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
ENST00000356713	[[101088855, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101136811, 101136975], [101147576, 101147760], [101147908, 101148058], [101150062, 101150164], [101151193, 101154087]]	[[101089144, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101136811, 101136975], [101147576, 101147760], [101147908, 101148058], [101150062, 101150164], [101151193, 101151273]]
ENST00000446890	[[101089144, 101089387], [101089537, 101089627], [101089690, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101136811, 101136975], [101147576, 101147760], [101147908, 101148058], [101150062, 101150164], [101151193, 101154085]]	[[101089144, 101089387], [101089537, 101089627], [101089690, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101136811, 101136975], [101147576, 101147760], [101147908, 101148058], [101150062, 101150164], [101151193, 101151273]]
ENST00000370528	[[101089144, 101089387], [101089537, 101089627], [101089690, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101136811, 101136975], [101147576, 101147760], [101150062, 101150164], [101151193, 101154085]]	[[101089144, 101089387], [101089537, 101089627], [101089690, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101136811, 101136975], [101147576, 101147760], [101150062, 101150164], [101151193, 101151273]]
ENST00000370534	[[101089687, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101128374, 101128437], [101136811, 101136975], [101147576, 101147760], [101147908, 101148058], [101150062, 101150164], [101151193, 101151296]]	[[101090239, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101128374, 101128437], [101136811, 101136975], [101147576, 101147760], [101147908, 101148058], [101150062, 101150164], [101151193, 101151273]]
ENST00000488090	[[101128093, 101128437], [101136811, 101137085]]	None
NM_001345888	[[101088855, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101136811, 101136975], [101147576, 101147760], [101150062, 101150164], [101151193, 101154087]]	[[101089144, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101136811, 101136975], [101147576, 101147760], [101150062, 101150164], [101151193, 101151273]]
NR_144311	[[101088855, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101136811, 101136975], [101147576, 101147760], [101147912, 101148058], [101150062, 101150164], [101151193, 101154087]]	None
NM_020348	[[101088855, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101136811, 101136975], [101147576, 101147760], [101147908, 101148058], [101150062, 101150164], [101151193, 101154087]]	[[101089144, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101136811, 101136975], [101147576, 101147760], [101147908, 101148058], [101150062, 101150164], [101151193, 101151273]]
NM_001345889	[[101088855, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101128374, 101128437], [101136811, 101136975], [101147576, 101147760], [101150062, 101150164], [101151193, 101154087]]	[[101089144, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101128374, 101128437], [101136811, 101136975], [101147576, 101147760], [101150062, 101150164], [101151193, 101151273]]
NM_001345887	[[101088855, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101128374, 101128437], [101136811, 101136975], [101147576, 101147760], [101147908, 101148058], [101150062, 101150164], [101151193, 101154087]]	[[101089144, 101090717], [101117268, 101117412], [101120591, 101120732], [101121983, 101122153], [101124173, 101124273], [101124711, 101124759], [101128374, 101128437], [101136811, 101136975], [101147576, 101147760], [101147908, 101148058], [101150062, 101150164], [101151193, 101151273]]

Promoter

Chrom	Start	End	Description
chr10	101088836	101088861	CAGE_peak_2_at_CNNM1_5end
chr10	101089107	101089141	CAGE_peak_1_at_CNNM1_5end
chr10	101119327	101119335	CAGE_peak_6_at_CNNM1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I099342	99342264	99342433	0.2	[{'connected_gene': 'HPSE2', 'score': 7.1}, {'connected_gene': 'CNNM1', 'score': 0.39}, {'connected_gene': 'PIR44588', 'score': 0.39}, {'connected_gene': 'GOT1', 'score': 0.17}]
chr10	GH10I099338	99338744	99339809	0.63	[{'connected_gene': 'HPSE2', 'score': 7.54}, {'connected_gene': 'PIR44588', 'score': 0.44}, {'connected_gene': 'CNNM1', 'score': 0.39}, {'connected_gene': 'GOT1', 'score': 0.16}]
chr10	GH10I099344	99344867	99346513	0.56	[{'connected_gene': 'HPSE2', 'score': 6.92}, {'connected_gene': 'CNNM1', 'score': 5.22}, {'connected_gene': 'PIR44588', 'score': 0.37}, {'connected_gene': 'GOT1', 'score': 0.17}]
chr10	GH10I099231	99231969	99235189	0.88	[{'connected_gene': 'HPSE2', 'score': 8.52}, {'connected_gene': 'CNNM1', 'score': 8.33}, {'connected_gene': 'RPL7P36', 'score': 0.09}]
chr10	GH10I099328	99328843	99330665	1.62	[{'connected_gene': 'CNNM1', 'score': 550.77}, {'connected_gene': 'PIR44588', 'score': 550.77}, {'connected_gene': 'HPSE2', 'score': 16.88}, {'connected_gene': 'CWF19L1', 'score': 11.87}, {'connected_gene': 'SLC25A28', 'score': 10.94}, {'connected_gene': 'HPS1', 'score': 9.8}, {'connected_gene': 'GOT1', 'score': 0.15}]
chr10	GH10I099368	99368284	99369622	0.2	[{'connected_gene': 'CNNM1', 'score': 11.12}, {'connected_gene': 'HPSE2', 'score': 7.46}, {'connected_gene': 'PIR44588', 'score': 0.28}, {'connected_gene': 'GOT1', 'score': 0.21}]
chr10	GH10I099369	99369704	99369853	0.2	[{'connected_gene': 'CNNM1', 'score': 11.11}, {'connected_gene': 'PIR44588', 'score': 0.26}, {'connected_gene': 'GOT1', 'score': 0.21}]
chr10	GH10I099358	99358244	99358413	0.38	[{'connected_gene': 'CNNM1', 'score': 0.31}, {'connected_gene': 'PIR44588', 'score': 0.31}, {'connected_gene': 'GOT1', 'score': 0.19}]
chr10	GH10I099372	99372604	99372853	0.6	[{'connected_gene': 'CNNM1', 'score': 0.26}, {'connected_gene': 'PIR44588', 'score': 0.26}, {'connected_gene': 'GOT1', 'score': 0.22}]
chr10	GH10I099341	99341964	99342113	0.2	[{'connected_gene': 'CNNM1', 'score': 0.39}, {'connected_gene': 'PIR44588', 'score': 0.39}, {'connected_gene': 'GOT1', 'score': 0.17}]
chr10	GH10I099292	99292027	99292624	0.2	[{'connected_gene': 'CNNM1', 'score': 8.44}, {'connected_gene': 'PIR55812', 'score': 0.34}, {'connected_gene': 'GC10P099254', 'score': 0.28}]
chr10	GH10I099394	99394595	99397301	1.12	[{'connected_gene': 'LOC101927300', 'score': 19.64}, {'connected_gene': 'GOT1', 'score': 11.25}, {'connected_gene': 'CNNM1', 'score': 10.64}, {'connected_gene': 'NKX2-3', 'score': 10.1}, {'connected_gene': 'PIR44588', 'score': 0.2}]
chr10	GH10I099391	99391616	99393833	0.9	[{'connected_gene': 'LOC101927300', 'score': 18.47}, {'connected_gene': 'GOT1', 'score': 11.23}, {'connected_gene': 'CNNM1', 'score': 10.65}, {'connected_gene': 'NKX2-3', 'score': 10.24}, {'connected_gene': 'PIR44588', 'score': 0.21}]
chr10	GH10I099115	99115425	99116403	0.54	[{'connected_gene': 'EBAG9P1', 'score': 14.11}, {'connected_gene': 'LOXL4', 'score': 11.33}, {'connected_gene': 'PYROXD2', 'score': 10.34}, {'connected_gene': 'ENSG00000230928', 'score': 10.26}, {'connected_gene': 'HPSE2', 'score': 5.54}, {'connected_gene': 'CNNM1', 'score': 5.41}, {'connected_gene': 'RPL7P36', 'score': 0.2}]
chr10	GH10I099364	99364204	99364353	0.2	[{'connected_gene': 'PIR44588', 'score': 0.29}, {'connected_gene': 'CNNM1', 'score': 0.28}, {'connected_gene': 'GOT1', 'score': 0.2}]