751954], [128753837, 128754029]]

Promoter

Chrom	Start	End	Description
chr4	128702946	128702958	CAGE_peak_5_at_HSPA4L_5end
chr4	128702969	128702984	CAGE_peak_3_at_HSPA4L_5end
chr4	128703425	128703496	CAGE_peak_1_at_HSPA4L_5end
chr4	128703504	128703507	CAGE_peak_2_at_HSPA4L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I127831	127831499	127831867	0.27	[{'connected_gene': 'ABHD18', 'score': 7.6}, {'connected_gene': 'HSPA4L', 'score': 1.57}, {'connected_gene': 'GC04P127838', 'score': 0.44}, {'connected_gene': 'RPL21P53', 'score': 0.37}]
chr4	GH04I128059	128059904	128063201	2.05	[{'connected_gene': 'LARP1B', 'score': 550.77}, {'connected_gene': 'GC04M128059', 'score': 550.77}, {'connected_gene': 'HSPA4L', 'score': 5.81}, {'connected_gene': 'INTU', 'score': 5.57}, {'connected_gene': 'ABHD18', 'score': 4.82}, {'connected_gene': 'RPL15P8', 'score': 0.44}]
chr4	GH04I127781	127781090	127785346	2.25	[{'connected_gene': 'HSPA4L', 'score': 559.8}, {'connected_gene': 'SLC25A31', 'score': 10.24}, {'connected_gene': 'INTU', 'score': 10.15}, {'connected_gene': 'ABHD18', 'score': 4.91}, {'connected_gene': 'ENSG00000282855', 'score': 0.31}]
chr4	GH04I128159	128159099	128164868	0.95	[{'connected_gene': 'HSPA4L', 'score': 5.37}, {'connected_gene': 'INTU', 'score': 5.04}, {'connected_gene': 'PGRMC2', 'score': 4.57}, {'connected_gene': 'FOSL1P1', 'score': 0.44}, {'connected_gene': 'LARP1B', 'score': 0.15}]
chr4	GH04I127779	127779401	127779600	0.31	[{'connected_gene': 'HSPA4L', 'score': 0.77}, {'connected_gene': 'LOC105377414', 'score': 0.77}]
chr4	GH04I128191	128191201	128192000	0.94	[{'connected_gene': 'HSPA4L', 'score': 5.06}, {'connected_gene': 'FOSL1P1', 'score': 0.28}, {'connected_gene': 'PGRMC2', 'score': 0.15}, {'connected_gene': 'LARP1B', 'score': 0.12}]
chr4	GH04I127879	127879586	127882134	2.07	[{'connected_gene': 'PLK4', 'score': 550.77}, {'connected_gene': 'HSPA4L', 'score': 8.02}, {'connected_gene': 'ABHD18', 'score': 4.23}, {'connected_gene': 'ENSG00000261668', 'score': 0.28}]