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
ENST00000397372	[[16244837, 16245045], [16252750, 16252903], [16254441, 16254584], [16263946, 16264018], [16265208, 16265301], [16268019, 16268205], [16268209, 16269344]]	[[16254542, 16254584], [16263946, 16264018], [16265208, 16265301], [16268019, 16268205], [16268209, 16268605]]
ENST00000253680	[[16244837, 16245045], [16252750, 16252903], [16254441, 16254584], [16259533, 16259685], [16263361, 16263451], [16263852, 16264018], [16265208, 16265301], [16268019, 16268208], [16268209, 16269344]]	[[16259560, 16259685], [16263361, 16263451], [16263852, 16264018], [16265208, 16265301], [16268019, 16268208], [16268209, 16268605]]
ENST00000593154	[[16244837, 16245045], [16252750, 16252903], [16254441, 16254584], [16259533, 16259685], [16263361, 16263451], [16263852, 16264018], [16265208, 16265301], [16268019, 16269381]]	[[16259560, 16259685], [16263361, 16263451], [16263852, 16264018], [16265208, 16265301], [16268019, 16268448]]
ENST00000586872	[[16254494, 16254584], [16259533, 16259685], [16263361, 16264018], [16265208, 16265673]]	[[16259560, 16259685], [16263361, 16263455]]
ENST00000588246	[[16254494, 16254584], [16259533, 16259685], [16263361, 16263451], [16263852, 16264018], [16265208, 16265301], [16268019, 16269386]]	[[16259560, 16259685], [16263361, 16263451], [16263852, 16264018], [16265208, 16265301], [16268019, 16268448]]
ENST00000589463	[[16254500, 16254584], [16259533, 16259685], [16262256, 16262388], [16263361, 16264018], [16265208, 16265301], [16268019, 16269375]]	[[16259560, 16259685], [16262256, 16262341]]
ENST00000535834	[[16254504, 16254584], [16262256, 16262388], [16263361, 16264018], [16265208, 16265301], [16266451, 16266471]]	[[16262360, 16262388], [16263361, 16263822]]
ENST00000587963	[[16254524, 16254584], [16259533, 16259685], [16263361, 16263451], [16263841, 16264018], [16265211, 16265301], [16268019, 16268959]]	[[16259560, 16259685], [16263361, 16263451], [16263841, 16263884]]
ENST00000593031	[[16254545, 16254584], [16259533, 16259610], [16263361, 16263451], [16263852, 16264018], [16265208, 16265301], [16268019, 16268139]]	[[16259560, 16259610], [16263361, 16263451], [16263852, 16264018], [16265208, 16265301], [16268019, 16268139]]
ENST00000591154	[[16263361, 16263451], [16263852, 16264018], [16265211, 16265301], [16266451, 16266573], [16268019, 16268058]]	[[16263361, 16263451], [16263852, 16263884]]
NR_111904	[[16244837, 16245045], [16252750, 16252903], [16254441, 16254584], [16259533, 16259685], [16263361, 16264018], [16265208, 16265472]]	None
NM_032855	[[16244837, 16245045], [16252750, 16252903], [16254441, 16254584], [16259533, 16259685], [16263361, 16263451], [16263852, 16264018], [16265208, 16265301], [16268019, 16268212], [16268213, 16269386]]	[[16259560, 16259685], [16263361, 16263451], [16263852, 16264018], [16265208, 16265301], [16268019, 16268212], [16268213, 16268605]]
NR_111903	[[16244837, 16245045], [16252750, 16252903], [16254441, 16254584], [16259533, 16259685], [16263361, 16263451], [16263841, 16264014], [16265208, 16265301], [16268019, 16269386]]	None
NM_001291274	[[16244837, 16245045], [16252750, 16252903], [16254441, 16254584], [16259533, 16259685], [16262256, 16262388], [16263361, 16264018], [16265208, 16265301], [16268019, 16268212], [16268213, 16269386]]	[[16263808, 16264018], [16265208, 16265301], [16268019, 16268212], [16268213, 16268605]]

Promoter

Chrom	Start	End	Description
chr19	16254488	16254551	CAGE_peak_1_at_HSH2D_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I016127	16127022	16129163	0.38	[{'connected_gene': 'AP1M1', 'score': 11.15}, {'connected_gene': 'HSH2D', 'score': 0.44}, {'connected_gene': 'ENSG00000269243', 'score': 0.39}, {'connected_gene': 'RAB8A', 'score': 0.37}]
chr19	GH19I016154	16154091	16154220	0.77	[{'connected_gene': 'AP1M1', 'score': 6.04}, {'connected_gene': 'ENSG00000269243', 'score': 0.39}, {'connected_gene': 'CIB3', 'score': 0.37}, {'connected_gene': 'HSH2D', 'score': 0.34}]
chr19	GH19I016084	16084164	16090845	1.34	[{'connected_gene': 'HSH2D', 'score': 11.7}, {'connected_gene': 'RASAL3', 'score': 5.78}, {'connected_gene': 'ENSG00000279198', 'score': 0.39}, {'connected_gene': 'ENSG00000267373', 'score': 0.37}, {'connected_gene': 'TPM4', 'score': 0.34}]
chr19	GH19I016139	16139175	16148144	2.59	[{'connected_gene': 'HSH2D', 'score': 550.44}, {'connected_gene': 'RAB8A', 'score': 4.2}, {'connected_gene': 'EPS15L1', 'score': 1.63}, {'connected_gene': 'ENSG00000269243', 'score': 0.77}, {'connected_gene': 'CIB3', 'score': 0.31}]
chr19	GH19I016125	16125223	16126557	0.63	[{'connected_gene': 'HSH2D', 'score': 0.44}, {'connected_gene': 'RAB8A', 'score': 0.39}, {'connected_gene': 'ENSG00000269243', 'score': 0.39}]
chr19	GH19I016123	16123576	16124387	0.2	[{'connected_gene': 'HSH2D', 'score': 0.39}, {'connected_gene': 'RAB8A', 'score': 0.39}, {'connected_gene': 'ENSG00000269243', 'score': 0.37}]
chr19	GH19I016134	16134002	16134061	0.81	[{'connected_gene': 'HSH2D', 'score': 550.77}, {'connected_gene': 'RAB8A', 'score': 6.46}, {'connected_gene': 'ENSG00000269243', 'score': 0.44}]
chr19	GH19I016135	16135801	16136000	0.46	[{'connected_gene': 'HSH2D', 'score': 550.77}, {'connected_gene': 'RAB8A', 'score': 6.46}, {'connected_gene': 'ENSG00000269243', 'score': 0.77}]
chr19	GH19I016091	16091435	16099081	1.4	[{'connected_gene': 'HSH2D', 'score': 18.18}, {'connected_gene': 'CIB3', 'score': 12.07}, {'connected_gene': 'FAM32A', 'score': 12.05}, {'connected_gene': 'EPS15L1', 'score': 3.94}, {'connected_gene': 'RAB8A', 'score': 2.3}, {'connected_gene': 'ENSG00000267373', 'score': 0.44}, {'connected_gene': 'ENSG00000279198', 'score': 0.37}, {'connected_gene': 'TPM4', 'score': 0.31}]
chr19	GH19I016136	16136771	16136900	0.38	[{'connected_gene': 'HSH2D', 'score': 0.77}, {'connected_gene': 'ENSG00000269243', 'score': 0.77}]
chr19	GH19I016461	16461601	16465743	1.64	[{'connected_gene': 'C19orf44', 'score': 31.97}, {'connected_gene': 'CHERP', 'score': 16.86}, {'connected_gene': 'ENSG00000268743', 'score': 12.98}, {'connected_gene': 'ENSG00000141979', 'score': 11.93}, {'connected_gene': 'ENSG00000267904', 'score': 10.67}, {'connected_gene': 'SMIM7', 'score': 5.81}, {'connected_gene': 'EPS15L1', 'score': 5.64}, {'connected_gene': 'HSH2D', 'score': 3.68}, {'connected_gene': 'ENSG00000267703', 'score': 0.34}, {'connected_gene': 'GC19P020259', 'score': 0.31}, {'connected_gene': 'GC19M016221', 'score': 0.13}]
chr19	GH19I016442	16442496	16451320	1.74	[{'connected_gene': 'EPS15L1', 'score': 34.36}, {'connected_gene': 'C19orf44', 'score': 20.32}, {'connected_gene': 'ENSG00000141979', 'score': 12.09}, {'connected_gene': 'CHERP', 'score': 10.39}, {'connected_gene': 'RAB8A', 'score': 6.17}, {'connected_gene': 'MED26', 'score': 5.55}, {'connected_gene': 'HSH2D', 'score': 5.49}, {'connected_gene': 'SMIM7', 'score': 5.1}, {'connected_gene': 'GTPBP3', 'score': 5.05}, {'connected_gene': 'KLF2', 'score': 2.63}, {'connected_gene': 'GC19P020259', 'score': 0.44}, {'connected_gene': 'ENSG00000267703', 'score': 0.44}, {'connected_gene': 'GC19M016221', 'score': 0.11}]
chr19	GH19I016110	16110671	16121679	2.82	[{'connected_gene': 'RAB8A', 'score': 565.28}, {'connected_gene': 'CHERP', 'score': 72.81}, {'connected_gene': 'AKAP8', 'score': 65.0}, {'connected_gene': 'BRD4', 'score': 42.02}, {'connected_gene': 'ENSG00000268743', 'score': 36.43}, {'connected_gene': 'ENSG00000269578', 'score': 35.4}, {'connected_gene': 'HAUS8', 'score': 26.18}, {'connected_gene': 'C19orf44', 'score': 24.08}, {'connected_gene': 'ENSG00000267904', 'score': 20.33}, {'connected_gene': 'ENSG00000268087', 'score': 20.1}, {'connected_gene': 'MED26', 'score': 19.35}, {'connected_gene': 'SMIM7', 'score': 14.37}, {'connected_gene': 'ENSG00000269427', 'score': 11.66}, {'connected_gene': 'NOTCH3', 'score': 10.91}, {'connected_gene': 'TPM4', 'score': 10.68}, {'connected_gene': 'SIN3B', 'score': 9.84}, {'connected_gene': 'HSH2D', 'score': 0.37}]
chr19	GH19I015639	15639483	15642800	1.88	[{'connected_gene': 'CYP4F3', 'score': 563.13}, {'connected_gene': 'CYP4F12', 'score': 19.09}, {'connected_gene': 'HSH2D', 'score': 15.43}, {'connected_gene': 'CYP4F10P', 'score': 15.19}, {'connected_gene': 'OR10H5', 'score': 11.35}, {'connected_gene': 'RAB8A', 'score': 6.03}, {'connected_gene': 'LINC01835', 'score': 5.21}, {'connected_gene': 'BRD4', 'score': 3.43}, {'connected_gene': 'AKAP8', 'score': 2.38}, {'connected_gene': 'GC19M015646', 'score': 0.44}]
chr19	GH19I016155	16155144	16156359	0.89	[{'connected_gene': 'CIB3', 'score': 0.37}, {'connected_gene': 'ENSG00000269243', 'score': 0.37}, {'connected_gene': 'HSH2D', 'score': 0.34}]
chr19	GH19I016148	16148201	16151133	0.97	[{'connected_gene': 'CIB3', 'score': 13.84}, {'connected_gene': 'FAM32A', 'score': 13.78}, {'connected_gene': 'AP1M1', 'score': 6.86}, {'connected_gene': 'ENSG00000269243', 'score': 0.44}, {'connected_gene': 'HSH2D', 'score': 0.37}]
chr19	GH19I015635	15635476	15635723	0.66	[{'connected_gene': 'CYP4F8', 'score': 12.92}, {'connected_gene': 'HSH2D', 'score': 3.34}, {'connected_gene': 'RAB8A', 'score': 2.69}, {'connected_gene': 'CYP4F3', 'score': 2.62}, {'connected_gene': 'BRD4', 'score': 1.38}, {'connected_gene': 'AKAP8', 'score': 1.19}]
chr19	GH19I016131	16131004	16132059	0.76	[{'connected_gene': 'CHERP', 'score': 78.9}, {'connected_gene': 'AKAP8', 'score': 56.96}, {'connected_gene': 'ENSG00000269578', 'score': 56.29}, {'connected_gene': 'C19orf44', 'score': 48.61}, {'connected_gene': 'ENSG00000268743', 'score': 44.08}, {'connected_gene': 'SIN3B', 'score': 31.68}, {'connected_gene': 'ENSG00000267904', 'score': 30.27}, {'connected_gene': 'ENSG00000268189', 'score': 28.83}, {'connected_gene': 'AKAP8L', 'score': 23.42}, {'connected_gene': 'ENSG00000268087', 'score': 22.72}, {'connected_gene': 'BRD4', 'score': 22.66}, {'connected_gene': 'MED26', 'score': 22.43}, {'connected_gene': 'ENSG00000269427', 'score': 13.29}, {'connected_gene': 'ENSG00000269044', 'score': 12.59}, {'connected_gene': 'HAUS8', 'score': 11.76}, {'connected_gene': 'TPM4', 'score': 11.09}, {'connected_gene': 'CYP4F24P', 'score': 10.35}, {'connected_gene': 'ENSG00000273218', 'score': 9.72}, {'connected_gene': 'RAB8A', 'score': 7.73}, {'connected_gene': 'HSH2D', 'score': 0.77}, {'connected_gene': 'ENSG00000269243', 'score': 0.44}]
chr19	GH19I016323	16323468	16332536	2.48	[{'connected_gene': 'KLF2', 'score': 558.7}, {'connected_gene': 'C19orf44', 'score': 13.83}, {'connected_gene': 'SIN3B', 'score': 12.26}, {'connected_gene': 'CHERP', 'score': 10.35}, {'connected_gene': 'ENSG00000269578', 'score': 9.92}, {'connected_gene': 'ENSG00000268743', 'score': 9.89}, {'connected_gene': 'EPS15L1', 'score': 9.85}, {'connected_gene': 'MED26', 'score': 7.86}, {'connected_gene': 'TMEM38A', 'score': 4.91}, {'connected_gene': 'NR2F6', 'score': 4.9}, {'connected_gene': 'RAB8A', 'score': 4.67}, {'connected_gene': 'HSH2D', 'score': 2.89}, {'connected_gene': 'ENSG00000267275', 'score': 0.77}, {'connected_gene': 'ENSG00000277825', 'score': 0.31}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19	GH19I016396	16396779	16400134	1.16	[{'connected_gene': 'GC19M016398', 'score': 550.77}, {'connected_gene': 'ENSG00000269427', 'score': 20.29}, {'connected_gene': 'EPS15L1', 'score': 17.71}, {'connected_gene': 'KLF2', 'score': 13.17}, {'connected_gene': 'CYP4F24P', 'score': 12.94}, {'connected_gene': 'AP1M1', 'score': 10.67}, {'connected_gene': 'C19orf44', 'score': 5.83}, {'connected_gene': 'ENSG00000269044', 'score': 5.29}, {'connected_gene': 'GTPBP3', 'score': 5.12}, {'connected_gene': 'RAB8A', 'score': 3.91}, {'connected_gene': 'MED26', 'score': 3.59}, {'connected_gene': 'HSH2D', 'score': 3.01}, {'connected_gene': 'GC19P020263', 'score': 0.29}, {'connected_gene': 'GC19M016221', 'score': 0.08}]
chr19	GH19I016153	16153731	16153880	0.8	[{'connected_gene': 'ENSG00000269243', 'score': 0.39}, {'connected_gene': 'CIB3', 'score': 0.37}, {'connected_gene': 'HSH2D', 'score': 0.37}]