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
ENST00000368977	[[108616097, 108616422], [108645028, 108645252], [108668191, 108668243], [108676857, 108676959], [108677893, 108678024], [108687436, 108687536], [108723199, 108723258], [108768416, 108768499], [108798067, 108798138], [108798394, 108798495], [108831414, 108831555], [108840899, 108841013], [108843499, 108847204]]	[[108616283, 108616422], [108645028, 108645252], [108668191, 108668243], [108676857, 108676959], [108677893, 108678024], [108687436, 108687536], [108723199, 108723258], [108768416, 108768499], [108798067, 108798138], [108798394, 108798495], [108831414, 108831555], [108840899, 108841013], [108843499, 108843628]]
ENST00000430458	[[108616194, 108616422], [108645028, 108645252], [108665978, 108666065], [108668191, 108668194]]	None
ENST00000421954	[[108616404, 108616422], [108676857, 108676959], [108677893, 108678024], [108687436, 108687536], [108723199, 108723258], [108768416, 108768499], [108798067, 108798138], [108798394, 108798495], [108831414, 108831555], [108840899, 108841013], [108843499, 108844320]]	[[108616404, 108616422], [108676857, 108676959], [108677893, 108678024], [108687436, 108687536], [108723199, 108723258], [108768416, 108768499], [108798067, 108798138], [108798394, 108798495], [108831414, 108831555], [108840899, 108841013], [108843499, 108843628]]
ENST00000437715	[[108616956, 108617083], [108640820, 108640995], [108645028, 108645252], [108668191, 108668243], [108676857, 108676959], [108677893, 108677955]]	[[108640955, 108640995], [108645028, 108645252], [108668191, 108668243], [108676857, 108676959], [108677893, 108677955]]
ENST00000431865	[[108677893, 108678024], [108687436, 108687536], [108768416, 108768499], [108798067, 108798138], [108798394, 108798495], [108831414, 108831555], [108840899, 108841013], [108843499, 108843537]]	[[108677893, 108678024], [108687436, 108687536], [108768416, 108768427]]
ENST00000486863	[[108798181, 108798495], [108840899, 108843668]]	None
ENST00000481842	[[108844339, 108844767], [108847845, 108847999]]	None

Promoter

Chrom	Start	End	Description
chr6	108616054	108616100	CAGE_peak_2_at_LACE1_5end
chr6	108616151	108616187	CAGE_peak_3_at_LACE1_5end
chr6	108616243	108616281	CAGE_peak_1_at_LACE1_5end
chr6	108798423	108798430	CAGE_peak_10_at_LACE1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I108310	108310621	108311871	0.31	[{'connected_gene': 'SNX3', 'score': 10.87}, {'connected_gene': 'OSTM1', 'score': 9.86}, {'connected_gene': 'NR2E1', 'score': 9.85}, {'connected_gene': 'AFG1L', 'score': 5.68}, {'connected_gene': 'RPL36AP24', 'score': 0.44}]
chr6	GH06I108301	108301175	108303498	0.4	[{'connected_gene': 'SNX3', 'score': 12.41}, {'connected_gene': 'OSTM1', 'score': 10.39}, {'connected_gene': 'NR2E1', 'score': 10.38}, {'connected_gene': 'SEC63', 'score': 9.25}, {'connected_gene': 'AFG1L', 'score': 5.21}, {'connected_gene': 'RPL36AP24', 'score': 0.37}]
chr6	GH06I108476	108476641	108477190	0.4	[{'connected_gene': 'SNX3', 'score': 10.2}, {'connected_gene': 'OSTM1', 'score': 9.81}, {'connected_gene': 'NR2E1', 'score': 9.81}, {'connected_gene': 'SEC63', 'score': 9.43}, {'connected_gene': 'GC06P108423', 'score': 0.23}, {'connected_gene': 'GC06P108424', 'score': 0.23}, {'connected_gene': 'ENSG00000271608', 'score': 0.19}, {'connected_gene': 'AFG1L', 'score': 0.09}]
chr6	GH06I108360	108360722	108362262	0.9	[{'connected_gene': 'SNX3', 'score': 10.95}, {'connected_gene': 'OSTM1', 'score': 10.48}, {'connected_gene': 'NR2E1', 'score': 10.48}, {'connected_gene': 'LOC100506224', 'score': 0.39}, {'connected_gene': 'ENSG00000238055', 'score': 0.26}, {'connected_gene': 'LOC105377932', 'score': 0.25}, {'connected_gene': 'AFG1L', 'score': 0.2}]
chr6	GH06I108311	108311901	108313918	0.8	[{'connected_gene': 'SNX3', 'score': 10.85}, {'connected_gene': 'OSTM1', 'score': 9.93}, {'connected_gene': 'NR2E1', 'score': 9.93}, {'connected_gene': 'RPL36AP24', 'score': 0.44}, {'connected_gene': 'AFG1L', 'score': 0.37}]
chr6	GH06I108298	108298443	108300842	0.46	[{'connected_gene': 'SNX3', 'score': 12.43}, {'connected_gene': 'AFG1L', 'score': 0.77}, {'connected_gene': 'RPL36AP24', 'score': 0.37}]
chr6	GH06I108403	108403337	108403486	0.2	[{'connected_gene': 'SNX3', 'score': 10.92}, {'connected_gene': 'LOC105377932', 'score': 0.77}, {'connected_gene': 'RNU6-770P', 'score': 0.39}, {'connected_gene': 'AFG1L', 'score': 0.14}]
chr6	GH06I108941	108941940	108949231	1.21	[{'connected_gene': 'SMPD2', 'score': 15.37}, {'connected_gene': 'ARMC2-AS1', 'score': 12.03}, {'connected_gene': 'ZBTB24', 'score': 11.95}, {'connected_gene': 'RNU6-653P', 'score': 11.44}, {'connected_gene': 'LOC105377929', 'score': 10.38}, {'connected_gene': 'ARMC2', 'score': 9.46}, {'connected_gene': 'AFG1L', 'score': 5.1}, {'connected_gene': 'PIR34191', 'score': 0.34}]
chr6	GH06I108348	108348216	108352281	0.95	[{'connected_gene': 'OSTM1', 'score': 10.25}, {'connected_gene': 'NR2E1', 'score': 10.25}, {'connected_gene': 'LOC100506224', 'score': 0.34}, {'connected_gene': 'ENSG00000238055', 'score': 0.29}, {'connected_gene': 'AFG1L', 'score': 0.22}]
chr6	GH06I108293	108293927	108296308	2.1	[{'connected_gene': 'AFG1L', 'score': 556.08}, {'connected_gene': 'SNX3', 'score': 12.45}, {'connected_gene': 'SEC63', 'score': 9.92}, {'connected_gene': 'RPL36AP24', 'score': 0.34}]
chr6	GH06I108329	108329764	108332983	0.66	[{'connected_gene': 'AFG1L', 'score': 5.45}, {'connected_gene': 'ENSG00000238055', 'score': 0.39}, {'connected_gene': 'LOC100506224', 'score': 0.26}]
chr6	GH06I108451	108451917	108455269	0.63	[{'connected_gene': 'FOXO3', 'score': 4.5}, {'connected_gene': 'ENSG00000260273', 'score': 4.4}, {'connected_gene': 'GC06P108423', 'score': 0.29}, {'connected_gene': 'GC06P108424', 'score': 0.29}, {'connected_gene': 'ENSG00000271608', 'score': 0.15}, {'connected_gene': 'AFG1L', 'score': 0.1}]
chr6	GH06I108407	108407029	108407171	0.27	[{'connected_gene': 'LOC105377932', 'score': 550.77}, {'connected_gene': 'ARMC2', 'score': 1.75}, {'connected_gene': 'RNU6-770P', 'score': 0.37}, {'connected_gene': 'AFG1L', 'score': 0.14}]
chr6	GH06I108408	108407362	108409518	0.65	[{'connected_gene': 'LOC105377932', 'score': 550.77}, {'connected_gene': 'GC06P108423', 'score': 0.39}, {'connected_gene': 'GC06P108424', 'score': 0.39}, {'connected_gene': 'AFG1L', 'score': 0.14}]
chr6	GH06I108365	108365531	108365730	0.66	[{'connected_gene': 'LOC100506224', 'score': 0.44}, {'connected_gene': 'LOC105377932', 'score': 0.26}, {'connected_gene': 'ENSG00000238055', 'score': 0.25}, {'connected_gene': 'AFG1L', 'score': 0.19}]
chr6	GH06I108463	108463572	108465142	0.62	[{'connected_gene': 'GC06P108423', 'score': 0.26}, {'connected_gene': 'GC06P108424', 'score': 0.26}, {'connected_gene': 'ENSG00000271608', 'score': 0.17}, {'connected_gene': 'AFG1L', 'score': 0.1}]
chr6	GH06I108423	108423074	108423358	0.4	[{'connected_gene': 'GC06P108423', 'score': 550.77}, {'connected_gene': 'GC06P108424', 'score': 550.77}, {'connected_gene': 'ENSG00000271608', 'score': 0.13}, {'connected_gene': 'AFG1L', 'score': 0.13}]
chr6	GH06I108275	108275673	108276805	0.43	[{'connected_gene': 'ENSG00000230248', 'score': 550.77}, {'connected_gene': 'AFG1L', 'score': 6.29}, {'connected_gene': 'GC06P108293', 'score': 0.37}]
chr6	GH06I108464	108463000	108463201	0.63	[{'connected_gene': 'GC06P108423', 'score': 0.26}, {'connected_gene': 'GC06P108424', 'score': 0.26}, {'connected_gene': 'ENSG00000271608', 'score': 0.17}, {'connected_gene': 'AFG1L', 'score': 0.1}]
chr6	GH06I108340	108340494	108342785	0.46	[{'connected_gene': 'ENSG00000238055', 'score': 0.34}, {'connected_gene': 'LOC100506224', 'score': 0.29}, {'connected_gene': 'AFG1L', 'score': 0.25}]
chr6	GH06I108344	108344427	108345537	0.2	[{'connected_gene': 'ENSG00000238055', 'score': 0.31}, {'connected_gene': 'LOC100506224', 'score': 0.31}, {'connected_gene': 'AFG1L', 'score': 0.23}]
chr6	GH06I108384	108384077	108384266	0.56	[{'connected_gene': 'ENSG00000227072', 'score': 0.77}, {'connected_gene': 'LOC100506224', 'score': 0.39}, {'connected_gene': 'LOC105377932', 'score': 0.34}, {'connected_gene': 'AFG1L', 'score': 0.17}]
chr6	GH06I108317	108317124	108318578	0.2	[{'connected_gene': 'ENSG00000238055', 'score': 550.77}, {'connected_gene': 'RPL36AP24', 'score': 550.77}, {'connected_gene': 'SNX3', 'score': 10.83}, {'connected_gene': 'AFG1L', 'score': 0.34}]