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
ENST00000555545	[[61201459, 61201669], [61220270, 61220672]]	None
ENST00000261245	[[61201479, 61201669], [61262934, 61263087], [61264804, 61264878], [61275042, 61275146], [61278704, 61278845], [61285439, 61285565], [61346431, 61346553], [61434946, 61436671]]	[[61201580, 61201669], [61262934, 61263087], [61264804, 61264878], [61275042, 61275146], [61278704, 61278845], [61285439, 61285565], [61346431, 61346553], [61434946, 61435067]]
ENST00000556764	[[61201490, 61201669], [61262934, 61263087], [61264804, 61264878], [61275042, 61275733]]	None
ENST00000539616	[[61201493, 61201669], [61262934, 61263087], [61264804, 61264878], [61275042, 61275146], [61278704, 61278845], [61346431, 61346553], [61434946, 61435396]]	[[61201580, 61201669], [61262934, 61263087], [61264804, 61264878], [61275042, 61275146], [61278704, 61278845], [61346431, 61346553], [61434946, 61435067]]
ENST00000553354	[[61201496, 61201669], [61275042, 61275146]]	None
ENST00000554002	[[61275041, 61275146], [61278704, 61278845], [61285439, 61285565], [61346431, 61346553], [61435276, 61435398]]	[[61275041, 61275146], [61278704, 61278845], [61285439, 61285565], [61346431, 61346553], [61435276, 61435304]]
ENST00000554641	[[61278703, 61278845], [61285439, 61285565], [61346431, 61346759]]	None
ENST00000557134	[[61278704, 61278845], [61285439, 61285565], [61346431, 61346553], [61434946, 61435115], [61435276, 61435398]]	[[61278704, 61278845], [61285439, 61285565], [61346431, 61346553], [61434946, 61435067]]
ENST00000556525	[[61263037, 61263087], [61264804, 61264878], [61275042, 61275146], [61278704, 61278845], [61285478, 61285578]]	None
NM_001177963	[[61201458, 61201669], [61262934, 61263087], [61264804, 61264878], [61275042, 61275146], [61278704, 61278845], [61346431, 61346553], [61434946, 61435398]]	[[61201580, 61201669], [61262934, 61263087], [61264804, 61264878], [61275042, 61275146], [61278704, 61278845], [61346431, 61346553], [61434946, 61435067]]
NM_002431	[[61201458, 61201669], [61262934, 61263087], [61264804, 61264878], [61275042, 61275146], [61278704, 61278845], [61285439, 61285565], [61346431, 61346553], [61434946, 61435398]]	[[61201580, 61201669], [61262934, 61263087], [61264804, 61264878], [61275042, 61275146], [61278704, 61278845], [61285439, 61285565], [61346431, 61346553], [61434946, 61435067]]

Promoter

Chrom	Start	End	Description
chr14	61201445	61201530	CAGE_peak_1_at_MNAT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I060640	60640562	60659805	2.85	[{'connected_gene': 'SIX1', 'score': 550.44}, {'connected_gene': 'TRMT5', 'score': 45.64}, {'connected_gene': 'SLC38A6', 'score': 31.46}, {'connected_gene': 'PCNX4', 'score': 29.74}, {'connected_gene': 'C14orf39', 'score': 25.92}, {'connected_gene': 'LOC101927702', 'score': 12.32}, {'connected_gene': 'SIX4', 'score': 10.84}, {'connected_gene': 'TMEM30B', 'score': 10.66}, {'connected_gene': 'MNAT1', 'score': 10.62}, {'connected_gene': 'SIX6', 'score': 9.93}, {'connected_gene': 'RNU6-398P', 'score': 9.09}, {'connected_gene': 'PPM1A', 'score': 5.21}, {'connected_gene': 'GC14P060643', 'score': 0.44}, {'connected_gene': 'LOC105378189', 'score': 0.44}, {'connected_gene': 'SALRNA1', 'score': 0.39}, {'connected_gene': 'GC14M060376', 'score': 0.19}]
chr14	GH14I060865	60865527	60868302	0.31	[{'connected_gene': 'RTN1', 'score': 6.22}, {'connected_gene': 'ENSG00000258892', 'score': 0.39}, {'connected_gene': 'MAD2L1P1', 'score': 0.17}, {'connected_gene': 'MNAT1', 'score': 0.12}]
chr14	GH14I060861	60861600	60864037	0.91	[{'connected_gene': 'RTN1', 'score': 6.58}, {'connected_gene': 'HIF1A-AS1', 'score': 4.4}, {'connected_gene': 'ENSG00000258892', 'score': 0.37}, {'connected_gene': 'MAD2L1P1', 'score': 0.18}, {'connected_gene': 'MNAT1', 'score': 0.13}]
chr14	GH14I060720	60720449	60725012	2.28	[{'connected_gene': 'SIX4', 'score': 550.77}, {'connected_gene': 'GC14M060376', 'score': 550.77}, {'connected_gene': 'TRMT5', 'score': 14.77}, {'connected_gene': 'MNAT1', 'score': 13.92}, {'connected_gene': 'SCOCP1', 'score': 12.21}, {'connected_gene': 'RTN1', 'score': 6.58}, {'connected_gene': 'PPM1A', 'score': 1.47}]
chr14	GH14I060753	60753201	60754592	0.98	[{'connected_gene': 'SIX4', 'score': 17.3}, {'connected_gene': 'MNAT1', 'score': 0.37}, {'connected_gene': 'MAD2L1P1', 'score': 0.31}]
chr14	GH14I060815	60815543	60815692	0.89	[{'connected_gene': 'SIX4', 'score': 10.18}, {'connected_gene': 'MAD2L1P1', 'score': 0.28}, {'connected_gene': 'ENSG00000258892', 'score': 0.21}, {'connected_gene': 'MNAT1', 'score': 0.18}]
chr14	GH14I060790	60790243	60790392	0.2	[{'connected_gene': 'SIX4', 'score': 10.54}, {'connected_gene': 'MAD2L1P1', 'score': 0.39}, {'connected_gene': 'MNAT1', 'score': 0.22}, {'connected_gene': 'ENSG00000258892', 'score': 0.17}]
chr14	GH14I060775	60775383	60775572	0.38	[{'connected_gene': 'SIX4', 'score': 10.52}, {'connected_gene': 'MAD2L1P1', 'score': 0.77}, {'connected_gene': 'MNAT1', 'score': 0.26}]
chr14	GH14I060734	60734143	60737272	2.1	[{'connected_gene': 'MNAT1', 'score': 550.77}, {'connected_gene': 'TRMT5', 'score': 20.66}, {'connected_gene': 'PCNX4', 'score': 11.44}, {'connected_gene': 'SLC38A6', 'score': 10.07}, {'connected_gene': 'RBM8B', 'score': 9.72}, {'connected_gene': 'RNU6-398P', 'score': 9.67}, {'connected_gene': 'MAD2L1P1', 'score': 0.26}]
chr14	GH14I060670	60670312	60671769	0.2	[{'connected_gene': 'MNAT1', 'score': 10.93}, {'connected_gene': 'SIX4', 'score': 10.68}, {'connected_gene': 'SIX1', 'score': 0.39}, {'connected_gene': 'GC14M060376', 'score': 0.23}]
chr14	GH14I060760	60760058	60762095	0.66	[{'connected_gene': 'MNAT1', 'score': 11.19}, {'connected_gene': 'SIX4', 'score': 11.01}, {'connected_gene': 'TRMT5', 'score': 9.91}, {'connected_gene': 'SLC38A6', 'score': 9.91}, {'connected_gene': 'MAD2L1P1', 'score': 0.37}]
chr14	GH14I060819	60819683	60819852	0.78	[{'connected_gene': 'MNAT1', 'score': 10.58}, {'connected_gene': 'SLC38A6', 'score': 5.43}, {'connected_gene': 'MAD2L1P1', 'score': 0.28}, {'connected_gene': 'ENSG00000258892', 'score': 0.22}]
chr14	GH14I060777	60777271	60779117	0.38	[{'connected_gene': 'MAD2L1P1', 'score': 550.77}, {'connected_gene': 'SIX4', 'score': 10.52}, {'connected_gene': 'HIF1A-AS1', 'score': 4.4}, {'connected_gene': 'MNAT1', 'score': 0.26}]
chr14	GH14I060808	60808083	60808252	0.31	[{'connected_gene': 'MAD2L1P1', 'score': 0.31}, {'connected_gene': 'MNAT1', 'score': 0.19}, {'connected_gene': 'ENSG00000258892', 'score': 0.19}]
chr14	GH14I060806	60806163	60806192	0.43	[{'connected_gene': 'MAD2L1P1', 'score': 0.31}, {'connected_gene': 'MNAT1', 'score': 0.19}, {'connected_gene': 'ENSG00000258892', 'score': 0.19}]
chr14	GH14I060756	60756115	60759726	0.8	[{'connected_gene': 'SLC38A6', 'score': 15.03}, {'connected_gene': 'MNAT1', 'score': 11.22}, {'connected_gene': 'SIX4', 'score': 11.03}, {'connected_gene': 'TRMT5', 'score': 9.91}, {'connected_gene': 'MAD2L1P1', 'score': 0.34}]
chr14	GH14I060929	60929612	60932530	0.38	[{'connected_gene': 'RNU6-398P', 'score': 11.11}, {'connected_gene': 'SIX4', 'score': 9.92}, {'connected_gene': 'SRMP2', 'score': 0.39}, {'connected_gene': 'ENSG00000258656', 'score': 0.26}, {'connected_gene': 'ENSG00000258892', 'score': 0.23}, {'connected_gene': 'MNAT1', 'score': 0.08}]
chr14	GH14I060838	60838899	60840316	0.31	[{'connected_gene': 'RNU6-398P', 'score': 10.04}, {'connected_gene': 'ENSG00000258892', 'score': 0.26}, {'connected_gene': 'MAD2L1P1', 'score': 0.22}, {'connected_gene': 'MNAT1', 'score': 0.15}]
chr14	GH14I060845	60845601	60846200	0.54	[{'connected_gene': 'RNU6-398P', 'score': 10.05}, {'connected_gene': 'ENSG00000258892', 'score': 0.29}, {'connected_gene': 'MAD2L1P1', 'score': 0.2}, {'connected_gene': 'MNAT1', 'score': 0.14}]
chr14	GH14I060864	60864351	60864988	0.31	[{'connected_gene': 'ENSG00000258892', 'score': 0.37}, {'connected_gene': 'MAD2L1P1', 'score': 0.18}, {'connected_gene': 'MNAT1', 'score': 0.13}]
chr14	GH14I060964	60964608	60966152	0.54	[{'connected_gene': 'ENSG00000258656', 'score': 0.44}, {'connected_gene': 'SRMP2', 'score': 0.25}, {'connected_gene': 'ENSG00000258892', 'score': 0.17}, {'connected_gene': 'MNAT1', 'score': 0.07}]
chr14	GH14I060963	60963923	60964072	0.31	[{'connected_gene': 'ENSG00000258656', 'score': 0.44}, {'connected_gene': 'SRMP2', 'score': 0.26}, {'connected_gene': 'ENSG00000258892', 'score': 0.18}, {'connected_gene': 'MNAT1', 'score': 0.07}]