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
ENST00000483923	[[100143321, 100143625], [100144703, 100144824], [100146957, 100147064], [100150354, 100150511], [100150627, 100150839], [100152188, 100152323], [100152698, 100152840], [100154952, 100155050], [100155147, 100155209], [100157101, 100157255], [100159858, 100160014], [100167338, 100167412], [100167660, 100167754], [100170369, 100170715], [100170931, 100171634]]	None
ENST00000370575	[[100143321, 100143625], [100144703, 100144824], [100146957, 100147064], [100148110, 100148265], [100150354, 100150511], [100150766, 100150839], [100152188, 100152323], [100152698, 100152840], [100154952, 100155050], [100155147, 100155209], [100157101, 100157255], [100159858, 100160014], [100167338, 100167412], [100167660, 100167754], [100170695, 100170715], [100174765, 100174941]]	[[100143554, 100143625], [100144703, 100144824], [100146957, 100147064], [100148110, 100148265], [100150354, 100150511], [100150766, 100150839], [100152188, 100152323], [100152698, 100152840], [100154952, 100155050], [100155147, 100155209], [100157101, 100157255], [100159858, 100160014], [100167338, 100167412], [100167660, 100167754], [100170695, 100170715], [100174765, 100174892]]
ENST00000464808	[[100146957, 100147064], [100147621, 100147841], [100148110, 100148193]]	None
ENST00000494941	[[100173704, 100174052], [100174488, 100174591], [100174765, 100174815]]	None
ENST00000462874	[[100173923, 100174052], [100174765, 100174915]]	None
NM_032709	[[100143321, 100143625], [100144703, 100144824], [100146957, 100147064], [100148110, 100148265], [100150354, 100150511], [100150766, 100150839], [100152188, 100152323], [100152698, 100152840], [100154952, 100155050], [100155147, 100155209], [100157101, 100157255], [100159858, 100160014], [100167338, 100167412], [100167660, 100167754], [100170695, 100170715], [100174765, 100174978]]	[[100143554, 100143625], [100144703, 100144824], [100146957, 100147064], [100148110, 100148265], [100150354, 100150511], [100150766, 100150839], [100152188, 100152323], [100152698, 100152840], [100154952, 100155050], [100155147, 100155209], [100157101, 100157255], [100159858, 100160014], [100167338, 100167412], [100167660, 100167754], [100170695, 100170715], [100174765, 100174892]]

Promoter

Chrom	Start	End	Description
chr10	100174900	100174956	CAGE_peak_1_at_PYROXD2_5end
chr10	100174957	100174982	CAGE_peak_2_at_PYROXD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I098462	98462449	98462577	0.43	[{'connected_gene': 'PYROXD2', 'score': 10.0}, {'connected_gene': 'LOXL4', 'score': 9.49}, {'connected_gene': 'PIR35546', 'score': 0.77}, {'connected_gene': 'GC10M098426', 'score': 0.39}, {'connected_gene': 'HPSE2', 'score': 0.03}]
chr10	GH10I098348	98348925	98350400	0.63	[{'connected_gene': 'PYROXD2', 'score': 9.43}, {'connected_gene': 'LOXL4', 'score': 9.0}, {'connected_gene': 'LOC105378449', 'score': 0.39}, {'connected_gene': 'GC10M098326', 'score': 0.34}]
chr10	GH10I098373	98373491	98375584	0.74	[{'connected_gene': 'PYROXD2', 'score': 63.37}, {'connected_gene': 'LOXL4', 'score': 18.14}, {'connected_gene': 'MIR1287', 'score': 13.08}, {'connected_gene': 'LOC105378449', 'score': 0.39}]
chr10	GH10I098382	98382493	98384225	0.46	[{'connected_gene': 'PYROXD2', 'score': 73.85}, {'connected_gene': 'LOXL4', 'score': 19.15}, {'connected_gene': 'MIR1287', 'score': 0.39}, {'connected_gene': 'LOC105378449', 'score': 0.34}]
chr10	GH10I098390	98390930	98392473	0.76	[{'connected_gene': 'PYROXD2', 'score': 63.58}, {'connected_gene': 'LOXL4', 'score': 6.4}, {'connected_gene': 'MIR1287', 'score': 0.77}, {'connected_gene': 'LOC105378449', 'score': 0.29}]
chr10	GH10I098778	98778364	98778513	0.92	[{'connected_gene': 'PYROXD2', 'score': 9.78}, {'connected_gene': 'GC10M098784', 'score': 0.37}, {'connected_gene': 'GC10P098625', 'score': 0.1}, {'connected_gene': 'HPSE2', 'score': 0.05}]
chr10	GH10I098456	98456428	98456638	0.31	[{'connected_gene': 'PYROXD2', 'score': 10.43}, {'connected_gene': 'HPS1', 'score': 8.97}, {'connected_gene': 'PIR35546', 'score': 0.77}, {'connected_gene': 'GC10P098452', 'score': 0.77}, {'connected_gene': 'GC10M098426', 'score': 0.37}]
chr10	GH10I098344	98344386	98345335	0.46	[{'connected_gene': 'PYROXD2', 'score': 15.4}, {'connected_gene': 'GC10M098326', 'score': 0.37}, {'connected_gene': 'LOC105378449', 'score': 0.37}]
chr10	GH10I098414	98414208	98416184	1.93	[{'connected_gene': 'PYROXD2', 'score': 620.42}, {'connected_gene': 'GC10P098412', 'score': 0.77}]
chr10	GH10I098331	98331984	98332133	0.49	[{'connected_gene': 'LOXL4', 'score': 11.21}, {'connected_gene': 'PYROXD2', 'score': 5.89}, {'connected_gene': 'GC10M098326', 'score': 0.77}, {'connected_gene': 'LOC105378449', 'score': 0.31}]
chr10	GH10I098380	98380378	98381267	0.62	[{'connected_gene': 'LOXL4', 'score': 17.2}, {'connected_gene': 'PYROXD2', 'score': 6.4}, {'connected_gene': 'MIR1287', 'score': 0.39}, {'connected_gene': 'LOC105378449', 'score': 0.37}]
chr10	GH10I098295	98295601	98296327	0.38	[{'connected_gene': 'LOXL4', 'score': 11.88}, {'connected_gene': 'PYROXD2', 'score': 9.75}, {'connected_gene': 'GC10P098268', 'score': 0.31}, {'connected_gene': 'GC10M098326', 'score': 0.29}]
chr10	GH10I098466	98466735	98468400	1.16	[{'connected_gene': 'HPS1', 'score': 17.74}, {'connected_gene': 'PYROXD2', 'score': 10.44}, {'connected_gene': 'HPSE2', 'score': 4.45}, {'connected_gene': 'PIR35546', 'score': 0.44}, {'connected_gene': 'GC10M098426', 'score': 0.44}]
chr10	GH10I098469	98469664	98469773	0.31	[{'connected_gene': 'HPS1', 'score': 11.75}, {'connected_gene': 'PYROXD2', 'score': 10.44}, {'connected_gene': 'GC10M098426', 'score': 0.44}, {'connected_gene': 'PIR35546', 'score': 0.39}, {'connected_gene': 'HPSE2', 'score': 0.02}]
chr10	GH10I098322	98322516	98324389	1.34	[{'connected_gene': 'HPS1', 'score': 10.71}, {'connected_gene': 'LOXL4', 'score': 10.64}, {'connected_gene': 'ENSG00000230928', 'score': 10.55}, {'connected_gene': 'PYROXD2', 'score': 4.87}, {'connected_gene': 'R3HCC1L', 'score': 3.36}, {'connected_gene': 'GC10M098326', 'score': 0.77}, {'connected_gene': 'GC10P098268', 'score': 0.23}]
chr10	GH10I098444	98444793	98447589	2	[{'connected_gene': 'HPS1', 'score': 557.42}, {'connected_gene': 'LOC101927278', 'score': 550.77}, {'connected_gene': 'PYROXD2', 'score': 15.07}, {'connected_gene': 'LOXL4', 'score': 11.4}, {'connected_gene': 'ENSG00000230928', 'score': 10.32}, {'connected_gene': 'MIR4685', 'score': 0.39}, {'connected_gene': 'GC10M098426', 'score': 0.31}]
chr10	GH10I098360	98360590	98362195	1.31	[{'connected_gene': 'LOC105378449', 'score': 550.77}, {'connected_gene': 'PYROXD2', 'score': 13.79}, {'connected_gene': 'LOXL4', 'score': 6.25}, {'connected_gene': 'MIR1287', 'score': 0.29}]
chr10	GH10I098425	98425824	98425973	0.59	[{'connected_gene': 'MIR4685', 'score': 0.44}, {'connected_gene': 'PYROXD2', 'score': 0.39}, {'connected_gene': 'HPS1', 'score': 0.34}, {'connected_gene': 'GC10M098426', 'score': 0.25}]
chr10	GH10I098423	98423744	98423893	0.49	[{'connected_gene': 'MIR4685', 'score': 0.44}, {'connected_gene': 'PYROXD2', 'score': 0.44}, {'connected_gene': 'HPS1', 'score': 0.34}]
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	GH10I098394	98394077	98395208	0.52	[{'connected_gene': 'MIR1287', 'score': 550.77}, {'connected_gene': 'PYROXD2', 'score': 38.96}, {'connected_gene': 'LOXL4', 'score': 6.78}, {'connected_gene': 'LOC105378449', 'score': 0.29}]
chr10	GH10I098403	98403211	98405933	0.89	[{'connected_gene': 'GC10P098406', 'score': 550.77}, {'connected_gene': 'PYROXD2', 'score': 60.56}, {'connected_gene': 'LOXL4', 'score': 15.74}, {'connected_gene': 'HPS1', 'score': 5.23}, {'connected_gene': 'MIR1287', 'score': 0.44}]
chr10	GH10I098410	98410765	98412944	0.31	[{'connected_gene': 'GC10P098412', 'score': 550.77}, {'connected_gene': 'PYROXD2', 'score': 70.42}, {'connected_gene': 'LOXL4', 'score': 6.2}, {'connected_gene': 'GC10P098406', 'score': 0.44}]
chr10	GH10I098457	98457944	98457953	0.56	[{'connected_gene': 'PIR35546', 'score': 550.77}, {'connected_gene': 'PYROXD2', 'score': 10.43}, {'connected_gene': 'GC10P098452', 'score': 0.44}, {'connected_gene': 'GC10M098426', 'score': 0.37}, {'connected_gene': 'HPSE2', 'score': 0.03}]
chr10	GH10I097421	97421964	97424752	1.08	[{'connected_gene': 'PIR45391', 'score': 550.77}, {'connected_gene': 'GC10M097425', 'score': 550.77}, {'connected_gene': 'MMS19', 'score': 86.49}, {'connected_gene': 'LCOR', 'score': 60.04}, {'connected_gene': 'EXOSC1', 'score': 59.38}, {'connected_gene': 'R3HCC1L', 'score': 45.44}, {'connected_gene': 'NPM1P26', 'score': 31.97}, {'connected_gene': 'TM9SF3', 'score': 23.05}, {'connected_gene': 'RPL13AP5', 'score': 21.76}, {'connected_gene': 'MARVELD1', 'score': 21.58}, {'connected_gene': 'LOXL4', 'score': 20.47}, {'connected_gene': 'ZDHHC16', 'score': 18.47}, {'connected_gene': 'MORN4', 'score': 14.48}, {'connected_gene': 'PYROXD2', 'score': 10.11}, {'connected_gene': 'ENSG00000230928', 'score': 9.74}, {'connected_gene': 'SLIT1', 'score': 7.76}, {'connected_gene': 'RRP12', 'score': 0.77}, {'connected_gene': 'GC10M097416', 'score': 0.77}, {'connected_gene': 'LOC644215', 'score': 0.77}]
chr10	GH10I097839	97839574	97841104	1.36	[{'connected_gene': 'PIR33458', 'score': 550.77}, {'connected_gene': 'CRTAC1', 'score': 10.33}, {'connected_gene': 'PYROXD2', 'score': 9.76}, {'connected_gene': 'GOLGA7B', 'score': 6.6}, {'connected_gene': 'LINC00866', 'score': 0.44}, {'connected_gene': 'SFRP5', 'score': 0.2}]
chr10	GH10I098459	98459680	98462104	1.45	[{'connected_gene': 'PIR35546', 'score': 550.77}, {'connected_gene': 'HPS1', 'score': 15.07}, {'connected_gene': 'PYROXD2', 'score': 10.56}, {'connected_gene': 'LOXL4', 'score': 10.05}, {'connected_gene': 'HPSE2', 'score': 4.81}, {'connected_gene': 'GC10M098426', 'score': 0.39}]