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
ENST00000392848	[[101192041, 101192170], [101192870, 101192932], [101193332, 101193472], [101194732, 101194796], [101195272, 101195403], [101198378, 101198407]]	[[101193405, 101193472], [101194732, 101194796], [101195272, 101195403], [101198378, 101198407]]
ENST00000341267	[[101193163, 101193472], [101194732, 101194796], [101195272, 101195403], [101198378, 101198520], [101200485, 101201539]]	[[101193405, 101193472], [101194732, 101194796], [101195272, 101195403], [101198378, 101198520], [101200485, 101201233]]
ENST00000555747	[[101193229, 101193472], [101194732, 101195027]]	None
ENST00000331224	[[101193245, 101193472], [101194732, 101194796], [101195272, 101195403], [101198378, 101198520], [101200485, 101200765], [101200984, 101201464]]	[[101193405, 101193472], [101194732, 101194796], [101195272, 101195403], [101198378, 101198520], [101200485, 101200765], [101200984, 101201233]]
ENST00000556051	[[101193366, 101193472], [101194732, 101194796], [101195272, 101195571]]	[[101193405, 101193472], [101194732, 101194796], [101195272, 101195552]]
NM_001317172	[[101193201, 101193472], [101194732, 101194796], [101195272, 101195403], [101198378, 101198520], [101200485, 101200765], [101200984, 101204561]]	[[101193405, 101193472], [101194732, 101194796], [101195272, 101195403], [101198378, 101198520], [101200485, 101200765], [101200984, 101201233]]
NM_003836	[[101193201, 101193472], [101194732, 101194796], [101195272, 101195403], [101198378, 101198520], [101200485, 101204561]]	[[101193405, 101193472], [101194732, 101194796], [101195272, 101195403], [101198378, 101198520], [101200485, 101201233]]

Promoter

Chrom	Start	End	Description
chr14	101193191	101193241	CAGE_peak_1_at_DLK1_5end
chr14	101193246	101193264	CAGE_peak_2_at_DLK1_5end
chr14	101193271	101193288	CAGE_peak_3_at_DLK1_5end
chr14	101193325	101193336	CAGE_peak_4_at_DLK1_5end
chr14	101193418	101193423	CAGE_peak_8_at_DLK1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I100726	100726059	100736387	1.41	[{'connected_gene': 'DLK1', 'score': 554.88}, {'connected_gene': 'WDR25', 'score': 4.47}, {'connected_gene': 'GC14P103264', 'score': 0.77}, {'connected_gene': 'GC14P103131', 'score': 0.77}, {'connected_gene': 'GC14P103255', 'score': 0.77}, {'connected_gene': 'GC14P103270', 'score': 0.77}, {'connected_gene': 'GC14P103257', 'score': 0.77}]
chr14	GH14I100788	100788010	100793464	1.11	[{'connected_gene': 'DLK1', 'score': 10.81}, {'connected_gene': 'MIR493', 'score': 10.64}, {'connected_gene': 'MIR337', 'score': 10.64}, {'connected_gene': 'MIR431', 'score': 10.62}, {'connected_gene': 'MIR433', 'score': 10.62}, {'connected_gene': 'MIR136', 'score': 10.62}, {'connected_gene': 'RTL1', 'score': 10.62}, {'connected_gene': 'MIR127', 'score': 10.62}, {'connected_gene': 'BEGAIN', 'score': 9.78}, {'connected_gene': 'MEG3', 'score': 0.39}, {'connected_gene': 'MIR2392', 'score': 0.34}]
chr14	GH14I100793	100793541	100794876	0.31	[{'connected_gene': 'DLK1', 'score': 10.27}, {'connected_gene': 'MIR493', 'score': 10.1}, {'connected_gene': 'MIR337', 'score': 10.09}, {'connected_gene': 'MIR431', 'score': 10.08}, {'connected_gene': 'MIR433', 'score': 10.08}, {'connected_gene': 'MIR127', 'score': 10.08}, {'connected_gene': 'MIR136', 'score': 10.07}, {'connected_gene': 'RTL1', 'score': 10.07}, {'connected_gene': 'BEGAIN', 'score': 9.78}, {'connected_gene': 'MEG3', 'score': 0.39}, {'connected_gene': 'MIR2392', 'score': 0.34}]
chr14	GH14I100691	100691364	100695469	1.59	[{'connected_gene': 'DLK1', 'score': 11.8}, {'connected_gene': 'MIR493', 'score': 10.01}, {'connected_gene': 'MIR337', 'score': 10.0}, {'connected_gene': 'MIR431', 'score': 10.0}, {'connected_gene': 'MIR433', 'score': 10.0}, {'connected_gene': 'MIR127', 'score': 10.0}, {'connected_gene': 'MIR136', 'score': 10.0}, {'connected_gene': 'RTL1', 'score': 10.0}, {'connected_gene': 'LINC00523', 'score': 5.67}, {'connected_gene': 'LOC105370668', 'score': 0.44}, {'connected_gene': 'LOC105370669', 'score': 0.37}]
chr14	GH14I100688	100688227	100689623	1.03	[{'connected_gene': 'DLK1', 'score': 11.79}, {'connected_gene': 'MIR493', 'score': 10.0}, {'connected_gene': 'MIR337', 'score': 10.0}, {'connected_gene': 'MIR431', 'score': 10.0}, {'connected_gene': 'MIR433', 'score': 10.0}, {'connected_gene': 'MIR127', 'score': 10.0}, {'connected_gene': 'MIR136', 'score': 10.0}, {'connected_gene': 'RTL1', 'score': 10.0}, {'connected_gene': 'LOC105370668', 'score': 0.44}, {'connected_gene': 'LOC105370669', 'score': 0.34}]
chr14	GH14I100782	100782253	100787842	0.82	[{'connected_gene': 'DLK1', 'score': 10.83}, {'connected_gene': 'MEG3', 'score': 0.44}, {'connected_gene': 'MIR2392', 'score': 0.31}]
chr14	GH14I100755	100755824	100755873	0.86	[{'connected_gene': 'DLK1', 'score': 11.74}, {'connected_gene': 'MEG3', 'score': 9.97}, {'connected_gene': 'PIR41786', 'score': 0.37}]
chr14	GH14I100761	100761544	100762165	0.91	[{'connected_gene': 'DLK1', 'score': 11.22}, {'connected_gene': 'MEG3', 'score': 0.37}, {'connected_gene': 'PIR41786', 'score': 0.34}]
chr14	GH14I100695	100695624	100697337	1.06	[{'connected_gene': 'DLK1', 'score': 10.76}, {'connected_gene': 'LOC105370669', 'score': 0.39}, {'connected_gene': 'LOC105370668', 'score': 0.39}]
chr14	GH14I100672	100672755	100673727	1.24	[{'connected_gene': 'DLK1', 'score': 6.01}, {'connected_gene': 'LOC105370667', 'score': 0.44}, {'connected_gene': 'ENSG00000258717', 'score': 0.44}, {'connected_gene': 'LINC00523', 'score': 0.37}]
chr14	GH14I100769	100769244	100781991	1.39	[{'connected_gene': 'DLK1', 'score': 10.99}, {'connected_gene': 'MIR1247', 'score': 9.72}, {'connected_gene': 'DIO3', 'score': 9.71}, {'connected_gene': 'EVL', 'score': 6.15}, {'connected_gene': 'MEG3', 'score': 0.77}, {'connected_gene': 'PIR41786', 'score': 0.28}]
chr14	GH14I100723	100723340	100724570	0.38	[{'connected_gene': 'DLK1', 'score': 550.77}, {'connected_gene': 'PIR37335', 'score': 0.44}, {'connected_gene': 'GC14P103258', 'score': 0.44}]
chr14	GH14I100648	100648667	100649853	0.72	[{'connected_gene': 'WDR25', 'score': 20.62}, {'connected_gene': 'DLK1', 'score': 10.4}, {'connected_gene': 'WARS', 'score': 10.23}, {'connected_gene': 'LINC00523', 'score': 5.17}, {'connected_gene': 'PIR56329', 'score': 0.44}, {'connected_gene': 'ENSG00000258576', 'score': 0.22}]
chr14	GH14I100987	100987901	100990703	0.84	[{'connected_gene': 'SNORD114-27', 'score': 550.77}, {'connected_gene': 'GC14P103193', 'score': 550.77}, {'connected_gene': 'SNORD114-29', 'score': 550.77}, {'connected_gene': 'SNORD114-28', 'score': 550.77}, {'connected_gene': 'ENSG00000258399', 'score': 7.33}, {'connected_gene': 'MEG8', 'score': 6.05}, {'connected_gene': 'DLK1', 'score': 3.16}, {'connected_gene': 'RTL1', 'score': 1.48}]
chr14	GH14I100746	100746692	100748045	0.63	[{'connected_gene': 'SNORD112', 'score': 10.13}, {'connected_gene': 'DLK1', 'score': 4.94}, {'connected_gene': 'PIR41786', 'score': 0.44}, {'connected_gene': 'MEG3', 'score': 0.29}]
chr14	GH14I100583	100583480	100583520	0.33	[{'connected_gene': 'BEGAIN', 'score': 3.41}, {'connected_gene': 'DLK1', 'score': 1.69}, {'connected_gene': 'ENSG00000259031', 'score': 0.26}]
chr14	GH14I100628	100628072	100631326	0.2	[{'connected_gene': 'BEGAIN', 'score': 12.43}, {'connected_gene': 'WARS', 'score': 10.32}, {'connected_gene': 'WDR25', 'score': 10.32}, {'connected_gene': 'DLK1', 'score': 9.81}, {'connected_gene': 'SLC25A47', 'score': 9.68}, {'connected_gene': 'PIR56329', 'score': 0.34}, {'connected_gene': 'ENSG00000258576', 'score': 0.26}]
chr14	GH14I100652	100652249	100652253	0.4	[{'connected_gene': 'BEGAIN', 'score': 10.87}, {'connected_gene': 'WARS', 'score': 10.32}, {'connected_gene': 'WDR25', 'score': 10.32}, {'connected_gene': 'DLK1', 'score': 9.82}, {'connected_gene': 'PIR56329', 'score': 0.77}, {'connected_gene': 'ENSG00000258576', 'score': 0.21}]
chr14	GH14I100475	100475065	100478428	1.4	[{'connected_gene': 'BEGAIN', 'score': 19.14}, {'connected_gene': 'MEG3', 'score': 9.28}, {'connected_gene': 'DLK1', 'score': 9.06}, {'connected_gene': 'HMGN1P25', 'score': 0.77}, {'connected_gene': 'GC14M100431', 'score': 0.21}, {'connected_gene': 'LOC105370664', 'score': 0.19}, {'connected_gene': 'WDR25', 'score': 0.15}]
chr14	GH14I100616	100616954	100619000	1.27	[{'connected_gene': 'BEGAIN', 'score': 17.8}, {'connected_gene': 'DIO3', 'score': 12.01}, {'connected_gene': 'DIO3OS', 'score': 11.03}, {'connected_gene': 'DLK1', 'score': 9.89}, {'connected_gene': 'ENSG00000258576', 'score': 0.31}, {'connected_gene': 'PIR56329', 'score': 0.28}]
chr14	GH14I100833	100833504	100844086	0.92	[{'connected_gene': 'MEG3', 'score': 11.47}, {'connected_gene': 'MIR493', 'score': 11.25}, {'connected_gene': 'MIR337', 'score': 11.23}, {'connected_gene': 'MIR431', 'score': 11.21}, {'connected_gene': 'MIR433', 'score': 11.21}, {'connected_gene': 'MIR127', 'score': 11.21}, {'connected_gene': 'MIR136', 'score': 11.2}, {'connected_gene': 'RTL1', 'score': 11.2}, {'connected_gene': 'SNORD112', 'score': 10.79}, {'connected_gene': 'MIR370', 'score': 10.13}, {'connected_gene': 'DLK1', 'score': 10.11}, {'connected_gene': 'ENSG00000258399', 'score': 0.77}, {'connected_gene': 'GC14M100850', 'score': 0.39}, {'connected_gene': 'ENSG00000258663', 'score': 0.34}]
chr14	GH14I100165	100165085	100167600	1.46	[{'connected_gene': 'DEGS2', 'score': 550.77}, {'connected_gene': 'GC14M100159', 'score': 550.77}, {'connected_gene': 'CCNK', 'score': 13.59}, {'connected_gene': 'YY1', 'score': 9.82}, {'connected_gene': 'DLK1', 'score': 5.79}, {'connected_gene': 'SLC25A29', 'score': 5.22}]
chr14	GH14I100685	100685044	100685361	0.74	[{'connected_gene': 'LOC105370668', 'score': 550.77}, {'connected_gene': 'DLK1', 'score': 13.14}, {'connected_gene': 'RTL1', 'score': 5.41}, {'connected_gene': 'LOC105370669', 'score': 0.34}]
chr14	GH14I100657	100657806	100671215	1.36	[{'connected_gene': 'LOC105370667', 'score': 550.77}, {'connected_gene': 'DLK1', 'score': 17.62}, {'connected_gene': 'WARS', 'score': 10.87}, {'connected_gene': 'WDR25', 'score': 10.87}, {'connected_gene': 'BEGAIN', 'score': 10.85}, {'connected_gene': 'MEG9', 'score': 9.67}, {'connected_gene': 'MIR493', 'score': 9.6}, {'connected_gene': 'MIR337', 'score': 9.6}, {'connected_gene': 'MIR431', 'score': 9.59}, {'connected_gene': 'MIR433', 'score': 9.59}, {'connected_gene': 'MIR127', 'score': 9.59}, {'connected_gene': 'MIR136', 'score': 9.59}, {'connected_gene': 'RTL1', 'score': 9.59}, {'connected_gene': 'LINC00523', 'score': 6.32}]
chr14	GH14I100819	100819857	100833214	1.97	[{'connected_gene': 'ENSG00000274884', 'score': 550.77}, {'connected_gene': 'DLK1', 'score': 16.86}, {'connected_gene': 'MEG3', 'score': 11.26}, {'connected_gene': 'MIR493', 'score': 10.72}, {'connected_gene': 'MIR337', 'score': 10.71}, {'connected_gene': 'MIR431', 'score': 10.69}, {'connected_gene': 'MIR433', 'score': 10.68}, {'connected_gene': 'MIR136', 'score': 10.68}, {'connected_gene': 'RTL1', 'score': 10.68}, {'connected_gene': 'MIR127', 'score': 10.68}, {'connected_gene': 'SNORD112', 'score': 9.91}, {'connected_gene': 'MIR370', 'score': 9.89}, {'connected_gene': 'YY1', 'score': 6.18}, {'connected_gene': 'ENSG00000276919', 'score': 0.77}]
chr14	GH14I100737	100737489	100738591	0.4	[{'connected_gene': 'PIR41786', 'score': 550.77}, {'connected_gene': 'DLK1', 'score': 5.29}, {'connected_gene': 'MEG3', 'score': 0.26}]
chr14	GH14I100736	100736884	100736906	0.31	[{'connected_gene': 'PIR41786', 'score': 550.77}, {'connected_gene': 'GC14P103264', 'score': 0.77}, {'connected_gene': 'DLK1', 'score': 0.39}]
chr14	GH14I100738	100736564	100736753	0.52	[{'connected_gene': 'GC14P103264', 'score': 550.77}, {'connected_gene': 'GC14P103131', 'score': 550.77}, {'connected_gene': 'GC14P103255', 'score': 550.77}, {'connected_gene': 'PIR41786', 'score': 550.77}, {'connected_gene': 'GC14P103270', 'score': 550.77}, {'connected_gene': 'GC14P103257', 'score': 550.77}, {'connected_gene': 'DLK1', 'score': 0.39}]
chr14	GH14I100675	100675747	100683109	1.68	[{'connected_gene': 'ENSG00000258717', 'score': 550.77}, {'connected_gene': 'YY1', 'score': 11.42}, {'connected_gene': 'DLK1', 'score': 6.26}, {'connected_gene': 'BEGAIN', 'score': 5.65}, {'connected_gene': 'LOC105370667', 'score': 0.39}, {'connected_gene': 'LINC00523', 'score': 0.34}]
chr14	GH14I100713	100713622	100714820	0.57	[{'connected_gene': 'PIR37335', 'score': 550.77}, {'connected_gene': 'GC14P103258', 'score': 550.77}, {'connected_gene': 'MEG3', 'score': 6.81}, {'connected_gene': 'DLK1', 'score': 0.39}]