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
ENST00000394303	[[37329708, 37331910], [37333602, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37341383, 37341403], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351223], [37353664, 37353956]]	[[37331445, 37331910], [37333602, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37341383, 37341403], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351223], [37353664, 37353748]]
ENST00000539338	[[37330053, 37331910], [37333602, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37341383, 37341403], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37350136]]	None
ENST00000394310	[[37333388, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37341383, 37341403], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351223], [37353664, 37353955]]	[[37333497, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37341383, 37341403], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351223], [37353664, 37353748]]
ENST00000344140	[[37333388, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37342202, 37342357], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351223], [37353664, 37353956]]	[[37333497, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37342202, 37342357], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351223], [37353664, 37353748]]
ENST00000582544	[[37333669, 37333788], [37334236, 37334523]]	None
ENST00000577582	[[37340577, 37340636], [37341036, 37341117], [37342748, 37342825], [37343045, 37343182], [37343483, 37343692]]	None
ENST00000536613	[[37342675, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37349701, 37349746]]	None
ENST00000492737	[[37342794, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37349900, 37350077]]	None
ENST00000582877	[[37342794, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351324]]	None
ENST00000582414	[[37347867, 37348347], [37349701, 37349746]]	None
ENST00000577926	[[37348276, 37348347], [37349900, 37350050], [37351136, 37351223], [37351403, 37351522]]	None
NM_000723	[[37329708, 37331910], [37333602, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37341383, 37341403], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351223], [37353664, 37353956]]	[[37331445, 37331910], [37333602, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37341383, 37341403], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351223], [37353664, 37353748]]
NM_199247	[[37333388, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37342202, 37342357], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351223], [37353664, 37353956]]	[[37333497, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37342202, 37342357], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351223], [37353664, 37353748]]
NM_199248	[[37333388, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37341383, 37341403], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351223], [37353664, 37353956]]	[[37333497, 37333788], [37334236, 37334332], [37339965, 37340117], [37340283, 37340393], [37340577, 37340636], [37341036, 37341117], [37341383, 37341403], [37342748, 37342825], [37343045, 37343182], [37343731, 37343854], [37347726, 37347846], [37351136, 37351223], [37353664, 37353748]]

Promoter

Chrom	Start	End	Description
chr17	37349732	37349767	CAGE_peak_4_at_CACNB1_5end
chr17	37349776	37349785	CAGE_peak_7_at_CACNB1_5end
chr17	37353856	37353900	CAGE_peak_1_at_CACNB1_5end
chr17	37353907	37353930	CAGE_peak_2_at_CACNB1_5end
chr17	37353950	37353961	CAGE_peak_3_at_CACNB1_5end
chr17	37354093	37354113	CAGE_peak_6_at_CACNB1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I039356	39356586	39359090	0.87	[{'connected_gene': 'PGAP3', 'score': 10.5}, {'connected_gene': 'RPL19', 'score': 10.35}, {'connected_gene': 'CACNB1', 'score': 10.35}, {'connected_gene': 'ENSG00000214546', 'score': 7.58}, {'connected_gene': 'ENSG00000264968', 'score': 4.38}, {'connected_gene': 'GC17P039362', 'score': 0.44}, {'connected_gene': 'FBXL20', 'score': 0.26}, {'connected_gene': 'PIR53968', 'score': 0.15}]
chr17	GH17I039170	39170062	39171613	0.38	[{'connected_gene': 'CACNB1', 'score': 11.77}, {'connected_gene': 'RPL19', 'score': 11.77}, {'connected_gene': 'PSMB3', 'score': 9.84}, {'connected_gene': 'ARL5C', 'score': 8.76}, {'connected_gene': 'LOC105371768', 'score': 0.77}]
chr17	GH17I039175	39175868	39176017	0.74	[{'connected_gene': 'CACNB1', 'score': 12.72}, {'connected_gene': 'RPL19', 'score': 12.72}, {'connected_gene': 'LOC105371768', 'score': 0.77}]
chr17	GH17I039179	39177428	39177597	0.69	[{'connected_gene': 'CACNB1', 'score': 12.72}, {'connected_gene': 'RPL19', 'score': 12.72}, {'connected_gene': 'LOC105371768', 'score': 0.77}]
chr17	GH17I039191	39191168	39202827	2.29	[{'connected_gene': 'RPL19', 'score': 569.8}, {'connected_gene': 'CACNB1', 'score': 558.39}, {'connected_gene': 'CDK12', 'score': 30.44}, {'connected_gene': 'SNORA21', 'score': 23.48}, {'connected_gene': 'SNORD124', 'score': 19.25}, {'connected_gene': 'MED1', 'score': 15.04}, {'connected_gene': 'STARD3', 'score': 12.59}, {'connected_gene': 'RPL23', 'score': 12.13}, {'connected_gene': 'LOC105371762', 'score': 11.75}, {'connected_gene': 'MSL1', 'score': 11.11}, {'connected_gene': 'ENSG00000263466', 'score': 10.07}, {'connected_gene': 'STAC2', 'score': 9.73}, {'connected_gene': 'LOC105371768', 'score': 0.34}]
chr17	GH17I039244	39244828	39245017	0.83	[{'connected_gene': 'RPL19', 'score': 11.48}, {'connected_gene': 'CACNB1', 'score': 11.47}, {'connected_gene': 'GC17M039259', 'score': 0.44}, {'connected_gene': 'LOC101929578', 'score': 0.44}]
chr17	GH17I039245	39245108	39245257	0.8	[{'connected_gene': 'RPL19', 'score': 11.48}, {'connected_gene': 'CACNB1', 'score': 11.47}, {'connected_gene': 'GC17M039259', 'score': 0.44}, {'connected_gene': 'LOC101929578', 'score': 0.44}]
chr17	GH17I039177	39177847	39178534	0.74	[{'connected_gene': 'RPL19', 'score': 12.72}, {'connected_gene': 'LOC105371768', 'score': 0.77}, {'connected_gene': 'CACNB1', 'score': 0.37}]
chr17	GH17I039178	39178648	39178817	0.8	[{'connected_gene': 'RPL19', 'score': 12.72}, {'connected_gene': 'LOC105371768', 'score': 0.44}, {'connected_gene': 'CACNB1', 'score': 0.37}]
chr17	GH17I039593	39593076	39593242	0.48	[{'connected_gene': 'RAPGEFL1', 'score': 6.26}, {'connected_gene': 'THRA', 'score': 2.01}, {'connected_gene': 'TCAP', 'score': 1.73}, {'connected_gene': 'CACNB1', 'score': 1.3}, {'connected_gene': 'LOC105371771', 'score': 0.44}, {'connected_gene': 'LOC105371770', 'score': 0.34}]
chr17	GH17I039018	39018002	39019215	0.89	[{'connected_gene': 'FBXO47', 'score': 11.74}, {'connected_gene': 'ARL5C', 'score': 10.52}, {'connected_gene': 'MED1', 'score': 10.49}, {'connected_gene': 'CDK12', 'score': 10.44}, {'connected_gene': 'CACNB1', 'score': 10.05}, {'connected_gene': 'RPL19', 'score': 10.04}, {'connected_gene': 'STARD3', 'score': 9.69}, {'connected_gene': 'GC17M039013', 'score': 0.77}, {'connected_gene': 'ENSG00000277426', 'score': 0.77}, {'connected_gene': 'LOC105371767', 'score': 0.44}]
chr17	GH17I039169	39169201	39169400	0.4	[{'connected_gene': 'ARL5C', 'score': 550.77}, {'connected_gene': 'CACNB1', 'score': 11.77}, {'connected_gene': 'RPL19', 'score': 11.75}, {'connected_gene': 'PSMB3', 'score': 9.84}, {'connected_gene': 'LOC105371768', 'score': 0.77}]
chr17	GH17I039208	39208368	39210893	1.59	[{'connected_gene': 'STAC2', 'score': 21.25}, {'connected_gene': 'THRA', 'score': 15.83}, {'connected_gene': 'CACNB1', 'score': 4.84}, {'connected_gene': 'GC17P039212', 'score': 0.77}, {'connected_gene': 'RPL19', 'score': 0.44}]
chr17	GH17I039263	39263869	39264477	0.2	[{'connected_gene': 'STAC2', 'score': 11.86}, {'connected_gene': 'RPL19', 'score': 11.77}, {'connected_gene': 'CACNB1', 'score': 11.76}, {'connected_gene': 'PIR53968', 'score': 0.44}, {'connected_gene': 'GC17P039362', 'score': 0.15}, {'connected_gene': 'FBXL20', 'score': 0.12}]
chr17	GH17I039172	39172048	39172197	0.4	[{'connected_gene': 'LOC105371768', 'score': 550.77}, {'connected_gene': 'CACNB1', 'score': 11.77}, {'connected_gene': 'RPL19', 'score': 11.77}, {'connected_gene': 'PSMB3', 'score': 9.84}, {'connected_gene': 'ARL5C', 'score': 0.77}]
chr17	GH17I039173	39173628	39173777	0.4	[{'connected_gene': 'LOC105371768', 'score': 550.77}, {'connected_gene': 'CACNB1', 'score': 11.8}, {'connected_gene': 'RPL19', 'score': 11.77}, {'connected_gene': 'PSMB3', 'score': 9.84}, {'connected_gene': 'ARL5C', 'score': 5.64}]
chr17	GH17I039174	39174110	39175677	1.09	[{'connected_gene': 'LOC105371768', 'score': 550.77}, {'connected_gene': 'CACNB1', 'score': 12.72}, {'connected_gene': 'RPL19', 'score': 12.7}, {'connected_gene': 'PSMB3', 'score': 9.84}, {'connected_gene': 'TBC1D3', 'score': 6.26}, {'connected_gene': 'ARL5C', 'score': 5.62}]
chr17	GH17I039237	39236569	39239282	1	[{'connected_gene': 'LOC101929578', 'score': 550.77}, {'connected_gene': 'RPL19', 'score': 12.22}, {'connected_gene': 'CACNB1', 'score': 12.2}, {'connected_gene': 'PGAP3', 'score': 7.06}, {'connected_gene': 'THRA', 'score': 4.91}, {'connected_gene': 'GC17M039259', 'score': 0.37}, {'connected_gene': 'GC17P039212', 'score': 0.34}]
chr17	GH17I039239	39239688	39239857	0.75	[{'connected_gene': 'LOC101929578', 'score': 550.77}, {'connected_gene': 'RPL19', 'score': 12.22}, {'connected_gene': 'CACNB1', 'score': 12.2}, {'connected_gene': 'GC17M039259', 'score': 0.39}]
chr17	GH17I039271	39271088	39271237	0.69	[{'connected_gene': 'SNORD124', 'score': 14.79}, {'connected_gene': 'CACNB1', 'score': 10.8}, {'connected_gene': 'RPL19', 'score': 10.8}, {'connected_gene': 'PGAP3', 'score': 8.01}, {'connected_gene': 'PIR53968', 'score': 0.39}, {'connected_gene': 'GC17P039362', 'score': 0.16}, {'connected_gene': 'FBXL20', 'score': 0.12}]
chr17	GH17I039013	39013954	39017599	1.17	[{'connected_gene': 'GC17M039013', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 29.54}, {'connected_gene': 'CDK12', 'score': 28.94}, {'connected_gene': 'SNORA21', 'score': 22.7}, {'connected_gene': 'LOC105371762', 'score': 21.02}, {'connected_gene': 'FBXO47', 'score': 11.37}, {'connected_gene': 'RPL23', 'score': 11.2}, {'connected_gene': 'ARL5C', 'score': 10.51}, {'connected_gene': 'STARD3', 'score': 10.5}, {'connected_gene': 'RPL19', 'score': 10.25}, {'connected_gene': 'CACNB1', 'score': 10.25}, {'connected_gene': 'CWC25', 'score': 9.86}, {'connected_gene': 'ENSG00000266588', 'score': 5.4}, {'connected_gene': 'ENSG00000277426', 'score': 0.44}, {'connected_gene': 'LOC105371767', 'score': 0.39}]
chr17	GH17I039410	39410111	39410718	0.2	[{'connected_gene': 'GC17M039410', 'score': 550.77}, {'connected_gene': 'CDK12', 'score': 10.81}, {'connected_gene': 'CACNB1', 'score': 9.92}, {'connected_gene': 'RPL19', 'score': 9.92}, {'connected_gene': 'GC17P039415', 'score': 0.44}, {'connected_gene': 'MED1', 'score': 0.26}]