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
ENST00000371953	[[89622869, 89624305], [89653781, 89653866], [89685269, 89685314], [89690802, 89690846], [89692769, 89693008], [89711874, 89712016], [89717609, 89717776], [89720650, 89720875], [89725043, 89731687]]	[[89624226, 89624305], [89653781, 89653866], [89685269, 89685314], [89690802, 89690846], [89692769, 89693008], [89711874, 89712016], [89717609, 89717776], [89720650, 89720875], [89725043, 89725229]]
ENST00000462694	[[89624224, 89624305], [89653781, 89654083]]	None
ENST00000487939	[[89624205, 89624305], [89626429, 89626806]]	None
ENST00000498703	[[89685279, 89685314], [89690802, 89690846], [89692769, 89693244]]	None
ENST00000472832	[[89711955, 89712016], [89717609, 89717776], [89720650, 89721066]]	None
NM_001304718	[[89623194, 89624305], [89653781, 89653866], [89690802, 89690846], [89692769, 89693008], [89702367, 89702526], [89711874, 89712016], [89717609, 89717776], [89720650, 89720875], [89725043, 89731687]]	[[89711973, 89712016], [89717609, 89717776], [89720650, 89720875], [89725043, 89725229]]
NM_001304717	[[89623194, 89623860], [89623861, 89624305], [89653781, 89653866], [89685269, 89685314], [89690802, 89690846], [89692769, 89693008], [89711874, 89712016], [89717609, 89717776], [89720650, 89720875], [89725043, 89731687]]	[[89623706, 89623860], [89623861, 89624305], [89653781, 89653866], [89685269, 89685314], [89690802, 89690846], [89692769, 89693008], [89711874, 89712016], [89717609, 89717776], [89720650, 89720875], [89725043, 89725229]]
NM_000314	[[89623194, 89624305], [89653781, 89653866], [89685269, 89685314], [89690802, 89690846], [89692769, 89693008], [89711874, 89712016], [89717609, 89717776], [89720650, 89720875], [89725043, 89731687]]	[[89624226, 89624305], [89653781, 89653866], [89685269, 89685314], [89690802, 89690846], [89692769, 89693008], [89711874, 89712016], [89717609, 89717776], [89720650, 89720875], [89725043, 89725229]]

Promoter

Chrom	Start	End	Description
chr10	89623339	89623350	CAGE_peak_3_at_PTEN_5end
chr10	89623352	89623426	CAGE_peak_1_at_PTEN_5end
chr10	89624126	89624158	CAGE_peak_4_at_PTEN_5end
chr10	89726687	89726691	CAGE_peak_2_at_PTEN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I088027	88027201	88029353	1.16	[{'connected_gene': 'NUTM2A-AS1', 'score': 19.92}, {'connected_gene': 'RPL11P3', 'score': 11.34}, {'connected_gene': 'FAM35A', 'score': 10.87}, {'connected_gene': 'GLUD1', 'score': 5.36}, {'connected_gene': 'FAS', 'score': 4.67}, {'connected_gene': 'PTEN', 'score': 4.6}, {'connected_gene': 'LOC105378414', 'score': 0.39}, {'connected_gene': 'GC10M087988', 'score': 0.29}]
chr10	GH10I087954	87954131	87959013	0.54	[{'connected_gene': 'STAMBPL1', 'score': 5.5}, {'connected_gene': 'PTEN', 'score': 5.36}, {'connected_gene': 'LIPJ', 'score': 4.38}, {'connected_gene': 'GC10P087947', 'score': 0.44}, {'connected_gene': 'ENSG00000200891', 'score': 0.28}, {'connected_gene': 'GC10M087995', 'score': 0.28}]
chr10	GH10I087927	87927200	87927600	0.51	[{'connected_gene': 'STAMBPL1', 'score': 4.72}, {'connected_gene': 'RPL11P3', 'score': 0.37}, {'connected_gene': 'ENSG00000224745', 'score': 0.25}, {'connected_gene': 'PTEN', 'score': 0.21}]
chr10	GH10I087903	87903978	87914616	0.49	[{'connected_gene': 'PTEN', 'score': 5.45}, {'connected_gene': 'STAMBPL1', 'score': 5.05}, {'connected_gene': 'LIPJ', 'score': 4.48}, {'connected_gene': 'ENSG00000224745', 'score': 0.29}, {'connected_gene': 'RPL11P3', 'score': 0.28}]
chr10	GH10I088110	88110114	88110843	1.24	[{'connected_gene': 'PTEN', 'score': 1.17}, {'connected_gene': 'LOC101929727', 'score': 0.77}, {'connected_gene': 'LOC105378415', 'score': 0.44}]
chr10	GH10I088271	88270358	88272338	1.32	[{'connected_gene': 'PTEN', 'score': 7.5}, {'connected_gene': 'VN1R55P', 'score': 0.39}, {'connected_gene': 'GC10P088387', 'score': 0.13}, {'connected_gene': 'LOC101929727', 'score': 0.1}, {'connected_gene': 'RNLS', 'score': 0.06}]
chr10	GH10I088255	88255066	88257048	0.63	[{'connected_gene': 'PTEN', 'score': 6.64}, {'connected_gene': 'VN1R55P', 'score': 0.77}, {'connected_gene': 'GC10P088215', 'score': 0.26}, {'connected_gene': 'LOC101929727', 'score': 0.11}, {'connected_gene': 'RNLS', 'score': 0.05}]
chr10	GH10I088061	88061802	88068399	1.59	[{'connected_gene': 'PTEN', 'score': 29.27}, {'connected_gene': 'KLLN', 'score': 19.14}, {'connected_gene': 'MINPP1', 'score': 5.4}, {'connected_gene': 'NUTM2D', 'score': 4.15}, {'connected_gene': 'MED6P1', 'score': 0.37}, {'connected_gene': 'GC10P088093', 'score': 0.31}, {'connected_gene': 'LOC105378415', 'score': 0.28}]
chr10	GH10I087860	87860244	87869229	2.33	[{'connected_gene': 'PTEN', 'score': 556.0}, {'connected_gene': 'KLLN', 'score': 550.77}, {'connected_gene': 'NUTM2A-AS1', 'score': 28.71}, {'connected_gene': 'FAM35A', 'score': 20.32}, {'connected_gene': 'RPL11P3', 'score': 20.05}, {'connected_gene': 'ADIRF-AS1', 'score': 9.74}, {'connected_gene': 'LIPJ', 'score': 4.31}, {'connected_gene': 'ENSG00000224745', 'score': 0.39}]
chr10	GH10I087889	87889243	87897912	0.38	[{'connected_gene': 'PTEN', 'score': 17.18}, {'connected_gene': 'KLLN', 'score': 11.97}, {'connected_gene': 'STAMBPL1', 'score': 4.75}, {'connected_gene': 'LIPJ', 'score': 4.07}, {'connected_gene': 'ENSG00000224745', 'score': 0.39}, {'connected_gene': 'RPL11P3', 'score': 0.23}]
chr10	GH10I088391	88391671	88392973	1.07	[{'connected_gene': 'PTEN', 'score': 11.86}, {'connected_gene': 'KLLN', 'score': 11.86}, {'connected_gene': 'ANKRD22', 'score': 5.0}, {'connected_gene': 'GC10P088387', 'score': 0.44}, {'connected_gene': 'GC10M088413', 'score': 0.29}, {'connected_gene': 'RNLS', 'score': 0.08}]
chr10	GH10I088115	88115514	88119199	1.45	[{'connected_gene': 'PTEN', 'score': 3.9}, {'connected_gene': 'KLLN', 'score': 1.16}, {'connected_gene': 'LOC105378416', 'score': 0.77}, {'connected_gene': 'LOC101929727', 'score': 0.77}]
chr10	GH10I088106	88106001	88107369	1.1	[{'connected_gene': 'PTEN', 'score': 19.66}, {'connected_gene': 'KLLN', 'score': 11.08}, {'connected_gene': 'LOC105378415', 'score': 0.77}, {'connected_gene': 'LOC101929727', 'score': 0.44}]
chr10	GH10I088107	88107462	88108867	1.47	[{'connected_gene': 'PTEN', 'score': 7.97}, {'connected_gene': 'KLLN', 'score': 4.27}, {'connected_gene': 'LOC105378415', 'score': 0.77}, {'connected_gene': 'LOC101929727', 'score': 0.44}]
chr10	GH10I088097	88097098	88097801	1.26	[{'connected_gene': 'PTEN', 'score': 5.4}, {'connected_gene': 'KLLN', 'score': 3.04}, {'connected_gene': 'GC10P088093', 'score': 0.77}, {'connected_gene': 'LOC105378415', 'score': 0.44}]
chr10	GH10I087915	87915342	87919426	0.94	[{'connected_gene': 'PTEN', 'score': 17.86}, {'connected_gene': 'KLLN', 'score': 12.67}, {'connected_gene': 'RPL11P3', 'score': 0.31}, {'connected_gene': 'ENSG00000224745', 'score': 0.28}]
chr10	GH10I087924	87924367	87925868	0.8	[{'connected_gene': 'PTEN', 'score': 11.76}, {'connected_gene': 'KLLN', 'score': 11.76}, {'connected_gene': 'RPL11P3', 'score': 0.34}, {'connected_gene': 'ENSG00000224745', 'score': 0.25}]
chr10	GH10I087926	87926601	87926800	0.4	[{'connected_gene': 'PTEN', 'score': 11.76}, {'connected_gene': 'KLLN', 'score': 11.76}, {'connected_gene': 'RPL11P3', 'score': 0.37}, {'connected_gene': 'ENSG00000224745', 'score': 0.25}]
chr10	GH10I087922	87922001	87922200	0.84	[{'connected_gene': 'PTEN', 'score': 11.77}, {'connected_gene': 'KLLN', 'score': 11.77}, {'connected_gene': 'RPL11P3', 'score': 0.34}, {'connected_gene': 'ENSG00000224745', 'score': 0.26}]
chr10	GH10I087869	87869323	87870682	0.52	[{'connected_gene': 'PTEN', 'score': 0.44}, {'connected_gene': 'KLLN', 'score': 0.44}, {'connected_gene': 'ENSG00000224745', 'score': 0.44}]
chr10	GH10I087976	87976222	87976449	0.92	[{'connected_gene': 'PTEN', 'score': 1.3}, {'connected_gene': 'ENSG00000200891', 'score': 0.37}, {'connected_gene': 'GC10M087995', 'score': 0.37}, {'connected_gene': 'GC10P087947', 'score': 0.31}]
chr10	GH10I088281	88281309	88283114	0.69	[{'connected_gene': 'LIPJ', 'score': 9.36}, {'connected_gene': 'RNLS', 'score': 9.36}, {'connected_gene': 'ENSG00000201548', 'score': 9.36}, {'connected_gene': 'PTEN', 'score': 7.05}, {'connected_gene': 'CH25H', 'score': 4.58}, {'connected_gene': 'VN1R55P', 'score': 0.34}, {'connected_gene': 'GC10P088387', 'score': 0.15}, {'connected_gene': 'LOC101929727', 'score': 0.1}]
chr10	GH10I087854	87854620	87855044	0.2	[{'connected_gene': 'LIPJ', 'score': 9.79}, {'connected_gene': 'RNLS', 'score': 9.79}, {'connected_gene': 'ENSG00000201548', 'score': 9.79}, {'connected_gene': 'PTEN', 'score': 0.44}, {'connected_gene': 'GC10P087845', 'score': 0.44}]
chr10	GH10I087853	87853822	87854565	0.31	[{'connected_gene': 'LIPJ', 'score': 9.79}, {'connected_gene': 'ENSG00000201548', 'score': 9.79}, {'connected_gene': 'RNLS', 'score': 9.79}, {'connected_gene': 'PTEN', 'score': 0.44}, {'connected_gene': 'GC10P087845', 'score': 0.44}]
chr10	GH10I088103	88103680	88103870	0.47	[{'connected_gene': 'LOC105378415', 'score': 550.77}, {'connected_gene': 'PTEN', 'score': 22.6}, {'connected_gene': 'KLLN', 'score': 15.52}, {'connected_gene': 'GC10P088093', 'score': 0.39}]
chr10	GH10I087929	87929144	87929293	0.63	[{'connected_gene': 'RPL11P3', 'score': 0.37}, {'connected_gene': 'ENSG00000224745', 'score': 0.23}, {'connected_gene': 'PTEN', 'score': 0.2}]
chr10	GH10I087930	87930682	87932740	0.69	[{'connected_gene': 'RPL11P3', 'score': 0.39}, {'connected_gene': 'ENSG00000224745', 'score': 0.23}, {'connected_gene': 'PTEN', 'score': 0.2}]
chr10	GH10I087939	87939001	87939600	0.92	[{'connected_gene': 'RPL11P3', 'score': 0.44}, {'connected_gene': 'ENSG00000224745', 'score': 0.21}, {'connected_gene': 'PTEN', 'score': 0.18}]
chr10	GH10I087923	87923201	87923400	0.4	[{'connected_gene': 'KLLN', 'score': 11.77}, {'connected_gene': 'PTEN', 'score': 11.76}, {'connected_gene': 'RPL11P3', 'score': 0.34}, {'connected_gene': 'ENSG00000224745', 'score': 0.26}]
chr10	GH10I087878	87878475	87880575	1.17	[{'connected_gene': 'ENSG00000224745', 'score': 555.22}, {'connected_gene': 'PTEN', 'score': 0.37}, {'connected_gene': 'RPL11P3', 'score': 0.2}]
chr10	GH10I087882	87882109	87882948	0.38	[{'connected_gene': 'ENSG00000224745', 'score': 0.77}, {'connected_gene': 'PTEN', 'score': 0.37}, {'connected_gene': 'RPL11P3', 'score': 0.21}]
chr10	GH10I088383	88383384	88390829	1.58	[{'connected_gene': 'GC10P088387', 'score': 550.77}, {'connected_gene': 'PTEN', 'score': 11.86}, {'connected_gene': 'KLLN', 'score': 11.86}, {'connected_gene': 'LIPK', 'score': 3.85}, {'connected_gene': 'VN1R55P', 'score': 0.13}, {'connected_gene': 'RNLS', 'score': 0.08}]
chr10	GH10I087874	87874401	87874600	0.58	[{'connected_gene': 'ENSG00000224745', 'score': 0.77}, {'connected_gene': 'PTEN', 'score': 0.39}, {'connected_gene': 'KLLN', 'score': 0.39}]
chr10	GH10I087948	87948664	87948813	0.89	[{'connected_gene': 'GC10P087947', 'score': 550.77}, {'connected_gene': 'ENSG00000200891', 'score': 0.25}, {'connected_gene': 'GC10M087995', 'score': 0.25}, {'connected_gene': 'PTEN', 'score': 0.17}]
chr10	GH10I087959	87959983	87962198	0.8	[{'connected_gene': 'ENSG00000200891', 'score': 11.55}, {'connected_gene': 'LIPJ', 'score': 4.42}, {'connected_gene': 'GC10P087947', 'score': 0.39}, {'connected_gene': 'GC10M087995', 'score': 0.29}, {'connected_gene': 'PTEN', 'score': 0.15}]
chr10	GH10I087962	87962626	87964762	0.31	[{'connected_gene': 'ENSG00000200891', 'score': 11.55}, {'connected_gene': 'LIPJ', 'score': 4.21}, {'connected_gene': 'GC10P087947', 'score': 0.37}, {'connected_gene': 'GC10M087995', 'score': 0.29}, {'connected_gene': 'PTEN', 'score': 0.15}]
chr10	GH10I087850	87850795	87851200	1.11	[{'connected_gene': 'ENSG00000201548', 'score': 9.79}, {'connected_gene': 'LIPJ', 'score': 9.79}, {'connected_gene': 'RNLS', 'score': 9.79}, {'connected_gene': 'GC10P087845', 'score': 0.44}, {'connected_gene': 'PTEN', 'score': 0.39}]
chr10	GH10I087856	87856388	87856896	0.2	[{'connected_gene': 'ENSG00000201548', 'score': 9.79}, {'connected_gene': 'LIPJ', 'score': 9.79}, {'connected_gene': 'RNLS', 'score': 9.79}, {'connected_gene': 'PTEN', 'score': 0.44}, {'connected_gene': 'GC10P087845', 'score': 0.39}]
chr10	GH10I087943	87943463	87947686	0.2	[{'connected_gene': 'GC10P087947', 'score': 550.77}, {'connected_gene': 'RPL11P3', 'score': 550.77}, {'connected_gene': 'LIPJ', 'score': 4.14}, {'connected_gene': 'PTEN', 'score': 0.18}]