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
ENST00000280653	[[179065479, 179065598], [179066632, 179066751], [179069687, 179069823], [179076627, 179076790], [179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085380], [179085823, 179085891], [179093007, 179093129], [179094829, 179094956], [179095131, 179095236], [179103356, 179103509], [179104220, 179104417], [179107791, 179107926], [179109768, 179111006]]	[[179066639, 179066751], [179069687, 179069823], [179076627, 179076790], [179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085380], [179085823, 179085891], [179093007, 179093129], [179094829, 179094956], [179095131, 179095236], [179103356, 179103509], [179104220, 179104417], [179107791, 179107926], [179109768, 179109847]]
ENST00000471841	[[179065479, 179065598], [179066632, 179066751], [179069687, 179069823], [179076627, 179076790], [179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085380], [179085823, 179085891], [179093007, 179093129], [179094829, 179094956], [179095131, 179095236], [179096128, 179096231], [179096372, 179096602], [179103356, 179103509], [179104220, 179104417], [179107791, 179107926], [179109768, 179112719]]	[[179066639, 179066751], [179069687, 179069823], [179076627, 179076790], [179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085380], [179085823, 179085891], [179093007, 179093129], [179094829, 179094956], [179095131, 179095236], [179096128, 179096231], [179096372, 179096602], [179103356, 179103509], [179104220, 179104417], [179107791, 179107926], [179109768, 179109847]]
ENST00000357390	[[179065522, 179065598], [179066632, 179066751], [179069687, 179069823], [179076627, 179076790], [179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085380], [179085823, 179085891], [179093007, 179093129], [179095131, 179095236], [179096128, 179096231], [179096372, 179096602], [179103356, 179103509], [179104220, 179104417], [179107791, 179107926], [179109768, 179110813]]	[[179066639, 179066751], [179069687, 179069823], [179076627, 179076790], [179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085380], [179085823, 179085891], [179093007, 179093129], [179095131, 179095147]]
ENST00000467174	[[179065837, 179065909], [179066632, 179066751], [179069687, 179069823], [179076627, 179076790], [179080145, 179080198]]	[[179066639, 179066751], [179069687, 179069823], [179076627, 179076790], [179080145, 179080198]]
ENST00000263969	[[179066548, 179066751], [179069687, 179069823], [179076627, 179076790], [179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085380], [179085823, 179085891], [179093007, 179093129], [179094829, 179094956], [179095131, 179095236], [179096128, 179096231], [179096372, 179096602], [179103356, 179103509], [179104220, 179104417], [179107791, 179107926], [179109768, 179110284]]	[[179066639, 179066751], [179069687, 179069823], [179076627, 179076790], [179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085380], [179085823, 179085891], [179093007, 179093129], [179094829, 179094956], [179095131, 179095236], [179096128, 179096231], [179096372, 179096602], [179103356, 179103509], [179104220, 179104417], [179107791, 179107926], [179109768, 179109847]]
ENST00000489329	[[179077507, 179077648], [179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085286]]	[[179080175, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085286]]
ENST00000474903	[[179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085380], [179085823, 179085891], [179093007, 179093129], [179094829, 179094956], [179095131, 179095236], [179103356, 179103509], [179104220, 179104417], [179107791, 179107926], [179109768, 179110284]]	[[179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085380], [179085823, 179085891], [179093007, 179093129], [179094829, 179094956], [179095131, 179095236], [179103356, 179103509], [179104220, 179104417], [179107791, 179107926], [179109768, 179109847]]
ENST00000466287	[[179094709, 179094956], [179095131, 179095220]]	None
ENST00000482661	[[179094849, 179095236], [179096128, 179096231], [179096372, 179096578]]	None
ENST00000480636	[[179094917, 179094956], [179095131, 179095236], [179096128, 179096602], [179103356, 179103509], [179104220, 179104286]]	None
NM_033540	[[179065479, 179065598], [179066632, 179066751], [179069687, 179069823], [179076627, 179076790], [179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085380], [179085823, 179085891], [179093007, 179093129], [179094829, 179094956], [179095131, 179095236], [179096128, 179096231], [179096372, 179096602], [179103356, 179103509], [179104220, 179104417], [179107791, 179107926], [179109768, 179111014]]	[[179066639, 179066751], [179069687, 179069823], [179076627, 179076790], [179080145, 179080270], [179082084, 179082193], [179082905, 179083013], [179085226, 179085380], [179085823, 179085891], [179093007, 179093129], [179094829, 179094956], [179095131, 179095236], [179096128, 179096231], [179096372, 179096602], [179103356, 179103509], [179104220, 179104417], [179107791, 179107926], [179109768, 179109847]]

Promoter

Chrom	Start	End	Description
chr3	179065474	179065530	CAGE_peak_1_at_MFN1_5end
chr3	179065538	179065557	CAGE_peak_2_at_MFN1_5end
chr3	179077226	179077228	CAGE_peak_3_at_MFN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I179473	179473108	179474599	0.8	[{'connected_gene': 'GNB4', 'score': 15.02}, {'connected_gene': 'ENSG00000239255', 'score': 12.44}, {'connected_gene': 'MFN1', 'score': 4.38}, {'connected_gene': 'MTHFD2P7', 'score': 0.44}, {'connected_gene': 'PIR62273', 'score': 0.39}]
chr3	GH03I179448	179448964	179453345	1.94	[{'connected_gene': 'GNB4', 'score': 573.52}, {'connected_gene': 'ENSG00000239255', 'score': 550.77}, {'connected_gene': 'MFN1', 'score': 8.71}, {'connected_gene': 'ENSG00000272699', 'score': 0.25}]
chr3	GH03I179436	179436801	179439399	0.87	[{'connected_gene': 'MFN1', 'score': 17.46}, {'connected_gene': 'GNB4', 'score': 0.39}, {'connected_gene': 'ENSG00000272699', 'score': 0.29}]
chr3	GH03I179346	179346345	179349751	2.03	[{'connected_gene': 'MFN1', 'score': 577.82}, {'connected_gene': 'ZNF639', 'score': 18.72}, {'connected_gene': 'ENSG00000242539', 'score': 11.84}]
chr3	GH03I179321	179321381	179325640	2.03	[{'connected_gene': 'ZNF639', 'score': 567.47}, {'connected_gene': 'MFN1', 'score': 45.29}, {'connected_gene': 'ENSG00000242539', 'score': 12.25}, {'connected_gene': 'LOC101928739', 'score': 10.5}, {'connected_gene': 'PIK3CA', 'score': 10.5}, {'connected_gene': 'ENSG00000260743', 'score': 0.37}]
chr3	GH03I179603	179603388	179605805	2.03	[{'connected_gene': 'NDUFB5', 'score': 559.58}, {'connected_gene': 'MRPL47', 'score': 557.14}, {'connected_gene': 'TTC14', 'score': 12.09}, {'connected_gene': 'USP13', 'score': 10.94}, {'connected_gene': 'ACTL6A', 'score': 10.15}, {'connected_gene': 'MFN1', 'score': 10.07}, {'connected_gene': 'ENSG00000272660', 'score': 0.34}]
chr3	GH03I179260	179260560	179262124	1.75	[{'connected_gene': 'LRRFIP1P1', 'score': 550.77}, {'connected_gene': 'ZNF639', 'score': 11.33}, {'connected_gene': 'GNB4', 'score': 1.69}, {'connected_gene': 'MFN1', 'score': 1.6}, {'connected_gene': 'PIK3CA', 'score': 1.39}, {'connected_gene': 'KCNMB3', 'score': 0.44}, {'connected_gene': 'GC03P179238', 'score': 0.34}]