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
ENST00000318528	[[99076538, 99076955], [99101303, 99102257], [99105448, 99105838]]	[[99076897, 99076955], [99101303, 99102257], [99105448, 99105561]]
ENST00000545282	[[99076749, 99076955], [99105448, 99105838]]	[[99076897, 99076955], [99105448, 99105561]]
NM_001170806	[[99076749, 99076955], [99105448, 99105838]]	[[99076897, 99076955], [99105448, 99105561]]
NM_173549	[[99076749, 99076955], [99101303, 99102257], [99105448, 99105838]]	[[99076897, 99076955], [99101303, 99102257], [99105448, 99105561]]

Promoter

Chrom	Start	End	Description
chr8	99076509	99076530	CAGE_peak_4_at_C8orf47_5end
chr8	99076582	99076599	CAGE_peak_6_at_C8orf47_5end
chr8	99076762	99076782	CAGE_peak_3_at_C8orf47_5end
chr8	99076787	99076809	CAGE_peak_1_at_C8orf47_5end
chr8	99076820	99076848	CAGE_peak_2_at_C8orf47_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I098001	98001373	98002814	1.05	[{'connected_gene': 'RPS23P1', 'score': 11.19}, {'connected_gene': 'MATN2', 'score': 11.19}, {'connected_gene': 'ERICH5', 'score': 10.76}, {'connected_gene': 'ENSG00000202399', 'score': 10.26}, {'connected_gene': 'LAPTM4B', 'score': 10.26}, {'connected_gene': 'ENSG00000245970', 'score': 5.03}, {'connected_gene': 'GC08P097993', 'score': 0.44}, {'connected_gene': 'GC08M098021', 'score': 0.34}, {'connected_gene': 'GC08P097916', 'score': 0.17}]
chr8	GH08I098068	98068753	98068942	0.89	[{'connected_gene': 'RPL30', 'score': 11.53}, {'connected_gene': 'SNORA72', 'score': 11.06}, {'connected_gene': 'ENSG00000245970', 'score': 11.06}, {'connected_gene': 'RPS23P1', 'score': 9.94}, {'connected_gene': 'MATN2', 'score': 9.94}, {'connected_gene': 'ENSG00000202399', 'score': 9.31}, {'connected_gene': 'LAPTM4B', 'score': 9.31}, {'connected_gene': 'RNU6-914P', 'score': 8.8}, {'connected_gene': 'ERICH5', 'score': 0.77}, {'connected_gene': 'GC08P098099', 'score': 0.29}, {'connected_gene': 'GC08P097993', 'score': 0.18}]
chr8	GH08I097829	97829671	97829710	0.24	[{'connected_gene': 'LAPTM4B', 'score': 29.03}, {'connected_gene': 'ENSG00000202399', 'score': 11.28}, {'connected_gene': 'RPS23P1', 'score': 10.8}, {'connected_gene': 'MATN2', 'score': 10.8}, {'connected_gene': 'RPL30', 'score': 10.18}, {'connected_gene': 'SNORA72', 'score': 10.18}, {'connected_gene': 'ENSG00000245970', 'score': 10.18}, {'connected_gene': 'ERICH5', 'score': 9.86}, {'connected_gene': 'POP1', 'score': 2.67}, {'connected_gene': 'PIR33604', 'score': 0.44}, {'connected_gene': 'GC08M097844', 'score': 0.37}]
chr8	GH08I097830	97830481	97832493	0.98	[{'connected_gene': 'LAPTM4B', 'score': 30.1}, {'connected_gene': 'ENSG00000245970', 'score': 25.24}, {'connected_gene': 'RPL30', 'score': 21.63}, {'connected_gene': 'MATN2', 'score': 19.07}, {'connected_gene': 'ENSG00000202399', 'score': 11.28}, {'connected_gene': 'RPS23P1', 'score': 10.82}, {'connected_gene': 'SNORA72', 'score': 10.18}, {'connected_gene': 'ERICH5', 'score': 9.86}, {'connected_gene': 'POP1', 'score': 2.15}, {'connected_gene': 'PIR33604', 'score': 0.44}, {'connected_gene': 'GC08M097844', 'score': 0.39}]
chr8	GH08I097889	97889998	97891702	0.75	[{'connected_gene': 'MATN2', 'score': 17.35}, {'connected_gene': 'RPS23P1', 'score': 12.76}, {'connected_gene': 'LAPTM4B', 'score': 10.42}, {'connected_gene': 'ENSG00000202399', 'score': 10.42}, {'connected_gene': 'ERICH5', 'score': 10.41}, {'connected_gene': 'GC08P097916', 'score': 0.31}]
chr8	GH08I097994	97994773	97997558	0.89	[{'connected_gene': 'MATN2', 'score': 16.39}, {'connected_gene': 'RPS23P1', 'score': 11.19}, {'connected_gene': 'ERICH5', 'score': 10.75}, {'connected_gene': 'ENSG00000202399', 'score': 10.26}, {'connected_gene': 'LAPTM4B', 'score': 10.26}, {'connected_gene': 'ENSG00000245970', 'score': 4.4}, {'connected_gene': 'GC08P097993', 'score': 0.77}, {'connected_gene': 'GC08M098021', 'score': 0.31}, {'connected_gene': 'GC08P097916', 'score': 0.18}]
chr8	GH08I097956	97956780	97957974	0.38	[{'connected_gene': 'MATN2', 'score': 11.21}, {'connected_gene': 'RPS23P1', 'score': 11.2}, {'connected_gene': 'ERICH5', 'score': 10.19}, {'connected_gene': 'GC08M097916', 'score': 0.28}, {'connected_gene': 'GC08P097993', 'score': 0.28}, {'connected_gene': 'GC08P097916', 'score': 0.26}]
chr8	GH08I097911	97911023	97913380	0.71	[{'connected_gene': 'MATN2', 'score': 16.09}, {'connected_gene': 'RPS23P1', 'score': 11.7}, {'connected_gene': 'ERICH5', 'score': 9.7}, {'connected_gene': 'GC08P097916', 'score': 0.77}]
chr8	GH08I098070	98070893	98072162	0.66	[{'connected_gene': 'MATN2', 'score': 5.08}, {'connected_gene': 'ERICH5', 'score': 0.44}, {'connected_gene': 'GC08P098099', 'score': 0.31}, {'connected_gene': 'GC08P097993', 'score': 0.18}]
chr8	GH08I097931	97931702	97934679	0.93	[{'connected_gene': 'ERICH5', 'score': 10.98}, {'connected_gene': 'MATN2', 'score': 6.92}, {'connected_gene': 'GC08M097916', 'score': 0.39}, {'connected_gene': 'GC08P097916', 'score': 0.37}, {'connected_gene': 'GC08P097993', 'score': 0.21}]
chr8	GH08I097936	97936799	97937630	0.49	[{'connected_gene': 'ERICH5', 'score': 10.3}, {'connected_gene': 'MATN2', 'score': 6.19}, {'connected_gene': 'GC08M097916', 'score': 0.37}, {'connected_gene': 'GC08P097916', 'score': 0.34}, {'connected_gene': 'GC08P097993', 'score': 0.22}]
chr8	GH08I097949	97949880	97953042	1.17	[{'connected_gene': 'ERICH5', 'score': 10.43}, {'connected_gene': 'GC08M097916', 'score': 0.29}, {'connected_gene': 'GC08P097916', 'score': 0.28}, {'connected_gene': 'GC08P097993', 'score': 0.26}, {'connected_gene': 'MATN2', 'score': 0.18}]
chr8	GH08I098064	98064247	98065200	1.87	[{'connected_gene': 'ERICH5', 'score': 555.28}, {'connected_gene': 'POP1', 'score': 12.26}, {'connected_gene': 'ENSG00000245970', 'score': 11.75}, {'connected_gene': 'GC08P098099', 'score': 0.29}, {'connected_gene': 'GC08P097993', 'score': 0.19}]
chr8	GH08I098085	98085581	98086000	1.03	[{'connected_gene': 'ERICH5', 'score': 11.79}, {'connected_gene': 'RIDA', 'score': 10.94}, {'connected_gene': 'POP1', 'score': 10.94}, {'connected_gene': 'MATN2', 'score': 10.74}, {'connected_gene': 'RPS23P1', 'score': 10.74}, {'connected_gene': 'RPL30', 'score': 10.7}, {'connected_gene': 'SNORA72', 'score': 10.68}, {'connected_gene': 'ENSG00000245970', 'score': 10.68}, {'connected_gene': 'GC08P098099', 'score': 0.39}, {'connected_gene': 'GC08P097993', 'score': 0.16}]
chr8	GH08I098416	98416253	98417204	0.51	[{'connected_gene': 'ERICH5', 'score': 4.81}, {'connected_gene': 'LOC100131849', 'score': 0.77}, {'connected_gene': 'KCNS2', 'score': 0.39}, {'connected_gene': 'STK3', 'score': 0.03}]
chr8	GH08I098031	98031215	98032992	0.38	[{'connected_gene': 'GC08M098007', 'score': 550.77}, {'connected_gene': 'RPS23P1', 'score': 11.42}, {'connected_gene': 'MATN2', 'score': 11.41}, {'connected_gene': 'ERICH5', 'score': 10.84}, {'connected_gene': 'ENSG00000245970', 'score': 0.44}, {'connected_gene': 'RPL30', 'score': 0.39}, {'connected_gene': 'GC08P097993', 'score': 0.28}, {'connected_gene': 'GC08P097916', 'score': 0.13}]
chr8	GH08I097846	97846805	97848113	0.63	[{'connected_gene': 'GC08M097844', 'score': 550.77}, {'connected_gene': 'LAPTM4B', 'score': 26.13}, {'connected_gene': 'ENSG00000202399', 'score': 10.62}, {'connected_gene': 'ERICH5', 'score': 9.9}, {'connected_gene': 'MATN2', 'score': 7.5}, {'connected_gene': 'GC08M097854', 'score': 0.44}]
chr8	GH08I097844	97844413	97844562	0.31	[{'connected_gene': 'GC08M097844', 'score': 550.77}, {'connected_gene': 'MATN2', 'score': 18.45}, {'connected_gene': 'RPS23P1', 'score': 11.48}, {'connected_gene': 'ERICH5', 'score': 10.46}, {'connected_gene': 'PIR33604', 'score': 0.34}, {'connected_gene': 'LAPTM4B', 'score': 0.2}]
chr8	GH08I098100	98100253	98100260	0.43	[{'connected_gene': 'GC08P098099', 'score': 550.77}, {'connected_gene': 'ERICH5', 'score': 11.47}, {'connected_gene': 'MATN2', 'score': 10.14}, {'connected_gene': 'RPS23P1', 'score': 10.14}, {'connected_gene': 'RIDA', 'score': 0.37}, {'connected_gene': 'GC08P097993', 'score': 0.14}]
chr8	GH08I098020	98020510	98021522	0.66	[{'connected_gene': 'GC08M098021', 'score': 550.77}, {'connected_gene': 'ERICH5', 'score': 10.99}, {'connected_gene': 'MATN2', 'score': 5.29}, {'connected_gene': 'GC08M098007', 'score': 0.39}, {'connected_gene': 'GC08P097993', 'score': 0.31}, {'connected_gene': 'GC08P097916', 'score': 0.15}]
chr8	GH08I098057	98057193	98057342	0.2	[{'connected_gene': 'GC08P098052', 'score': 0.77}, {'connected_gene': 'ERICH5', 'score': 0.44}, {'connected_gene': 'GC08P097993', 'score': 0.21}, {'connected_gene': 'GC08P097916', 'score': 0.11}]