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
NM_017417	[[4829751, 4830054], [4835697, 4835995], [4848328, 4848495], [4853682, 4853866], [4854594, 4854792], [4855309, 4855424], [4870123, 4870309], [4872418, 4872556], [4873117, 4873213], [4874544, 4874712], [4881610, 4881892]]	[[4829843, 4830054], [4835697, 4835995], [4848328, 4848495], [4853682, 4853866], [4854594, 4854792], [4855309, 4855424], [4870123, 4870309], [4872418, 4872556], [4873117, 4873213], [4874544, 4874712], [4881610, 4881763]]

Promoter

Chrom	Start	End	Description
chr12	4829035	4829064	CAGE_peak_4_at_GALNT8_5end
chr12	4829561	4829601	CAGE_peak_3_at_GALNT8_5end
chr12	4829624	4829641	CAGE_peak_9_at_GALNT8_5end
chr12	4829976	4829986	CAGE_peak_10_at_GALNT8_5end
chr12	4872943	4872966	CAGE_peak_2_at_GALNT8_5end
chr12	4923850	4923902	CAGE_peak_1_at_GALNT8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I004663	4663451	4665042	0.54	[{'connected_gene': 'DYRK4', 'score': 13.66}, {'connected_gene': 'GALNT8', 'score': 10.73}, {'connected_gene': 'LOC101929549', 'score': 10.73}, {'connected_gene': 'LOC100420673', 'score': 4.85}, {'connected_gene': 'ENSG00000255639', 'score': 0.44}, {'connected_gene': 'GC12P005656', 'score': 0.37}, {'connected_gene': 'NDUFA9', 'score': 0.37}]
chr12	GH12I004736	4736122	4736506	0.46	[{'connected_gene': 'DYRK4', 'score': 6.27}, {'connected_gene': 'GALNT8', 'score': 0.37}, {'connected_gene': 'PIR33491', 'score': 0.31}, {'connected_gene': 'ENSG00000255639', 'score': 0.18}]
chr12	GH12I004825	4825407	4826844	0.89	[{'connected_gene': 'KCNA6', 'score': 6.7}, {'connected_gene': 'KCNA1', 'score': 1.73}, {'connected_gene': 'LOC105369614', 'score': 0.77}, {'connected_gene': 'GC12P005508', 'score': 0.39}, {'connected_gene': 'GALNT8', 'score': 0.14}]
chr12	GH12I004858	4858535	4858684	0.76	[{'connected_gene': 'KCNA1', 'score': 11.47}, {'connected_gene': 'GALNT8', 'score': 9.8}, {'connected_gene': 'LOC101929549', 'score': 9.8}, {'connected_gene': 'GC12P005660', 'score': 0.44}, {'connected_gene': 'ENSG00000255608', 'score': 0.37}]
chr12	GH12I004857	4857601	4858244	0.95	[{'connected_gene': 'KCNA1', 'score': 11.47}, {'connected_gene': 'GALNT8', 'score': 9.8}, {'connected_gene': 'LOC101929549', 'score': 9.8}, {'connected_gene': 'GC12P005660', 'score': 0.44}, {'connected_gene': 'ENSG00000255608', 'score': 0.37}]
chr12	GH12I004855	4855555	4855724	0.63	[{'connected_gene': 'KCNA1', 'score': 11.47}, {'connected_gene': 'GALNT8', 'score': 9.8}, {'connected_gene': 'LOC101929549', 'score': 9.8}, {'connected_gene': 'GC12P005660', 'score': 0.44}, {'connected_gene': 'ENSG00000255608', 'score': 0.37}]
chr12	GH12I004699	4699859	4702516	0.2	[{'connected_gene': 'GALNT8', 'score': 5.5}, {'connected_gene': 'AKAP3', 'score': 5.5}, {'connected_gene': 'DYRK4', 'score': 5.21}, {'connected_gene': 'LOC101929549', 'score': 0.37}, {'connected_gene': 'ENSG00000255639', 'score': 0.26}]
chr12	GH12I004831	4831857	4832683	0.2	[{'connected_gene': 'GALNT8', 'score': 5.37}, {'connected_gene': 'LOC105369614', 'score': 0.77}, {'connected_gene': 'ENSG00000255608', 'score': 0.44}, {'connected_gene': 'KCNA6', 'score': 0.31}]
chr12	GH12I004719	4719285	4721351	1.08	[{'connected_gene': 'GALNT8', 'score': 550.77}, {'connected_gene': 'LOC101929549', 'score': 550.77}, {'connected_gene': 'DYRK4', 'score': 4.74}, {'connected_gene': 'ENSG00000255639', 'score': 0.21}]
chr12	GH12I004587	4587255	4587404	0.31	[{'connected_gene': 'RAD51AP1', 'score': 11.06}, {'connected_gene': 'C12orf4', 'score': 11.06}, {'connected_gene': 'DYRK4', 'score': 10.92}, {'connected_gene': 'GALNT8', 'score': 10.83}, {'connected_gene': 'LOC101929549', 'score': 10.83}, {'connected_gene': 'AKAP3', 'score': 10.72}, {'connected_gene': 'NDUFA9', 'score': 10.72}, {'connected_gene': 'LOC103568124', 'score': 0.37}]
chr12	GH12I004647	4647860	4650244	1.99	[{'connected_gene': 'AKAP3', 'score': 591.17}, {'connected_gene': 'GC12P005656', 'score': 550.77}, {'connected_gene': 'NDUFA9', 'score': 550.77}, {'connected_gene': 'LOC103568124', 'score': 10.85}, {'connected_gene': 'GALNT8', 'score': 10.82}, {'connected_gene': 'LOC101929549', 'score': 10.82}, {'connected_gene': 'DYRK4', 'score': 10.77}, {'connected_gene': 'LOC100420673', 'score': 10.73}, {'connected_gene': 'ENSG00000256381', 'score': 0.77}, {'connected_gene': 'ENSG00000272921', 'score': 0.26}]
chr12	GH12I004661	4661006	4661247	0.38	[{'connected_gene': 'AKAP3', 'score': 17.07}, {'connected_gene': 'LOC103568124', 'score': 11.02}, {'connected_gene': 'DYRK4', 'score': 10.95}, {'connected_gene': 'GALNT8', 'score': 10.79}, {'connected_gene': 'LOC101929549', 'score': 10.79}, {'connected_gene': 'C12orf4', 'score': 10.24}, {'connected_gene': 'RAD51AP1', 'score': 10.24}, {'connected_gene': 'ENSG00000255639', 'score': 0.77}, {'connected_gene': 'GC12P005656', 'score': 0.39}, {'connected_gene': 'NDUFA9', 'score': 0.39}, {'connected_gene': 'ENSG00000272921', 'score': 0.22}]
chr12	GH12I004830	4830663	4830936	0.4	[{'connected_gene': 'LOC105369614', 'score': 550.77}, {'connected_gene': 'ENSG00000255608', 'score': 0.44}, {'connected_gene': 'KCNA6', 'score': 0.34}, {'connected_gene': 'GALNT8', 'score': 0.14}]
chr12	GH12I004833	4833294	4833801	0.2	[{'connected_gene': 'LOC105369614', 'score': 0.77}, {'connected_gene': 'ENSG00000255608', 'score': 0.44}, {'connected_gene': 'KCNA6', 'score': 0.31}, {'connected_gene': 'GALNT8', 'score': 0.14}]
chr12	GH12I004828	4828165	4830600	1.06	[{'connected_gene': 'LOC105369614', 'score': 550.77}, {'connected_gene': 'GALNT8', 'score': 5.35}, {'connected_gene': 'GC12P005508', 'score': 0.37}, {'connected_gene': 'KCNA6', 'score': 0.34}]
chr12	GH12I004810	4809535	4809684	0.66	[{'connected_gene': 'GC12P005508', 'score': 550.77}, {'connected_gene': 'ENSG00000256988', 'score': 550.77}, {'connected_gene': 'KCNA6', 'score': 0.77}, {'connected_gene': 'GALNT8', 'score': 0.17}]
chr12	GH12I004811	4809175	4809384	0.67	[{'connected_gene': 'GC12P005508', 'score': 550.77}, {'connected_gene': 'ENSG00000256988', 'score': 550.77}, {'connected_gene': 'KCNA6', 'score': 0.77}, {'connected_gene': 'GALNT8', 'score': 0.17}]
chr12	GH12I004809	4809103	4809162	0.9	[{'connected_gene': 'ENSG00000256988', 'score': 550.77}, {'connected_gene': 'GALNT8', 'score': 550.17}, {'connected_gene': 'KCNA6', 'score': 0.77}, {'connected_gene': 'GC12P005508', 'score': 0.77}]
chr12	GH12I004763	4763655	4763824	0.49	[{'connected_gene': 'PIR33491', 'score': 550.77}, {'connected_gene': 'GALNT8', 'score': 11.12}, {'connected_gene': 'LOC101929549', 'score': 11.12}]
chr12	GH12I004819	4819735	4820025	0.65	[{'connected_gene': 'GC12P005508', 'score': 0.44}, {'connected_gene': 'LOC105369614', 'score': 0.44}, {'connected_gene': 'KCNA6', 'score': 0.39}, {'connected_gene': 'GALNT8', 'score': 0.15}]