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
ENST00000346618	[[20402397, 20402856], [20480076, 20480188], [20481436, 20481656], [20482992, 20483151], [20486919, 20487034], [20488343, 20488479], [20490398, 20493941]]	[[20402463, 20402856], [20480076, 20480188], [20481436, 20481656], [20482992, 20483151], [20486919, 20487034], [20488343, 20488479], [20490398, 20490661]]
ENST00000535432	[[20404033, 20404063], [20480076, 20480188], [20481454, 20481656], [20482992, 20483151], [20486919, 20487034], [20488343, 20488479], [20490398, 20493789]]	[[20404045, 20404063], [20480076, 20480188], [20481454, 20481656], [20482992, 20483151], [20486919, 20487034], [20488343, 20488479], [20490398, 20490661]]
NM_001949	[[20402136, 20402856], [20480076, 20480188], [20481436, 20481656], [20482992, 20483151], [20486919, 20487034], [20488343, 20488479], [20490398, 20493945]]	[[20402463, 20402856], [20480076, 20480188], [20481436, 20481656], [20482992, 20483151], [20486919, 20487034], [20488343, 20488479], [20490398, 20490661]]
NM_001243076	[[20403909, 20404063], [20480076, 20480188], [20481454, 20481656], [20482992, 20483151], [20486919, 20487034], [20488343, 20488479], [20490398, 20493945]]	[[20404045, 20404063], [20480076, 20480188], [20481454, 20481656], [20482992, 20483151], [20486919, 20487034], [20488343, 20488479], [20490398, 20490661]]

Promoter

Chrom	Start	End	Description
chr6	20402070	20402082	CAGE_peak_5_at_E2F3_5end
chr6	20402098	20402101	CAGE_peak_9_at_E2F3_5end
chr6	20402102	20402152	CAGE_peak_1_at_E2F3_5end
chr6	20402608	20402629	CAGE_peak_13_at_E2F3_5end
chr6	20403727	20403769	CAGE_peak_4_at_E2F3_5end
chr6	20403826	20403886	CAGE_peak_2_at_E2F3_5end
chr6	20403916	20403965	CAGE_peak_3_at_E2F3_5end
chr6	20403997	20404008	CAGE_peak_7_at_E2F3_5end
chr6	20404061	20404072	CAGE_peak_10_at_E2F3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I021263	21263530	21265836	1.27	[{'connected_gene': 'CDKAL1', 'score': 14.96}, {'connected_gene': 'SOX4', 'score': 11.18}, {'connected_gene': 'E2F3', 'score': 5.18}, {'connected_gene': 'ENSG00000227089', 'score': 0.16}, {'connected_gene': 'LOC105374966', 'score': 0.13}]
chr6	GH06I020407	20407548	20412279	1.32	[{'connected_gene': 'CDKAL1', 'score': 11.47}, {'connected_gene': 'E2F3', 'score': 0.44}, {'connected_gene': 'RN7SL128P', 'score': 0.39}]
chr6	GH06I020406	20406724	20407047	0.51	[{'connected_gene': 'CDKAL1', 'score': 11.47}, {'connected_gene': 'E2F3', 'score': 0.77}, {'connected_gene': 'RN7SL128P', 'score': 0.37}]
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	GH06I020529	20529230	20529359	0.69	[{'connected_gene': 'E2F3', 'score': 12.48}, {'connected_gene': 'CDKAL1', 'score': 0.44}, {'connected_gene': 'ENSG00000201683', 'score': 0.31}]
chr6	GH06I020528	20528201	20529000	0.95	[{'connected_gene': 'E2F3', 'score': 12.48}, {'connected_gene': 'CDKAL1', 'score': 0.44}, {'connected_gene': 'ENSG00000201683', 'score': 0.31}]
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	GH06I020427	20427569	20428537	1.14	[{'connected_gene': 'E2F3', 'score': 12.06}, {'connected_gene': 'RN7SL128P', 'score': 0.44}, {'connected_gene': 'E2F3-IT1', 'score': 0.44}]
chr6	GH06I020479	20479203	20480426	0.31	[{'connected_gene': 'E2F3', 'score': 12.49}, {'connected_gene': 'GC06M020495', 'score': 0.37}, {'connected_gene': 'RNU6-141P', 'score': 0.31}]
chr6	GH06I020480	20480560	20482608	0.46	[{'connected_gene': 'E2F3', 'score': 12.49}, {'connected_gene': 'GC06M020495', 'score': 0.39}, {'connected_gene': 'RNU6-141P', 'score': 0.31}]
chr6	GH06I020455	20455124	20456284	0.85	[{'connected_gene': 'E2F3', 'score': 12.04}, {'connected_gene': 'RNU6-141P', 'score': 0.77}, {'connected_gene': 'GC06M020495', 'score': 0.26}]
chr6	GH06I020456	20456838	20460157	1.14	[{'connected_gene': 'E2F3', 'score': 12.03}, {'connected_gene': 'RNU6-141P', 'score': 0.44}, {'connected_gene': 'GC06M020495', 'score': 0.28}]
chr6	GH06I020430	20430909	20432909	0.56	[{'connected_gene': 'E2F3', 'score': 12.04}, {'connected_gene': 'E2F3-IT1', 'score': 0.44}, {'connected_gene': 'RN7SL128P', 'score': 0.39}]
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	GH06I020421	20421833	20423715	0.46	[{'connected_gene': 'RN7SL128P', 'score': 550.77}, {'connected_gene': 'E2F3', 'score': 12.47}, {'connected_gene': 'E2F3-IT1', 'score': 0.37}]
chr6	GH06I020414	20414904	20418828	1.25	[{'connected_gene': 'RN7SL128P', 'score': 0.44}, {'connected_gene': 'E2F3', 'score': 0.39}]
chr6	GH06I020415	20414330	20414646	0.58	[{'connected_gene': 'RN7SL128P', 'score': 0.44}, {'connected_gene': 'E2F3', 'score': 0.39}]
chr6	GH06I020424	20424262	20426044	1.32	[{'connected_gene': 'RN7SL128P', 'score': 0.77}, {'connected_gene': 'E2F3-IT1', 'score': 0.39}, {'connected_gene': 'E2F3', 'score': 0.34}]
chr6	GH06I020426	20426601	20426800	0.66	[{'connected_gene': 'RN7SL128P', 'score': 0.77}, {'connected_gene': 'E2F3-IT1', 'score': 0.39}, {'connected_gene': 'E2F3', 'score': 0.34}]
chr6	GH06I020453	20453844	20454994	0.96	[{'connected_gene': 'RNU6-141P', 'score': 550.77}, {'connected_gene': 'GC06M020495', 'score': 0.26}, {'connected_gene': 'E2F3', 'score': 0.23}]
chr6	GH06I020462	20462119	20465441	0.74	[{'connected_gene': 'RNU6-141P', 'score': 0.39}, {'connected_gene': 'GC06M020495', 'score': 0.29}, {'connected_gene': 'E2F3', 'score': 0.21}]
chr6	GH06I020466	20466446	20467744	0.72	[{'connected_gene': 'RNU6-141P', 'score': 0.39}, {'connected_gene': 'GC06M020495', 'score': 0.31}, {'connected_gene': 'E2F3', 'score': 0.2}]
chr6	GH06I020439	20439138	20440436	0.43	[{'connected_gene': 'E2F3-IT1', 'score': 550.77}, {'connected_gene': 'RNU6-141P', 'score': 0.39}, {'connected_gene': 'E2F3', 'score': 0.28}]
chr6	GH06I020473	20473373	20477187	0.72	[{'connected_gene': 'GC06M020495', 'score': 0.34}, {'connected_gene': 'RNU6-141P', 'score': 0.34}, {'connected_gene': 'E2F3', 'score': 0.19}]