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
ENST00000357816	[[25735821, 25744619], [25744976, 25745857], [25746050, 25746426]]	[[25743741, 25744619], [25744976, 25745757]]
ENST00000381853	[[25742673, 25744619], [25744976, 25745857]]	[[25743741, 25744619], [25744976, 25745757]]
ENST00000515384	[[25743228, 25746425]]	[[25743741, 25745757]]
NM_199138	[[25735816, 25744619], [25744976, 25745857], [25746050, 25746305]]	[[25743741, 25744619], [25744976, 25745757]]
NM_152704	[[25735816, 25746421]]	[[25743741, 25745757]]

Promoter

Chrom	Start	End	Description
chr13	25744593	25744620	CAGE_peak_11_at_FAM123A_5end
chr13	25744881	25744938	CAGE_peak_9_at_FAM123A_5end
chr13	25745025	25745073	CAGE_peak_5_at_FAM123A_5end
chr13	25745078	25745093	CAGE_peak_12_at_FAM123A_5end
chr13	25745130	25745151	CAGE_peak_13_at_FAM123A_5end
chr13	25745157	25745171	CAGE_peak_14_at_FAM123A_5end
chr13	25745252	25745315	CAGE_peak_4_at_FAM123A_5end
chr13	25745421	25745441	CAGE_peak_6_at_FAM123A_5end
chr13	25745443	25745478	CAGE_peak_7_at_FAM123A_5end
chr13	25745617	25745628	CAGE_peak_16_at_FAM123A_5end
chr13	25745685	25745777	CAGE_peak_1_at_FAM123A_5end
chr13	25745868	25745886	CAGE_peak_8_at_FAM123A_5end
chr13	25746283	25746294	CAGE_peak_10_at_FAM123A_5end
chr13	25746318	25746350	CAGE_peak_3_at_FAM123A_5end
chr13	25746416	25746433	CAGE_peak_2_at_FAM123A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I025152	25152589	25153109	0.31	[{'connected_gene': 'TPTE2P1', 'score': 13.36}, {'connected_gene': 'LINC01053', 'score': 11.07}, {'connected_gene': 'LINC00463', 'score': 11.07}, {'connected_gene': 'ENSG00000279695', 'score': 0.39}, {'connected_gene': 'AMER2', 'score': 0.37}]
chr13	GH13I025603	25603828	25604052	0.25	[{'connected_gene': 'ATP8A2', 'score': 3.64}, {'connected_gene': 'AMER2', 'score': 2.3}, {'connected_gene': 'PIR39066', 'score': 0.39}, {'connected_gene': 'RNU6-78P', 'score': 0.17}]
chr13	GH13I025544	25544596	25544932	0.22	[{'connected_gene': 'SHISA2', 'score': 9.62}, {'connected_gene': 'LINC00415', 'score': 9.62}, {'connected_gene': 'ATP8A2', 'score': 3.69}, {'connected_gene': 'AMER2', 'score': 3.57}, {'connected_gene': 'RNU6-78P', 'score': 0.31}, {'connected_gene': 'PIR39066', 'score': 0.19}]
chr13	GH13I025131	25131736	25133201	0.2	[{'connected_gene': 'AMER2', 'score': 19.39}, {'connected_gene': 'RNF17', 'score': 9.74}, {'connected_gene': 'ENSG00000279695', 'score': 0.44}, {'connected_gene': 'PABPC3', 'score': 0.28}]
chr13	GH13I025113	25113823	25115302	0.68	[{'connected_gene': 'AMER2', 'score': 10.97}, {'connected_gene': 'LINC01053', 'score': 10.84}, {'connected_gene': 'LINC00463', 'score': 10.84}, {'connected_gene': 'PABPC3', 'score': 0.37}, {'connected_gene': 'LOC105370120', 'score': 0.37}, {'connected_gene': 'ENSG00000279695', 'score': 0.31}]
chr13	GH13I025115	25115524	25117996	0.88	[{'connected_gene': 'AMER2', 'score': 50.18}, {'connected_gene': 'LINC01053', 'score': 10.84}, {'connected_gene': 'LINC00463', 'score': 10.84}, {'connected_gene': 'PABPC3', 'score': 0.34}, {'connected_gene': 'ENSG00000279695', 'score': 0.34}, {'connected_gene': 'LOC105370120', 'score': 0.34}]
chr13	GH13I025136	25136275	25138151	0.51	[{'connected_gene': 'AMER2', 'score': 19.62}, {'connected_gene': 'LINC01053', 'score': 10.97}, {'connected_gene': 'LINC00463', 'score': 10.97}, {'connected_gene': 'ENSG00000279695', 'score': 0.77}, {'connected_gene': 'PABPC3', 'score': 0.26}]
chr13	GH13I025147	25147628	25151307	0.59	[{'connected_gene': 'AMER2', 'score': 11.9}, {'connected_gene': 'LINC01053', 'score': 11.3}, {'connected_gene': 'LINC00463', 'score': 11.3}, {'connected_gene': 'ENSG00000279695', 'score': 0.44}]
chr13	GH13I025151	25151743	25151892	0.51	[{'connected_gene': 'AMER2', 'score': 11.9}, {'connected_gene': 'LINC01053', 'score': 11.07}, {'connected_gene': 'LINC00463', 'score': 11.07}, {'connected_gene': 'ENSG00000279695', 'score': 0.39}]
chr13	GH13I025174	25173746	25174287	0.38	[{'connected_gene': 'AMER2', 'score': 550.77}, {'connected_gene': 'LINC00463', 'score': 0.44}]
chr13	GH13I025175	25175868	25178315	0.38	[{'connected_gene': 'AMER2', 'score': 0.77}, {'connected_gene': 'LINC00463', 'score': 0.77}]
chr13	GH13I025167	25167809	25170781	0.6	[{'connected_gene': 'AMER2', 'score': 0.77}, {'connected_gene': 'ENSG00000279695', 'score': 0.31}]
chr13	GH13I025173	25171543	25171752	0.79	[{'connected_gene': 'AMER2', 'score': 550.77}, {'connected_gene': 'ENSG00000279695', 'score': 0.29}]
chr13	GH13I025172	25172278	25172337	1.04	[{'connected_gene': 'AMER2', 'score': 550.77}, {'connected_gene': 'ENSG00000279695', 'score': 0.29}]
chr13	GH13I025160	25160666	25166574	0.38	[{'connected_gene': 'AMER2', 'score': 0.44}, {'connected_gene': 'ENSG00000279695', 'score': 0.34}]
chr13	GH13I025171	25171292	25171535	0.56	[{'connected_gene': 'AMER2', 'score': 550.77}, {'connected_gene': 'ENSG00000279695', 'score': 0.31}]
chr13	GH13I025202	25202229	25204623	0.2	[{'connected_gene': 'LINC01053', 'score': 11.78}, {'connected_gene': 'LINC00463', 'score': 11.78}, {'connected_gene': 'AMER2', 'score': 10.56}, {'connected_gene': 'RPL23AP69', 'score': 0.77}, {'connected_gene': 'LINC01076', 'score': 0.44}, {'connected_gene': 'PIR45438', 'score': 0.44}]
chr13	GH13I025153	25153662	25154532	0.4	[{'connected_gene': 'LINC01053', 'score': 11.4}, {'connected_gene': 'LINC00463', 'score': 11.4}, {'connected_gene': 'ENSG00000279695', 'score': 0.39}, {'connected_gene': 'AMER2', 'score': 0.37}]
chr13	GH13I025156	25156799	25158390	0.2	[{'connected_gene': 'LINC01053', 'score': 11.79}, {'connected_gene': 'LINC00463', 'score': 11.79}, {'connected_gene': 'AMER2', 'score': 0.39}, {'connected_gene': 'ENSG00000279695', 'score': 0.37}]
chr13	GH13I025143	25143336	25144336	0.2	[{'connected_gene': 'LINC01053', 'score': 10.64}, {'connected_gene': 'LINC00463', 'score': 10.64}, {'connected_gene': 'ENSG00000279695', 'score': 0.77}, {'connected_gene': 'AMER2', 'score': 0.31}]
chr13	GH13I025178	25178583	25179434	0.43	[{'connected_gene': 'LINC00463', 'score': 550.77}, {'connected_gene': 'AMER2', 'score': 0.44}]
chr13	GH13I025155	25155458	25156785	0.2	[{'connected_gene': 'LINC00463', 'score': 11.61}, {'connected_gene': 'LINC01053', 'score': 11.58}, {'connected_gene': 'ENSG00000279695', 'score': 0.39}, {'connected_gene': 'AMER2', 'score': 0.37}]