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
ENST00000318063	[[16884746, 16885169], [16921592, 16921746], [16927196, 16927228], [16935291, 16935370], [16939201, 16939249], [16942744, 16942827], [16944472, 16944544], [16948054, 16948093], [16955966, 16956062], [16961899, 16962000], [16962921, 16963093], [16971601, 16971710], [16973951, 16974109], [16976215, 16976284], [16977796, 16980153]]	[[16884788, 16885169], [16921592, 16921746], [16927196, 16927228], [16935291, 16935370], [16939201, 16939249], [16942744, 16942827], [16944472, 16944544], [16948054, 16948093], [16955966, 16956062], [16961899, 16962000], [16962921, 16963093], [16971601, 16971710], [16973951, 16974109], [16976215, 16976284]]
ENST00000522235	[[16885086, 16885169], [16921592, 16921746], [16935291, 16935370]]	None
ENST00000519044	[[16921638, 16921746], [16927196, 16927228], [16935291, 16935370], [16939201, 16939249], [16942744, 16942827], [16944472, 16944544], [16955966, 16956062], [16961899, 16962000], [16962921, 16963093], [16971601, 16971710], [16973951, 16974109], [16976215, 16976284], [16977796, 16977799]]	[[16921638, 16921746], [16927196, 16927228], [16935291, 16935370], [16939201, 16939249], [16942744, 16942827], [16944472, 16944544], [16955966, 16956062], [16961899, 16962000], [16962921, 16963093], [16971601, 16971710], [16973951, 16974109], [16976215, 16976284]]
ENST00000517398	[[16921693, 16921746], [16927196, 16927228], [16935291, 16935370], [16939201, 16939476]]	[[16921693, 16921746], [16927196, 16927228], [16935291, 16935370], [16939201, 16939338]]
ENST00000517447	[[16921722, 16921746], [16927196, 16927228], [16935291, 16935370], [16939201, 16939249], [16942744, 16942827], [16944472, 16944544], [16948054, 16948193]]	None
ENST00000519866	[[16959951, 16960238], [16961899, 16962000], [16962921, 16963092]]	None
NM_181723	[[16884746, 16885169], [16921592, 16921746], [16927196, 16927228], [16935291, 16935370], [16939201, 16939249], [16942744, 16942827], [16944472, 16944544], [16948054, 16948093], [16955966, 16956062], [16961899, 16962000], [16962921, 16963093], [16971601, 16971710], [16973951, 16974109], [16976215, 16976284], [16977796, 16980148]]	[[16884788, 16885169], [16921592, 16921746], [16927196, 16927228], [16935291, 16935370], [16939201, 16939249], [16942744, 16942827], [16944472, 16944544], [16948054, 16948093], [16955966, 16956062], [16961899, 16962000], [16962921, 16963093], [16971601, 16971710], [16973951, 16974109], [16976215, 16976284]]

Promoter

Chrom	Start	End	Description
chr8	16884740	16884804	CAGE_peak_1_at_EFHA2_5end
chr8	16884834	16884843	CAGE_peak_2_at_EFHA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I017494	17494744	17499620	2.25	[{'connected_gene': 'SLC7A2', 'score': 550.77}, {'connected_gene': 'ENSG00000280453', 'score': 550.77}, {'connected_gene': 'LOC100133073', 'score': 60.53}, {'connected_gene': 'ENSG00000249258', 'score': 46.4}, {'connected_gene': 'CNOT7', 'score': 42.32}, {'connected_gene': 'MICU3', 'score': 13.59}, {'connected_gene': 'MTUS1', 'score': 12.02}, {'connected_gene': 'ENSG00000253671', 'score': 11.61}, {'connected_gene': 'ENSG00000253944', 'score': 10.35}, {'connected_gene': 'NAT2', 'score': 5.2}, {'connected_gene': 'ENSG00000279271', 'score': 0.77}, {'connected_gene': 'GC08M017429', 'score': 0.44}]
chr8	GH08I017155	17155172	17159659	1.97	[{'connected_gene': 'ZDHHC2', 'score': 591.44}, {'connected_gene': 'MICU3', 'score': 13.74}, {'connected_gene': 'MTMR7', 'score': 12.35}, {'connected_gene': 'GC08P017223', 'score': 0.2}]
chr8	GH08I017090	17090864	17092403	0.38	[{'connected_gene': 'ZDHHC2', 'score': 10.86}, {'connected_gene': 'MICU3', 'score': 5.22}, {'connected_gene': 'GC08P017125', 'score': 0.29}]
chr8	GH08I017082	17082254	17084136	0.49	[{'connected_gene': 'ZDHHC2', 'score': 10.78}, {'connected_gene': 'MICU3', 'score': 5.57}, {'connected_gene': 'GC08P017125', 'score': 0.26}]
chr8	GH08I017255	17255512	17256593	0.77	[{'connected_gene': 'PCM1', 'score': 15.43}, {'connected_gene': 'ZDHHC2', 'score': 15.19}, {'connected_gene': 'MICU3', 'score': 13.63}, {'connected_gene': 'CNOT7', 'score': 0.44}, {'connected_gene': 'VPS37A', 'score': 0.44}, {'connected_gene': 'LOC102724838', 'score': 0.17}]
chr8	GH08I017672	17672317	17677724	1.31	[{'connected_gene': 'MICU3', 'score': 12.19}, {'connected_gene': 'PDGFRL', 'score': 11.46}, {'connected_gene': 'MTUS1', 'score': 7.16}, {'connected_gene': 'MIR548V', 'score': 0.44}, {'connected_gene': 'ENSG00000277466', 'score': 0.18}]
chr8	GH08I017613	17613010	17620599	1.42	[{'connected_gene': 'MICU3', 'score': 32.59}, {'connected_gene': 'PCM1', 'score': 23.58}, {'connected_gene': 'PDGFRL', 'score': 17.19}, {'connected_gene': 'ENSG00000249258', 'score': 10.94}, {'connected_gene': 'MTUS1', 'score': 6.6}, {'connected_gene': 'FGF20', 'score': 4.55}, {'connected_gene': 'ENSG00000277466', 'score': 0.34}, {'connected_gene': 'MIR548V', 'score': 0.21}]
chr8	GH08I017050	17050805	17054165	0.9	[{'connected_gene': 'MICU3', 'score': 19.03}, {'connected_gene': 'FGF20', 'score': 11.17}, {'connected_gene': 'GC08P017125', 'score': 0.19}]
chr8	GH08I017012	17012923	17013640	0.69	[{'connected_gene': 'MICU3', 'score': 0.39}, {'connected_gene': 'FGF20', 'score': 0.39}]
chr8	GH08I017026	17026352	17028601	1.95	[{'connected_gene': 'MICU3', 'score': 550.77}, {'connected_gene': 'GC08P017125', 'score': 0.15}]
chr8	GH08I017074	17074866	17075734	0.2	[{'connected_gene': 'MICU3', 'score': 5.49}, {'connected_gene': 'GC08P017125', 'score': 0.25}]
chr8	GH08I017070	17070412	17071638	0.31	[{'connected_gene': 'MICU3', 'score': 0.26}, {'connected_gene': 'GC08P017125', 'score': 0.23}]
chr8	GH08I017049	17049532	17050038	0.73	[{'connected_gene': 'FGF20', 'score': 11.08}, {'connected_gene': 'MICU3', 'score': 5.57}, {'connected_gene': 'GC08P017125', 'score': 0.18}]
chr8	GH08I016825	16825291	16827506	1.21	[{'connected_gene': 'ENSG00000249258', 'score': 56.35}, {'connected_gene': 'MICU3', 'score': 47.42}, {'connected_gene': 'MTUS1', 'score': 20.28}, {'connected_gene': 'ZDHHC2', 'score': 16.41}, {'connected_gene': 'ENSG00000253671', 'score': 11.58}, {'connected_gene': 'CNOT7', 'score': 10.78}, {'connected_gene': 'ENSG00000253944', 'score': 10.31}, {'connected_gene': 'GC08M016797', 'score': 0.39}, {'connected_gene': 'RN7SL474P', 'score': 0.28}, {'connected_gene': 'ENSG00000253496', 'score': 0.17}, {'connected_gene': 'LOC105379297', 'score': 0.17}]