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
ENST00000546455	[[47473385, 47473508], [47497895, 47497978], [47610004, 47610472], [47628789, 47630443]]	[[47628846, 47630145]]
ENST00000432328	[[47610051, 47610472], [47628789, 47630439]]	[[47628846, 47630145]]
ENST00000548348	[[47610369, 47610472], [47629155, 47629775]]	[[47629206, 47629775]]
ENST00000549500	[[47610380, 47610472], [47617310, 47617455], [47628789, 47629348]]	[[47628846, 47629348]]
ENST00000549630	[[47617283, 47617455], [47628789, 47629349]]	[[47628846, 47629349]]
ENST00000551777	[[47617327, 47617455], [47617706, 47617822], [47628789, 47629021]]	[[47628846, 47629021]]
NM_001281429	[[47473385, 47473508], [47497895, 47497978], [47628789, 47630446]]	[[47628846, 47630145]]
NM_138371	[[47473385, 47473508], [47497895, 47497978], [47610004, 47610472], [47628789, 47630446]]	[[47628846, 47630145]]

Promoter

Chrom	Start	End	Description
chr12	47473339	47473356	CAGE_peak_4_at_FAM113B_5end
chr12	47473369	47473438	CAGE_peak_2_at_FAM113B_5end
chr12	47610249	47610260	CAGE_peak_7_at_FAM113B_5end
chr12	47610261	47610303	CAGE_peak_3_at_FAM113B_5end
chr12	47610315	47610386	CAGE_peak_1_at_FAM113B_5end
chr12	47617314	47617338	CAGE_peak_5_at_FAM113B_5end
chr12	47617402	47617434	CAGE_peak_8_at_FAM113B_5end
chr12	47628787	47628808	CAGE_peak_10_at_FAM113B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I047359	47359802	47363010	1.63	[{'connected_gene': 'PCED1B', 'score': 4.99}, {'connected_gene': 'HDAC7', 'score': 4.45}, {'connected_gene': 'MIR4494', 'score': 0.77}, {'connected_gene': 'LINC02416', 'score': 0.44}]
chr12	GH12I047098	47098697	47100125	0.2	[{'connected_gene': 'PCED1B', 'score': 0.37}, {'connected_gene': 'AMIGO2', 'score': 0.37}, {'connected_gene': 'LOC643058', 'score': 0.28}, {'connected_gene': 'GC12M047038', 'score': 0.14}]
chr12	GH12I047077	47077075	47089332	2.72	[{'connected_gene': 'PCED1B', 'score': 550.77}, {'connected_gene': 'AMIGO2', 'score': 550.77}, {'connected_gene': 'HDAC7', 'score': 12.01}, {'connected_gene': 'LOC643058', 'score': 0.22}, {'connected_gene': 'GC12M047038', 'score': 0.12}]
chr12	GH12I047076	47076801	47077000	0.51	[{'connected_gene': 'PCED1B', 'score': 0.77}, {'connected_gene': 'AMIGO2', 'score': 0.77}, {'connected_gene': 'ENSG00000274723', 'score': 0.14}, {'connected_gene': 'GC12M047038', 'score': 0.12}]
chr12	GH12I047184	47184378	47185517	0.43	[{'connected_gene': 'PCED1B', 'score': 6.21}, {'connected_gene': 'MIR4698', 'score': 0.77}, {'connected_gene': 'GC12M047038', 'score': 0.31}, {'connected_gene': 'LOC643058', 'score': 0.25}]
chr12	GH12I047068	47068486	47069561	0.66	[{'connected_gene': 'PCED1B', 'score': 0.39}, {'connected_gene': 'ENSG00000274723', 'score': 0.15}, {'connected_gene': 'GC12M047038', 'score': 0.11}]
chr12	GH12I047071	47071358	47071547	0.79	[{'connected_gene': 'PCED1B', 'score': 0.44}, {'connected_gene': 'ENSG00000274723', 'score': 0.15}, {'connected_gene': 'GC12M047038', 'score': 0.11}]
chr12	GH12I047066	47066218	47067518	0.4	[{'connected_gene': 'PCED1B', 'score': 0.39}, {'connected_gene': 'ENSG00000274723', 'score': 0.15}, {'connected_gene': 'GC12M047038', 'score': 0.11}]
chr12	GH12I047055	47055978	47056127	0.76	[{'connected_gene': 'PCED1B', 'score': 0.34}, {'connected_gene': 'ENSG00000274723', 'score': 0.17}, {'connected_gene': 'GC12M047038', 'score': 0.1}]
chr12	GH12I046998	46998208	46999617	0.52	[{'connected_gene': 'SLC38A4', 'score': 9.97}, {'connected_gene': 'ENSG00000274723', 'score': 0.31}, {'connected_gene': 'PCED1B', 'score': 0.18}]
chr12	GH12I047021	47021200	47021601	0.94	[{'connected_gene': 'SLC38A4', 'score': 10.65}, {'connected_gene': 'ENSG00000274723', 'score': 0.23}, {'connected_gene': 'PCED1B', 'score': 0.22}]
chr12	GH12I047017	47017581	47019095	0.63	[{'connected_gene': 'SLC38A4', 'score': 9.7}, {'connected_gene': 'ENSG00000274723', 'score': 0.25}, {'connected_gene': 'PCED1B', 'score': 0.21}]
chr12	GH12I047013	47013818	47015289	0.46	[{'connected_gene': 'SLC38A4', 'score': 9.1}, {'connected_gene': 'ENSG00000274723', 'score': 0.26}, {'connected_gene': 'PCED1B', 'score': 0.2}]
chr12	GH12I047022	47021612	47023461	0.71	[{'connected_gene': 'SLC38A4', 'score': 10.98}, {'connected_gene': 'AMIGO2', 'score': 10.79}, {'connected_gene': 'ENSG00000274723', 'score': 0.23}, {'connected_gene': 'PCED1B', 'score': 0.22}]
chr12	GH12I047102	47102874	47104005	0.89	[{'connected_gene': 'AMIGO2', 'score': 11.99}, {'connected_gene': 'PCED1B', 'score': 0.34}, {'connected_gene': 'LOC643058', 'score': 0.29}, {'connected_gene': 'GC12M047038', 'score': 0.14}]
chr12	GH12I047106	47106199	47109073	0.6	[{'connected_gene': 'AMIGO2', 'score': 12.39}, {'connected_gene': 'PCED1B', 'score': 0.31}, {'connected_gene': 'LOC643058', 'score': 0.29}, {'connected_gene': 'GC12M047038', 'score': 0.14}]
chr12	GH12I047201	47201739	47203221	0.38	[{'connected_gene': 'AMIGO2', 'score': 16.42}, {'connected_gene': 'PCED1B', 'score': 5.15}, {'connected_gene': 'GC12M047038', 'score': 0.39}, {'connected_gene': 'GC12P047188', 'score': 0.39}]
chr12	GH12I047115	47115084	47115854	0.38	[{'connected_gene': 'AMIGO2', 'score': 24.63}, {'connected_gene': 'LOC643058', 'score': 0.34}, {'connected_gene': 'PCED1B', 'score': 0.28}, {'connected_gene': 'GC12M047038', 'score': 0.15}]
chr12	GH12I047155	47155065	47157032	0.99	[{'connected_gene': 'AMIGO2', 'score': 9.65}, {'connected_gene': 'LOC643058', 'score': 0.37}, {'connected_gene': 'MIR4698', 'score': 0.29}, {'connected_gene': 'GC12M047038', 'score': 0.22}, {'connected_gene': 'PCED1B', 'score': 0.18}]
chr12	GH12I047038	47038034	47039403	0.83	[{'connected_gene': 'AMIGO2', 'score': 11.34}, {'connected_gene': 'ENSG00000199566', 'score': 10.64}, {'connected_gene': 'SLC38A4', 'score': 5.02}, {'connected_gene': 'PCED1B', 'score': 0.26}, {'connected_gene': 'ENSG00000274723', 'score': 0.2}, {'connected_gene': 'GC12M047038', 'score': 0.1}]
chr12	GH12I047033	47032658	47032887	0.64	[{'connected_gene': 'AMIGO2', 'score': 11.67}, {'connected_gene': 'ENSG00000199566', 'score': 11.23}, {'connected_gene': 'SLC38A4', 'score': 6.77}, {'connected_gene': 'PCED1B', 'score': 0.25}, {'connected_gene': 'ENSG00000274723', 'score': 0.21}]
chr12	GH12I047032	47032928	47035003	0.94	[{'connected_gene': 'AMIGO2', 'score': 11.67}, {'connected_gene': 'ENSG00000199566', 'score': 11.23}, {'connected_gene': 'SLC38A4', 'score': 10.69}, {'connected_gene': 'PCED1B', 'score': 0.25}, {'connected_gene': 'ENSG00000274723', 'score': 0.21}]
chr12	GH12I047197	47197643	47201440	0.65	[{'connected_gene': 'AMIGO2', 'score': 16.2}, {'connected_gene': 'PCED1B-AS1', 'score': 6.26}, {'connected_gene': 'ENSG00000258181', 'score': 5.27}, {'connected_gene': 'PCED1B', 'score': 4.8}, {'connected_gene': 'GC12M047038', 'score': 0.39}, {'connected_gene': 'GC12P047188', 'score': 0.39}]
chr12	GH12I047204	47204578	47210783	1.6	[{'connected_gene': 'AMIGO2', 'score': 17.08}, {'connected_gene': 'PCED1B-AS1', 'score': 6.47}, {'connected_gene': 'PCED1B', 'score': 1.77}, {'connected_gene': 'GC12M047038', 'score': 0.44}, {'connected_gene': 'GC12P047188', 'score': 0.37}]
chr12	GH12I047188	47188584	47194907	1.29	[{'connected_gene': 'AMIGO2', 'score': 16.0}, {'connected_gene': 'ENSG00000199566', 'score': 10.7}, {'connected_gene': 'ENSG00000258181', 'score': 6.82}, {'connected_gene': 'PCED1B-AS1', 'score': 5.68}, {'connected_gene': 'GC12P047188', 'score': 0.77}, {'connected_gene': 'GC12M047038', 'score': 0.34}, {'connected_gene': 'PCED1B', 'score': 0.14}]
chr12	GH12I047229	47229618	47229767	0.67	[{'connected_gene': 'AMIGO2', 'score': 11.16}, {'connected_gene': 'ENSG00000199566', 'score': 10.52}, {'connected_gene': 'PCED1B-AS1', 'score': 0.39}, {'connected_gene': 'GC12P047244', 'score': 0.39}, {'connected_gene': 'PCED1B', 'score': 0.1}]
chr12	GH12I047221	47220543	47225364	1.39	[{'connected_gene': 'SENP1', 'score': 29.48}, {'connected_gene': 'LOC102723757', 'score': 12.6}, {'connected_gene': 'AMIGO2', 'score': 11.16}, {'connected_gene': 'ENSG00000199566', 'score': 10.52}, {'connected_gene': 'RPAP3', 'score': 9.71}, {'connected_gene': 'ENSG00000258181', 'score': 9.33}, {'connected_gene': 'PCED1B', 'score': 5.74}, {'connected_gene': 'PCED1B-AS1', 'score': 0.44}, {'connected_gene': 'GC12P047244', 'score': 0.34}]
chr12	GH12I047211	47211091	47219744	1.7	[{'connected_gene': 'PCED1B-AS1', 'score': 556.25}, {'connected_gene': 'GC12M047038', 'score': 550.77}, {'connected_gene': 'SENP1', 'score': 28.21}, {'connected_gene': 'AMIGO2', 'score': 16.85}, {'connected_gene': 'LOC102723757', 'score': 12.59}, {'connected_gene': 'ENSG00000258181', 'score': 11.99}, {'connected_gene': 'RPAP3', 'score': 9.71}, {'connected_gene': 'PCED1B', 'score': 8.39}]
chr12	GH12I047093	47093359	47098389	1.05	[{'connected_gene': 'ENSG00000258181', 'score': 4.65}, {'connected_gene': 'PCED1B', 'score': 0.37}, {'connected_gene': 'AMIGO2', 'score': 0.37}, {'connected_gene': 'LOC643058', 'score': 0.26}, {'connected_gene': 'GC12M047038', 'score': 0.13}]
chr12	GH12I047220	47220066	47220451	0.68	[{'connected_gene': 'ENSG00000258181', 'score': 8.87}, {'connected_gene': 'PCED1B', 'score': 4.21}, {'connected_gene': 'PCED1B-AS1', 'score': 0.77}, {'connected_gene': 'GC12P047244', 'score': 0.34}]
chr12	GH12I046983	46983578	46983687	0.2	[{'connected_gene': 'ENSG00000274723', 'score': 0.39}, {'connected_gene': 'PCED1B', 'score': 0.15}]
chr12	GH12I046984	46984000	46984227	0.86	[{'connected_gene': 'ENSG00000274723', 'score': 0.39}, {'connected_gene': 'PCED1B', 'score': 0.15}]
chr12	GH12I047390	47390983	47392286	0.99	[{'connected_gene': 'ENSG00000199566', 'score': 11.52}, {'connected_gene': 'AMIGO2', 'score': 10.97}, {'connected_gene': 'PCED1B', 'score': 1.49}, {'connected_gene': 'LINC02156', 'score': 0.34}, {'connected_gene': 'MIR4494', 'score': 0.31}]
chr12	GH12I047303	47302858	47304536	0.38	[{'connected_gene': 'ENSG00000199566', 'score': 11.54}, {'connected_gene': 'AMIGO2', 'score': 11.09}, {'connected_gene': 'PCED1B', 'score': 6.47}, {'connected_gene': 'LOC105369747', 'score': 0.77}, {'connected_gene': 'LOC105369746', 'score': 0.34}]
chr12	GH12I047394	47394552	47394869	0.57	[{'connected_gene': 'ENSG00000199566', 'score': 11.03}, {'connected_gene': 'AMIGO2', 'score': 10.92}, {'connected_gene': 'PHBP18', 'score': 4.29}, {'connected_gene': 'PCED1B', 'score': 1.43}, {'connected_gene': 'LINC02156', 'score': 0.34}, {'connected_gene': 'MIR4494', 'score': 0.29}]
chr12	GH12I047376	47376915	47379658	1.17	[{'connected_gene': 'ENSG00000199566', 'score': 12.25}, {'connected_gene': 'AMIGO2', 'score': 10.75}, {'connected_gene': 'LINC02416', 'score': 5.46}, {'connected_gene': 'PCED1B', 'score': 4.41}, {'connected_gene': 'MIR4494', 'score': 0.39}, {'connected_gene': 'LINC02156', 'score': 0.28}]
chr12	GH12I047234	47234658	47234807	0.43	[{'connected_gene': 'GC12P047244', 'score': 0.44}, {'connected_gene': 'PCED1B-AS1', 'score': 0.37}, {'connected_gene': 'PCED1B', 'score': 0.1}]
chr12	GH12I047235	47235870	47237128	1.02	[{'connected_gene': 'ENSG00000258181', 'score': 7.2}, {'connected_gene': 'GC12P047244', 'score': 0.44}, {'connected_gene': 'PCED1B-AS1', 'score': 0.34}, {'connected_gene': 'PCED1B', 'score': 0.1}]