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
ENST00000369489	[[117057156, 117057444], [117061852, 117061889], [117064527, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113661]]	[[117057434, 117057444], [117061852, 117061889], [117064527, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113594]]
ENST00000464088	[[117057360, 117057444], [117061852, 117061924], [117064527, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113606]]	[[117061916, 117061924], [117064527, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113594]]
ENST00000457047	[[117061321, 117061889], [117064527, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113648]]	[[117061848, 117061889], [117064527, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113594]]
ENST00000526981	[[117061852, 117061889], [117064527, 117064605], [117086932, 117087212]]	[[117061852, 117061889], [117064527, 117064605], [117086932, 117087212]]
ENST00000369487	[[117064408, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113661]]	[[117064510, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113594]]
NR_026665	[[117057155, 117057444], [117061852, 117061924], [117064527, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113715]]	None
NM_001779	[[117057155, 117057444], [117061852, 117061889], [117064527, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113715]]	[[117057434, 117057444], [117061852, 117061889], [117064527, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113594]]
NM_001144822	[[117061321, 117061889], [117064527, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113715]]	[[117061848, 117061889], [117064527, 117064605], [117078586, 117078850], [117086932, 117087226], [117113524, 117113594]]

Promoter

Chrom	Start	End	Description
chr1	117113596	117113682	CAGE_peak_1_at_CD58_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I116539	116539918	116540870	1.19	[{'connected_gene': 'CD58', 'score': 25.97}, {'connected_gene': 'CD101', 'score': 6.47}, {'connected_gene': 'ATP1A1', 'score': 4.34}, {'connected_gene': 'LOC105378925', 'score': 0.77}, {'connected_gene': 'NAP1L4P1', 'score': 0.44}]
chr1	GH01I116502	116502296	116506799	1.73	[{'connected_gene': 'CD58', 'score': 20.17}, {'connected_gene': 'CD101', 'score': 6.22}, {'connected_gene': 'ATP1A1', 'score': 5.55}, {'connected_gene': 'ENSG00000224950', 'score': 5.24}, {'connected_gene': 'GC01P116509', 'score': 0.77}]
chr1	GH01I116537	116536281	116539755	1.55	[{'connected_gene': 'CD58', 'score': 28.28}, {'connected_gene': 'NAP1L4P1', 'score': 7.73}, {'connected_gene': 'CD101', 'score': 5.16}, {'connected_gene': 'ATP1A1', 'score': 4.24}, {'connected_gene': 'LOC105378925', 'score': 0.44}]
chr1	GH01I116512	116512787	116517549	1.23	[{'connected_gene': 'CD58', 'score': 11.88}, {'connected_gene': 'NAP1L4P1', 'score': 11.41}, {'connected_gene': 'ENSG00000224950', 'score': 4.63}, {'connected_gene': 'GC01P116509', 'score': 0.44}]
chr1	GH01I116520	116520775	116523434	0.58	[{'connected_gene': 'CD58', 'score': 18.91}, {'connected_gene': 'NAP1L4P1', 'score': 0.39}, {'connected_gene': 'GC01P116509', 'score': 0.39}]
chr1	GH01I116531	116531887	116532313	0.57	[{'connected_gene': 'CD58', 'score': 16.88}, {'connected_gene': 'NAP1L4P1', 'score': 0.77}, {'connected_gene': 'GC01P116509', 'score': 0.34}]
chr1	GH01I116488	116488008	116491360	1.56	[{'connected_gene': 'CD58', 'score': 17.64}, {'connected_gene': 'ATP1A1', 'score': 13.91}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.5}, {'connected_gene': 'ENSG00000224950', 'score': 5.5}, {'connected_gene': 'LINC01762', 'score': 0.39}]
chr1	GH01I116491	116491933	116499401	1.65	[{'connected_gene': 'CD58', 'score': 27.49}, {'connected_gene': 'ATP1A1', 'score': 15.96}, {'connected_gene': 'ENSG00000224950', 'score': 12.42}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.85}, {'connected_gene': 'LINC01762', 'score': 0.37}]
chr1	GH01I116594	116594910	116599192	1.02	[{'connected_gene': 'CD58', 'score': 11.92}, {'connected_gene': 'IGSF3', 'score': 11.08}, {'connected_gene': 'MIR320B1', 'score': 11.08}, {'connected_gene': 'C1orf137', 'score': 10.36}, {'connected_gene': 'LOC105378924', 'score': 0.44}]
chr1	GH01I116569	116569182	116572275	2.54	[{'connected_gene': 'CD58', 'score': 559.08}, {'connected_gene': 'MAN1A2', 'score': 11.52}, {'connected_gene': 'TRIM45', 'score': 9.93}, {'connected_gene': 'ATP1A1-AS1', 'score': 5.58}, {'connected_gene': 'ATP1A1', 'score': 4.84}, {'connected_gene': 'IGSF3', 'score': 4.41}, {'connected_gene': 'CD101', 'score': 3.64}, {'connected_gene': 'TTF2', 'score': 1.71}, {'connected_gene': 'MIR548AC', 'score': 0.39}]
chr1	GH01I116605	116605601	116607000	0.2	[{'connected_gene': 'CD58', 'score': 10.83}, {'connected_gene': 'LOC105378924', 'score': 0.39}, {'connected_gene': 'IGSF3', 'score': 0.21}]
chr1	GH01I116567	116567601	116567800	0.4	[{'connected_gene': 'CD58', 'score': 0.77}, {'connected_gene': 'MIR548AC', 'score': 0.44}]
chr1	GH01I116986	116986405	116992086	1.42	[{'connected_gene': 'CD101', 'score': 18.75}, {'connected_gene': 'PTGFRN', 'score': 8.79}, {'connected_gene': 'CD58', 'score': 5.79}, {'connected_gene': 'RNA5SP55', 'score': 0.31}]
chr1	GH01I116417	116417384	116419618	1.78	[{'connected_gene': 'ATP1A1-AS1', 'score': 550.77}, {'connected_gene': 'CD58', 'score': 10.05}, {'connected_gene': 'RNU6-817P', 'score': 0.77}, {'connected_gene': 'GC01M116414', 'score': 0.77}]
chr1	GH01I116573	116573910	116574435	0.6	[{'connected_gene': 'ATP1A1-AS1', 'score': 11.03}, {'connected_gene': 'IGSF3', 'score': 11.03}, {'connected_gene': 'MIR320B1', 'score': 11.02}, {'connected_gene': 'CD58', 'score': 0.77}, {'connected_gene': 'LOC105378924', 'score': 0.37}]
chr1	GH01I116092	116092677	116093619	0.52	[{'connected_gene': 'ATP1A1-AS1', 'score': 10.28}, {'connected_gene': 'MAB21L3', 'score': 5.29}, {'connected_gene': 'CD58', 'score': 4.99}, {'connected_gene': 'SLC22A15', 'score': 4.67}, {'connected_gene': 'GC01M116040', 'score': 0.44}]
chr1	GH01I115641	115641201	115643570	2.26	[{'connected_gene': 'VANGL1', 'score': 574.79}, {'connected_gene': 'ATP1A1-AS1', 'score': 31.21}, {'connected_gene': 'SIKE1', 'score': 30.32}, {'connected_gene': 'ENSG00000207502', 'score': 11.45}, {'connected_gene': 'CD58', 'score': 9.97}, {'connected_gene': 'CASQ2', 'score': 0.13}]
chr1	GH01I116536	116536000	116536068	0.43	[{'connected_gene': 'NAP1L4P1', 'score': 550.77}, {'connected_gene': 'CD58', 'score': 11.19}, {'connected_gene': 'LOC105378925', 'score': 0.44}]
chr1	GH01I116533	116533837	116534879	0.43	[{'connected_gene': 'NAP1L4P1', 'score': 550.77}, {'connected_gene': 'CD58', 'score': 18.68}, {'connected_gene': 'LOC105378925', 'score': 0.39}]
chr1	GH01I116532	116532704	116533490	0.51	[{'connected_gene': 'NAP1L4P1', 'score': 560.33}, {'connected_gene': 'CD58', 'score': 11.19}, {'connected_gene': 'GC01P116509', 'score': 0.34}]
chr1	GH01I116371	116371905	116381809	2.59	[{'connected_gene': 'ATP1A1', 'score': 556.73}, {'connected_gene': 'ATP1A1-AS1', 'score': 17.46}, {'connected_gene': 'CD58', 'score': 9.98}, {'connected_gene': 'TRIM45', 'score': 9.92}, {'connected_gene': 'NAP1L4P1', 'score': 4.21}, {'connected_gene': 'SLC22A15', 'score': 2.19}, {'connected_gene': 'GC01P116389', 'score': 0.39}, {'connected_gene': 'GC01P116388', 'score': 0.39}]
chr1	GH01I116553	116553231	116554477	1.03	[{'connected_gene': 'ATP1A1', 'score': 10.29}, {'connected_gene': 'IGSF3', 'score': 9.5}, {'connected_gene': 'MIR320B1', 'score': 9.49}, {'connected_gene': 'GC01P116556', 'score': 0.77}, {'connected_gene': 'LOC105378925', 'score': 0.44}, {'connected_gene': 'CD58', 'score': 0.37}]
chr1	GH01I116551	116551279	116551968	0.43	[{'connected_gene': 'ATP1A1', 'score': 9.97}, {'connected_gene': 'GC01P116556', 'score': 0.77}, {'connected_gene': 'LOC105378925', 'score': 0.44}, {'connected_gene': 'CD58', 'score': 0.37}]
chr1	GH01I116657	116657942	116659051	0.38	[{'connected_gene': 'IGSF3', 'score': 15.64}, {'connected_gene': 'CD58', 'score': 10.9}, {'connected_gene': 'C1orf137', 'score': 10.88}, {'connected_gene': 'LOC105378924', 'score': 0.2}]
chr1	GH01I116686	116686271	116688476	1.23	[{'connected_gene': 'IGSF3', 'score': 12.22}, {'connected_gene': 'MAN1A2', 'score': 11.38}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.49}, {'connected_gene': 'CD58', 'score': 10.07}, {'connected_gene': 'C1orf137', 'score': 0.44}, {'connected_gene': 'MIR320B1', 'score': 0.37}]
chr1	GH01I116587	116587801	116588400	0.79	[{'connected_gene': 'IGSF3', 'score': 10.88}, {'connected_gene': 'MIR320B1', 'score': 10.88}, {'connected_gene': 'CD58', 'score': 9.91}, {'connected_gene': 'CD101', 'score': 5.92}, {'connected_gene': 'ATP1A1', 'score': 4.43}, {'connected_gene': 'LOC105378924', 'score': 0.77}]
chr1	GH01I116586	116586803	116587108	0.89	[{'connected_gene': 'IGSF3', 'score': 10.88}, {'connected_gene': 'MIR320B1', 'score': 10.88}, {'connected_gene': 'CD58', 'score': 4.67}, {'connected_gene': 'TTF2', 'score': 1.97}, {'connected_gene': 'LOC105378924', 'score': 0.77}]
chr1	GH01I116574	116574719	116574888	0.73	[{'connected_gene': 'IGSF3', 'score': 11.03}, {'connected_gene': 'MIR320B1', 'score': 11.02}, {'connected_gene': 'CD58', 'score': 0.77}, {'connected_gene': 'LOC105378924', 'score': 0.37}]
chr1	GH01I116565	116565984	116566920	0.38	[{'connected_gene': 'IGSF3', 'score': 9.9}, {'connected_gene': 'MIR320B1', 'score': 9.29}, {'connected_gene': 'CD58', 'score': 0.77}, {'connected_gene': 'MIR548AC', 'score': 0.44}]
chr1	GH01I116562	116562341	116562671	0.66	[{'connected_gene': 'IGSF3', 'score': 9.9}, {'connected_gene': 'MIR320B1', 'score': 9.29}, {'connected_gene': 'MIR548AC', 'score': 0.77}, {'connected_gene': 'CD58', 'score': 0.44}]
chr1	GH01I116147	116147814	116148623	0.2	[{'connected_gene': 'MAB21L3', 'score': 5.56}, {'connected_gene': 'CD58', 'score': 4.96}, {'connected_gene': 'SLC22A15', 'score': 4.51}, {'connected_gene': 'LINC01779', 'score': 0.37}, {'connected_gene': 'LOC105378918', 'score': 0.34}]
chr1	GH01I117339	117339368	117340803	1.22	[{'connected_gene': 'MAN1A2', 'score': 12.11}, {'connected_gene': 'ENSG00000271427', 'score': 11.29}, {'connected_gene': 'TRIM45', 'score': 10.09}, {'connected_gene': 'CD58', 'score': 9.97}, {'connected_gene': 'GC01M117313', 'score': 0.37}, {'connected_gene': 'LINC01525', 'score': 0.26}]
chr1	GH01I116544	116544572	116545720	0.97	[{'connected_gene': 'LOC105378925', 'score': 550.77}, {'connected_gene': 'CD58', 'score': 19.98}, {'connected_gene': 'GC01P116556', 'score': 0.39}]
chr1	GH01I116588	116588808	116591001	1.2	[{'connected_gene': 'LOC105378924', 'score': 550.77}, {'connected_gene': 'IGSF3', 'score': 10.88}, {'connected_gene': 'MIR320B1', 'score': 10.88}, {'connected_gene': 'CD58', 'score': 7.08}, {'connected_gene': 'ATP1A1', 'score': 3.26}, {'connected_gene': 'CD101', 'score': 2.69}]
chr1	GH01I116507	116507844	116511199	1.6	[{'connected_gene': 'GC01P116509', 'score': 550.77}, {'connected_gene': 'CD58', 'score': 22.77}, {'connected_gene': 'CD101', 'score': 6.72}, {'connected_gene': 'ATP1A1', 'score': 4.36}, {'connected_gene': 'NAP1L4P1', 'score': 0.34}]
chr1	GH01I116504	116500560	116500695	0.2	[{'connected_gene': 'ENSG00000224950', 'score': 550.77}, {'connected_gene': 'CD58', 'score': 5.76}, {'connected_gene': 'GC01P116509', 'score': 0.44}]
chr1	GH01I117050	117050820	117052623	0.87	[{'connected_gene': 'PIR49222', 'score': 550.77}, {'connected_gene': 'CD101', 'score': 10.55}, {'connected_gene': 'CD2', 'score': 10.49}, {'connected_gene': 'CD58', 'score': 10.15}, {'connected_gene': 'TRIM45', 'score': 9.96}, {'connected_gene': 'C1orf137', 'score': 9.62}, {'connected_gene': 'LOC101929099', 'score': 0.44}]
chr1	GH01I116109	116109553	116112995	1.6	[{'connected_gene': 'GC01P116110', 'score': 550.77}, {'connected_gene': 'MAB21L3', 'score': 550.28}, {'connected_gene': 'CD58', 'score': 5.15}, {'connected_gene': 'IGSF3', 'score': 4.77}, {'connected_gene': 'LOC105378918', 'score': 0.39}]
chr1	GH01I116555	116555002	116561307	1.71	[{'connected_gene': 'GC01P116556', 'score': 550.77}, {'connected_gene': 'MIR548AC', 'score': 550.77}, {'connected_gene': 'CD58', 'score': 14.84}, {'connected_gene': 'ATP1A1', 'score': 14.54}, {'connected_gene': 'CD2', 'score': 11.08}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.34}, {'connected_gene': 'CD101', 'score': 3.68}]