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
ENST00000330459	[[66031634, 66031956], [66033225, 66033323], [66033473, 66033611], [66036793, 66036882], [66038200, 66038469], [66039020, 66039115], [66039215, 66039479], [66039953, 66040187], [66040436, 66040619], [66041887, 66042037], [66042619, 66042958]]	[[66033248, 66033323], [66033473, 66033611], [66036793, 66036882], [66038200, 66038469], [66039020, 66039115], [66039215, 66039479], [66039953, 66040187], [66040436, 66040619], [66041887, 66042037], [66042619, 66042712]]
ENST00000583269	[[66031823, 66031956], [66033225, 66033323], [66033445, 66033611], [66036793, 66036882], [66038200, 66038325]]	[[66033248, 66033323], [66033445, 66033523]]
ENST00000584026	[[66031850, 66031956], [66033195, 66033323], [66033473, 66033611], [66036793, 66036882], [66038200, 66038300]]	[[66033248, 66033323], [66033473, 66033611], [66036793, 66036882], [66038200, 66038300]]
ENST00000537025	[[66032075, 66032672], [66033225, 66033323], [66033473, 66033611], [66036793, 66036882], [66038200, 66038469], [66039020, 66039115], [66039215, 66039479], [66039953, 66040187], [66040436, 66040619], [66041887, 66042037], [66042619, 66042958]]	[[66033248, 66033323], [66033473, 66033611], [66036793, 66036882], [66038200, 66038469], [66039020, 66039115], [66039215, 66039479], [66039953, 66040187], [66040436, 66040619], [66041887, 66042037], [66042619, 66042712]]
ENST00000579754	[[66033109, 66033323], [66033473, 66033611], [66036793, 66036882], [66038200, 66038328]]	[[66033248, 66033323], [66033473, 66033611], [66036793, 66036882], [66038200, 66038328]]
ENST00000583392	[[66039027, 66039479], [66039953, 66040008]]	None
ENST00000582898	[[66041583, 66041701], [66041887, 66042037], [66042619, 66042745]]	None
NM_002266	[[66031717, 66031956], [66033225, 66033323], [66033473, 66033611], [66036793, 66036882], [66038200, 66038469], [66039020, 66039115], [66039215, 66039479], [66039953, 66040187], [66040436, 66040619], [66041887, 66042037], [66042619, 66042975]]	[[66033248, 66033323], [66033473, 66033611], [66036793, 66036882], [66038200, 66038469], [66039020, 66039115], [66039215, 66039479], [66039953, 66040187], [66040436, 66040619], [66041887, 66042037], [66042619, 66042712]]
NM_001320611	[[66032075, 66032672], [66033225, 66033323], [66033473, 66033611], [66036793, 66036882], [66038200, 66038469], [66039020, 66039115], [66039215, 66039479], [66039953, 66040187], [66040436, 66040619], [66041887, 66042037], [66042619, 66042975]]	[[66033248, 66033323], [66033473, 66033611], [66036793, 66036882], [66038200, 66038469], [66039020, 66039115], [66039215, 66039479], [66039953, 66040187], [66040436, 66040619], [66041887, 66042037], [66042619, 66042712]]

Promoter

Chrom	Start	End	Description
chr17	66031818	66031830	CAGE_peak_2_at_KPNA2_5end
chr17	66031838	66031876	CAGE_peak_1_at_KPNA2_5end
chr17	66031887	66031896	CAGE_peak_3_at_KPNA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I068057	68057400	68057801	0.79	[{'connected_gene': 'HELZ', 'score': 12.57}, {'connected_gene': 'NOL11', 'score': 10.2}, {'connected_gene': 'KPNA2', 'score': 0.34}, {'connected_gene': 'FBXO36P1', 'score': 0.28}]
chr17	GH17I068076	68076288	68076437	0.46	[{'connected_gene': 'FBXO36P1', 'score': 0.37}, {'connected_gene': 'KPNA2', 'score': 0.26}]
chr17	GH17I068089	68089801	68090400	1.2	[{'connected_gene': 'FBXO36P1', 'score': 0.77}, {'connected_gene': 'KPNA2', 'score': 0.23}]
chr17	GH17I068077	68077141	68078466	0.43	[{'connected_gene': 'SH3GL1P3', 'score': 6.78}, {'connected_gene': 'FBXO36P1', 'score': 0.37}, {'connected_gene': 'KPNA2', 'score': 0.26}]
chr17	GH17I068029	68029546	68030051	0.95	[{'connected_gene': 'TRR-CCG2-1', 'score': 0.44}, {'connected_gene': 'KPNA2', 'score': 0.44}]
chr17	GH17I068019	68019165	68021200	1.34	[{'connected_gene': 'TRR-CCG2-1', 'score': 550.77}, {'connected_gene': 'NOL11', 'score': 58.14}, {'connected_gene': 'BPTF', 'score': 37.72}, {'connected_gene': 'HELZ', 'score': 37.7}, {'connected_gene': 'LRRC37A16P', 'score': 33.08}, {'connected_gene': 'SH3GL1P3', 'score': 25.52}, {'connected_gene': 'LOC100418928', 'score': 20.35}, {'connected_gene': 'ENSG00000267731', 'score': 12.38}, {'connected_gene': 'ENSG00000265055', 'score': 11.35}, {'connected_gene': 'ENSG00000265100', 'score': 10.92}, {'connected_gene': 'KPNA2', 'score': 0.37}]
chr17	GH17I068073	68073093	68074050	0.2	[{'connected_gene': 'LRRC37A16P', 'score': 48.44}, {'connected_gene': 'FBXO36P1', 'score': 0.34}, {'connected_gene': 'KPNA2', 'score': 0.28}]
chr17	GH17I068068	68068153	68069277	0.46	[{'connected_gene': 'LRRC37A16P', 'score': 54.41}, {'connected_gene': 'FBXO36P1', 'score': 0.31}, {'connected_gene': 'KPNA2', 'score': 0.29}]
chr17	GH17I068070	68070600	68071200	0.4	[{'connected_gene': 'LRRC37A16P', 'score': 53.59}, {'connected_gene': 'FBXO36P1', 'score': 0.34}, {'connected_gene': 'KPNA2', 'score': 0.28}]
chr17	GH17I068052	68052628	68055855	0.89	[{'connected_gene': 'LRRC37A16P', 'score': 52.4}, {'connected_gene': 'SH3GL1P3', 'score': 26.69}, {'connected_gene': 'WIPI1', 'score': 10.06}, {'connected_gene': 'MIR635', 'score': 9.79}, {'connected_gene': 'KPNA2', 'score': 0.37}, {'connected_gene': 'FBXO36P1', 'score': 0.26}]
chr17	GH17I068085	68085348	68087800	1.06	[{'connected_gene': 'LRRC37A16P', 'score': 47.0}, {'connected_gene': 'ARHGAP27P2', 'score': 5.1}, {'connected_gene': 'FBXO36P1', 'score': 0.44}, {'connected_gene': 'KPNA2', 'score': 0.23}]
chr17	GH17I068061	68061499	68062147	0.91	[{'connected_gene': 'LRRC37A16P', 'score': 55.45}, {'connected_gene': 'KPNA2', 'score': 0.31}, {'connected_gene': 'FBXO36P1', 'score': 0.29}]
chr17	GH17I068064	68064149	68065900	0.2	[{'connected_gene': 'LRRC37A16P', 'score': 42.91}, {'connected_gene': 'KPNA2', 'score': 0.31}, {'connected_gene': 'FBXO36P1', 'score': 0.29}]
chr17	GH17I068049	68049105	68049254	0.66	[{'connected_gene': 'KPNA2', 'score': 0.39}, {'connected_gene': 'FBXO36P1', 'score': 0.25}]
chr17	GH17I068032	68032958	68038131	2.54	[{'connected_gene': 'KPNA2', 'score': 550.77}, {'connected_gene': 'LRRC37A16P', 'score': 52.8}, {'connected_gene': 'SH3GL1P3', 'score': 26.89}, {'connected_gene': 'HELZ', 'score': 16.2}, {'connected_gene': 'NOL11', 'score': 15.21}, {'connected_gene': 'LOC100418928', 'score': 10.63}, {'connected_gene': 'BPTF', 'score': 9.82}, {'connected_gene': 'FBXO36P1', 'score': 0.22}]
chr17	GH17I068045	68045088	68045517	0.44	[{'connected_gene': 'C17orf58', 'score': 11.46}, {'connected_gene': 'KPNA2', 'score': 0.44}, {'connected_gene': 'FBXO36P1', 'score': 0.25}]