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
ENST00000541730	[[20100934, 20102643], [20109828, 20109980], [20113106, 20113239], [20115518, 20115583], [20118667, 20118771], [20124638, 20124831], [20126747, 20126931], [20128929, 20128984], [20144450, 20144546], [20151415, 20151493], [20152854, 20153000], [20212366, 20212670]]	[[20102516, 20102643], [20109828, 20109980], [20113106, 20113239], [20115518, 20115583], [20118667, 20118771], [20124638, 20124831], [20126747, 20126931], [20128929, 20128984], [20144450, 20144478]]
ENST00000324607	[[20102375, 20102643], [20109828, 20109980], [20113106, 20113239], [20115518, 20115583], [20118667, 20118771], [20124638, 20124831], [20126747, 20126931], [20128929, 20128984], [20131374, 20131430], [20144450, 20144546], [20151415, 20151493], [20152854, 20153000], [20212366, 20212630]]	[[20102516, 20102643], [20109828, 20109980], [20113106, 20113239], [20115518, 20115583], [20118667, 20118771], [20124638, 20124831], [20126747, 20126931], [20128929, 20128984], [20131374, 20131430], [20144450, 20144546], [20151415, 20151493], [20152854, 20153000], [20212366, 20212465]]
ENST00000536798	[[20126124, 20126136], [20126747, 20126931], [20128929, 20128984], [20131374, 20131430], [20144450, 20144546], [20151415, 20151493], [20152854, 20153000], [20212366, 20212670]]	[[20126124, 20126136], [20126747, 20126931], [20128929, 20128984], [20131374, 20131430], [20144450, 20144546], [20151415, 20151493], [20152854, 20153000], [20212366, 20212465]]
NM_001080480	[[20099914, 20102643], [20109828, 20109980], [20113106, 20113239], [20115518, 20115583], [20118667, 20118771], [20124638, 20124831], [20126747, 20126931], [20128929, 20128984], [20131374, 20131430], [20144450, 20144546], [20151415, 20151493], [20152854, 20153000], [20212366, 20212695]]	[[20102516, 20102643], [20109828, 20109980], [20113106, 20113239], [20115518, 20115583], [20118667, 20118771], [20124638, 20124831], [20126747, 20126931], [20128929, 20128984], [20131374, 20131430], [20144450, 20144546], [20151415, 20151493], [20152854, 20153000], [20212366, 20212465]]
NR_073465	[[20099914, 20102643], [20109828, 20109980], [20113106, 20113239], [20115518, 20115583], [20118667, 20118771], [20124638, 20124831], [20126747, 20126931], [20128929, 20128984], [20144450, 20144546], [20212366, 20212695]]	None

Promoter

Chrom	Start	End	Description
chr6	20212635	20212726	CAGE_peak_1_at_MBOAT1_5end
chr6	20212869	20212886	CAGE_peak_2_at_MBOAT1_5end
chr6	20212904	20212920	CAGE_peak_5_at_MBOAT1_5end
chr6	20212969	20212985	CAGE_peak_6_at_MBOAT1_5end
chr6	20213001	20213014	CAGE_peak_4_at_MBOAT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I020272	20272590	20272739	0.77	[{'connected_gene': 'CDKAL1', 'score': 14.35}, {'connected_gene': 'MBOAT1', 'score': 0.21}, {'connected_gene': 'LOC101928573', 'score': 0.21}, {'connected_gene': 'E2F3', 'score': 0.13}]
chr6	GH06I020400	20400370	20406352	2.64	[{'connected_gene': 'E2F3', 'score': 550.77}, {'connected_gene': 'CDKAL1', 'score': 65.6}, {'connected_gene': 'MBOAT1', 'score': 1.97}, {'connected_gene': 'RN7SL128P', 'score': 0.37}]
chr6	GH06I020483	20483601	20484844	0.78	[{'connected_gene': 'E2F3', 'score': 12.49}, {'connected_gene': 'MBOAT1', 'score': 10.45}, {'connected_gene': 'LOC101928573', 'score': 10.45}, {'connected_gene': 'GC06M020495', 'score': 0.39}, {'connected_gene': 'RNU6-141P', 'score': 0.29}]
chr6	GH06I020313	20313646	20316341	0.71	[{'connected_gene': 'E2F3', 'score': 11.5}, {'connected_gene': 'MBOAT1', 'score': 10.92}, {'connected_gene': 'LOC101928573', 'score': 10.92}]
chr6	GH06I020239	20239478	20239811	0.33	[{'connected_gene': 'E2F3', 'score': 2.87}, {'connected_gene': 'MBOAT1', 'score': 0.31}, {'connected_gene': 'LOC101928573', 'score': 0.31}]
chr6	GH06I020341	20341127	20341739	0.2	[{'connected_gene': 'E2F3', 'score': 0.21}, {'connected_gene': 'MBOAT1', 'score': 0.13}]
chr6	GH06I020336	20336001	20336200	0.52	[{'connected_gene': 'E2F3', 'score': 0.2}, {'connected_gene': 'MBOAT1', 'score': 0.13}]
chr6	GH06I020347	20347865	20350462	0.46	[{'connected_gene': 'E2F3', 'score': 0.23}, {'connected_gene': 'MBOAT1', 'score': 0.12}]
chr6	GH06I020364	20364748	20368711	0.83	[{'connected_gene': 'E2F3', 'score': 0.28}, {'connected_gene': 'MBOAT1', 'score': 0.1}]
chr6	GH06I020377	20377536	20380272	0.76	[{'connected_gene': 'E2F3', 'score': 0.34}, {'connected_gene': 'MBOAT1', 'score': 0.1}]
chr6	GH06I020319	20319149	20320871	1.04	[{'connected_gene': 'E2F3', 'score': 0.18}, {'connected_gene': 'MBOAT1', 'score': 0.14}]
chr6	GH06I020200	20200469	20213991	2.71	[{'connected_gene': 'MBOAT1', 'score': 561.72}, {'connected_gene': 'CDKAL1', 'score': 37.4}, {'connected_gene': 'LOC101928573', 'score': 0.77}, {'connected_gene': 'LOC105374965', 'score': 0.12}]
chr6	GH06I020325	20325721	20326859	0.75	[{'connected_gene': 'MBOAT1', 'score': 1.97}, {'connected_gene': 'E2F3', 'score': 0.18}]
chr6	GH06I020443	20443839	20446627	1.52	[{'connected_gene': 'MBOAT1', 'score': 1.48}, {'connected_gene': 'RNU6-141P', 'score': 0.44}, {'connected_gene': 'E2F3-IT1', 'score': 0.44}, {'connected_gene': 'E2F3', 'score': 0.26}]
chr6	GH06I020292	20291973	20292774	0.92	[{'connected_gene': 'MBOAT1', 'score': 0.18}, {'connected_gene': 'LOC101928573', 'score': 0.18}, {'connected_gene': 'E2F3', 'score': 0.14}]
chr6	GH06I020256	20256401	20256974	0.31	[{'connected_gene': 'MBOAT1', 'score': 11.9}, {'connected_gene': 'LOC101928573', 'score': 11.9}, {'connected_gene': 'E2F3', 'score': 0.11}]
chr6	GH06I020217	20217001	20217759	1.08	[{'connected_gene': 'MBOAT1', 'score': 7.24}, {'connected_gene': 'LOC101928573', 'score': 0.44}, {'connected_gene': 'E2F3', 'score': 0.09}]
chr6	GH06I020266	20266750	20267834	0.72	[{'connected_gene': 'MBOAT1', 'score': 11.01}, {'connected_gene': 'LOC101928573', 'score': 11.0}, {'connected_gene': 'E2F3', 'score': 0.12}]
chr6	GH06I020274	20274095	20274939	0.2	[{'connected_gene': 'MBOAT1', 'score': 0.21}, {'connected_gene': 'LOC101928573', 'score': 0.21}, {'connected_gene': 'E2F3', 'score': 0.13}]
chr6	GH06I020238	20238774	20238849	0.24	[{'connected_gene': 'MBOAT1', 'score': 0.31}, {'connected_gene': 'LOC101928573', 'score': 0.31}, {'connected_gene': 'E2F3', 'score': 0.1}]
chr6	GH06I020236	20236163	20238760	0.43	[{'connected_gene': 'MBOAT1', 'score': 13.17}, {'connected_gene': 'LOC101928573', 'score': 13.14}, {'connected_gene': 'E2F3', 'score': 0.1}]
chr6	GH06I020291	20291770	20291959	0.92	[{'connected_gene': 'MBOAT1', 'score': 0.18}, {'connected_gene': 'LOC101928573', 'score': 0.18}, {'connected_gene': 'E2F3', 'score': 0.14}]
chr6	GH06I020244	20244632	20247275	0.57	[{'connected_gene': 'MBOAT1', 'score': 0.29}, {'connected_gene': 'LOC101928573', 'score': 0.29}, {'connected_gene': 'E2F3', 'score': 0.1}]
chr6	GH06I020168	20168602	20170799	0.92	[{'connected_gene': 'MBOAT1', 'score': 8.39}, {'connected_gene': 'LOC101928573', 'score': 0.26}, {'connected_gene': 'LOC105374965', 'score': 0.15}]
chr6	GH06I020192	20192378	20193008	0.63	[{'connected_gene': 'MBOAT1', 'score': 0.37}, {'connected_gene': 'LOC101928573', 'score': 0.37}, {'connected_gene': 'LOC105374965', 'score': 0.13}]
chr6	GH06I020176	20176768	20178686	0.43	[{'connected_gene': 'MBOAT1', 'score': 6.1}, {'connected_gene': 'LOC101928573', 'score': 0.29}, {'connected_gene': 'LOC105374965', 'score': 0.15}]
chr6	GH06I020188	20188269	20189513	0.69	[{'connected_gene': 'MBOAT1', 'score': 12.41}, {'connected_gene': 'LOC101928573', 'score': 12.41}, {'connected_gene': 'LOC105374965', 'score': 0.14}]
chr6	GH06I020152	20152925	20154139	0.86	[{'connected_gene': 'MBOAT1', 'score': 11.21}, {'connected_gene': 'LOC101928573', 'score': 11.21}, {'connected_gene': 'LOC105374965', 'score': 0.18}]
chr6	GH06I020160	20160310	20160459	0.2	[{'connected_gene': 'MBOAT1', 'score': 0.23}, {'connected_gene': 'LOC101928573', 'score': 0.23}, {'connected_gene': 'LOC105374965', 'score': 0.17}]
chr6	GH06I020197	20197126	20197820	0.63	[{'connected_gene': 'MBOAT1', 'score': 5.9}, {'connected_gene': 'LOC101928573', 'score': 0.39}, {'connected_gene': 'LOC105374965', 'score': 0.13}]
chr6	GH06I020129	20129797	20130459	0.74	[{'connected_gene': 'MBOAT1', 'score': 18.87}, {'connected_gene': 'LOC101928573', 'score': 10.83}, {'connected_gene': 'LOC105374965', 'score': 0.22}]
chr6	GH06I020126	20126502	20127546	1.05	[{'connected_gene': 'MBOAT1', 'score': 19.33}, {'connected_gene': 'LOC101928573', 'score': 11.6}, {'connected_gene': 'LOC105374965', 'score': 0.23}]
chr6	GH06I020154	20154558	20155382	0.31	[{'connected_gene': 'MBOAT1', 'score': 11.21}, {'connected_gene': 'LOC101928573', 'score': 11.21}, {'connected_gene': 'LOC105374965', 'score': 0.18}]
chr6	GH06I020194	20194857	20195388	0.2	[{'connected_gene': 'MBOAT1', 'score': 0.37}, {'connected_gene': 'LOC101928573', 'score': 0.37}, {'connected_gene': 'LOC105374965', 'score': 0.13}]
chr6	GH06I020182	20182545	20183447	1.1	[{'connected_gene': 'MBOAT1', 'score': 11.29}, {'connected_gene': 'LOC101928573', 'score': 11.29}, {'connected_gene': 'LOC105374965', 'score': 0.14}]
chr6	GH06I020184	20184027	20184715	0.2	[{'connected_gene': 'MBOAT1', 'score': 11.29}, {'connected_gene': 'LOC101928573', 'score': 11.29}, {'connected_gene': 'LOC105374965', 'score': 0.14}]
chr6	GH06I020190	20190500	20191783	0.2	[{'connected_gene': 'MBOAT1', 'score': 12.41}, {'connected_gene': 'LOC101928573', 'score': 12.41}, {'connected_gene': 'LOC105374965', 'score': 0.13}]
chr6	GH06I020130	20130509	20131572	0.83	[{'connected_gene': 'MBOAT1', 'score': 19.4}, {'connected_gene': 'LOC101928573', 'score': 10.83}, {'connected_gene': 'LOC105374965', 'score': 0.22}]
chr6	GH06I020175	20175743	20176611	0.2	[{'connected_gene': 'MBOAT1', 'score': 8.03}, {'connected_gene': 'LOC101928573', 'score': 0.28}, {'connected_gene': 'LOC105374965', 'score': 0.15}]
chr6	GH06I020181	20181200	20181400	0.79	[{'connected_gene': 'MBOAT1', 'score': 11.12}, {'connected_gene': 'LOC101928573', 'score': 11.12}, {'connected_gene': 'LOC105374965', 'score': 0.14}]
chr6	GH06I020193	20192070	20192219	0.43	[{'connected_gene': 'MBOAT1', 'score': 12.41}, {'connected_gene': 'LOC101928573', 'score': 0.37}, {'connected_gene': 'LOC105374965', 'score': 0.13}]
chr6	GH06I020186	20186382	20187712	0.38	[{'connected_gene': 'MBOAT1', 'score': 12.38}, {'connected_gene': 'LOC101928573', 'score': 12.38}, {'connected_gene': 'LOC105374965', 'score': 0.14}]
chr6	GH06I020173	20173002	20174782	1.31	[{'connected_gene': 'MBOAT1', 'score': 3.25}, {'connected_gene': 'LOC101928573', 'score': 0.28}, {'connected_gene': 'LOC105374965', 'score': 0.15}]
chr6	GH06I020198	20198001	20199677	1.12	[{'connected_gene': 'MBOAT1', 'score': 6.07}, {'connected_gene': 'LOC100506885', 'score': 5.05}, {'connected_gene': 'LOC101928573', 'score': 0.39}, {'connected_gene': 'LOC105374965', 'score': 0.13}]
chr6	GH06I020497	20497104	20498336	0.94	[{'connected_gene': 'GC06M020495', 'score': 550.77}, {'connected_gene': 'MBOAT1', 'score': 11.56}, {'connected_gene': 'LOC101928573', 'score': 10.37}, {'connected_gene': 'CDKAL1', 'score': 4.62}, {'connected_gene': 'GC06P020501', 'score': 0.77}]
chr6	GH06I020498	20498595	20498638	0.4	[{'connected_gene': 'GC06P020501', 'score': 550.77}, {'connected_gene': 'ENSG00000201683', 'score': 550.77}, {'connected_gene': 'MBOAT1', 'score': 10.37}, {'connected_gene': 'LOC101928573', 'score': 10.37}, {'connected_gene': 'GC06M020495', 'score': 0.77}]
chr6	GH06I020499	20498858	20499807	0.51	[{'connected_gene': 'GC06P020501', 'score': 550.77}, {'connected_gene': 'ENSG00000201683', 'score': 550.77}, {'connected_gene': 'MBOAT1', 'score': 10.37}, {'connected_gene': 'LOC101928573', 'score': 10.37}, {'connected_gene': 'GC06M020495', 'score': 0.77}]