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
ENST00000496876	[[182537814, 182538274], [182545156, 182545274]]	None
ENST00000295108	[[182541193, 182543598], [182545156, 182545603]]	[[182542516, 182543587]]
NM_002500	[[182540832, 182543598], [182545156, 182545392]]	[[182542516, 182543587]]

Promoter

Chrom	Start	End	Description
chr2	182543197	182543218	CAGE_peak_4_at_NEUROD1_5end
chr2	182543249	182543261	CAGE_peak_5_at_NEUROD1_5end
chr2	182543547	182543559	CAGE_peak_9_at_NEUROD1_5end
chr2	182543783	182543813	CAGE_peak_6_at_NEUROD1_5end
chr2	182543992	182543996	CAGE_peak_10_at_NEUROD1_5end
chr2	182545234	182545252	CAGE_peak_1_at_NEUROD1_5end
chr2	182545282	182545294	CAGE_peak_2_at_NEUROD1_5end
chr2	182545296	182545307	CAGE_peak_3_at_NEUROD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I181629	181629630	181629974	0.43	[{'connected_gene': 'NEUROD1', 'score': 13.26}, {'connected_gene': 'CERKL', 'score': 11.39}, {'connected_gene': 'ENSG00000234595', 'score': 11.39}, {'connected_gene': 'GC02M181678', 'score': 0.25}, {'connected_gene': 'GC02P181566', 'score': 0.21}]
chr2	GH02I181619	181619295	181620804	0.4	[{'connected_gene': 'CERKL', 'score': 9.99}, {'connected_gene': 'NEUROD1', 'score': 9.99}, {'connected_gene': 'ENSG00000234595', 'score': 9.99}, {'connected_gene': 'ITGA4', 'score': 6.7}, {'connected_gene': 'GC02P181566', 'score': 0.23}, {'connected_gene': 'GC02M181678', 'score': 0.22}]
chr2	GH02I181554	181554162	181554554	0.42	[{'connected_gene': 'CERKL', 'score': 5.26}, {'connected_gene': 'NEUROD1', 'score': 4.86}, {'connected_gene': 'GC02P181566', 'score': 0.39}, {'connected_gene': 'ITGA4', 'score': 0.15}]
chr2	GH02I181615	181615268	181615508	0.54	[{'connected_gene': 'CERKL', 'score': 10.81}, {'connected_gene': 'NEUROD1', 'score': 10.81}, {'connected_gene': 'ENSG00000234595', 'score': 10.81}, {'connected_gene': 'PPP1R1C', 'score': 1.61}, {'connected_gene': 'GC02P181566', 'score': 0.25}, {'connected_gene': 'GC02M181678', 'score': 0.21}]
chr2	GH02I181715	181715154	181715323	0.6	[{'connected_gene': 'CERKL', 'score': 12.5}, {'connected_gene': 'NEUROD1', 'score': 12.5}, {'connected_gene': 'ENSG00000234595', 'score': 12.5}, {'connected_gene': 'RNU6ATAC19P', 'score': 11.58}, {'connected_gene': 'SAP18P2', 'score': 0.34}, {'connected_gene': 'GC02P181739', 'score': 0.34}]
chr2	GH02I181655	181655555	181657417	2.07	[{'connected_gene': 'CERKL', 'score': 562.44}, {'connected_gene': 'NEUROD1', 'score': 12.44}, {'connected_gene': 'ENSG00000234595', 'score': 12.42}, {'connected_gene': 'GC02M181678', 'score': 0.34}, {'connected_gene': 'GC02P181566', 'score': 0.17}]
chr2	GH02I181586	181586714	181586863	0.89	[{'connected_gene': 'CERKL', 'score': 10.9}, {'connected_gene': 'NEUROD1', 'score': 10.9}, {'connected_gene': 'ENSG00000234595', 'score': 10.89}, {'connected_gene': 'GC02P181566', 'score': 0.37}, {'connected_gene': 'GC02M181678', 'score': 0.16}]
chr2	GH02I181572	181572784	181572798	0.22	[{'connected_gene': 'CERKL', 'score': 11.9}, {'connected_gene': 'NEUROD1', 'score': 11.9}, {'connected_gene': 'ENSG00000234595', 'score': 11.89}, {'connected_gene': 'GC02P181566', 'score': 0.44}, {'connected_gene': 'GC02M181678', 'score': 0.14}]
chr2	GH02I181680	181680507	181680566	1.13	[{'connected_gene': 'CERKL', 'score': 550.77}, {'connected_gene': 'GC02M181678', 'score': 550.77}, {'connected_gene': 'NEUROD1', 'score': 550.77}]
chr2	GH02I181916	181916102	181917999	0.4	[{'connected_gene': 'ENSG00000234595', 'score': 10.13}, {'connected_gene': 'CERKL', 'score': 10.13}, {'connected_gene': 'NEUROD1', 'score': 10.13}, {'connected_gene': 'SSFA2', 'score': 0.31}, {'connected_gene': 'PPP1R1C', 'score': 0.28}]
chr2	GH02I181104	181104634	181105001	0.85	[{'connected_gene': 'ENSG00000238171', 'score': 550.77}, {'connected_gene': 'ITGA4', 'score': 12.35}, {'connected_gene': 'CERKL', 'score': 10.06}, {'connected_gene': 'NEUROD1', 'score': 10.06}, {'connected_gene': 'ENSG00000234595', 'score': 10.06}, {'connected_gene': 'UBE2E3', 'score': 8.61}, {'connected_gene': 'LINC01934', 'score': 0.77}]