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
ENST00000449440	[[89990394, 89990581], [89992520, 89992545], [90033805, 90033866], [90033997, 90034052], [90045149, 90045247], [90048183, 90048520]]	[[90048209, 90048520]]
ENST00000358200	[[89990461, 89990581], [90015473, 90015530], [90024269, 90024595], [90033805, 90033866], [90033997, 90034052], [90045149, 90045247], [90048183, 90050348], [90058329, 90058936]]	[[90048209, 90050348], [90058329, 90058602]]
ENST00000330947	[[89990461, 89990581], [90033805, 90033866], [90033997, 90034052], [90045149, 90045247], [90048183, 90050348], [90058329, 90063423]]	[[90048209, 90050348], [90058329, 90058602]]
ENST00000439853	[[90033799, 90033866], [90033997, 90034052], [90045149, 90045247], [90048183, 90050348], [90058329, 90063418]]	[[90048209, 90050348], [90058329, 90058602]]
NM_001134476	[[89990396, 89990581], [89992520, 89992545], [90015473, 90015530], [90033805, 90033866], [90033997, 90034052], [90045149, 90045247], [90048183, 90050348], [90058329, 90063420]]	[[90048209, 90050348], [90058329, 90058602]]
NM_015350	[[90024271, 90024595], [90033805, 90033866], [90033997, 90034052], [90045149, 90045247], [90048183, 90050348], [90058329, 90063420]]	[[90048209, 90050348], [90058329, 90058602]]

Promoter

Chrom	Start	End	Description
chr1	89989891	89989907	CAGE_peak_3_at_LRRC8B_5end
chr1	89990378	89990429	CAGE_peak_2_at_LRRC8B_5end
chr1	89990431	89990493	CAGE_peak_1_at_LRRC8B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I089444	89444875	89445205	0.27	[{'connected_gene': 'LRRC8C', 'score': 17.72}, {'connected_gene': 'GBP3', 'score': 9.44}, {'connected_gene': 'GBP2', 'score': 6.8}, {'connected_gene': 'GBP4', 'score': 3.02}, {'connected_gene': 'GBP1', 'score': 2.84}, {'connected_gene': 'LRRC8B', 'score': 1.91}, {'connected_gene': 'PIR33822', 'score': 0.37}, {'connected_gene': 'GC01M089463', 'score': 0.34}]
chr1	GH01I089590	89590208	89591234	0.58	[{'connected_gene': 'LRRC8C', 'score': 11.57}, {'connected_gene': 'LRRC8C-DT', 'score': 11.52}, {'connected_gene': 'LRRC8D', 'score': 10.89}, {'connected_gene': 'GC01M089607', 'score': 0.37}, {'connected_gene': 'LOC105378845', 'score': 0.28}, {'connected_gene': 'LRRC8B', 'score': 0.2}]
chr1	GH01I089518	89518601	89518800	0.51	[{'connected_gene': 'LRRC8C', 'score': 10.77}, {'connected_gene': 'LRRC8C-DT', 'score': 10.76}, {'connected_gene': 'LRRC8B', 'score': 7.63}, {'connected_gene': 'LOC105378844', 'score': 0.28}]
chr1	GH01I089516	89516162	89516311	0.92	[{'connected_gene': 'LRRC8C', 'score': 10.26}, {'connected_gene': 'LRRC8C-DT', 'score': 10.24}, {'connected_gene': 'LRRC8B', 'score': 0.44}, {'connected_gene': 'LOC105378844', 'score': 0.28}]
chr1	GH01I089520	89520084	89521185	0.54	[{'connected_gene': 'LRRC8C', 'score': 10.77}, {'connected_gene': 'LRRC8C-DT', 'score': 10.76}, {'connected_gene': 'LRRC8B', 'score': 7.35}, {'connected_gene': 'LOC105378844', 'score': 0.26}]
chr1	GH01I089519	89519902	89520051	0.77	[{'connected_gene': 'LRRC8C', 'score': 10.77}, {'connected_gene': 'LRRC8C-DT', 'score': 10.76}, {'connected_gene': 'LRRC8B', 'score': 0.77}, {'connected_gene': 'LOC105378844', 'score': 0.26}]
chr1	GH01I089672	89672182	89672515	1.18	[{'connected_gene': 'LRRC8C', 'score': 36.18}, {'connected_gene': 'LRRC8C-DT', 'score': 11.74}, {'connected_gene': 'GBP4', 'score': 8.66}, {'connected_gene': 'GBP5', 'score': 6.33}, {'connected_gene': 'ZNF326', 'score': 2.65}, {'connected_gene': 'LRRC8B', 'score': 1.6}, {'connected_gene': 'LRRC8D', 'score': 1.17}, {'connected_gene': 'LOC100505788', 'score': 0.39}, {'connected_gene': 'GC01P089694', 'score': 0.34}, {'connected_gene': 'ENSG00000271949', 'score': 0.28}, {'connected_gene': 'ENSG00000230735', 'score': 0.26}]
chr1	GH01I089631	89631751	89637924	2.51	[{'connected_gene': 'LRRC8C', 'score': 572.06}, {'connected_gene': 'ENSG00000271949', 'score': 550.77}, {'connected_gene': 'LRRC8C-DT', 'score': 550.77}, {'connected_gene': 'LOC101927975', 'score': 9.09}, {'connected_gene': 'LRRC8D', 'score': 5.35}, {'connected_gene': 'GBP4', 'score': 4.33}, {'connected_gene': 'GBP5', 'score': 2.46}, {'connected_gene': 'ZNF326', 'score': 1.76}, {'connected_gene': 'LRRC8B', 'score': 1.54}, {'connected_gene': 'ENSG00000230735', 'score': 0.44}, {'connected_gene': 'LOC100505788', 'score': 0.31}]
chr1	GH01I089451	89451099	89451248	0.52	[{'connected_gene': 'LRRC8C', 'score': 17.31}, {'connected_gene': 'GBP6', 'score': 11.08}, {'connected_gene': 'GBP3', 'score': 9.36}, {'connected_gene': 'GBP2', 'score': 6.71}, {'connected_gene': 'GBP4', 'score': 2.81}, {'connected_gene': 'GBP1', 'score': 2.36}, {'connected_gene': 'LRRC8B', 'score': 1.81}, {'connected_gene': 'GC01M089463', 'score': 0.37}, {'connected_gene': 'PIR33822', 'score': 0.34}]
chr1	GH01I089669	89669328	89671421	1.48	[{'connected_gene': 'LRRC8C', 'score': 25.28}, {'connected_gene': 'LOC101927975', 'score': 15.34}, {'connected_gene': 'LRRC8C-DT', 'score': 11.94}, {'connected_gene': 'GBP4', 'score': 11.37}, {'connected_gene': 'GBP5', 'score': 10.59}, {'connected_gene': 'LRRC8D', 'score': 9.96}, {'connected_gene': 'ZNF326', 'score': 3.01}, {'connected_gene': 'LRRC8B', 'score': 1.38}, {'connected_gene': 'LOC100505788', 'score': 0.44}, {'connected_gene': 'GC01P089694', 'score': 0.34}, {'connected_gene': 'ENSG00000271949', 'score': 0.28}, {'connected_gene': 'ENSG00000230735', 'score': 0.26}]
chr1	GH01I089900	89900143	89913286	1.76	[{'connected_gene': 'LRRC8D', 'score': 17.37}, {'connected_gene': 'LRRC8C', 'score': 13.82}, {'connected_gene': 'ZNF326', 'score': 13.39}, {'connected_gene': 'RN7SKP272', 'score': 10.99}, {'connected_gene': 'GEMIN8P4', 'score': 10.98}, {'connected_gene': 'LRRC8B', 'score': 1.96}, {'connected_gene': 'GC01M089909', 'score': 0.77}, {'connected_gene': 'GC01P089867', 'score': 0.28}, {'connected_gene': 'ENSG00000271949', 'score': 0.06}]
chr1	GH01I089483	89483382	89483531	0.62	[{'connected_gene': 'LRRC8D', 'score': 10.09}, {'connected_gene': 'LRRC8B', 'score': 9.59}, {'connected_gene': 'LOC105378844', 'score': 0.77}]
chr1	GH01I089407	89407400	89408800	0.73	[{'connected_gene': 'GBP1P1', 'score': 566.22}, {'connected_gene': 'LRRC8B', 'score': 5.95}, {'connected_gene': 'PIR33822', 'score': 0.34}]
chr1	GH01I089488	89488662	89489752	0.51	[{'connected_gene': 'LRRC8B', 'score': 26.91}, {'connected_gene': 'LRRC8C', 'score': 10.4}, {'connected_gene': 'LRRC8C-DT', 'score': 10.38}, {'connected_gene': 'LRRC8D', 'score': 10.33}, {'connected_gene': 'LOC105378844', 'score': 0.44}]
chr1	GH01I089552	89552274	89553600	1.16	[{'connected_gene': 'LRRC8B', 'score': 38.82}, {'connected_gene': 'LRRC8C', 'score': 10.18}, {'connected_gene': 'LRRC8C-DT', 'score': 10.15}, {'connected_gene': 'LOC105378845', 'score': 0.77}]
chr1	GH01I089523	89523254	89526856	2.29	[{'connected_gene': 'LRRC8B', 'score': 561.47}, {'connected_gene': 'PKN2', 'score': 26.17}, {'connected_gene': 'GTF2B', 'score': 15.28}, {'connected_gene': 'ELOCP19', 'score': 4.29}, {'connected_gene': 'LOC105378845', 'score': 0.29}]
chr1	GH01I089565	89565032	89567697	1.31	[{'connected_gene': 'LRRC8B', 'score': 31.11}, {'connected_gene': 'LRRC8D', 'score': 1.9}, {'connected_gene': 'LRRC8C', 'score': 1.39}, {'connected_gene': 'GBP2', 'score': 1.39}, {'connected_gene': 'LOC105378845', 'score': 0.39}, {'connected_gene': 'GC01M089607', 'score': 0.26}]
chr1	GH01I089555	89555925	89558573	1.23	[{'connected_gene': 'LRRC8B', 'score': 30.86}, {'connected_gene': 'LRRC8D', 'score': 12.37}, {'connected_gene': 'GBP2', 'score': 3.74}, {'connected_gene': 'LRRC8C', 'score': 2.72}, {'connected_gene': 'GBP4', 'score': 2.36}, {'connected_gene': 'GBP1', 'score': 2.02}, {'connected_gene': 'GBP5', 'score': 1.38}, {'connected_gene': 'ZNF326', 'score': 1.17}, {'connected_gene': 'LOC105378845', 'score': 0.77}, {'connected_gene': 'GC01M089607', 'score': 0.23}]
chr1	GH01I089587	89587444	89588991	0.72	[{'connected_gene': 'LRRC8B', 'score': 41.94}, {'connected_gene': 'LRRC8D', 'score': 9.4}, {'connected_gene': 'GC01M089607', 'score': 0.37}, {'connected_gene': 'LOC105378845', 'score': 0.29}, {'connected_gene': 'LRRC8C-DT', 'score': 0.26}]
chr1	GH01I089537	89537430	89539707	1.24	[{'connected_gene': 'LRRC8B', 'score': 24.74}, {'connected_gene': 'GBP1P1', 'score': 4.18}, {'connected_gene': 'LOC105378845', 'score': 0.37}]
chr1	GH01I089539	89539737	89543570	0.76	[{'connected_gene': 'LRRC8B', 'score': 24.82}, {'connected_gene': 'LOC105378845', 'score': 0.39}]
chr1	GH01I089530	89530580	89531060	0.2	[{'connected_gene': 'LRRC8B', 'score': 24.67}, {'connected_gene': 'LOC105378845', 'score': 0.34}]
chr1	GH01I089544	89544036	89550671	1.41	[{'connected_gene': 'LRRC8B', 'score': 25.68}, {'connected_gene': 'LOC105378845', 'score': 0.44}]
chr1	GH01I089573	89573827	89576672	0.63	[{'connected_gene': 'LRRC8B', 'score': 26.98}, {'connected_gene': 'LOC105378845', 'score': 0.34}, {'connected_gene': 'GC01M089607', 'score': 0.29}]
chr1	GH01I089568	89568204	89568263	0.81	[{'connected_gene': 'LRRC8B', 'score': 550.26}, {'connected_gene': 'LOC105378845', 'score': 0.39}, {'connected_gene': 'GC01M089607', 'score': 0.28}]
chr1	GH01I089533	89533116	89533894	0.31	[{'connected_gene': 'LRRC8B', 'score': 0.44}, {'connected_gene': 'LOC105378845', 'score': 0.34}]
chr1	GH01I089534	89534351	89536797	0.38	[{'connected_gene': 'LRRC8B', 'score': 12.1}, {'connected_gene': 'LOC105378845', 'score': 0.37}]
chr1	GH01I089365	89365052	89365657	0.2	[{'connected_gene': 'GBP6', 'score': 550.77}, {'connected_gene': 'LRRC8B', 'score': 4.7}, {'connected_gene': 'CAPNS1P1', 'score': 0.31}]
chr1	GH01I089362	89362835	89364608	1.36	[{'connected_gene': 'GBP6', 'score': 554.85}, {'connected_gene': 'LRRC8B', 'score': 4.67}, {'connected_gene': 'LOC101927975', 'score': 4.29}, {'connected_gene': 'PIR56754', 'score': 0.34}]
chr1	GH01I089421	89421907	89422279	0.29	[{'connected_gene': 'GBP5', 'score': 18.36}, {'connected_gene': 'GBP4', 'score': 18.19}, {'connected_gene': 'GBP2', 'score': 17.08}, {'connected_gene': 'GBP1', 'score': 15.62}, {'connected_gene': 'GBP7', 'score': 9.38}, {'connected_gene': 'LRRC8C', 'score': 8.92}, {'connected_gene': 'LRRC8B', 'score': 5.62}, {'connected_gene': 'GBP3', 'score': 3.8}, {'connected_gene': 'PIR33822', 'score': 0.44}, {'connected_gene': 'GBP1P1', 'score': 0.39}]
chr1	GH01I089358	89358600	89358800	0.63	[{'connected_gene': 'GBP4', 'score': 10.92}, {'connected_gene': 'GBP5', 'score': 10.74}, {'connected_gene': 'LRRC8B', 'score': 4.75}, {'connected_gene': 'GBP6', 'score': 0.44}, {'connected_gene': 'PIR56754', 'score': 0.37}]
chr1	GH01I089556	89555622	89555771	0.74	[{'connected_gene': 'LOC105378845', 'score': 550.77}, {'connected_gene': 'LRRC8B', 'score': 12.72}, {'connected_gene': 'LRRC8C', 'score': 10.18}, {'connected_gene': 'LRRC8C-DT', 'score': 10.15}, {'connected_gene': 'LRRC8D', 'score': 9.63}, {'connected_gene': 'GC01M089607', 'score': 0.23}]
chr1	GH01I089723	89723365	89726134	1.47	[{'connected_gene': 'LOC101927975', 'score': 25.15}, {'connected_gene': 'LRRC8C', 'score': 22.62}, {'connected_gene': 'LRRC8C-DT', 'score': 10.99}, {'connected_gene': 'LRRC8D', 'score': 10.3}, {'connected_gene': 'GBP5', 'score': 2.32}, {'connected_gene': 'ZNF326', 'score': 1.38}, {'connected_gene': 'LRRC8B', 'score': 1.33}, {'connected_gene': 'GC01P089694', 'score': 0.29}, {'connected_gene': 'GC01P089762', 'score': 0.28}, {'connected_gene': 'ENSG00000271949', 'score': 0.16}]
chr1	GH01I089761	89761414	89761584	0.26	[{'connected_gene': 'GC01P089762', 'score': 550.77}, {'connected_gene': 'LRRC8C', 'score': 12.65}, {'connected_gene': 'LRRC8D', 'score': 11.21}, {'connected_gene': 'GBP5', 'score': 1.6}, {'connected_gene': 'ZNF326', 'score': 1.32}, {'connected_gene': 'LRRC8B', 'score': 1.21}, {'connected_gene': 'LOC101927952', 'score': 0.77}, {'connected_gene': 'GC01M089737', 'score': 0.39}, {'connected_gene': 'GC01P089694', 'score': 0.2}, {'connected_gene': 'ENSG00000271949', 'score': 0.13}]
chr1	GH01I089606	89606200	89609400	0.99	[{'connected_gene': 'GC01M089607', 'score': 550.77}, {'connected_gene': 'LRRC8C-DT', 'score': 17.17}, {'connected_gene': 'LRRC8D', 'score': 5.21}, {'connected_gene': 'LRRC8B', 'score': 4.85}, {'connected_gene': 'LOC105378845', 'score': 0.23}]
chr1	GH01I089599	89599202	89599291	0.76	[{'connected_gene': 'GC01M089607', 'score': 0.44}, {'connected_gene': 'LRRC8C-DT', 'score': 0.29}, {'connected_gene': 'LOC105378845', 'score': 0.26}, {'connected_gene': 'LRRC8B', 'score': 0.18}]
chr1	GH01I089592	89592650	89593200	1.04	[{'connected_gene': 'GC01M089607', 'score': 0.37}, {'connected_gene': 'LRRC8C-DT', 'score': 0.28}, {'connected_gene': 'LOC105378845', 'score': 0.28}, {'connected_gene': 'LRRC8B', 'score': 0.2}]
chr1	GH01I089589	89589622	89589771	0.49	[{'connected_gene': 'GC01M089607', 'score': 0.37}, {'connected_gene': 'LOC105378845', 'score': 0.29}, {'connected_gene': 'LRRC8C-DT', 'score': 0.26}, {'connected_gene': 'LRRC8B', 'score': 0.2}]