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
ENST00000367176	[[204586297, 204589346], [204651997, 204652125], [204654447, 204654481]]	[[204586978, 204589120]]
ENST00000367177	[[204586297, 204589346], [204654447, 204654861]]	[[204586978, 204589120]]
ENST00000496057	[[204589027, 204589346], [204602271, 204602374], [204654447, 204654494]]	None
ENST00000367175	[[204586297, 204591333]]	[[204586978, 204589120]]
NM_006338	[[204586300, 204589346], [204651997, 204652125], [204654447, 204654481]]	[[204586978, 204589120]]
NM_201630	[[204586300, 204589346], [204654447, 204654597]]	[[204586978, 204589120]]

Promoter

Chrom	Start	End	Description
chr1	204654494	204654512	CAGE_peak_4_at_LRRN2_5end
chr1	204654555	204654589	CAGE_peak_2_at_LRRN2_5end
chr1	204654826	204654873	CAGE_peak_1_at_LRRN2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I205047	205047021	205047140	0.46	[{'connected_gene': 'TMCC2', 'score': 9.1}, {'connected_gene': 'CNTN2', 'score': 9.04}, {'connected_gene': 'NFASC', 'score': 6.06}, {'connected_gene': 'CDK18', 'score': 3.0}, {'connected_gene': 'TMEM81', 'score': 2.66}, {'connected_gene': 'LRRN2', 'score': 1.58}, {'connected_gene': 'DSTYK', 'score': 1.32}, {'connected_gene': 'GC01P205063', 'score': 0.37}]
chr1	GH01I204763	204763601	204764259	1.17	[{'connected_gene': 'ZC3H11A', 'score': 14.49}, {'connected_gene': 'SNRPE', 'score': 13.74}, {'connected_gene': 'MDM4', 'score': 10.66}, {'connected_gene': 'LRRN2', 'score': 10.65}, {'connected_gene': 'NFASC', 'score': 6.99}, {'connected_gene': 'GC01P204728', 'score': 0.28}]
chr1	GH01I204791	204791893	204792042	0.76	[{'connected_gene': 'ZC3H11A', 'score': 21.73}, {'connected_gene': 'MDM4', 'score': 20.63}, {'connected_gene': 'ELK4', 'score': 15.86}, {'connected_gene': 'PPP1R15B', 'score': 12.88}, {'connected_gene': 'ZBED6', 'score': 10.96}, {'connected_gene': 'LRRN2', 'score': 10.65}, {'connected_gene': 'NFASC', 'score': 6.28}, {'connected_gene': 'GC01P204728', 'score': 0.21}]
chr1	GH01I204405	204405589	204415070	2.55	[{'connected_gene': 'PPP1R15B', 'score': 573.26}, {'connected_gene': 'GC01M204412', 'score': 550.77}, {'connected_gene': 'PIR42001', 'score': 550.77}, {'connected_gene': 'PIR33251', 'score': 550.77}, {'connected_gene': 'PIR38315', 'score': 550.77}, {'connected_gene': 'PIR61315', 'score': 550.77}, {'connected_gene': 'ZC3H11A', 'score': 35.61}, {'connected_gene': 'MDM4', 'score': 34.29}, {'connected_gene': 'PIK3C2B', 'score': 11.52}, {'connected_gene': 'ETNK2', 'score': 9.88}, {'connected_gene': 'LRRN2', 'score': 6.08}, {'connected_gene': 'ENSG00000226330', 'score': 0.29}]
chr1	GH01I204497	204497226	204500196	0.68	[{'connected_gene': 'PPP1R15B', 'score': 10.66}, {'connected_gene': 'LRRN2', 'score': 6.84}, {'connected_gene': 'PIK3C2B', 'score': 6.32}, {'connected_gene': 'TRK-TTT3-1', 'score': 0.44}]
chr1	GH01I204489	204489300	204491090	0.38	[{'connected_gene': 'PPP1R15B', 'score': 10.73}, {'connected_gene': 'LRRN2', 'score': 6.72}, {'connected_gene': 'PIK3C2B', 'score': 0.77}]
chr1	GH01I204933	204933394	204933538	0.24	[{'connected_gene': 'CNTN2', 'score': 4.11}, {'connected_gene': 'TMCC2', 'score': 3.5}, {'connected_gene': 'NFASC', 'score': 3.16}, {'connected_gene': 'LRRN2', 'score': 1.43}, {'connected_gene': 'TMEM81', 'score': 1.37}, {'connected_gene': 'RPL13AP11', 'score': 0.39}]
chr1	GH01I204936	204936742	204940220	0.46	[{'connected_gene': 'CNTN2', 'score': 10.91}, {'connected_gene': 'NFASC', 'score': 10.46}, {'connected_gene': 'LRRN2', 'score': 9.19}, {'connected_gene': 'RPL13AP11', 'score': 4.81}, {'connected_gene': 'LEMD1', 'score': 4.6}]
chr1	GH01I204941	204941793	204941962	0.9	[{'connected_gene': 'CNTN2', 'score': 10.91}, {'connected_gene': 'NFASC', 'score': 10.45}, {'connected_gene': 'LRRN2', 'score': 9.19}, {'connected_gene': 'RPL13AP11', 'score': 0.77}]
chr1	GH01I205006	205006973	205007512	0.56	[{'connected_gene': 'CNTN2', 'score': 17.06}, {'connected_gene': 'LOC101929459', 'score': 9.85}, {'connected_gene': 'NFASC', 'score': 7.7}, {'connected_gene': 'TMCC2', 'score': 7.42}, {'connected_gene': 'CDK18', 'score': 3.3}, {'connected_gene': 'TMEM81', 'score': 2.47}, {'connected_gene': 'LRRN2', 'score': 2.2}, {'connected_gene': 'DSTYK', 'score': 1.66}, {'connected_gene': 'KLHDC8A', 'score': 1.59}, {'connected_gene': 'GC01P205019', 'score': 0.39}, {'connected_gene': 'RPL13AP11', 'score': 0.21}]
chr1	GH01I204460	204460522	204468007	1.51	[{'connected_gene': 'PIK3C2B', 'score': 24.44}, {'connected_gene': 'PPP1R15B', 'score': 14.61}, {'connected_gene': 'TMCC2', 'score': 9.89}, {'connected_gene': 'LRRN2', 'score': 9.61}, {'connected_gene': 'SOX13', 'score': 6.5}, {'connected_gene': 'ZC3H11A', 'score': 5.43}]
chr1	GH01I204468	204468068	204470130	0.43	[{'connected_gene': 'PIK3C2B', 'score': 20.53}, {'connected_gene': 'PPP1R15B', 'score': 10.98}, {'connected_gene': 'LRRN2', 'score': 9.61}, {'connected_gene': 'MDM4', 'score': 5.33}]
chr1	GH01I204470	204470387	204470723	0.2	[{'connected_gene': 'PIK3C2B', 'score': 12.19}, {'connected_gene': 'PPP1R15B', 'score': 10.98}, {'connected_gene': 'LRRN2', 'score': 9.61}]
chr1	GH01I204536	204536550	204538659	0.2	[{'connected_gene': 'PIK3C2B', 'score': 16.21}, {'connected_gene': 'MDM4', 'score': 9.46}, {'connected_gene': 'LRRN2', 'score': 6.62}, {'connected_gene': 'LOC100291628', 'score': 0.44}, {'connected_gene': 'PIR53964', 'score': 0.37}]
chr1	GH01I204692	204692873	204693062	1.02	[{'connected_gene': 'MDM4', 'score': 22.24}, {'connected_gene': 'ZC3H11A', 'score': 21.57}, {'connected_gene': 'ELK4', 'score': 14.84}, {'connected_gene': 'PPP1R15B', 'score': 12.45}, {'connected_gene': 'ENSG00000228153', 'score': 11.3}, {'connected_gene': 'ZBED6', 'score': 11.24}, {'connected_gene': 'SNRPE', 'score': 10.98}, {'connected_gene': 'LOC105371694', 'score': 10.95}, {'connected_gene': 'ENSG00000240710', 'score': 10.76}, {'connected_gene': 'LRRN2', 'score': 0.44}, {'connected_gene': 'GC01P204706', 'score': 0.39}]
chr1	GH01I204523	204523530	204525617	1.49	[{'connected_gene': 'MDM4', 'score': 560.14}, {'connected_gene': 'PIK3C2B', 'score': 11.58}, {'connected_gene': 'LRRN2', 'score': 6.6}, {'connected_gene': 'LOC100291628', 'score': 0.44}]
chr1	GH01I204562	204562095	204567355	1.67	[{'connected_gene': 'MDM4', 'score': 12.5}, {'connected_gene': 'ENSG00000240710', 'score': 11.22}, {'connected_gene': 'LRRN2', 'score': 9.96}, {'connected_gene': 'TMCC2', 'score': 9.89}, {'connected_gene': 'NFASC', 'score': 9.82}, {'connected_gene': 'PIK3C2B', 'score': 5.63}, {'connected_gene': 'RNA5SP74', 'score': 0.77}, {'connected_gene': 'GC01M204562', 'score': 0.77}, {'connected_gene': 'LOC105371692', 'score': 0.31}]
chr1	GH01I204555	204555322	204557786	0.2	[{'connected_gene': 'MDM4', 'score': 11.02}, {'connected_gene': 'LRRN2', 'score': 6.53}, {'connected_gene': 'PIR53964', 'score': 0.77}, {'connected_gene': 'RNA5SP74', 'score': 0.44}, {'connected_gene': 'GC01M204562', 'score': 0.44}]
chr1	GH01I204542	204542249	204547223	0.79	[{'connected_gene': 'MDM4', 'score': 11.11}, {'connected_gene': 'LRRN2', 'score': 6.5}, {'connected_gene': 'PIR53964', 'score': 0.44}, {'connected_gene': 'LOC100291628', 'score': 0.37}]
chr1	GH01I204831	204831348	204831443	0.43	[{'connected_gene': 'NFASC', 'score': 4.83}, {'connected_gene': 'TMCC2', 'score': 4.56}, {'connected_gene': 'PLEKHA6', 'score': 3.25}, {'connected_gene': 'CNTN2', 'score': 2.9}, {'connected_gene': 'LRRN2', 'score': 1.29}, {'connected_gene': 'PIK3C2B', 'score': 1.17}, {'connected_gene': 'RPL13AP11', 'score': 0.13}]
chr1	GH01I204833	204833386	204835253	0.31	[{'connected_gene': 'NFASC', 'score': 15.64}, {'connected_gene': 'CNTN2', 'score': 9.82}, {'connected_gene': 'LRRN2', 'score': 9.27}, {'connected_gene': 'RPL13AP11', 'score': 0.14}]
chr1	GH01I204892	204892942	204897809	0.43	[{'connected_gene': 'NFASC', 'score': 19.86}, {'connected_gene': 'CNTN2', 'score': 9.85}, {'connected_gene': 'LRRN2', 'score': 9.21}, {'connected_gene': 'RPL13AP11', 'score': 0.23}]
chr1	GH01I204861	204861911	204864039	0.43	[{'connected_gene': 'NFASC', 'score': 22.28}, {'connected_gene': 'CNTN2', 'score': 9.68}, {'connected_gene': 'LRRN2', 'score': 9.37}, {'connected_gene': 'RPL13AP11', 'score': 0.18}]
chr1	GH01I204957	204957994	204965826	0.85	[{'connected_gene': 'NFASC', 'score': 24.73}, {'connected_gene': 'ELK4', 'score': 15.15}, {'connected_gene': 'MDM4', 'score': 13.8}, {'connected_gene': 'CNTN2', 'score': 11.26}, {'connected_gene': 'TMEM81', 'score': 9.83}, {'connected_gene': 'ENSG00000240710', 'score': 9.77}, {'connected_gene': 'PPP1R15B', 'score': 9.77}, {'connected_gene': 'LRRN2', 'score': 9.07}, {'connected_gene': 'RPL13AP11', 'score': 0.37}, {'connected_gene': 'GC01P205019', 'score': 0.22}]
chr1	GH01I204845	204845228	204850800	0.49	[{'connected_gene': 'NFASC', 'score': 18.09}, {'connected_gene': 'ELK4', 'score': 15.15}, {'connected_gene': 'MDM4', 'score': 13.81}, {'connected_gene': 'SNRPE', 'score': 11.11}, {'connected_gene': 'ENSG00000228153', 'score': 10.12}, {'connected_gene': 'CNTN2', 'score': 10.07}, {'connected_gene': 'PPP1R15B', 'score': 9.78}, {'connected_gene': 'LRRN2', 'score': 9.68}, {'connected_gene': 'LOC105371694', 'score': 9.57}, {'connected_gene': 'PLEKHA6', 'score': 4.28}, {'connected_gene': 'RPL13AP11', 'score': 0.15}]
chr1	GH01I204843	204843994	204844774	0.2	[{'connected_gene': 'NFASC', 'score': 14.92}, {'connected_gene': 'LRRN2', 'score': 9.69}, {'connected_gene': 'RPL13AP11', 'score': 0.15}]
chr1	GH01I204842	204842534	204843532	0.69	[{'connected_gene': 'NFASC', 'score': 15.51}, {'connected_gene': 'LRRN2', 'score': 9.69}, {'connected_gene': 'RPL13AP11', 'score': 0.15}]
chr1	GH01I204806	204806593	204807646	1.21	[{'connected_gene': 'NFASC', 'score': 19.11}, {'connected_gene': 'LRRN2', 'score': 10.19}, {'connected_gene': 'GC01P204728', 'score': 0.18}]
chr1	GH01I204752	204752013	204752162	0.69	[{'connected_gene': 'LOC105371694', 'score': 11.09}, {'connected_gene': 'ENSG00000240710', 'score': 10.97}, {'connected_gene': 'ENSG00000228153', 'score': 10.68}, {'connected_gene': 'LRRN2', 'score': 10.24}, {'connected_gene': 'NFASC', 'score': 10.14}, {'connected_gene': 'GC01P204728', 'score': 0.34}]
chr1	GH01I204482	204482679	204483337	0.2	[{'connected_gene': 'LRRN2', 'score': 6.52}, {'connected_gene': 'PIK3C2B', 'score': 5.9}, {'connected_gene': 'PPP1R15B', 'score': 0.19}]
chr1	GH01I204578	204578027	204580138	1.1	[{'connected_gene': 'LRRN2', 'score': 17.1}, {'connected_gene': 'ENSG00000240710', 'score': 12.31}, {'connected_gene': 'ENSG00000228153', 'score': 11.03}, {'connected_gene': 'MDM4', 'score': 10.77}, {'connected_gene': 'RNA5SP74', 'score': 0.37}, {'connected_gene': 'GC01M204562', 'score': 0.37}, {'connected_gene': 'LOC105371692', 'score': 0.37}]
chr1	GH01I204637	204637184	204639184	0.52	[{'connected_gene': 'LRRN2', 'score': 18.52}, {'connected_gene': 'ENSG00000240710', 'score': 11.54}, {'connected_gene': 'MDM4', 'score': 5.51}, {'connected_gene': 'PIR48924', 'score': 0.44}, {'connected_gene': 'GC01P204628', 'score': 0.44}, {'connected_gene': 'ENSG00000228153', 'score': 0.31}]
chr1	GH01I204684	204684215	204684508	0.4	[{'connected_gene': 'LRRN2', 'score': 559.08}, {'connected_gene': 'TMEM81', 'score': 8.56}, {'connected_gene': 'PLEKHA6', 'score': 7.73}, {'connected_gene': 'NFASC', 'score': 3.51}, {'connected_gene': 'ENSG00000228153', 'score': 0.34}]
chr1	GH01I204623	204623003	204624085	0.93	[{'connected_gene': 'LRRN2', 'score': 10.72}, {'connected_gene': 'NFASC', 'score': 10.68}, {'connected_gene': 'LOC105371694', 'score': 10.24}, {'connected_gene': 'ENSG00000240219', 'score': 0.77}, {'connected_gene': 'ENSG00000240710', 'score': 0.34}, {'connected_gene': 'LOC105371692', 'score': 0.31}]
chr1	GH01I204624	204624093	204624135	0.63	[{'connected_gene': 'LRRN2', 'score': 10.72}, {'connected_gene': 'NFASC', 'score': 10.69}, {'connected_gene': 'LOC105371694', 'score': 10.24}, {'connected_gene': 'ENSG00000240219', 'score': 0.77}, {'connected_gene': 'ENSG00000240710', 'score': 0.34}, {'connected_gene': 'LOC105371692', 'score': 0.31}]
chr1	GH01I204731	204731081	204731293	0.64	[{'connected_gene': 'LRRN2', 'score': 11.1}, {'connected_gene': 'NFASC', 'score': 9.63}, {'connected_gene': 'GC01P204728', 'score': 0.77}, {'connected_gene': 'LOC105371694', 'score': 0.77}]
chr1	GH01I204746	204746953	204747102	0.69	[{'connected_gene': 'LRRN2', 'score': 11.15}, {'connected_gene': 'GC01P204728', 'score': 0.37}, {'connected_gene': 'NFASC', 'score': 0.18}]
chr1	GH01I204808	204808173	204808322	0.63	[{'connected_gene': 'LRRN2', 'score': 10.19}, {'connected_gene': 'NFASC', 'score': 0.34}, {'connected_gene': 'GC01P204728', 'score': 0.18}]
chr1	GH01I204672	204672421	204672709	0.99	[{'connected_gene': 'LRRN2', 'score': 3.49}, {'connected_gene': 'PLEKHA6', 'score': 1.32}, {'connected_gene': 'ENSG00000228153', 'score': 0.44}]
chr1	GH01I204652	204652073	204652122	0.54	[{'connected_gene': 'LRRN2', 'score': 11.23}, {'connected_gene': 'ENSG00000228153', 'score': 0.39}, {'connected_gene': 'PIR48924', 'score': 0.34}, {'connected_gene': 'GC01P204628', 'score': 0.34}]
chr1	GH01I204687	204685420	204685479	0.86	[{'connected_gene': 'LRRN2', 'score': 550.77}, {'connected_gene': 'ENSG00000228153', 'score': 0.34}]
chr1	GH01I204671	204671631	204671690	0.61	[{'connected_gene': 'LRRN2', 'score': 550.39}, {'connected_gene': 'ENSG00000228153', 'score': 0.44}]
chr1	GH01I204685	204685000	204685401	1.06	[{'connected_gene': 'LRRN2', 'score': 550.77}, {'connected_gene': 'ENSG00000228153', 'score': 0.34}]
chr1	GH01I204686	204685723	204685782	1.11	[{'connected_gene': 'LRRN2', 'score': 550.77}, {'connected_gene': 'GC01P204706', 'score': 0.34}]
chr1	GH01I204561	204561793	204561942	0.74	[{'connected_gene': 'RNA5SP74', 'score': 550.77}, {'connected_gene': 'GC01M204562', 'score': 550.77}, {'connected_gene': 'ENSG00000240710', 'score': 11.21}, {'connected_gene': 'LRRN2', 'score': 9.96}, {'connected_gene': 'NFASC', 'score': 9.82}, {'connected_gene': 'MDM4', 'score': 6.56}, {'connected_gene': 'PIR53964', 'score': 0.44}]
chr1	GH01I204560	204560340	204560899	0.82	[{'connected_gene': 'RNA5SP74', 'score': 550.77}, {'connected_gene': 'GC01M204562', 'score': 550.77}, {'connected_gene': 'ENSG00000240710', 'score': 11.21}, {'connected_gene': 'LRRN2', 'score': 9.96}, {'connected_gene': 'NFASC', 'score': 9.82}, {'connected_gene': 'PIR53964', 'score': 0.44}, {'connected_gene': 'MDM4', 'score': 0.26}]
chr1	GH01I204505	204505456	204508739	1.53	[{'connected_gene': 'TRK-TTT3-1', 'score': 550.77}, {'connected_gene': 'TRK-TTT3-2', 'score': 550.77}, {'connected_gene': 'ZC3H11A', 'score': 50.08}, {'connected_gene': 'MDM4', 'score': 44.99}, {'connected_gene': 'SNRPE', 'score': 20.97}, {'connected_gene': 'ZBED6', 'score': 11.04}, {'connected_gene': 'RBBP5', 'score': 10.66}, {'connected_gene': 'PPP1R15B', 'score': 9.89}, {'connected_gene': 'LRRN2', 'score': 6.69}, {'connected_gene': 'PIK3C2B', 'score': 5.9}]
chr1	GH01I204574	204574373	204574522	0.2	[{'connected_gene': 'ENSG00000240710', 'score': 12.28}, {'connected_gene': 'ENSG00000228153', 'score': 11.02}, {'connected_gene': 'LRRN2', 'score': 10.48}, {'connected_gene': 'PIK3C2B', 'score': 5.55}, {'connected_gene': 'RNA5SP74', 'score': 0.39}, {'connected_gene': 'GC01M204562', 'score': 0.39}, {'connected_gene': 'LOC105371692', 'score': 0.37}, {'connected_gene': 'MDM4', 'score': 0.22}]
chr1	GH01I204576	204576225	204576987	0.54	[{'connected_gene': 'ENSG00000240710', 'score': 12.28}, {'connected_gene': 'ENSG00000228153', 'score': 11.02}, {'connected_gene': 'LRRN2', 'score': 10.49}, {'connected_gene': 'RNA5SP74', 'score': 0.39}, {'connected_gene': 'GC01M204562', 'score': 0.39}, {'connected_gene': 'LOC105371692', 'score': 0.37}, {'connected_gene': 'MDM4', 'score': 0.21}]
chr1	GH01I204651	204651973	204652022	0.54	[{'connected_gene': 'ENSG00000228153', 'score': 0.39}, {'connected_gene': 'PIR48924', 'score': 0.34}, {'connected_gene': 'GC01P204628', 'score': 0.34}, {'connected_gene': 'LRRN2', 'score': 0.29}]
chr1	GH01I204647	204647400	204648302	1.18	[{'connected_gene': 'ENSG00000228153', 'score': 0.37}, {'connected_gene': 'PIR48924', 'score': 0.37}, {'connected_gene': 'GC01P204628', 'score': 0.37}, {'connected_gene': 'LRRN2', 'score': 0.28}]