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
ENST00000358912	[[64319785, 64322402], [64323258, 64323447], [64323546, 64323744], [64327531, 64327633], [64331834, 64331964], [64335373, 64335513], [64371214, 64371588]]	[[64321835, 64322402], [64323258, 64323447], [64323546, 64323744], [64327531, 64327633], [64331834, 64331964], [64335373, 64335444]]
ENST00000466177	[[64327531, 64327633], [64331687, 64331731], [64331834, 64331964], [64335373, 64335513], [64371214, 64371496]]	None
ENST00000494203	[[64333311, 64333433], [64335373, 64335513], [64371214, 64371554]]	None
ENST00000468869	[[64335485, 64335513], [64370451, 64370660], [64371214, 64371530]]	None
NM_020651	[[64319785, 64322402], [64323258, 64323447], [64323546, 64323744], [64327531, 64327633], [64331834, 64331964], [64335373, 64335513], [64371214, 64371605]]	[[64321835, 64322402], [64323258, 64323447], [64323546, 64323744], [64327531, 64327633], [64331834, 64331964], [64335373, 64335444]]

Promoter

Chrom	Start	End	Description
chr2	64327625	64327636	CAGE_peak_4_at_PELI1_5end
chr2	64371523	64371535	CAGE_peak_2_at_PELI1_5end
chr2	64371546	64371560	CAGE_peak_1_at_PELI1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I064608	64608822	64610018	1.85	[{'connected_gene': 'SERTAD2', 'score': 7.27}, {'connected_gene': 'PELI1', 'score': 2.39}, {'connected_gene': 'AFTPH', 'score': 1.9}, {'connected_gene': 'SLC1A4', 'score': 1.84}, {'connected_gene': 'LOC105374772', 'score': 0.77}, {'connected_gene': 'LINC02579', 'score': 0.77}, {'connected_gene': 'PIR42187', 'score': 0.34}]
chr2	GH02I064697	64697262	64701038	1.59	[{'connected_gene': 'SERTAD2', 'score': 13.42}, {'connected_gene': 'VPS54', 'score': 12.13}, {'connected_gene': 'SLC1A4', 'score': 7.8}, {'connected_gene': 'RAB1A', 'score': 6.33}, {'connected_gene': 'PELI1', 'score': 4.66}, {'connected_gene': 'AFTPH', 'score': 2.43}, {'connected_gene': 'GC02P064667', 'score': 0.29}]
chr2	GH02I064220	64220001	64220657	0.92	[{'connected_gene': 'PELI1', 'score': 20.01}, {'connected_gene': 'SERTAD2', 'score': 8.72}, {'connected_gene': 'AFTPH', 'score': 4.15}, {'connected_gene': 'ENSG00000270354', 'score': 0.39}, {'connected_gene': 'GC02M064246', 'score': 0.28}, {'connected_gene': 'LOC100507006', 'score': 0.18}]
chr2	GH02I064726	64726148	64728578	1.06	[{'connected_gene': 'PELI1', 'score': 4.17}, {'connected_gene': 'SERTAD2', 'score': 0.34}, {'connected_gene': 'GC02P064667', 'score': 0.21}]
chr2	GH02I064193	64193650	64193758	0.44	[{'connected_gene': 'PELI1', 'score': 8.28}, {'connected_gene': 'AFTPH', 'score': 1.3}, {'connected_gene': 'LINC00309', 'score': 0.39}, {'connected_gene': 'GC02P064150', 'score': 0.26}, {'connected_gene': 'LOC100507006', 'score': 0.23}]
chr2	GH02I064012	64012032	64012113	0.22	[{'connected_gene': 'PELI1', 'score': 2.04}, {'connected_gene': 'PIR48907', 'score': 0.77}, {'connected_gene': 'GC02M064016', 'score': 0.77}, {'connected_gene': 'VPS54', 'score': 0.44}, {'connected_gene': 'GC02M063913', 'score': 0.18}, {'connected_gene': 'GC02M063958', 'score': 0.13}]
chr2	GH02I063789	63788937	63793523	1.22	[{'connected_gene': 'PELI1', 'score': 7.22}, {'connected_gene': 'GC02M063810', 'score': 0.31}, {'connected_gene': 'GC02M063754', 'score': 0.31}, {'connected_gene': 'WDPCP', 'score': 0.25}]
chr2	GH02I064186	64186823	64187249	0.8	[{'connected_gene': 'PELI1', 'score': 11.67}, {'connected_gene': 'ENSG00000237217', 'score': 9.8}, {'connected_gene': 'LOC105374771', 'score': 9.8}, {'connected_gene': 'LGALSL', 'score': 9.8}, {'connected_gene': 'WDPCP', 'score': 5.25}, {'connected_gene': 'LOC100507006', 'score': 4.7}, {'connected_gene': 'SERTAD2', 'score': 3.34}, {'connected_gene': 'AFTPH', 'score': 2.06}, {'connected_gene': 'LINC00309', 'score': 0.37}, {'connected_gene': 'GC02P064150', 'score': 0.28}]
chr2	GH02I064259	64259097	64264100	1.6	[{'connected_gene': 'PELI1', 'score': 32.12}, {'connected_gene': 'LOC100507006', 'score': 15.86}, {'connected_gene': 'SERTAD2', 'score': 10.8}, {'connected_gene': 'AFTPH', 'score': 6.58}, {'connected_gene': 'LGALSL', 'score': 4.62}, {'connected_gene': 'GC02M064246', 'score': 0.77}, {'connected_gene': 'ENSG00000238012', 'score': 0.19}]
chr2	GH02I064221	64220862	64223799	1.11	[{'connected_gene': 'PELI1', 'score': 10.32}, {'connected_gene': 'LOC100507006', 'score': 6.17}, {'connected_gene': 'SERTAD2', 'score': 1.85}, {'connected_gene': 'AFTPH', 'score': 1.8}, {'connected_gene': 'ENSG00000270354', 'score': 0.39}, {'connected_gene': 'GC02M064246', 'score': 0.28}]
chr2	GH02I064210	64210291	64215668	1.65	[{'connected_gene': 'PELI1', 'score': 31.2}, {'connected_gene': 'LOC100507006', 'score': 22.63}, {'connected_gene': 'LOC105374771', 'score': 9.77}, {'connected_gene': 'LGALSL', 'score': 9.77}, {'connected_gene': 'ENSG00000237217', 'score': 9.77}, {'connected_gene': 'SERTAD2', 'score': 4.97}, {'connected_gene': 'AFTPH', 'score': 3.35}, {'connected_gene': 'ENSG00000270354', 'score': 0.77}, {'connected_gene': 'GC02M064246', 'score': 0.25}]
chr2	GH02I064593	64593905	64595184	1.06	[{'connected_gene': 'AFTPH', 'score': 18.15}, {'connected_gene': 'SERTAD2', 'score': 11.0}, {'connected_gene': 'LINC02576', 'score': 10.46}, {'connected_gene': 'RNU6-548P', 'score': 10.18}, {'connected_gene': 'PELI1', 'score': 2.05}, {'connected_gene': 'SLC1A4', 'score': 1.8}, {'connected_gene': 'LOC105374772', 'score': 0.39}, {'connected_gene': 'LINC02579', 'score': 0.39}, {'connected_gene': 'RNU6-100P', 'score': 0.37}]
chr2	GH02I063788	63788140	63788429	1	[{'connected_gene': 'WDPCP', 'score': 14.85}, {'connected_gene': 'PELI1', 'score': 1.65}, {'connected_gene': 'UGP2', 'score': 1.56}, {'connected_gene': 'GC02M063754', 'score': 0.31}, {'connected_gene': 'GC02M063810', 'score': 0.29}]
chr2	GH02I064091	64091264	64092780	0.68	[{'connected_gene': 'MDH1', 'score': 11.37}, {'connected_gene': 'ENSG00000228079', 'score': 0.77}, {'connected_gene': 'GC02M063958', 'score': 0.28}, {'connected_gene': 'PELI1', 'score': 0.23}]
chr2	GH02I064100	64100860	64102786	1.03	[{'connected_gene': 'MDH1', 'score': 3.99}, {'connected_gene': 'ENSG00000228079', 'score': 0.39}, {'connected_gene': 'GC02M063958', 'score': 0.31}, {'connected_gene': 'PELI1', 'score': 0.26}]
chr2	GH02I064118	64118956	64125426	0.85	[{'connected_gene': 'MDH1', 'score': 10.58}, {'connected_gene': 'LOC100507006', 'score': 4.88}, {'connected_gene': 'GC02M063958', 'score': 0.44}, {'connected_gene': 'PELI1', 'score': 0.34}, {'connected_gene': 'ENSG00000228079', 'score': 0.29}]
chr2	GH02I064137	64137201	64138800	1.12	[{'connected_gene': 'MDH1', 'score': 3.97}, {'connected_gene': 'GC02M063958', 'score': 0.44}, {'connected_gene': 'LOC100507006', 'score': 0.44}, {'connected_gene': 'PELI1', 'score': 0.44}]
chr2	GH02I064318	64318446	64318677	0.51	[{'connected_gene': 'LOC105374771', 'score': 10.92}, {'connected_gene': 'LGALSL', 'score': 10.92}, {'connected_gene': 'ENSG00000237217', 'score': 10.92}, {'connected_gene': 'ENSG00000238012', 'score': 7.82}, {'connected_gene': 'PELI1', 'score': 1.92}, {'connected_gene': 'AFTPH', 'score': 1.78}, {'connected_gene': 'SERTAD2', 'score': 1.42}, {'connected_gene': 'LOC105374768', 'score': 0.34}, {'connected_gene': 'GC02M064246', 'score': 0.22}]
chr2	GH02I064242	64242888	64245068	0.92	[{'connected_gene': 'LOC100507006', 'score': 11.46}, {'connected_gene': 'PELI1', 'score': 8.42}, {'connected_gene': 'AFTPH', 'score': 2.08}, {'connected_gene': 'SERTAD2', 'score': 1.72}, {'connected_gene': 'GC02M064246', 'score': 0.39}, {'connected_gene': 'ENSG00000270354', 'score': 0.28}]
chr2	GH02I064140	64140776	64147204	2.24	[{'connected_gene': 'LOC100507006', 'score': 556.24}, {'connected_gene': 'PELI1', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 16.45}, {'connected_gene': 'MDH1', 'score': 8.11}, {'connected_gene': 'UGP2', 'score': 4.77}, {'connected_gene': 'WDPCP', 'score': 4.58}]
chr2	GH02I064113	64113338	64117257	1.2	[{'connected_gene': 'LOC100507006', 'score': 15.65}, {'connected_gene': 'PELI1', 'score': 11.11}, {'connected_gene': 'MDH1', 'score': 3.96}, {'connected_gene': 'GC02M063958', 'score': 0.37}, {'connected_gene': 'ENSG00000228079', 'score': 0.31}]
chr2	GH02I064176	64176929	64178041	0.56	[{'connected_gene': 'LOC100507006', 'score': 16.32}, {'connected_gene': 'PELI1', 'score': 11.82}, {'connected_gene': 'GC02P064150', 'score': 0.31}, {'connected_gene': 'LINC00309', 'score': 0.31}]
chr2	GH02I064200	64200508	64205686	1.2	[{'connected_gene': 'LOC100507006', 'score': 11.32}, {'connected_gene': 'PELI1', 'score': 11.32}, {'connected_gene': 'LOC105374771', 'score': 10.03}, {'connected_gene': 'LGALSL', 'score': 10.03}, {'connected_gene': 'ENSG00000237217', 'score': 10.03}, {'connected_gene': 'VPS54', 'score': 6.6}, {'connected_gene': 'LINC00309', 'score': 0.77}, {'connected_gene': 'GC02P064150', 'score': 0.23}]
chr2	GH02I064104	64104060	64107571	1.05	[{'connected_gene': 'LOC100507006', 'score': 5.15}, {'connected_gene': 'ENSG00000228079', 'score': 0.37}, {'connected_gene': 'GC02M063958', 'score': 0.34}, {'connected_gene': 'PELI1', 'score': 0.28}]
chr2	GH02I064132	64132916	64135302	0.97	[{'connected_gene': 'LOC100507006', 'score': 4.62}, {'connected_gene': 'GC02M063958', 'score': 0.77}, {'connected_gene': 'PELI1', 'score': 0.39}]
chr2	GH02I064062	64062793	64066162	1.32	[{'connected_gene': 'LOC100507006', 'score': 15.71}, {'connected_gene': 'MDH1', 'score': 12.89}, {'connected_gene': 'PELI1', 'score': 11.1}, {'connected_gene': 'WDPCP', 'score': 4.24}, {'connected_gene': 'ENSG00000228079', 'score': 0.34}, {'connected_gene': 'VPS54', 'score': 0.25}, {'connected_gene': 'GC02M063958', 'score': 0.2}]
chr2	GH02I064126	64126141	64128025	0.31	[{'connected_gene': 'GC02M063958', 'score': 0.77}, {'connected_gene': 'PELI1', 'score': 0.37}, {'connected_gene': 'ENSG00000228079', 'score': 0.28}]
chr2	GH02I064109	64109001	64109200	0.51	[{'connected_gene': 'GC02M063958', 'score': 0.34}, {'connected_gene': 'ENSG00000228079', 'score': 0.34}, {'connected_gene': 'PELI1', 'score': 0.28}]
chr2	GH02I064128	64128379	64130763	0.57	[{'connected_gene': 'GC02M063958', 'score': 550.77}, {'connected_gene': 'MDH1', 'score': 10.97}, {'connected_gene': 'LOC100507006', 'score': 4.93}, {'connected_gene': 'PELI1', 'score': 0.39}, {'connected_gene': 'ENSG00000228079', 'score': 0.26}]
chr2	GH02I064325	64325153	64328780	1.33	[{'connected_gene': 'ENSG00000238012', 'score': 19.86}, {'connected_gene': 'LOC105374771', 'score': 10.78}, {'connected_gene': 'LGALSL', 'score': 10.78}, {'connected_gene': 'ENSG00000237217', 'score': 10.78}, {'connected_gene': 'PELI1', 'score': 7.63}, {'connected_gene': 'ENSG00000238201', 'score': 4.96}, {'connected_gene': 'AFTPH', 'score': 3.49}, {'connected_gene': 'SERTAD2', 'score': 2.59}, {'connected_gene': 'LOC105374768', 'score': 0.39}, {'connected_gene': 'GC02M064246', 'score': 0.2}]
chr2	GH02I064207	64207175	64207887	0.72	[{'connected_gene': 'ENSG00000270354', 'score': 550.77}, {'connected_gene': 'LOC100507006', 'score': 17.71}, {'connected_gene': 'PELI1', 'score': 11.31}, {'connected_gene': 'ENSG00000237217', 'score': 9.77}, {'connected_gene': 'LGALSL', 'score': 9.77}, {'connected_gene': 'LOC105374771', 'score': 9.77}, {'connected_gene': 'LINC00309', 'score': 0.77}]