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
ENST00000374282	[[26286257, 26288574], [26299048, 26299203], [26300970, 26301141], [26303172, 26303264], [26308854, 26308968], [26310436, 26310578], [26310950, 26311019], [26314721, 26314818], [26315938, 26316092], [26317217, 26317354], [26324515, 26324648]]	[[26288479, 26288574], [26299048, 26299203], [26300970, 26301141], [26303172, 26303264], [26308854, 26308968], [26310436, 26310578], [26310950, 26311019], [26314721, 26314818], [26315938, 26316092], [26317217, 26317307]]
ENST00000374284	[[26287260, 26288574], [26299048, 26299203], [26300970, 26301141], [26303172, 26303264], [26308854, 26308968], [26310436, 26310578], [26310950, 26311019], [26314721, 26314818], [26315938, 26316092], [26317217, 26317412], [26324515, 26324535]]	[[26288479, 26288574], [26299048, 26299203], [26300970, 26301141], [26303172, 26303264], [26308854, 26308968], [26310436, 26310578], [26310950, 26311019], [26314721, 26314818], [26315938, 26316092], [26317217, 26317307]]
ENST00000493892	[[26308854, 26308968], [26310436, 26310578], [26310950, 26311019], [26317217, 26317354], [26324515, 26324547]]	None
ENST00000464540	[[26308855, 26308968], [26310436, 26310578], [26310950, 26311019], [26324515, 26324608]]	None
ENST00000476611	[[26308894, 26308968], [26310436, 26310600]]	None
ENST00000439092	[[26310446, 26310593], [26310950, 26311019], [26314721, 26314818], [26315938, 26316092], [26317217, 26317354], [26323938, 26324112]]	[[26310446, 26310593], [26310950, 26311019], [26314721, 26314818], [26315938, 26316092], [26317217, 26317307]]
ENST00000441420	[[26310492, 26310578], [26310950, 26311019], [26314721, 26314818], [26315938, 26316092], [26317217, 26317354], [26323938, 26324112], [26324515, 26324546]]	[[26310492, 26310578], [26310950, 26311019], [26314721, 26314818], [26315938, 26316092], [26317217, 26317307]]
NM_000437	[[26286257, 26288574], [26299048, 26299203], [26300970, 26301141], [26303172, 26303264], [26308854, 26308968], [26310436, 26310578], [26310950, 26311019], [26314721, 26314818], [26315938, 26316092], [26317217, 26317354], [26324515, 26324648]]	[[26288479, 26288574], [26299048, 26299203], [26300970, 26301141], [26303172, 26303264], [26308854, 26308968], [26310436, 26310578], [26310950, 26311019], [26314721, 26314818], [26315938, 26316092], [26317217, 26317307]]

Promoter

Chrom	Start	End	Description
chr1	26317321	26317401	CAGE_peak_2_at_PAFAH2_5end
chr1	26317408	26317429	CAGE_peak_5_at_PAFAH2_5end
chr1	26324534	26324589	CAGE_peak_1_at_PAFAH2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I026003	26003406	26003592	0.53	[{'connected_gene': 'TRIM63', 'score': 10.58}, {'connected_gene': 'ZNF683', 'score': 6.88}, {'connected_gene': 'CRYBG2', 'score': 2.17}, {'connected_gene': 'PAFAH2', 'score': 0.77}, {'connected_gene': 'ENSG00000252190', 'score': 0.77}]
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	GH01I026043	26043454	26050655	1.8	[{'connected_gene': 'SLC30A2', 'score': 550.77}, {'connected_gene': 'LOC105376910', 'score': 550.77}, {'connected_gene': 'ARID1A', 'score': 13.05}, {'connected_gene': 'PAFAH2', 'score': 12.3}, {'connected_gene': 'TRIM63', 'score': 12.24}, {'connected_gene': 'SELENON', 'score': 11.94}, {'connected_gene': 'LOC101928324', 'score': 10.52}, {'connected_gene': 'HMGN2', 'score': 9.81}, {'connected_gene': 'GPN2', 'score': 9.81}, {'connected_gene': 'CNKSR1', 'score': 6.7}]
chr1	GH01I025888	25888626	25896640	1.42	[{'connected_gene': 'SELENON', 'score': 48.55}, {'connected_gene': 'MTFR1L', 'score': 30.92}, {'connected_gene': 'ARID1A', 'score': 13.05}, {'connected_gene': 'PAFAH2', 'score': 12.6}, {'connected_gene': 'ENSG00000252190', 'score': 11.66}, {'connected_gene': 'ENSG00000252691', 'score': 11.66}, {'connected_gene': 'EXTL1', 'score': 11.23}, {'connected_gene': 'RNU6-110P', 'score': 10.89}, {'connected_gene': 'SLC30A2', 'score': 10.71}, {'connected_gene': 'TRIM63', 'score': 10.32}, {'connected_gene': 'HMGN2', 'score': 9.8}, {'connected_gene': 'PAQR7', 'score': 7.18}, {'connected_gene': 'RPL39P7', 'score': 0.77}, {'connected_gene': 'PIR46219', 'score': 0.39}, {'connected_gene': 'STMN1', 'score': 0.39}]
chr1	GH01I025897	25897344	25901814	0.64	[{'connected_gene': 'MTFR1L', 'score': 26.96}, {'connected_gene': 'SELENON', 'score': 11.96}, {'connected_gene': 'PAQR7', 'score': 11.95}, {'connected_gene': 'ENSG00000207302', 'score': 11.95}, {'connected_gene': 'PAFAH2', 'score': 11.88}, {'connected_gene': 'RNU6-110P', 'score': 10.87}, {'connected_gene': 'EXTL1', 'score': 10.83}, {'connected_gene': 'ENSG00000233478', 'score': 9.44}, {'connected_gene': 'PIR46219', 'score': 0.44}, {'connected_gene': 'STMN1', 'score': 0.44}, {'connected_gene': 'RPL39P7', 'score': 0.39}]
chr1	GH01I025995	25995761	26000145	2.37	[{'connected_gene': 'PAFAH2', 'score': 563.73}, {'connected_gene': 'ARID1A', 'score': 90.84}, {'connected_gene': 'HMGN2', 'score': 62.25}, {'connected_gene': 'LOC101928324', 'score': 38.15}, {'connected_gene': 'ENSG00000261349', 'score': 37.17}, {'connected_gene': 'SYF2', 'score': 32.48}, {'connected_gene': 'GPN2', 'score': 28.16}, {'connected_gene': 'ZNF593', 'score': 27.4}, {'connected_gene': 'LOC101928728', 'score': 23.0}, {'connected_gene': 'RPL17P9', 'score': 19.82}, {'connected_gene': 'SELENON', 'score': 12.13}, {'connected_gene': 'PAQR7', 'score': 11.76}, {'connected_gene': 'ENSG00000207302', 'score': 11.76}, {'connected_gene': 'EXTL1', 'score': 11.54}, {'connected_gene': 'TRIM63', 'score': 10.56}, {'connected_gene': 'PIGV', 'score': 10.45}, {'connected_gene': 'RSRP1', 'score': 10.44}, {'connected_gene': 'PIR35611', 'score': 0.34}, {'connected_gene': 'GC01M025975', 'score': 0.34}]
chr1	GH01I026051	26051010	26051159	0.72	[{'connected_gene': 'PAFAH2', 'score': 11.72}, {'connected_gene': 'SLC30A2', 'score': 0.77}, {'connected_gene': 'TRIM63', 'score': 0.37}]
chr1	GH01I025957	25957102	25957975	0.43	[{'connected_gene': 'PAFAH2', 'score': 7.5}, {'connected_gene': 'SLC30A2', 'score': 4.34}, {'connected_gene': 'GC01P025966', 'score': 0.44}, {'connected_gene': 'STMN1', 'score': 0.23}]
chr1	GH01I025970	25970636	25972467	0.89	[{'connected_gene': 'PAFAH2', 'score': 13.75}, {'connected_gene': 'STMN1', 'score': 11.1}, {'connected_gene': 'EXTL1', 'score': 10.47}, {'connected_gene': 'GC01M025975', 'score': 0.77}, {'connected_gene': 'GC01P025967', 'score': 0.77}, {'connected_gene': 'PIR35611', 'score': 0.77}]
chr1	GH01I025952	25952530	25953496	0.31	[{'connected_gene': 'PAFAH2', 'score': 9.35}, {'connected_gene': 'GC01P025966', 'score': 0.39}, {'connected_gene': 'STMN1', 'score': 0.25}]
chr1	GH01I025958	25958134	25959108	0.46	[{'connected_gene': 'PAFAH2', 'score': 9.72}, {'connected_gene': 'GC01P025966', 'score': 0.44}, {'connected_gene': 'STMN1', 'score': 0.23}]
chr1	GH01I026054	26054889	26055529	0.52	[{'connected_gene': 'PAFAH2', 'score': 11.62}, {'connected_gene': 'EXTL1', 'score': 10.98}, {'connected_gene': 'FAM110D', 'score': 10.52}, {'connected_gene': 'RNU6-110P', 'score': 9.97}, {'connected_gene': 'CRYBG2', 'score': 9.74}, {'connected_gene': 'ZNF593', 'score': 9.05}, {'connected_gene': 'ENSG00000236782', 'score': 9.04}, {'connected_gene': 'SLC30A2', 'score': 0.44}, {'connected_gene': 'TRIM63', 'score': 0.39}]
chr1	GH01I025988	25988103	25995413	1.53	[{'connected_gene': 'PAFAH2', 'score': 13.88}, {'connected_gene': 'RNU6-110P', 'score': 11.74}, {'connected_gene': 'STMN1', 'score': 11.19}, {'connected_gene': 'EXTL1', 'score': 11.04}, {'connected_gene': 'SLC30A2', 'score': 10.49}, {'connected_gene': 'TRIM63', 'score': 10.39}, {'connected_gene': 'FAM110D', 'score': 9.93}, {'connected_gene': 'PIR35611', 'score': 0.37}, {'connected_gene': 'GC01M025975', 'score': 0.37}]
chr1	GH01I025985	25985017	25986845	0.2	[{'connected_gene': 'PAFAH2', 'score': 13.22}, {'connected_gene': 'GC01M025975', 'score': 0.39}, {'connected_gene': 'PIR35611', 'score': 0.39}]
chr1	GH01I025977	25977670	25979399	0.68	[{'connected_gene': 'PAFAH2', 'score': 13.78}, {'connected_gene': 'GC01M025975', 'score': 0.77}, {'connected_gene': 'PIR35611', 'score': 0.77}]
chr1	GH01I025983	25983597	25984948	0.2	[{'connected_gene': 'PAFAH2', 'score': 13.85}, {'connected_gene': 'GC01M025975', 'score': 0.44}, {'connected_gene': 'PIR35611', 'score': 0.44}]
chr1	GH01I025926	25926835	25926936	0.61	[{'connected_gene': 'ZNF683', 'score': 2.75}, {'connected_gene': 'EXTL1', 'score': 2.54}, {'connected_gene': 'PAFAH2', 'score': 1.31}, {'connected_gene': 'STMN1', 'score': 0.37}, {'connected_gene': 'GC01P025966', 'score': 0.28}]
chr1	GH01I026015	26015115	26023178	1.63	[{'connected_gene': 'EXTL1', 'score': 550.77}, {'connected_gene': 'GC01M026017', 'score': 550.77}, {'connected_gene': 'ARID1A', 'score': 18.19}, {'connected_gene': 'PAFAH2', 'score': 16.11}, {'connected_gene': 'HMGN2', 'score': 15.61}, {'connected_gene': 'SYF2', 'score': 13.48}, {'connected_gene': 'ENSG00000261349', 'score': 11.39}, {'connected_gene': 'LOC101928324', 'score': 10.99}, {'connected_gene': 'RPL17P9', 'score': 10.84}, {'connected_gene': 'LOC101928216', 'score': 0.37}]
chr1	GH01I026052	26052827	26054793	0.92	[{'connected_gene': 'EXTL1', 'score': 11.0}, {'connected_gene': 'FAM110D', 'score': 10.51}, {'connected_gene': 'RNU6-110P', 'score': 9.97}, {'connected_gene': 'CRYBG2', 'score': 9.74}, {'connected_gene': 'PAFAH2', 'score': 9.44}, {'connected_gene': 'ZNF593', 'score': 9.04}, {'connected_gene': 'ENSG00000236782', 'score': 9.04}, {'connected_gene': 'TMEM50A', 'score': 4.51}, {'connected_gene': 'SLC30A2', 'score': 0.44}, {'connected_gene': 'TRIM63', 'score': 0.39}]
chr1	GH01I026034	26034601	26039413	1.45	[{'connected_gene': 'LOC101928216', 'score': 550.77}, {'connected_gene': 'TRIM63', 'score': 21.71}, {'connected_gene': 'PAFAH2', 'score': 14.38}, {'connected_gene': 'ENSG00000252190', 'score': 11.1}, {'connected_gene': 'ENSG00000252691', 'score': 11.1}, {'connected_gene': 'GPATCH3', 'score': 10.84}, {'connected_gene': 'FAM110D', 'score': 10.8}, {'connected_gene': 'ARID1A', 'score': 10.75}, {'connected_gene': 'ZNF593', 'score': 10.28}, {'connected_gene': 'ENSG00000236782', 'score': 10.28}, {'connected_gene': 'LIN28A', 'score': 9.23}, {'connected_gene': 'CNKSR1', 'score': 6.56}, {'connected_gene': 'ENSG00000225643', 'score': 5.42}, {'connected_gene': 'SLC30A2', 'score': 0.44}, {'connected_gene': 'LOC105376910', 'score': 0.44}, {'connected_gene': 'EXTL1', 'score': 0.37}]
chr1	GH01I025968	25968451	25969470	0.51	[{'connected_gene': 'GC01P025967', 'score': 550.77}, {'connected_gene': 'PAFAH2', 'score': 13.77}, {'connected_gene': 'ENSG00000252190', 'score': 11.25}, {'connected_gene': 'ENSG00000252691', 'score': 11.25}, {'connected_gene': 'EXTL1', 'score': 10.41}, {'connected_gene': 'SLC30A2', 'score': 10.07}, {'connected_gene': 'GC01M025975', 'score': 0.44}, {'connected_gene': 'PIR35611', 'score': 0.44}]