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
ENST00000266581	[[47469489, 47472848], [47473244, 47473648]]	[[47471216, 47472785]]
ENST00000550413	[[47470280, 47472848], [47472924, 47473031], [47473244, 47473425]]	[[47471216, 47472785]]
ENST00000321382	[[47470382, 47470657], [47471203, 47472848], [47473244, 47473557]]	[[47471216, 47472785]]
ENST00000429635	[[47470382, 47472848], [47472929, 47473031], [47473244, 47473734]]	[[47471216, 47472785]]
NM_181847	[[47469489, 47472848], [47473244, 47473734]]	[[47471216, 47472785]]
NM_001143668	[[47470382, 47472848], [47472929, 47473031], [47473244, 47473734]]	[[47471216, 47472785]]

Promoter

Chrom	Start	End	Description
chr12	47472578	47472594	CAGE_peak_14_at_AMIGO2_5end
chr12	47472684	47472703	CAGE_peak_12_at_AMIGO2_5end
chr12	47473298	47473334	CAGE_peak_2_at_AMIGO2_5end
chr12	47473458	47473463	CAGE_peak_13_at_AMIGO2_5end
chr12	47473475	47473484	CAGE_peak_9_at_AMIGO2_5end
chr12	47473520	47473544	CAGE_peak_3_at_AMIGO2_5end
chr12	47473557	47473568	CAGE_peak_8_at_AMIGO2_5end
chr12	47473642	47473653	CAGE_peak_7_at_AMIGO2_5end
chr12	47473707	47473757	CAGE_peak_1_at_AMIGO2_5end
chr12	47473898	47473903	CAGE_peak_11_at_AMIGO2_5end
chr12	47473904	47473917	CAGE_peak_6_at_AMIGO2_5end
chr12	47473920	47473939	CAGE_peak_5_at_AMIGO2_5end
chr12	47474192	47474251	CAGE_peak_4_at_AMIGO2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	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	GH12I047404	47404568	47404748	0.22	[{'connected_gene': 'AMIGO2', 'score': 11.59}, {'connected_gene': 'RPAP3', 'score': 2.1}, {'connected_gene': 'LINC02156', 'score': 0.39}, {'connected_gene': 'MIR4494', 'score': 0.26}]
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	GH12I047401	47401228	47401580	1.12	[{'connected_gene': 'AMIGO2', 'score': 11.59}, {'connected_gene': 'LINC02156', 'score': 0.39}, {'connected_gene': 'MIR4494', 'score': 0.28}]
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	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	GH12I047396	47396798	47398427	1.09	[{'connected_gene': 'ENSG00000199566', 'score': 11.01}, {'connected_gene': 'AMIGO2', 'score': 10.92}, {'connected_gene': 'SLC38A4', 'score': 5.46}, {'connected_gene': 'PFKM', 'score': 4.8}, {'connected_gene': 'LINC02156', 'score': 0.37}, {'connected_gene': 'MIR4494', 'score': 0.29}]
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	GH12I047397	47396200	47396401	0.4	[{'connected_gene': 'ENSG00000199566', 'score': 11.01}, {'connected_gene': 'AMIGO2', 'score': 10.92}, {'connected_gene': 'LINC02156', 'score': 0.37}, {'connected_gene': 'MIR4494', 'score': 0.29}]
chr12	GH12I047398	47396718	47396790	0.4	[{'connected_gene': 'ENSG00000199566', 'score': 11.01}, {'connected_gene': 'AMIGO2', 'score': 10.92}, {'connected_gene': 'LINC02156', 'score': 0.37}, {'connected_gene': 'MIR4494', 'score': 0.29}]
chr12	GH12I047392	47392771	47394499	1.49	[{'connected_gene': 'ENSG00000199566', 'score': 11.03}, {'connected_gene': 'AMIGO2', 'score': 10.92}, {'connected_gene': 'LINC02156', 'score': 0.34}, {'connected_gene': 'MIR4494', 'score': 0.31}]
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	GH12I047302	47302438	47302587	0.38	[{'connected_gene': 'ENSG00000199566', 'score': 11.35}, {'connected_gene': 'AMIGO2', 'score': 11.02}, {'connected_gene': 'LOC105369747', 'score': 0.77}, {'connected_gene': 'LOC105369746', 'score': 0.34}]
chr12	GH12I047301	47301626	47302406	0.46	[{'connected_gene': 'ENSG00000199566', 'score': 11.35}, {'connected_gene': 'AMIGO2', 'score': 11.02}, {'connected_gene': 'LOC105369747', 'score': 0.44}, {'connected_gene': 'LOC105369746', 'score': 0.34}]
chr12	GH12I047318	47318678	47319830	0.31	[{'connected_gene': 'ENSG00000199566', 'score': 12.63}, {'connected_gene': 'AMIGO2', 'score': 10.91}, {'connected_gene': 'LOC105369747', 'score': 0.39}, {'connected_gene': 'PPIAP45', 'score': 0.34}]
chr12	GH12I047316	47316435	47317800	0.98	[{'connected_gene': 'ENSG00000199566', 'score': 12.63}, {'connected_gene': 'AMIGO2', 'score': 10.91}, {'connected_gene': 'LOC105369747', 'score': 0.44}, {'connected_gene': 'PPIAP45', 'score': 0.34}]
chr12	GH12I047312	47312386	47313381	0.71	[{'connected_gene': 'ENSG00000199566', 'score': 12.31}, {'connected_gene': 'AMIGO2', 'score': 11.05}, {'connected_gene': 'LOC105369747', 'score': 0.44}, {'connected_gene': 'PPIAP45', 'score': 0.31}]
chr12	GH12I047249	47249162	47250558	1.06	[{'connected_gene': 'ENSG00000258181', 'score': 574.3}, {'connected_gene': 'AMIGO2', 'score': 11.43}, {'connected_gene': 'PCED1B-AS1', 'score': 4.39}, {'connected_gene': 'ENSG00000276454', 'score': 0.37}, {'connected_gene': 'LOC105369746', 'score': 0.31}]