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
ENST00000292641	[[180017102, 180017254], [180017599, 180017838], [180018410, 180018540]]	[[180017230, 180017254], [180017599, 180017838], [180018410, 180018462]]
ENST00000512120	[[180017104, 180017254], [180017599, 180018163]]	None
NM_052863	[[180017104, 180017254], [180017599, 180017838], [180018410, 180018487]]	[[180017230, 180017254], [180017599, 180017838], [180018410, 180018462]]

Promoter

Chrom	Start	End	Description
chr5	180017672	180017683	CAGE_peak_11_at_SCGB3A1_5end
chr5	180017691	180017700	CAGE_peak_8_at_SCGB3A1_5end
chr5	180017732	180017767	CAGE_peak_3_at_SCGB3A1_5end
chr5	180017818	180017830	CAGE_peak_7_at_SCGB3A1_5end
chr5	180018490	180018505	CAGE_peak_1_at_SCGB3A1_5end
chr5	180018513	180018530	CAGE_peak_2_at_SCGB3A1_5end
chr5	180018544	180018549	CAGE_peak_6_at_SCGB3A1_5end
chr5	180018564	180018596	CAGE_peak_4_at_SCGB3A1_5end
chr5	180018601	180018622	CAGE_peak_5_at_SCGB3A1_5end
chr5	180018695	180018706	CAGE_peak_9_at_SCGB3A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I180560	180560714	180564264	0.85	[{'connected_gene': 'SCGB3A1', 'score': 52.38}, {'connected_gene': 'FLT4', 'score': 12.01}, {'connected_gene': 'CNOT6', 'score': 11.56}, {'connected_gene': 'ENSG00000248367', 'score': 9.71}, {'connected_gene': 'GC05P180580', 'score': 0.37}, {'connected_gene': 'LOC100329129', 'score': 0.31}]
chr5	GH05I180518	180518801	180519401	0.74	[{'connected_gene': 'SCGB3A1', 'score': 7.17}, {'connected_gene': 'LOC100329129', 'score': 0.37}, {'connected_gene': 'CNOT6', 'score': 0.34}]
chr5	GH05I180548	180548142	180549298	0.73	[{'connected_gene': 'SCGB3A1', 'score': 29.35}, {'connected_gene': 'LOC100329129', 'score': 0.39}, {'connected_gene': 'GC05P180580', 'score': 0.29}, {'connected_gene': 'CNOT6', 'score': 0.23}]
chr5	GH05I180554	180554029	180556514	0.96	[{'connected_gene': 'SCGB3A1', 'score': 40.47}, {'connected_gene': 'LOC100329129', 'score': 0.34}, {'connected_gene': 'GC05P180580', 'score': 0.31}, {'connected_gene': 'CNOT6', 'score': 0.21}]
chr5	GH05I180591	180591489	180591548	0.61	[{'connected_gene': 'SCGB3A1', 'score': 550.77}, {'connected_gene': 'GC05P180589', 'score': 0.77}]
chr5	GH05I180493	180493273	180497459	2.08	[{'connected_gene': 'CNOT6', 'score': 561.51}, {'connected_gene': 'HNRNPH1', 'score': 38.3}, {'connected_gene': 'MAML1', 'score': 34.94}, {'connected_gene': 'MRNIP', 'score': 33.77}, {'connected_gene': 'ENSG00000233937', 'score': 28.43}, {'connected_gene': 'TRIM52', 'score': 25.22}, {'connected_gene': 'ZFP62', 'score': 17.33}, {'connected_gene': 'RUFY1', 'score': 16.78}, {'connected_gene': 'RACK1', 'score': 15.53}, {'connected_gene': 'LOC100996419', 'score': 12.85}, {'connected_gene': 'ENSG00000248367', 'score': 12.21}, {'connected_gene': 'MAPK9', 'score': 11.67}, {'connected_gene': 'LOC101928445', 'score': 10.05}, {'connected_gene': 'SNORD96A', 'score': 9.97}, {'connected_gene': 'SCGB3A1', 'score': 7.07}, {'connected_gene': 'BTNL3', 'score': 5.92}, {'connected_gene': 'LOC102725231', 'score': 0.31}, {'connected_gene': 'LOC100329129', 'score': 0.28}]
chr5	GH05I180606	180606061	180606210	0.65	[{'connected_gene': 'GC05M180610', 'score': 0.77}, {'connected_gene': 'PIR50427', 'score': 0.77}, {'connected_gene': 'SCGB3A1', 'score': 0.39}, {'connected_gene': 'FLT4', 'score': 0.26}]