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
ENST00000553390	[[10582908, 10584176], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697357]]	[[10583247, 10584176], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697266]]
ENST00000304501	[[10581277, 10584176], [10587705, 10588022]]	[[10583247, 10584176], [10587705, 10587943]]
NM_031439	[[10581277, 10584176], [10587705, 10588084]]	[[10583247, 10584176], [10587705, 10587943]]

Promoter

Chrom	Start	End	Description
chr8	10588010	10588030	CAGE_peak_1_at_SOX7_5end
chr8	10588174	10588200	CAGE_peak_3_at_SOX7_5end
chr8	10697329	10697365	CAGE_peak_2_at_PINX1_5end,CAGE_peak_2_at_SOX7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I010735	10735064	10736074	0.43	[{'connected_gene': 'RP1L1', 'score': 21.83}, {'connected_gene': 'SOX7', 'score': 5.23}, {'connected_gene': 'BLK', 'score': 5.22}, {'connected_gene': 'LOC102723313', 'score': 0.44}, {'connected_gene': 'GC08M010757', 'score': 0.31}, {'connected_gene': 'ENSG00000258724', 'score': 0.15}]
chr8	GH08I010736	10736314	10737220	0.69	[{'connected_gene': 'RP1L1', 'score': 11.36}, {'connected_gene': 'ENSG00000255310', 'score': 8.35}, {'connected_gene': 'SOX7', 'score': 0.44}, {'connected_gene': 'LOC102723313', 'score': 0.44}, {'connected_gene': 'GC08M010757', 'score': 0.34}, {'connected_gene': 'ENSG00000258724', 'score': 0.15}]
chr8	GH08I010732	10732891	10733040	0.63	[{'connected_gene': 'RP1L1', 'score': 12.05}, {'connected_gene': 'SOX7', 'score': 0.77}, {'connected_gene': 'LOC102723313', 'score': 0.77}, {'connected_gene': 'GC08M010757', 'score': 0.31}, {'connected_gene': 'ENSG00000258724', 'score': 0.14}]
chr8	GH08I010738	10732651	10732800	0.63	[{'connected_gene': 'RP1L1', 'score': 12.05}, {'connected_gene': 'SOX7', 'score': 0.77}, {'connected_gene': 'LOC102723313', 'score': 0.77}, {'connected_gene': 'GC08M010757', 'score': 0.31}, {'connected_gene': 'ENSG00000258724', 'score': 0.14}]
chr8	GH08I010734	10734531	10734720	0.72	[{'connected_gene': 'RP1L1', 'score': 12.05}, {'connected_gene': 'SOX7', 'score': 5.0}, {'connected_gene': 'LOC102723313', 'score': 0.44}, {'connected_gene': 'GC08M010757', 'score': 0.31}, {'connected_gene': 'ENSG00000258724', 'score': 0.14}]
chr8	GH08I010733	10733498	10733611	0.6	[{'connected_gene': 'RP1L1', 'score': 14.03}, {'connected_gene': 'SOX7', 'score': 2.49}, {'connected_gene': 'LOC102723313', 'score': 0.44}, {'connected_gene': 'GC08M010757', 'score': 0.31}, {'connected_gene': 'ENSG00000258724', 'score': 0.14}]
chr8	GH08I010737	10734251	10734440	0.69	[{'connected_gene': 'RP1L1', 'score': 19.53}, {'connected_gene': 'SOX7', 'score': 0.77}, {'connected_gene': 'LOC102723313', 'score': 0.44}, {'connected_gene': 'GC08M010757', 'score': 0.31}, {'connected_gene': 'ENSG00000258724', 'score': 0.14}]
chr8	GH08I010709	10709974	10713446	1.22	[{'connected_gene': 'RP1L1', 'score': 550.77}, {'connected_gene': 'ENSG00000269918', 'score': 6.49}, {'connected_gene': 'SOX7', 'score': 5.53}, {'connected_gene': 'RNA5SP252', 'score': 0.31}]
chr8	GH08I010713	10713951	10714100	0.66	[{'connected_gene': 'RP1L1', 'score': 550.77}, {'connected_gene': 'C8orf74', 'score': 11.58}, {'connected_gene': 'ENSG00000269918', 'score': 6.91}, {'connected_gene': 'SOX7', 'score': 6.32}, {'connected_gene': 'LOC102723313', 'score': 0.39}]
chr8	GH08I010798	10798443	10802449	1.59	[{'connected_gene': 'RP1L1', 'score': 17.54}, {'connected_gene': 'C8orf74', 'score': 11.07}, {'connected_gene': 'LOC102723313', 'score': 10.28}, {'connected_gene': 'ENSG00000269918', 'score': 9.01}, {'connected_gene': 'SOX7', 'score': 8.94}, {'connected_gene': 'ENSG00000255310', 'score': 4.59}, {'connected_gene': 'GC08M010803', 'score': 0.77}, {'connected_gene': 'PINX1', 'score': 0.28}, {'connected_gene': 'ENSG00000258724', 'score': 0.28}, {'connected_gene': 'GC08M010757', 'score': 0.28}]
chr8	GH08I010775	10775585	10778900	1.62	[{'connected_gene': 'RP1L1', 'score': 19.97}, {'connected_gene': 'LOC101929290', 'score': 12.79}, {'connected_gene': 'PINX1', 'score': 10.5}, {'connected_gene': 'SOX7', 'score': 9.25}, {'connected_gene': 'ENSG00000255310', 'score': 8.84}, {'connected_gene': 'ENSG00000269918', 'score': 5.62}, {'connected_gene': 'GC08M010757', 'score': 0.37}, {'connected_gene': 'GC08M010803', 'score': 0.31}, {'connected_gene': 'LOC102723313', 'score': 0.25}, {'connected_gene': 'ENSG00000258724', 'score': 0.21}]
chr8	GH08I010812	10812862	10814944	0.84	[{'connected_gene': 'SOX7', 'score': 17.12}, {'connected_gene': 'RP1L1', 'score': 16.17}, {'connected_gene': 'PINX1', 'score': 11.47}, {'connected_gene': 'LOC101929229', 'score': 11.47}, {'connected_gene': 'ENSG00000269918', 'score': 9.61}, {'connected_gene': 'GC08M010803', 'score': 0.44}, {'connected_gene': 'MIR1322', 'score': 0.39}, {'connected_gene': 'ENSG00000258724', 'score': 0.31}]
chr8	GH08I010587	10587431	10587580	0.72	[{'connected_gene': 'SOX7', 'score': 11.67}, {'connected_gene': 'PINX1', 'score': 11.63}, {'connected_gene': 'LOC101929229', 'score': 11.63}, {'connected_gene': 'RP1L1', 'score': 10.29}, {'connected_gene': 'LOC102723313', 'score': 5.64}, {'connected_gene': 'LOC105379237', 'score': 0.44}, {'connected_gene': 'MIR4286', 'score': 0.18}]
chr8	GH08I010584	10584491	10585549	0.38	[{'connected_gene': 'SOX7', 'score': 11.67}, {'connected_gene': 'LOC101929229', 'score': 11.63}, {'connected_gene': 'PINX1', 'score': 11.63}, {'connected_gene': 'RP1L1', 'score': 10.29}, {'connected_gene': 'LOC101929290', 'score': 4.44}, {'connected_gene': 'LOC105379237', 'score': 0.77}, {'connected_gene': 'MIR4286', 'score': 0.18}]
chr8	GH08I010714	10714606	10717875	1.5	[{'connected_gene': 'C8orf74', 'score': 11.58}, {'connected_gene': 'ENSG00000269918', 'score': 8.28}, {'connected_gene': 'SOX7', 'score': 6.85}, {'connected_gene': 'RP1L1', 'score': 5.38}, {'connected_gene': 'LOC102723313', 'score': 0.39}]
chr8	GH08I010760	10760551	10761659	0.82	[{'connected_gene': 'GC08M010757', 'score': 550.77}, {'connected_gene': 'RP1L1', 'score': 20.39}, {'connected_gene': 'SOX7', 'score': 5.55}, {'connected_gene': 'LOC102723313', 'score': 0.29}, {'connected_gene': 'ENSG00000258724', 'score': 0.18}]
chr8	GH08I010804	10804851	10807000	0.63	[{'connected_gene': 'GC08M010803', 'score': 550.77}, {'connected_gene': 'RP1L1', 'score': 17.26}, {'connected_gene': 'SOX7', 'score': 9.33}, {'connected_gene': 'ENSG00000269918', 'score': 9.02}, {'connected_gene': 'MIR1322', 'score': 0.37}, {'connected_gene': 'PINX1', 'score': 0.29}, {'connected_gene': 'ENSG00000258724', 'score': 0.29}]
chr8	GH08I010818	10818713	10819242	1.04	[{'connected_gene': 'ENSG00000269954', 'score': 10.15}, {'connected_gene': 'RP1L1', 'score': 9.89}, {'connected_gene': 'SOX7', 'score': 7.2}, {'connected_gene': 'ENSG00000269918', 'score': 5.79}, {'connected_gene': 'MIR1322', 'score': 0.44}, {'connected_gene': 'GC08M010803', 'score': 0.39}, {'connected_gene': 'PINX1', 'score': 0.34}, {'connected_gene': 'ENSG00000258724', 'score': 0.34}]
chr8	GH08I010783	10783314	10785030	0.82	[{'connected_gene': 'ENSG00000269918', 'score': 8.74}, {'connected_gene': 'SOX7', 'score': 7.63}, {'connected_gene': 'RP1L1', 'score': 6.63}, {'connected_gene': 'GC08M010803', 'score': 0.34}, {'connected_gene': 'GC08M010757', 'score': 0.34}, {'connected_gene': 'PINX1', 'score': 0.22}, {'connected_gene': 'ENSG00000258724', 'score': 0.22}]
chr8	GH08I010787	10787529	10790613	1.12	[{'connected_gene': 'ENSG00000255310', 'score': 10.14}, {'connected_gene': 'SOX7', 'score': 8.73}, {'connected_gene': 'RP1L1', 'score': 6.3}, {'connected_gene': 'ENSG00000269918', 'score': 5.43}, {'connected_gene': 'GC08M010803', 'score': 0.37}, {'connected_gene': 'GC08M010757', 'score': 0.31}, {'connected_gene': 'PINX1', 'score': 0.23}, {'connected_gene': 'ENSG00000258724', 'score': 0.23}]
chr8	GH08I010728	10728561	10731134	1.97	[{'connected_gene': 'GC08M010730', 'score': 550.77}, {'connected_gene': 'SOX7', 'score': 550.77}, {'connected_gene': 'LOC102723313', 'score': 550.77}, {'connected_gene': 'C8orf74', 'score': 11.77}, {'connected_gene': 'RP1L1', 'score': 7.95}, {'connected_gene': 'ENSG00000269918', 'score': 7.65}, {'connected_gene': 'ENSG00000258724', 'score': 0.14}]