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
ENST00000464486	[[48963706, 48963948], [48965535, 48965667]]	None
ENST00000481832	[[48963706, 48963948], [48978316, 48978399], [48980691, 48980845]]	None
ENST00000462781	[[48963706, 48963948], [48989835, 48989949]]	None
ENST00000470937	[[48963706, 48963948], [48978316, 48978399], [48989835, 48989952]]	None
ENST00000378434	[[48985180, 48987247], [48989835, 48989946], [48990448, 48990700], [48991302, 48991456], [48996785, 48996926], [48998128, 48998255], [49018688, 49018840]]	[[48985524, 48986559]]
ENST00000345941	[[48985274, 48987247], [48989835, 48989946], [48991302, 48991456], [48996785, 48996926], [49000994, 49001043]]	[[48985524, 48986559]]
ENST00000482024	[[48985876, 48986341], [48986556, 48986625]]	None
ENST00000465365	[[48996782, 48996926], [48998128, 48998255], [49000715, 49000931], [49013744, 49013948], [49018688, 49018802]]	None
NM_001162498	[[48985180, 48987653]]	[[48985524, 48986559]]
NM_001162497	[[48985180, 48987247], [48989835, 48989946], [48991302, 48991456], [48996785, 48996926], [49000994, 49001043]]	[[48985524, 48986559]]
NM_005767	[[48985180, 48987247], [48989835, 48989946], [48990448, 48990700], [48991302, 48991456], [48996785, 48996926], [48998128, 48998255], [49018688, 49018840]]	[[48985524, 48986559]]

Promoter

Chrom	Start	End	Description
chr13	48987196	48987207	CAGE_peak_3_at_LPAR6_5end
chr13	48987228	48987239	CAGE_peak_2_at_LPAR6_5end
chr13	48987241	48987260	CAGE_peak_1_at_LPAR6_5end
chr13	49001034	49001075	CAGE_peak_4_at_LPAR6_5end
chr13	49018789	49018809	CAGE_peak_5_at_LPAR6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I048257	48257492	48260139	0.7	[{'connected_gene': 'ITM2B', 'score': 11.96}, {'connected_gene': 'RB1', 'score': 6.39}, {'connected_gene': 'LPAR6', 'score': 6.23}, {'connected_gene': 'LINC00441', 'score': 0.26}]
chr13	GH13I048230	48230620	48238366	2.19	[{'connected_gene': 'ITM2B', 'score': 550.77}, {'connected_gene': 'MED4', 'score': 11.18}, {'connected_gene': 'LPAR6', 'score': 6.39}, {'connected_gene': 'RB1', 'score': 5.5}, {'connected_gene': 'LINC00441', 'score': 0.2}]
chr13	GH13I048255	48255416	48257386	0.67	[{'connected_gene': 'ITM2B', 'score': 11.97}, {'connected_gene': 'MED4', 'score': 11.41}, {'connected_gene': 'LPAR6', 'score': 6.17}, {'connected_gene': 'RB1', 'score': 5.62}, {'connected_gene': 'LINC00441', 'score': 0.25}]
chr13	GH13I048154	48154550	48163200	1.53	[{'connected_gene': 'ITM2B', 'score': 39.7}, {'connected_gene': 'RCBTB2', 'score': 7.03}, {'connected_gene': 'RB1', 'score': 2.83}, {'connected_gene': 'LPAR6', 'score': 2.66}, {'connected_gene': 'MED4', 'score': 1.77}, {'connected_gene': 'LOC105370198', 'score': 0.44}, {'connected_gene': 'POLR2KP2', 'score': 0.34}]
chr13	GH13I048142	48142704	48142772	0.8	[{'connected_gene': 'ITM2B', 'score': 12.15}, {'connected_gene': 'MED4-AS1', 'score': 11.27}, {'connected_gene': 'LPAR6', 'score': 1.88}, {'connected_gene': 'RCBTB2', 'score': 1.7}, {'connected_gene': 'POLR2KP2', 'score': 0.44}, {'connected_gene': 'LOC105370198', 'score': 0.34}]
chr13	GH13I048397	48397838	48404802	1.09	[{'connected_gene': 'RB1', 'score': 6.23}, {'connected_gene': 'LPAR6', 'score': 5.6}, {'connected_gene': 'MED4-AS1', 'score': 5.03}, {'connected_gene': 'RCBTB2', 'score': 4.12}, {'connected_gene': 'ENSG00000277233', 'score': 0.31}, {'connected_gene': 'GC13M048388', 'score': 0.31}, {'connected_gene': 'GC13M048356', 'score': 0.28}]
chr13	GH13I048476	48476736	48478222	0.76	[{'connected_gene': 'RB1', 'score': 5.0}, {'connected_gene': 'PIR51921', 'score': 0.77}, {'connected_gene': 'LPAR6', 'score': 0.29}]
chr13	GH13I048614	48614264	48616274	0.31	[{'connected_gene': 'CYSLTR2', 'score': 11.97}, {'connected_gene': 'LINC00462', 'score': 4.76}, {'connected_gene': 'LINC00441', 'score': 4.61}, {'connected_gene': 'RB1', 'score': 4.48}, {'connected_gene': 'LPAR6', 'score': 4.34}, {'connected_gene': 'LOC105370202', 'score': 0.29}]
chr13	GH13I048488	48488385	48495211	1.57	[{'connected_gene': 'MED4', 'score': 11.98}, {'connected_gene': 'LPAR6', 'score': 5.59}, {'connected_gene': 'RB1', 'score': 4.99}, {'connected_gene': 'GC13P048483', 'score': 0.44}, {'connected_gene': 'RCBTB2', 'score': 0.26}, {'connected_gene': 'ENSG00000274929', 'score': 0.26}]
chr13	GH13I048241	48241314	48243321	0.59	[{'connected_gene': 'MED4', 'score': 10.9}, {'connected_gene': 'LINC00462', 'score': 9.8}, {'connected_gene': 'RB1', 'score': 5.03}, {'connected_gene': 'LPAR6', 'score': 4.46}, {'connected_gene': 'ITM2B', 'score': 0.44}, {'connected_gene': 'LINC00441', 'score': 0.21}]
chr13	GH13I048556	48556699	48557115	0.53	[{'connected_gene': 'FNDC3A', 'score': 9.06}, {'connected_gene': 'RB1', 'score': 7.45}, {'connected_gene': 'RCBTB2', 'score': 5.8}, {'connected_gene': 'LPAR6', 'score': 3.96}, {'connected_gene': 'LOC105370201', 'score': 0.39}, {'connected_gene': 'GC13P048533', 'score': 0.34}]
chr13	GH13I048729	48729849	48732444	1.06	[{'connected_gene': 'FNDC3A', 'score': 14.65}, {'connected_gene': 'CYSLTR2', 'score': 11.85}, {'connected_gene': 'RCBTB2', 'score': 2.25}, {'connected_gene': 'RB1', 'score': 2.2}, {'connected_gene': 'LPAR6', 'score': 1.38}, {'connected_gene': 'ITM2B', 'score': 1.12}, {'connected_gene': 'GC13P048764', 'score': 0.29}]
chr13	GH13I048498	48498743	48501822	1.24	[{'connected_gene': 'RCBTB2', 'score': 11.87}, {'connected_gene': 'RB1', 'score': 9.7}, {'connected_gene': 'FNDC3A', 'score': 7.0}, {'connected_gene': 'LPAR6', 'score': 6.65}, {'connected_gene': 'PCNPP5', 'score': 5.08}, {'connected_gene': 'GC13P048483', 'score': 0.37}, {'connected_gene': 'ENSG00000274929', 'score': 0.29}]
chr13	GH13I048549	48549601	48550000	0.78	[{'connected_gene': 'RCBTB2', 'score': 8.44}, {'connected_gene': 'RB1', 'score': 5.28}, {'connected_gene': 'LPAR6', 'score': 5.06}, {'connected_gene': 'FNDC3A', 'score': 2.25}, {'connected_gene': 'GC13P048533', 'score': 0.37}, {'connected_gene': 'LOC105370201', 'score': 0.34}]
chr13	GH13I048561	48561083	48563429	1.43	[{'connected_gene': 'RCBTB2', 'score': 7.26}, {'connected_gene': 'LPAR6', 'score': 6.19}, {'connected_gene': 'RB1', 'score': 5.94}, {'connected_gene': 'FNDC3A', 'score': 4.21}, {'connected_gene': 'ITM2B', 'score': 2.27}, {'connected_gene': 'CYSLTR2', 'score': 2.23}, {'connected_gene': 'LOC105370201', 'score': 0.44}, {'connected_gene': 'GC13P048533', 'score': 0.31}]
chr13	GH13I048504	48504050	48509011	1.17	[{'connected_gene': 'RCBTB2', 'score': 6.53}, {'connected_gene': 'LPAR6', 'score': 6.32}, {'connected_gene': 'GC13P048483', 'score': 0.34}, {'connected_gene': 'ENSG00000274929', 'score': 0.31}]
chr13	GH13I048530	48530816	48534527	2.43	[{'connected_gene': 'RCBTB2', 'score': 557.68}, {'connected_gene': 'ENSG00000274929', 'score': 550.77}, {'connected_gene': 'GC13P048532', 'score': 550.77}, {'connected_gene': 'GC13P048533', 'score': 550.77}, {'connected_gene': 'PPP1R26P1', 'score': 17.28}, {'connected_gene': 'LINC00462', 'score': 10.01}, {'connected_gene': 'SETDB2', 'score': 9.72}, {'connected_gene': 'RB1', 'score': 6.3}, {'connected_gene': 'LPAR6', 'score': 5.68}]
chr13	GH13I048567	48567002	48574999	1.39	[{'connected_gene': 'LOC105370201', 'score': 550.77}, {'connected_gene': 'RB1', 'score': 12.28}, {'connected_gene': 'RCBTB2', 'score': 9.46}, {'connected_gene': 'FNDC3A', 'score': 5.69}, {'connected_gene': 'LPAR6', 'score': 5.41}, {'connected_gene': 'LINC00441', 'score': 4.91}, {'connected_gene': 'CYSLTR2', 'score': 1.29}, {'connected_gene': 'LINC01077', 'score': 0.77}, {'connected_gene': 'GC13P048533', 'score': 0.28}]
chr13	GH13I048409	48409068	48413968	2.06	[{'connected_gene': 'LPAR6', 'score': 550.29}, {'connected_gene': 'RB1', 'score': 5.06}, {'connected_gene': 'ENSG00000277233', 'score': 0.37}, {'connected_gene': 'GC13M048388', 'score': 0.37}, {'connected_gene': 'GC13M048356', 'score': 0.25}]
chr13	GH13I048448	48448223	48450089	0.69	[{'connected_gene': 'LPAR6', 'score': 0.77}, {'connected_gene': 'PIR51921', 'score': 0.29}, {'connected_gene': 'RB1', 'score': 0.11}]
chr13	GH13I048426	48426898	48426957	0.5	[{'connected_gene': 'LPAR6', 'score': 550.37}, {'connected_gene': 'ENSG00000277233', 'score': 0.77}, {'connected_gene': 'GC13M048388', 'score': 0.77}, {'connected_gene': 'GC13M048356', 'score': 0.21}, {'connected_gene': 'RB1', 'score': 0.13}]
chr13	GH13I048446	48446065	48447315	0.63	[{'connected_gene': 'LPAR6', 'score': 556.11}, {'connected_gene': 'PIR51921', 'score': 0.28}, {'connected_gene': 'RB1', 'score': 0.11}]
chr13	GH13I048444	48444650	48444709	0.61	[{'connected_gene': 'LPAR6', 'score': 550.77}, {'connected_gene': 'GC13M048388', 'score': 0.39}, {'connected_gene': 'RB1', 'score': 0.11}]
chr13	GH13I048628	48628448	48631390	0.66	[{'connected_gene': 'LPAR6', 'score': 4.74}, {'connected_gene': 'CYSLTR2', 'score': 0.34}, {'connected_gene': 'LOC105370202', 'score': 0.25}]
chr13	GH13I048631	48631665	48631814	0.4	[{'connected_gene': 'LPAR6', 'score': 4.74}, {'connected_gene': 'CYSLTR2', 'score': 0.34}, {'connected_gene': 'LOC105370202', 'score': 0.23}]
chr13	GH13I048436	48436202	48437830	0.31	[{'connected_gene': 'LPAR6', 'score': 6.11}, {'connected_gene': 'MED4-AS1', 'score': 5.03}, {'connected_gene': 'RB1', 'score': 5.02}, {'connected_gene': 'GC13M048388', 'score': 0.44}]
chr13	GH13I048577	48577202	48580118	1.54	[{'connected_gene': 'LINC00462', 'score': 10.34}, {'connected_gene': 'RB1', 'score': 9.68}, {'connected_gene': 'RCBTB2', 'score': 8.65}, {'connected_gene': 'LPAR6', 'score': 6.86}, {'connected_gene': 'FNDC3A', 'score': 6.42}, {'connected_gene': 'ITM2B', 'score': 1.15}, {'connected_gene': 'LINC01077', 'score': 0.44}, {'connected_gene': 'GC13P048533', 'score': 0.26}]
chr13	GH13I048580	48580305	48580654	1.04	[{'connected_gene': 'LINC00462', 'score': 550.77}, {'connected_gene': 'LOC105370202', 'score': 550.77}, {'connected_gene': 'RB1', 'score': 3.37}, {'connected_gene': 'RCBTB2', 'score': 3.07}, {'connected_gene': 'LPAR6', 'score': 2.71}, {'connected_gene': 'FNDC3A', 'score': 2.21}, {'connected_gene': 'LINC01077', 'score': 0.44}, {'connected_gene': 'GC13P048533', 'score': 0.25}]
chr13	GH13I048619	48619937	48621655	0.2	[{'connected_gene': 'LINC00462', 'score': 4.86}, {'connected_gene': 'LPAR6', 'score': 4.36}, {'connected_gene': 'CYSLTR2', 'score': 0.29}, {'connected_gene': 'LOC105370202', 'score': 0.28}]
chr13	GH13I048623	48623240	48628004	1.35	[{'connected_gene': 'LINC00462', 'score': 4.93}, {'connected_gene': 'LPAR6', 'score': 4.21}, {'connected_gene': 'CYSLTR2', 'score': 0.31}, {'connected_gene': 'LOC105370202', 'score': 0.26}]
chr13	GH13I048407	48406025	48406174	0.43	[{'connected_gene': 'ENSG00000277233', 'score': 0.34}, {'connected_gene': 'GC13M048388', 'score': 0.34}, {'connected_gene': 'LPAR6', 'score': 0.28}, {'connected_gene': 'GC13M048356', 'score': 0.26}, {'connected_gene': 'RB1', 'score': 0.15}]
chr13	GH13I048478	48478545	48478694	0.58	[{'connected_gene': 'PIR51921', 'score': 0.77}, {'connected_gene': 'LPAR6', 'score': 0.29}, {'connected_gene': 'RB1', 'score': 0.09}]
chr13	GH13I048406	48406601	48406800	0.2	[{'connected_gene': 'ENSG00000277233', 'score': 0.34}, {'connected_gene': 'GC13M048388', 'score': 0.34}, {'connected_gene': 'LPAR6', 'score': 0.28}, {'connected_gene': 'GC13M048356', 'score': 0.26}, {'connected_gene': 'RB1', 'score': 0.15}]
chr13	GH13I048431	48431329	48432742	0.86	[{'connected_gene': 'GC13M048388', 'score': 550.77}, {'connected_gene': 'MED4-AS1', 'score': 4.52}, {'connected_gene': 'LPAR6', 'score': 0.39}, {'connected_gene': 'RB1', 'score': 0.13}]