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
ENST00000403627	[[71203491, 71205907], [71223303, 71223403], [71228224, 71228506]]	[[71205667, 71205907], [71223303, 71223403], [71228224, 71228445]]
ENST00000405159	[[71203491, 71205907], [71208816, 71208879], [71223303, 71223403], [71228224, 71228510]]	[[71205667, 71205907], [71208816, 71208879], [71223303, 71223403], [71228224, 71228445]]
ENST00000583178	[[71205626, 71205907], [71223303, 71223403], [71232710, 71232892]]	None
ENST00000580032	[[71205646, 71205907], [71208816, 71208879], [71223303, 71223403], [71223860, 71223887]]	[[71205667, 71205907], [71208816, 71208867]]
ENST00000581110	[[71205704, 71205907], [71228224, 71228533]]	[[71205816, 71205907], [71228224, 71228445]]
ENST00000579872	[[71205713, 71205907], [71208816, 71208879], [71223303, 71223403], [71223774, 71223839]]	[[71205713, 71205907], [71208816, 71208879], [71223303, 71223403], [71223774, 71223794]]
ENST00000583024	[[71205743, 71205907], [71223303, 71223321], [71228224, 71228459]]	[[71205816, 71205907], [71223303, 71223321], [71228224, 71228445]]
NM_001289412	[[71203491, 71205907], [71208816, 71208879], [71223303, 71223403], [71223774, 71223856]]	[[71205667, 71205907], [71208816, 71208879], [71223303, 71223403], [71223774, 71223794]]
NM_001098832	[[71203491, 71205907], [71208816, 71208879], [71223303, 71223403], [71228224, 71228533]]	[[71205667, 71205907], [71208816, 71208879], [71223303, 71223403], [71228224, 71228445]]
NM_032837	[[71203491, 71205907], [71223303, 71223403], [71228224, 71228533]]	[[71205667, 71205907], [71223303, 71223403], [71228224, 71228445]]
NM_001289411	[[71203491, 71205907], [71223303, 71223321], [71228224, 71228533]]	[[71205816, 71205907], [71223303, 71223321], [71228224, 71228445]]
NM_001289410	[[71203491, 71205907], [71228224, 71228533]]	[[71205816, 71205907], [71228224, 71228445]]

Promoter

Chrom	Start	End	Description
chr17	71228255	71228275	CAGE_peak_3_at_FAM104A_5end
chr17	71228276	71228297	CAGE_peak_2_at_FAM104A_5end
chr17	71228357	71228491	CAGE_peak_1_at_FAM104A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I072725	72725542	72728451	1.31	[{'connected_gene': 'COG1', 'score': 11.12}, {'connected_gene': 'FAM104A', 'score': 10.06}, {'connected_gene': 'C17orf80', 'score': 10.06}, {'connected_gene': 'GC17P072715', 'score': 0.39}, {'connected_gene': 'GC17P072756', 'score': 0.31}, {'connected_gene': 'SLC39A11', 'score': 0.05}]
chr17	GH17I073191	73191423	73194212	2.04	[{'connected_gene': 'COG1', 'score': 550.77}, {'connected_gene': 'C17orf80', 'score': 26.49}, {'connected_gene': 'SSTR2', 'score': 11.34}, {'connected_gene': 'FAM104A', 'score': 10.96}, {'connected_gene': 'CDC42EP4', 'score': 9.96}, {'connected_gene': 'ENSG00000277728', 'score': 0.39}, {'connected_gene': 'ENSG00000264860', 'score': 0.31}]
chr17	GH17I074209	74209683	74216189	2.22	[{'connected_gene': 'MGC16275', 'score': 550.77}, {'connected_gene': 'TTYH2', 'score': 550.77}, {'connected_gene': 'NT5C', 'score': 28.89}, {'connected_gene': 'NUP85', 'score': 27.2}, {'connected_gene': 'C17orf80', 'score': 11.86}, {'connected_gene': 'NAT9', 'score': 9.83}, {'connected_gene': 'FAM104A', 'score': 5.15}, {'connected_gene': 'RPL38', 'score': 0.44}, {'connected_gene': 'GC17P074206', 'score': 0.44}]
chr17	GH17I073226	73226337	73230343	1.66	[{'connected_gene': 'FAM104A', 'score': 550.44}, {'connected_gene': 'COG1', 'score': 19.29}, {'connected_gene': 'C17orf80', 'score': 15.98}, {'connected_gene': 'GC17M073213', 'score': 0.39}]
chr17	GH17I073189	73189642	73189831	0.85	[{'connected_gene': 'SSTR2', 'score': 11.37}, {'connected_gene': 'C17orf80', 'score': 10.96}, {'connected_gene': 'FAM104A', 'score': 10.94}, {'connected_gene': 'CDC42EP4', 'score': 9.96}, {'connected_gene': 'COG1', 'score': 0.77}, {'connected_gene': 'GC17P073175', 'score': 0.39}, {'connected_gene': 'ENSG00000264860', 'score': 0.34}]
chr17	GH17I073346	73346378	73348323	0.86	[{'connected_gene': 'CPSF4L', 'score': 11.99}, {'connected_gene': 'CDC42EP4', 'score': 11.86}, {'connected_gene': 'FAM104A', 'score': 10.6}, {'connected_gene': 'C17orf80', 'score': 10.59}, {'connected_gene': 'GC17P073336', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.39}, {'connected_gene': 'SDK2', 'score': 0.06}]
chr17	GH17I073224	73224675	73225711	0.8	[{'connected_gene': 'C17orf80', 'score': 26.79}, {'connected_gene': 'COG1', 'score': 23.29}, {'connected_gene': 'FAM104A', 'score': 0.39}, {'connected_gene': 'GC17M073213', 'score': 0.39}]
chr17	GH17I073230	73230597	73233712	2.05	[{'connected_gene': 'C17orf80', 'score': 566.93}, {'connected_gene': 'FAM104A', 'score': 550.77}, {'connected_gene': 'COG1', 'score': 12.61}, {'connected_gene': 'GC17M073213', 'score': 0.37}]
chr17	GH17I073182	73182702	73182851	0.57	[{'connected_gene': 'C17orf80', 'score': 11.02}, {'connected_gene': 'FAM104A', 'score': 11.0}, {'connected_gene': 'CDC42EP4', 'score': 10.59}, {'connected_gene': 'SLC39A11', 'score': 10.44}, {'connected_gene': 'COG1', 'score': 0.44}, {'connected_gene': 'GC17P073175', 'score': 0.44}, {'connected_gene': 'ENSG00000264860', 'score': 0.37}]
chr17	GH17I073184	73184401	73184600	0.56	[{'connected_gene': 'C17orf80', 'score': 11.02}, {'connected_gene': 'FAM104A', 'score': 11.0}, {'connected_gene': 'CDC42EP4', 'score': 10.59}, {'connected_gene': 'SLC39A11', 'score': 10.44}, {'connected_gene': 'COG1', 'score': 0.44}, {'connected_gene': 'GC17P073175', 'score': 0.44}, {'connected_gene': 'ENSG00000264860', 'score': 0.37}]
chr17	GH17I073099	73099401	73099800	0.62	[{'connected_gene': 'C17orf80', 'score': 11.42}, {'connected_gene': 'FAM104A', 'score': 11.27}, {'connected_gene': 'SLC39A11', 'score': 0.44}, {'connected_gene': 'GC17M073164', 'score': 0.21}]
chr17	GH17I073211	73211673	73212531	0.52	[{'connected_gene': 'C17orf80', 'score': 26.92}, {'connected_gene': 'FAM104A', 'score': 11.65}, {'connected_gene': 'PIR44468', 'score': 0.77}, {'connected_gene': 'GC17M073213', 'score': 0.77}, {'connected_gene': 'GC17M073210', 'score': 0.77}]
chr17	GH17I073210	73210442	73210591	0.66	[{'connected_gene': 'C17orf80', 'score': 11.65}, {'connected_gene': 'FAM104A', 'score': 11.62}, {'connected_gene': 'PIR44468', 'score': 0.77}, {'connected_gene': 'GC17M073213', 'score': 0.77}, {'connected_gene': 'GC17M073210', 'score': 0.77}]
chr17	GH17I073298	73298092	73298890	0.98	[{'connected_gene': 'C17orf80', 'score': 16.14}, {'connected_gene': 'CPSF4L', 'score': 11.74}, {'connected_gene': 'FAM104A', 'score': 11.21}, {'connected_gene': 'GC17M073290', 'score': 0.77}, {'connected_gene': 'GC17M073288', 'score': 0.77}, {'connected_gene': 'CDC42EP4', 'score': 0.39}, {'connected_gene': 'GC17P073281', 'score': 0.37}, {'connected_gene': 'GC17M073289', 'score': 0.21}]
chr17	GH17I073826	73826172	73828911	0.86	[{'connected_gene': 'LINC00469', 'score': 550.77}, {'connected_gene': 'GC17P073827', 'score': 550.77}, {'connected_gene': 'C17orf80', 'score': 11.34}, {'connected_gene': 'FAM104A', 'score': 11.18}]
chr17	GH17I073277	73277777	73280115	1.3	[{'connected_gene': 'CDC42EP4', 'score': 12.32}, {'connected_gene': 'FAM104A', 'score': 10.99}, {'connected_gene': 'C17orf80', 'score': 10.97}, {'connected_gene': 'CPSF4L', 'score': 8.41}, {'connected_gene': 'COG1', 'score': 5.22}, {'connected_gene': 'GC17P073281', 'score': 0.77}, {'connected_gene': 'PIR39589', 'score': 0.44}]
chr17	GH17I073283	73283294	73285265	0.86	[{'connected_gene': 'CDC42EP4', 'score': 12.0}, {'connected_gene': 'FAM104A', 'score': 10.87}, {'connected_gene': 'C17orf80', 'score': 10.85}, {'connected_gene': 'CPSF4L', 'score': 9.56}, {'connected_gene': 'GC17P073281', 'score': 0.77}, {'connected_gene': 'GC17M073288', 'score': 0.37}]
chr17	GH17I073268	73268588	73268981	0.66	[{'connected_gene': 'CDC42EP4', 'score': 17.69}, {'connected_gene': 'FAM104A', 'score': 11.52}, {'connected_gene': 'C17orf80', 'score': 11.5}, {'connected_gene': 'PIR39589', 'score': 0.77}, {'connected_gene': 'CPSF4L', 'score': 0.44}]
chr17	GH17I073269	73268428	73268498	0.4	[{'connected_gene': 'CDC42EP4', 'score': 11.77}, {'connected_gene': 'FAM104A', 'score': 11.52}, {'connected_gene': 'C17orf80', 'score': 11.5}, {'connected_gene': 'PIR39589', 'score': 0.77}, {'connected_gene': 'CPSF4L', 'score': 0.44}]
chr17	GH17I073285	73285834	73286675	0.43	[{'connected_gene': 'CDC42EP4', 'score': 12.0}, {'connected_gene': 'FAM104A', 'score': 10.87}, {'connected_gene': 'C17orf80', 'score': 10.85}, {'connected_gene': 'GC17P073281', 'score': 0.77}, {'connected_gene': 'GC17M073288', 'score': 0.37}]
chr17	GH17I073288	73285502	73285830	0.52	[{'connected_gene': 'CDC42EP4', 'score': 12.0}, {'connected_gene': 'FAM104A', 'score': 10.87}, {'connected_gene': 'C17orf80', 'score': 10.85}, {'connected_gene': 'GC17P073281', 'score': 0.77}, {'connected_gene': 'GC17M073288', 'score': 0.37}]
chr17	GH17I073286	73286922	73287531	0.77	[{'connected_gene': 'CDC42EP4', 'score': 12.03}, {'connected_gene': 'FAM104A', 'score': 10.85}, {'connected_gene': 'C17orf80', 'score': 10.85}, {'connected_gene': 'GC17P073281', 'score': 0.44}, {'connected_gene': 'GC17M073290', 'score': 0.39}, {'connected_gene': 'GC17M073288', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.19}]
chr17	GH17I073348	73348502	73350156	0.78	[{'connected_gene': 'CDC42EP4', 'score': 12.07}, {'connected_gene': 'CPSF4L', 'score': 11.98}, {'connected_gene': 'FAM104A', 'score': 11.0}, {'connected_gene': 'C17orf80', 'score': 10.99}, {'connected_gene': 'SDK2', 'score': 6.28}, {'connected_gene': 'GC17P073336', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.39}]
chr17	GH17I073287	73287895	73295605	1.95	[{'connected_gene': 'CDC42EP4', 'score': 18.85}, {'connected_gene': 'CPSF4L', 'score': 17.01}, {'connected_gene': 'FAM104A', 'score': 11.23}, {'connected_gene': 'C17orf80', 'score': 11.22}, {'connected_gene': 'GC17P073281', 'score': 0.39}, {'connected_gene': 'GC17M073290', 'score': 0.39}, {'connected_gene': 'GC17M073288', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.2}]
chr17	GH17I073355	73355765	73358780	0.97	[{'connected_gene': 'CDC42EP4', 'score': 12.04}, {'connected_gene': 'C17orf80', 'score': 10.99}, {'connected_gene': 'FAM104A', 'score': 10.99}, {'connected_gene': 'COG1', 'score': 4.91}, {'connected_gene': 'GC17M073289', 'score': 0.77}, {'connected_gene': 'GC17P073336', 'score': 0.34}, {'connected_gene': 'SDK2', 'score': 0.06}]
chr17	GH17I073303	73303276	73313066	2.66	[{'connected_gene': 'CDC42EP4', 'score': 558.43}, {'connected_gene': 'C17orf80', 'score': 15.12}, {'connected_gene': 'FAM104A', 'score': 11.35}, {'connected_gene': 'SSTR2', 'score': 9.78}, {'connected_gene': 'GC17M073290', 'score': 0.44}, {'connected_gene': 'GC17M073289', 'score': 0.23}]
chr17	GH17I073358	73358802	73358951	0.4	[{'connected_gene': 'CDC42EP4', 'score': 11.45}, {'connected_gene': 'C17orf80', 'score': 10.32}, {'connected_gene': 'FAM104A', 'score': 10.32}, {'connected_gene': 'GC17M073289', 'score': 0.77}, {'connected_gene': 'GC17P073336', 'score': 0.34}, {'connected_gene': 'SDK2', 'score': 0.06}]
chr17	GH17I073215	73215562	73215671	0.49	[{'connected_gene': 'GC17M073213', 'score': 550.77}, {'connected_gene': 'COG1', 'score': 12.12}, {'connected_gene': 'C17orf80', 'score': 0.37}, {'connected_gene': 'FAM104A', 'score': 0.34}]
chr17	GH17I073299	73299361	73301051	0.65	[{'connected_gene': 'GC17M073290', 'score': 550.77}, {'connected_gene': 'GC17M073288', 'score': 550.77}, {'connected_gene': 'CPSF4L', 'score': 11.55}, {'connected_gene': 'FAM104A', 'score': 10.04}, {'connected_gene': 'C17orf80', 'score': 10.03}, {'connected_gene': 'CDC42EP4', 'score': 5.93}, {'connected_gene': 'GC17P073281', 'score': 0.37}, {'connected_gene': 'GC17M073289', 'score': 0.21}]
chr17	GH17I073271	73271103	73271621	0.72	[{'connected_gene': 'PIR39589', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 12.29}, {'connected_gene': 'FAM104A', 'score': 11.52}, {'connected_gene': 'C17orf80', 'score': 11.5}, {'connected_gene': 'CPSF4L', 'score': 0.44}]
chr17	GH17I073280	73280290	73280505	0.2	[{'connected_gene': 'GC17P073281', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 12.32}, {'connected_gene': 'FAM104A', 'score': 10.99}, {'connected_gene': 'C17orf80', 'score': 10.97}, {'connected_gene': 'CPSF4L', 'score': 9.19}, {'connected_gene': 'PIR39589', 'score': 0.44}]
chr17	GH17I073281	73281633	73282949	0.75	[{'connected_gene': 'GC17P073281', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 12.0}, {'connected_gene': 'FAM104A', 'score': 10.87}, {'connected_gene': 'C17orf80', 'score': 10.85}, {'connected_gene': 'CPSF4L', 'score': 9.75}, {'connected_gene': 'GC17M073288', 'score': 0.37}]
chr17	GH17I073272	73272600	73273164	0.86	[{'connected_gene': 'PIR39589', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 12.3}, {'connected_gene': 'FAM104A', 'score': 11.0}, {'connected_gene': 'C17orf80', 'score': 10.99}, {'connected_gene': 'GC17P073281', 'score': 0.44}]
chr17	GH17I073359	73359893	73361531	0.87	[{'connected_gene': 'GC17M073289', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 11.89}, {'connected_gene': 'C17orf80', 'score': 11.27}, {'connected_gene': 'FAM104A', 'score': 11.27}, {'connected_gene': 'GC17P073336', 'score': 0.31}, {'connected_gene': 'SDK2', 'score': 0.06}]