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
ENST00000313334	[[52521796, 52522051], [52525506, 52525573], [52530496, 52530610], [52549011, 52549213], [52551783, 52551843], [52552383, 52556388]]	[[52525519, 52525573], [52530496, 52530610], [52549011, 52549213], [52551783, 52551843], [52552383, 52552430]]
ENST00000477828	[[52521870, 52522051], [52525506, 52525573], [52526099, 52526331], [52530496, 52530610], [52549011, 52549213], [52551783, 52551843], [52552383, 52552419]]	[[52525519, 52525573], [52526099, 52526210]]
ENST00000489308	[[52521942, 52522051], [52525506, 52525573], [52530496, 52530610], [52551783, 52551843], [52552383, 52552827]]	[[52525519, 52525573], [52530496, 52530610], [52551783, 52551843], [52552383, 52552392]]
ENST00000526132	[[52521943, 52522051], [52530496, 52530610], [52530958, 52531080], [52551783, 52551843], [52552383, 52552546]]	None
ENST00000472944	[[52521975, 52522051], [52530496, 52530610], [52549011, 52549213], [52551783, 52551843], [52552383, 52554090]]	[[52549017, 52549213], [52551783, 52551843], [52552383, 52552430]]
ENST00000524414	[[52521985, 52522051], [52525506, 52525573], [52530496, 52530971]]	None
ENST00000484036	[[52521992, 52522051], [52525506, 52525573], [52530496, 52530610], [52549011, 52549213], [52551783, 52552282]]	[[52525519, 52525573], [52530496, 52530610], [52549011, 52549213], [52551783, 52551851]]
ENST00000533836	[[52522003, 52522051], [52525506, 52525573], [52530496, 52530610], [52536821, 52536999], [52549011, 52549172]]	None
NM_001136497	[[52521856, 52522051], [52530496, 52530610], [52549011, 52549213], [52551783, 52551843], [52552383, 52556388]]	[[52549017, 52549213], [52551783, 52551843], [52552383, 52552430]]
NM_001243767	[[52521856, 52522051], [52525506, 52525573], [52530496, 52530610], [52551783, 52551843], [52552383, 52556388]]	[[52525519, 52525573], [52530496, 52530610], [52551783, 52551843], [52552383, 52552392]]
NM_152265	[[52521856, 52522051], [52525506, 52525573], [52530496, 52530610], [52549011, 52549213], [52551783, 52551843], [52552383, 52556388]]	[[52525519, 52525573], [52530496, 52530610], [52549011, 52549213], [52551783, 52551843], [52552383, 52552430]]

Promoter

Chrom	Start	End	Description
chr1	52521817	52521837	CAGE_peak_4_at_BTF3L4_5end
chr1	52521928	52521948	CAGE_peak_2_at_BTF3L4_5end
chr1	52521957	52522010	CAGE_peak_1_at_BTF3L4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I052053	52053640	52058017	2.11	[{'connected_gene': 'TXNDC12', 'score': 560.22}, {'connected_gene': 'PIR60864', 'score': 550.77}, {'connected_gene': 'GC01M052055', 'score': 550.77}, {'connected_gene': 'BTF3L4', 'score': 550.77}, {'connected_gene': 'LOC100190934', 'score': 18.42}, {'connected_gene': 'ENSG00000230953', 'score': 12.85}, {'connected_gene': 'ZCCHC11', 'score': 12.33}, {'connected_gene': 'ENSG00000223390', 'score': 12.03}, {'connected_gene': 'KTI12', 'score': 12.03}, {'connected_gene': 'ZFYVE9', 'score': 11.56}, {'connected_gene': 'TTC39A', 'score': 5.59}, {'connected_gene': 'TXNDC12-AS1', 'score': 0.77}]
chr1	GH01I052550	52550115	52555682	2.3	[{'connected_gene': 'ZCCHC11', 'score': 583.32}, {'connected_gene': 'ENSG00000272371', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 26.88}, {'connected_gene': 'ENSG00000266993', 'score': 24.82}, {'connected_gene': 'CC2D1B', 'score': 21.8}, {'connected_gene': 'RPS13P2', 'score': 20.53}, {'connected_gene': 'ENSG00000230953', 'score': 19.93}, {'connected_gene': 'GPX7', 'score': 19.81}, {'connected_gene': 'C1orf123', 'score': 10.3}, {'connected_gene': 'PRPF38A', 'score': 9.85}, {'connected_gene': 'SHISAL2A', 'score': 2.5}, {'connected_gene': 'ZYG11B', 'score': 2.15}, {'connected_gene': 'BTF3L4', 'score': 1.41}, {'connected_gene': 'GC01P052555', 'score': 0.77}, {'connected_gene': 'LOC105378723', 'score': 0.34}]
chr1	GH01I052032	52032214	52034577	2.04	[{'connected_gene': 'KTI12', 'score': 564.63}, {'connected_gene': 'ENSG00000223390', 'score': 550.77}, {'connected_gene': 'ZCCHC11', 'score': 25.72}, {'connected_gene': 'ENSG00000266993', 'score': 22.36}, {'connected_gene': 'CC2D1B', 'score': 18.8}, {'connected_gene': 'TXNDC12', 'score': 11.94}, {'connected_gene': 'BTF3L4', 'score': 11.94}, {'connected_gene': 'ORC1', 'score': 10.82}, {'connected_gene': 'LOC100190934', 'score': 8.61}]
chr1	GH01I052059	52059001	52059800	0.52	[{'connected_gene': 'LOC100190934', 'score': 9.22}, {'connected_gene': 'PIR60864', 'score': 0.77}, {'connected_gene': 'BTF3L4', 'score': 0.77}, {'connected_gene': 'PIR34571', 'score': 0.31}]