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
ENST00000444713	[[26437663, 26437911], [26440782, 26441084], [26448327, 26448615]]	[[26440799, 26441084], [26448327, 26448615]]
ENST00000374271	[[26438327, 26438406], [26438950, 26439141], [26440782, 26441084], [26448327, 26452034]]	[[26440799, 26441084], [26448327, 26449068]]
ENST00000374269	[[26438339, 26438406], [26440782, 26441084], [26448327, 26450524]]	[[26440799, 26441084], [26448327, 26449068]]
NM_001243532	[[26437655, 26437911], [26440782, 26441084], [26448327, 26452039]]	[[26440799, 26441084], [26448327, 26449068]]
NM_152835	[[26438267, 26438406], [26440782, 26441084], [26448327, 26452039]]	[[26440799, 26441084], [26448327, 26449068]]
NM_001243533	[[26438267, 26438406], [26438950, 26439141], [26440782, 26441084], [26448327, 26452039]]	[[26440799, 26441084], [26448327, 26449068]]

Promoter

Chrom	Start	End	Description
chr1	26437631	26437665	CAGE_peak_2_at_PDIK1L_5end
chr1	26437674	26437719	CAGE_peak_3_at_PDIK1L_5end
chr1	26438289	26438352	CAGE_peak_1_at_PDIK1L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I026028	26028610	26028759	0.67	[{'connected_gene': 'TRIM63', 'score': 11.76}, {'connected_gene': 'FAM110D', 'score': 10.41}, {'connected_gene': 'RNU6-110P', 'score': 10.36}, {'connected_gene': 'PDIK1L', 'score': 10.31}, {'connected_gene': 'ZNF593', 'score': 9.99}, {'connected_gene': 'ENSG00000236782', 'score': 9.99}, {'connected_gene': 'LIN28A', 'score': 9.97}, {'connected_gene': 'HMGN2', 'score': 8.42}, {'connected_gene': 'EXTL1', 'score': 0.44}, {'connected_gene': 'LOC101928216', 'score': 0.44}]
chr1	GH01I026077	26077822	26080724	1.12	[{'connected_gene': 'TRIM63', 'score': 23.68}, {'connected_gene': 'SLC30A2', 'score': 11.4}, {'connected_gene': 'PDIK1L', 'score': 11.03}, {'connected_gene': 'ENSG00000252190', 'score': 10.93}, {'connected_gene': 'ENSG00000252691', 'score': 10.93}, {'connected_gene': 'GPN2', 'score': 10.85}, {'connected_gene': 'ZNF593', 'score': 10.81}, {'connected_gene': 'ENSG00000236782', 'score': 10.81}, {'connected_gene': 'FAM110D', 'score': 10.76}, {'connected_gene': 'RSRP1', 'score': 10.46}, {'connected_gene': 'CRYBG2', 'score': 9.93}, {'connected_gene': 'HMGN2', 'score': 8.85}, {'connected_gene': 'GC01P026102', 'score': 0.34}]
chr1	GH01I026082	26082747	26084068	0.72	[{'connected_gene': 'TRIM63', 'score': 22.48}, {'connected_gene': 'SLC30A2', 'score': 11.28}, {'connected_gene': 'PDIK1L', 'score': 11.05}, {'connected_gene': 'ENSG00000252190', 'score': 10.92}, {'connected_gene': 'ENSG00000252691', 'score': 10.92}, {'connected_gene': 'ZNF593', 'score': 10.82}, {'connected_gene': 'ENSG00000236782', 'score': 10.82}, {'connected_gene': 'FAM110D', 'score': 10.73}, {'connected_gene': 'CRYBG2', 'score': 9.93}, {'connected_gene': 'HMGN2', 'score': 8.62}, {'connected_gene': 'GC01P026102', 'score': 0.37}]
chr1	GH01I026081	26081169	26082237	0.92	[{'connected_gene': 'TRIM63', 'score': 21.29}, {'connected_gene': 'HMGN2', 'score': 18.25}, {'connected_gene': 'ENSG00000261349', 'score': 13.99}, {'connected_gene': 'GPN2', 'score': 13.36}, {'connected_gene': 'SLC30A2', 'score': 11.28}, {'connected_gene': 'PDIK1L', 'score': 11.05}, {'connected_gene': 'ENSG00000252190', 'score': 10.92}, {'connected_gene': 'ENSG00000252691', 'score': 10.92}, {'connected_gene': 'ZNF593', 'score': 10.82}, {'connected_gene': 'ENSG00000236782', 'score': 10.81}, {'connected_gene': 'FAM110D', 'score': 10.73}, {'connected_gene': 'ARID1A', 'score': 10.02}, {'connected_gene': 'CRYBG2', 'score': 9.93}, {'connected_gene': 'GC01P026102', 'score': 0.34}]
chr1	GH01I026145	26145001	26145485	1.07	[{'connected_gene': 'TRIM63', 'score': 19.72}, {'connected_gene': 'PDIK1L', 'score': 12.45}, {'connected_gene': 'ZNF593', 'score': 11.34}, {'connected_gene': 'ENSG00000236782', 'score': 11.31}, {'connected_gene': 'SLC30A2', 'score': 10.78}, {'connected_gene': 'UBXN11', 'score': 9.66}, {'connected_gene': 'CD52', 'score': 9.66}, {'connected_gene': 'FAM110D', 'score': 0.39}, {'connected_gene': 'LOC105376886', 'score': 0.37}]
chr1	GH01I026138	26138326	26139763	0.74	[{'connected_gene': 'TRIM63', 'score': 37.71}, {'connected_gene': 'PDIK1L', 'score': 12.69}, {'connected_gene': 'ZNF593', 'score': 11.36}, {'connected_gene': 'ENSG00000236782', 'score': 11.36}, {'connected_gene': 'SLC30A2', 'score': 10.78}, {'connected_gene': 'EXTL1', 'score': 10.45}, {'connected_gene': 'UBXN11', 'score': 9.66}, {'connected_gene': 'CD52', 'score': 9.66}, {'connected_gene': 'LOC105376886', 'score': 0.39}, {'connected_gene': 'FAM110D', 'score': 0.37}]
chr1	GH01I026119	26119900	26120599	0.63	[{'connected_gene': 'TRIM63', 'score': 27.37}, {'connected_gene': 'PDIK1L', 'score': 0.44}, {'connected_gene': 'LOC105376886', 'score': 0.44}]
chr1	GH01I026104	26104447	26105400	1.26	[{'connected_gene': 'TRIM63', 'score': 20.15}, {'connected_gene': 'GC01P026102', 'score': 0.77}, {'connected_gene': 'PDIK1L', 'score': 0.44}]
chr1	GH01I026274	26274321	26293466	2.81	[{'connected_gene': 'SH3BGRL3', 'score': 553.26}, {'connected_gene': 'HMGN2', 'score': 63.5}, {'connected_gene': 'ARID1A', 'score': 57.37}, {'connected_gene': 'CD52', 'score': 38.95}, {'connected_gene': 'LOC101928324', 'score': 30.09}, {'connected_gene': 'NPM1P39', 'score': 29.55}, {'connected_gene': 'UBXN11', 'score': 28.89}, {'connected_gene': 'CEP85', 'score': 23.48}, {'connected_gene': 'GPN2', 'score': 21.79}, {'connected_gene': 'LIN28A', 'score': 21.36}, {'connected_gene': 'TRIM63', 'score': 18.25}, {'connected_gene': 'FAM110D', 'score': 17.18}, {'connected_gene': 'SELENON', 'score': 11.96}, {'connected_gene': 'CRYBG2', 'score': 11.09}, {'connected_gene': 'CNKSR1', 'score': 11.05}, {'connected_gene': 'RPS6KA1', 'score': 10.99}, {'connected_gene': 'LOC101928728', 'score': 10.8}, {'connected_gene': 'RPL17P9', 'score': 10.77}, {'connected_gene': 'RSRP1', 'score': 10.43}, {'connected_gene': 'ZNF593', 'score': 9.87}, {'connected_gene': 'ENSG00000236782', 'score': 9.87}, {'connected_gene': 'MTFR1L', 'score': 3.37}, {'connected_gene': 'PDIK1L', 'score': 2.4}, {'connected_gene': 'PIGV', 'score': 1.51}, {'connected_gene': 'PIR48459', 'score': 0.44}]
chr1	GH01I026121	26121368	26129096	1.77	[{'connected_gene': 'ARID1A', 'score': 80.27}, {'connected_gene': 'HMGN2', 'score': 65.22}, {'connected_gene': 'LOC101928324', 'score': 53.24}, {'connected_gene': 'ENSG00000261349', 'score': 41.21}, {'connected_gene': 'TRIM63', 'score': 37.76}, {'connected_gene': 'SYF2', 'score': 32.28}, {'connected_gene': 'GPN2', 'score': 30.56}, {'connected_gene': 'ZNF593', 'score': 29.32}, {'connected_gene': 'LOC101928728', 'score': 23.9}, {'connected_gene': 'RPL17P9', 'score': 21.54}, {'connected_gene': 'FAM110D', 'score': 12.58}, {'connected_gene': 'PDIK1L', 'score': 11.67}, {'connected_gene': 'GPATCH3', 'score': 11.42}, {'connected_gene': 'ENSG00000236782', 'score': 11.31}, {'connected_gene': 'SLC30A2', 'score': 10.69}, {'connected_gene': 'PIGV', 'score': 10.45}, {'connected_gene': 'EXTL1', 'score': 10.14}, {'connected_gene': 'STMN1', 'score': 9.99}, {'connected_gene': 'CNKSR1', 'score': 6.54}, {'connected_gene': 'UBXN11', 'score': 4.33}, {'connected_gene': 'PAFAH2', 'score': 4.26}, {'connected_gene': 'CD52', 'score': 3.47}, {'connected_gene': 'RPS6KA1', 'score': 2.87}, {'connected_gene': 'CEP85', 'score': 2.12}, {'connected_gene': 'MTFR1L', 'score': 1.28}, {'connected_gene': 'LOC105376886', 'score': 0.77}]
chr1	GH01I026084	26084135	26084548	0.72	[{'connected_gene': 'SLC30A2', 'score': 11.28}, {'connected_gene': 'PDIK1L', 'score': 11.05}, {'connected_gene': 'ENSG00000252190', 'score': 10.92}, {'connected_gene': 'ENSG00000252691', 'score': 10.92}, {'connected_gene': 'ZNF593', 'score': 10.82}, {'connected_gene': 'ENSG00000236782', 'score': 10.82}, {'connected_gene': 'FAM110D', 'score': 10.74}, {'connected_gene': 'CRYBG2', 'score': 9.93}, {'connected_gene': 'HMGN2', 'score': 8.62}, {'connected_gene': 'TRIM63', 'score': 0.37}, {'connected_gene': 'GC01P026102', 'score': 0.37}]
chr1	GH01I025770	25770044	25776102	1.65	[{'connected_gene': 'MAN1C1', 'score': 13.22}, {'connected_gene': 'SELENON', 'score': 6.49}, {'connected_gene': 'LDLRAP1', 'score': 4.63}, {'connected_gene': 'MTFR1L', 'score': 3.78}, {'connected_gene': 'PDIK1L', 'score': 1.77}, {'connected_gene': 'GC01P025766', 'score': 0.44}]
chr1	GH01I026391	26391401	26391801	0.97	[{'connected_gene': 'CRYBG2', 'score': 11.74}, {'connected_gene': 'UBXN11', 'score': 10.7}, {'connected_gene': 'CD52', 'score': 10.7}, {'connected_gene': 'PDIK1L', 'score': 10.14}, {'connected_gene': 'HMGN2', 'score': 10.04}, {'connected_gene': 'FAM110D', 'score': 9.9}, {'connected_gene': 'ENSG00000236782', 'score': 9.78}, {'connected_gene': 'ZNF593', 'score': 9.77}, {'connected_gene': 'SLC30A2', 'score': 9.72}, {'connected_gene': 'TRIM63', 'score': 9.47}, {'connected_gene': 'ZNF683', 'score': 0.37}, {'connected_gene': 'LIN28A', 'score': 0.37}]
chr1	GH01I026348	26348810	26361055	2.18	[{'connected_gene': 'CRYBG2', 'score': 564.12}, {'connected_gene': 'CD52', 'score': 20.75}, {'connected_gene': 'UBXN11', 'score': 19.1}, {'connected_gene': 'CEP85', 'score': 16.9}, {'connected_gene': 'CNKSR1', 'score': 14.27}, {'connected_gene': 'LIN28A', 'score': 11.33}, {'connected_gene': 'DHDDS', 'score': 10.84}, {'connected_gene': 'SLC30A2', 'score': 10.06}, {'connected_gene': 'TRIM63', 'score': 10.03}, {'connected_gene': 'EXTL1', 'score': 9.16}, {'connected_gene': 'FAM110D', 'score': 7.57}, {'connected_gene': 'ZNF683', 'score': 7.44}, {'connected_gene': 'CATSPER4', 'score': 7.11}, {'connected_gene': 'PDIK1L', 'score': 5.57}, {'connected_gene': 'GC01M026348', 'score': 0.44}]
chr1	GH01I025754	25754383	25755402	0.94	[{'connected_gene': 'TMEM50A', 'score': 4.45}, {'connected_gene': 'STMN1', 'score': 2.78}, {'connected_gene': 'PDIK1L', 'score': 1.23}, {'connected_gene': 'FAM110D', 'score': 1.19}, {'connected_gene': 'GC01P025766', 'score': 0.39}, {'connected_gene': 'ENSG00000233478', 'score': 0.15}, {'connected_gene': 'MAN1C1', 'score': 0.12}]
chr1	GH01I026110	26110263	26114503	2.27	[{'connected_gene': 'PDIK1L', 'score': 550.77}, {'connected_gene': 'TRIM63', 'score': 26.95}, {'connected_gene': 'GPN2', 'score': 23.81}, {'connected_gene': 'GPATCH3', 'score': 20.79}, {'connected_gene': 'ARID1A', 'score': 19.69}, {'connected_gene': 'LOC101928324', 'score': 13.16}, {'connected_gene': 'HMGN2', 'score': 11.86}, {'connected_gene': 'LOC101928728', 'score': 11.69}, {'connected_gene': 'SH3BGRL3', 'score': 10.57}, {'connected_gene': 'ENSG00000261349', 'score': 10.56}, {'connected_gene': 'RPS6KA1', 'score': 9.96}, {'connected_gene': 'UBXN11', 'score': 5.54}, {'connected_gene': 'ZNF593', 'score': 5.37}, {'connected_gene': 'LOC105376886', 'score': 0.37}]
chr1	GH01I026137	26137227	26137939	0.31	[{'connected_gene': 'PDIK1L', 'score': 12.69}, {'connected_gene': 'FAM110D', 'score': 12.62}, {'connected_gene': 'ZNF593', 'score': 11.36}, {'connected_gene': 'ENSG00000236782', 'score': 11.36}, {'connected_gene': 'TRIM63', 'score': 10.61}, {'connected_gene': 'SLC30A2', 'score': 10.57}, {'connected_gene': 'EXTL1', 'score': 9.69}, {'connected_gene': 'LOC105376886', 'score': 0.44}]
chr1	GH01I026141	26141601	26142400	0.46	[{'connected_gene': 'PDIK1L', 'score': 12.45}, {'connected_gene': 'ZNF593', 'score': 11.31}, {'connected_gene': 'ENSG00000236782', 'score': 11.31}, {'connected_gene': 'TRIM63', 'score': 11.14}, {'connected_gene': 'SLC30A2', 'score': 10.78}, {'connected_gene': 'UBXN11', 'score': 9.66}, {'connected_gene': 'CD52', 'score': 9.66}, {'connected_gene': 'LOC105376886', 'score': 0.39}, {'connected_gene': 'FAM110D', 'score': 0.37}]
chr1	GH01I026010	26010116	26011599	0.93	[{'connected_gene': 'PDIK1L', 'score': 6.77}, {'connected_gene': 'ZNF683', 'score': 5.34}, {'connected_gene': 'PAQR7', 'score': 1.33}, {'connected_gene': 'ENSG00000252691', 'score': 0.77}, {'connected_gene': 'GC01M026017', 'score': 0.44}, {'connected_gene': 'LOC101928216', 'score': 0.31}]
chr1	GH01I026114	26114690	26114879	0.88	[{'connected_gene': 'PDIK1L', 'score': 0.77}, {'connected_gene': 'LOC105376886', 'score': 0.39}]
chr1	GH01I026200	26200355	26202995	1.42	[{'connected_gene': 'CNKSR1', 'score': 42.13}, {'connected_gene': 'ARID1A', 'score': 35.93}, {'connected_gene': 'HMGN2', 'score': 34.05}, {'connected_gene': 'SYF2', 'score': 28.65}, {'connected_gene': 'ENSG00000261349', 'score': 24.18}, {'connected_gene': 'TRIM63', 'score': 12.64}, {'connected_gene': 'RPL17P9', 'score': 10.74}, {'connected_gene': 'RSRP1', 'score': 10.44}, {'connected_gene': 'GPN2', 'score': 10.2}, {'connected_gene': 'LOC101928324', 'score': 9.76}, {'connected_gene': 'FAM110D', 'score': 8.89}, {'connected_gene': 'ZNF593', 'score': 8.33}, {'connected_gene': 'CD52', 'score': 3.29}, {'connected_gene': 'MTFR1L', 'score': 2.08}, {'connected_gene': 'PDIK1L', 'score': 1.67}, {'connected_gene': 'LOC101928303', 'score': 0.44}, {'connected_gene': 'CATSPER4', 'score': 0.39}]
chr1	GH01I026499	26499764	26502597	1.86	[{'connected_gene': 'LOC101928324', 'score': 23.17}, {'connected_gene': 'ARID1A', 'score': 21.9}, {'connected_gene': 'GPATCH3', 'score': 21.1}, {'connected_gene': 'DHDDS', 'score': 14.76}, {'connected_gene': 'RPS6KA1', 'score': 13.61}, {'connected_gene': 'NPM1P39', 'score': 12.95}, {'connected_gene': 'LOC101928728', 'score': 12.47}, {'connected_gene': 'PIGV', 'score': 11.97}, {'connected_gene': 'HMGN2', 'score': 11.76}, {'connected_gene': 'MIR1976', 'score': 11.32}, {'connected_gene': 'MAP3K6', 'score': 9.93}, {'connected_gene': 'PAQR7', 'score': 9.87}, {'connected_gene': 'ENSG00000226698', 'score': 9.71}, {'connected_gene': 'LIN28A', 'score': 9.49}, {'connected_gene': 'NUDC', 'score': 9.32}, {'connected_gene': 'CEP85', 'score': 1.75}, {'connected_gene': 'UBXN11', 'score': 1.69}, {'connected_gene': 'PDIK1L', 'score': 1.17}, {'connected_gene': 'GC01M026522', 'score': 0.37}, {'connected_gene': 'PIR42462', 'score': 0.31}]
chr1	GH01I025640	25640691	25644084	1.04	[{'connected_gene': 'ENSG00000225643', 'score': 6.7}, {'connected_gene': 'MTFR1L', 'score': 4.74}, {'connected_gene': 'RSRP1', 'score': 4.52}, {'connected_gene': 'LDLRAP1', 'score': 4.33}, {'connected_gene': 'MAN1C1', 'score': 3.76}, {'connected_gene': 'PDIK1L', 'score': 2.19}, {'connected_gene': 'SYF2', 'score': 1.56}, {'connected_gene': 'MACO1', 'score': 1.51}, {'connected_gene': 'ENSG00000233478', 'score': 0.37}]