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
ENST00000421564	[[60718821, 60718945], [60733727, 60733804], [60734932, 60735017], [60736491, 60736636], [60737807, 60737987], [60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60754412], [60755224, 60757533]]	[[60718876, 60718945], [60733727, 60733804], [60734932, 60735017], [60736491, 60736636], [60737807, 60737987], [60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60754264]]
ENST00000450482	[[60718850, 60718945], [60729336, 60729521], [60733727, 60733998], [60734932, 60735017], [60736491, 60736636]]	[[60733843, 60733998], [60734932, 60735017], [60736491, 60736636]]
ENST00000331758	[[60718850, 60718945], [60733727, 60733804], [60734932, 60735017], [60736491, 60736636], [60737807, 60737987], [60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60757540]]	[[60718876, 60718945], [60733727, 60733804], [60734932, 60735017], [60736491, 60736636], [60737807, 60737987], [60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60754264]]
ENST00000370848	[[60733843, 60733998], [60734932, 60735017], [60736491, 60736636], [60737807, 60737987], [60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60754412], [60755224, 60757533]]	[[60733843, 60733998], [60734932, 60735017], [60736491, 60736636], [60737807, 60737987], [60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60754264]]
ENST00000491916	[[60737603, 60737987], [60738513, 60738585]]	None
ENST00000492466	[[60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60754412], [60755224, 60755340]]	[[60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60754264]]
NR_125981	[[60718775, 60718945], [60733727, 60733804], [60734932, 60735017], [60736491, 60736636], [60737807, 60737987], [60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60754412], [60755224, 60757566]]	None
NM_198935	[[60718775, 60718945], [60733727, 60733804], [60734932, 60735017], [60736491, 60736636], [60737807, 60737987], [60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60757566]]	[[60718876, 60718945], [60733727, 60733804], [60734932, 60735017], [60736491, 60736636], [60737807, 60737987], [60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60754264]]
NM_001301778	[[60718775, 60718945], [60729336, 60729521], [60733727, 60733804], [60734932, 60735017], [60736571, 60736636], [60737807, 60737987], [60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60757566]]	[[60737824, 60737987], [60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60754264]]
NR_125980	[[60718775, 60718945], [60729336, 60729521], [60733727, 60733998], [60734932, 60735017], [60736491, 60736636], [60737807, 60737987], [60738513, 60738678], [60739200, 60739302], [60740477, 60740570], [60747737, 60747857], [60749572, 60749700], [60754237, 60754412], [60755224, 60757566]]	None

Promoter

Chrom	Start	End	Description
chr20	60718555	60718579	CAGE_peak_2_at_SS18L1_5end
chr20	60718785	60718853	CAGE_peak_1_at_SS18L1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I062041	62041760	62044161	0.89	[{'connected_gene': 'TAF4', 'score': 12.08}, {'connected_gene': 'LSM14B', 'score': 11.77}, {'connected_gene': 'SS18L1', 'score': 11.17}, {'connected_gene': 'PSMA7', 'score': 11.17}, {'connected_gene': 'CDH4', 'score': 8.07}, {'connected_gene': 'RPL17P48', 'score': 0.77}, {'connected_gene': 'MIR3195', 'score': 0.34}]
chr20	GH20I062793	62793333	62798318	2.62	[{'connected_gene': 'MRGBP', 'score': 560.75}, {'connected_gene': 'LOC105372716', 'score': 550.77}, {'connected_gene': 'OGFR', 'score': 23.89}, {'connected_gene': 'DIDO1', 'score': 19.55}, {'connected_gene': 'YTHDF1', 'score': 13.31}, {'connected_gene': 'RPS21', 'score': 13.28}, {'connected_gene': 'LSM14B', 'score': 13.18}, {'connected_gene': 'LAMA5', 'score': 11.83}, {'connected_gene': 'RTEL1', 'score': 10.66}, {'connected_gene': 'SS18L1', 'score': 9.72}, {'connected_gene': 'DPH3P1', 'score': 1.95}]
chr20	GH20I062352	62352563	62371667	2.81	[{'connected_gene': 'LAMA5', 'score': 580.43}, {'connected_gene': 'LAMA5-AS1', 'score': 24.46}, {'connected_gene': 'ARFGAP1', 'score': 15.55}, {'connected_gene': 'YTHDF1', 'score': 12.39}, {'connected_gene': 'MTG2', 'score': 8.95}, {'connected_gene': 'CABLES2', 'score': 8.74}, {'connected_gene': 'OSBPL2', 'score': 8.56}, {'connected_gene': 'BHLHE23', 'score': 5.94}, {'connected_gene': 'MRGBP', 'score': 3.35}, {'connected_gene': 'ADRM1', 'score': 3.31}, {'connected_gene': 'RPS21', 'score': 2.12}, {'connected_gene': 'RBBP8NL', 'score': 1.96}, {'connected_gene': 'PSMA7', 'score': 1.85}, {'connected_gene': 'SLCO4A1', 'score': 1.82}, {'connected_gene': 'NTSR1', 'score': 1.47}, {'connected_gene': 'SS18L1', 'score': 1.19}, {'connected_gene': 'TAF4', 'score': 1.12}]
chr20	GH20I062156	62156703	62157620	1.02	[{'connected_gene': 'MTG2', 'score': 7.01}, {'connected_gene': 'SS18L1', 'score': 5.78}]
chr20	GH20I062181	62181759	62184792	2.3	[{'connected_gene': 'MTG2', 'score': 555.66}, {'connected_gene': 'DIDO1', 'score': 16.47}, {'connected_gene': 'RPS21', 'score': 13.32}, {'connected_gene': 'LAMA5', 'score': 11.87}, {'connected_gene': 'SS18L1', 'score': 5.72}, {'connected_gene': 'CABLES2', 'score': 1.49}, {'connected_gene': 'GATA5', 'score': 1.2}, {'connected_gene': 'PIR52239', 'score': 0.37}]
chr20	GH20I062140	62140740	62145070	2.56	[{'connected_gene': 'SS18L1', 'score': 563.59}, {'connected_gene': 'PIR42263', 'score': 550.77}, {'connected_gene': 'PSMA7', 'score': 550.77}, {'connected_gene': 'MRGBP', 'score': 20.44}, {'connected_gene': 'TAF4', 'score': 15.52}, {'connected_gene': 'DIDO1', 'score': 10.53}, {'connected_gene': 'ADRM1', 'score': 10.13}, {'connected_gene': 'MTG2', 'score': 8.67}]
chr20	GH20I062186	62186802	62188174	0.76	[{'connected_gene': 'SS18L1', 'score': 11.97}, {'connected_gene': 'PSMA7', 'score': 11.97}, {'connected_gene': 'HRH3', 'score': 11.68}, {'connected_gene': 'MTG2', 'score': 6.78}, {'connected_gene': 'PIR52239', 'score': 0.39}]
chr20	GH20I062010	62010945	62011114	0.82	[{'connected_gene': 'SS18L1', 'score': 12.11}, {'connected_gene': 'PSMA7', 'score': 12.11}, {'connected_gene': 'HRH3', 'score': 10.61}, {'connected_gene': 'CDH4', 'score': 5.75}, {'connected_gene': 'LOC105372704', 'score': 0.44}, {'connected_gene': 'GC20M062040', 'score': 0.31}, {'connected_gene': 'TAF4', 'score': 0.23}]
chr20	GH20I062018	62018932	62020333	0.38	[{'connected_gene': 'SS18L1', 'score': 12.26}, {'connected_gene': 'PSMA7', 'score': 12.26}, {'connected_gene': 'LOC105372704', 'score': 0.37}, {'connected_gene': 'GC20M062040', 'score': 0.37}, {'connected_gene': 'TAF4', 'score': 0.25}]
chr20	GH20I062014	62014325	62014474	0.2	[{'connected_gene': 'SS18L1', 'score': 12.26}, {'connected_gene': 'PSMA7', 'score': 12.26}, {'connected_gene': 'LOC105372704', 'score': 0.39}, {'connected_gene': 'GC20M062040', 'score': 0.34}, {'connected_gene': 'TAF4', 'score': 0.23}]
chr20	GH20I062177	62177434	62177612	0.66	[{'connected_gene': 'SS18L1', 'score': 6.11}, {'connected_gene': 'MTG2', 'score': 1.75}]
chr20	GH20I062161	62161425	62161574	0.99	[{'connected_gene': 'SS18L1', 'score': 550.37}, {'connected_gene': 'MTG2', 'score': 0.34}]
chr20	GH20I062154	62154854	62156632	1.05	[{'connected_gene': 'SS18L1', 'score': 6.68}, {'connected_gene': 'MTG2', 'score': 0.31}]
chr20	GH20I062148	62148662	62150634	0.89	[{'connected_gene': 'SS18L1', 'score': 6.79}, {'connected_gene': 'MTG2', 'score': 0.29}]
chr20	GH20I062159	62159217	62160634	0.75	[{'connected_gene': 'SS18L1', 'score': 6.12}, {'connected_gene': 'MTG2', 'score': 0.34}]
chr20	GH20I062117	62117305	62118344	0.54	[{'connected_gene': 'SS18L1', 'score': 7.41}, {'connected_gene': 'LSM14B', 'score': 0.77}, {'connected_gene': 'LOC105372706', 'score': 0.44}, {'connected_gene': 'LOC105372705', 'score': 0.23}]
chr20	GH20I062118	62118491	62124364	2.06	[{'connected_gene': 'LSM14B', 'score': 550.77}, {'connected_gene': 'DIDO1', 'score': 46.87}, {'connected_gene': 'TAF4', 'score': 25.47}, {'connected_gene': 'MRGBP', 'score': 20.43}, {'connected_gene': 'ENSG00000226332', 'score': 18.45}, {'connected_gene': 'RPS21', 'score': 12.26}, {'connected_gene': 'ADRM1', 'score': 10.11}, {'connected_gene': 'SS18L1', 'score': 7.47}, {'connected_gene': 'LOC105372706', 'score': 0.77}, {'connected_gene': 'LOC105372705', 'score': 0.22}]
chr20	GH20I062145	62145787	62146974	1.19	[{'connected_gene': 'DIDO1', 'score': 15.96}, {'connected_gene': 'LAMA5', 'score': 14.32}, {'connected_gene': 'TAF4', 'score': 14.12}, {'connected_gene': 'ENSG00000226332', 'score': 11.06}, {'connected_gene': 'SS18L1', 'score': 10.19}, {'connected_gene': 'MTG2', 'score': 0.28}]
chr20	GH20I062003	62003145	62003294	0.64	[{'connected_gene': 'LOC105372704', 'score': 550.77}, {'connected_gene': 'SS18L1', 'score': 11.81}, {'connected_gene': 'PSMA7', 'score': 11.81}, {'connected_gene': 'MIR1257', 'score': 10.86}, {'connected_gene': 'GC20P061972', 'score': 0.29}, {'connected_gene': 'GC20M062040', 'score': 0.29}, {'connected_gene': 'TAF4', 'score': 0.21}]
chr20	GH20I062349	62349493	62349771	0.54	[{'connected_gene': 'LAMA5-AS1', 'score': 9.19}, {'connected_gene': 'CABLES2', 'score': 8.53}, {'connected_gene': 'BHLHE23', 'score': 5.58}, {'connected_gene': 'LAMA5', 'score': 2.83}, {'connected_gene': 'RBBP8NL', 'score': 1.49}, {'connected_gene': 'SLCO4A1', 'score': 1.49}, {'connected_gene': 'SS18L1', 'score': 1.4}, {'connected_gene': 'TAF4', 'score': 1.28}, {'connected_gene': 'MIR4758', 'score': 0.37}]
chr20	GH20I061671	61671968	61672097	0.57	[{'connected_gene': 'ENSG00000226332', 'score': 12.6}, {'connected_gene': 'TAF4', 'score': 11.97}, {'connected_gene': 'CDH4', 'score': 2.25}, {'connected_gene': 'SS18L1', 'score': 1.43}, {'connected_gene': 'GC20P061695', 'score': 0.34}, {'connected_gene': 'GC20P061629', 'score': 0.26}]
chr20	GH20I062201	62201230	62202314	0.38	[{'connected_gene': 'PIR52239', 'score': 550.77}, {'connected_gene': 'MTG2', 'score': 23.33}, {'connected_gene': 'SS18L1', 'score': 11.31}, {'connected_gene': 'PSMA7', 'score': 11.31}, {'connected_gene': 'ENSG00000226332', 'score': 11.1}, {'connected_gene': 'ADRM1', 'score': 11.1}, {'connected_gene': 'LAMA5', 'score': 11.05}, {'connected_gene': 'OSBPL2', 'score': 9.57}, {'connected_gene': 'HRH3', 'score': 0.37}]
chr20	GH20I062134	62134005	62136021	1.09	[{'connected_gene': 'GC20M062135', 'score': 550.77}, {'connected_gene': 'MTG2', 'score': 11.37}, {'connected_gene': 'SS18L1', 'score': 7.2}, {'connected_gene': 'PIR34643', 'score': 0.77}, {'connected_gene': 'LSM14B', 'score': 0.39}]
chr20	GH20I062132	62132601	62134000	0.66	[{'connected_gene': 'GC20M062135', 'score': 550.77}, {'connected_gene': 'PIR34643', 'score': 550.77}, {'connected_gene': 'MTG2', 'score': 11.06}, {'connected_gene': 'SS18L1', 'score': 7.16}, {'connected_gene': 'LSM14B', 'score': 0.39}]