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
ENST00000225941	[[47287588, 47288203], [47293892, 47294060], [47295100, 47295277], [47296901, 47296987], [47297219, 47297315], [47297530, 47297688], [47299452, 47299587], [47299913, 47300587]]	[[47288086, 47288203], [47293892, 47294060], [47295100, 47295277], [47296901, 47296987], [47297219, 47297315], [47297530, 47297688], [47299452, 47299587], [47299913, 47300077]]
ENST00000419580	[[47287772, 47288203], [47293892, 47294042], [47295100, 47295277], [47296901, 47296987], [47297219, 47297315], [47297530, 47297688], [47299452, 47299587], [47299913, 47300398]]	[[47288086, 47288203], [47293892, 47294042], [47295100, 47295277], [47296901, 47296987], [47297219, 47297315], [47297530, 47297688], [47299452, 47299587], [47299913, 47300077]]
ENST00000573347	[[47296924, 47296987], [47297219, 47297315], [47297530, 47297688], [47299431, 47299924]]	[[47296924, 47296987], [47297219, 47297315], [47297530, 47297688], [47299431, 47299595]]
ENST00000571035	[[47297219, 47297315], [47297530, 47297688], [47299431, 47299587], [47299913, 47300369]]	[[47297219, 47297315], [47297530, 47297688], [47299431, 47299587], [47299913, 47300077]]
NM_001135186	[[47287588, 47288203], [47293892, 47294042], [47295100, 47295277], [47296901, 47296987], [47297219, 47297315], [47297530, 47297688], [47299452, 47299587], [47299913, 47300587]]	[[47288086, 47288203], [47293892, 47294042], [47295100, 47295277], [47296901, 47296987], [47297219, 47297315], [47297530, 47297688], [47299452, 47299587], [47299913, 47300077]]
NM_016428	[[47287588, 47288203], [47293892, 47294060], [47295100, 47295277], [47296901, 47296987], [47297219, 47297315], [47297530, 47297688], [47299452, 47299587], [47299913, 47300587]]	[[47288086, 47288203], [47293892, 47294060], [47295100, 47295277], [47296901, 47296987], [47297219, 47297315], [47297530, 47297688], [47299452, 47299587], [47299913, 47300077]]

Promoter

Chrom	Start	End	Description
chr17	47287749	47287777	CAGE_peak_2_at_ABI3_5end
chr17	47287786	47287797	CAGE_peak_4_at_ABI3_5end
chr17	47288020	47288029	CAGE_peak_3_at_ABI3_5end
chr17	47288061	47288080	CAGE_peak_1_at_ABI3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I049031	49031631	49032828	0.93	[{'connected_gene': 'PRAC1', 'score': 10.58}, {'connected_gene': 'PRAC2', 'score': 10.58}, {'connected_gene': 'GNGT2', 'score': 9.69}, {'connected_gene': 'ABI3', 'score': 9.69}, {'connected_gene': 'ATP5MC1', 'score': 7.14}, {'connected_gene': 'GC17P049038', 'score': 0.77}, {'connected_gene': 'ENSG00000255851', 'score': 0.39}, {'connected_gene': 'IGF2BP1', 'score': 0.29}]
chr17	GH17I049190	49190723	49194755	1.71	[{'connected_gene': 'TRQ-TTG1-1', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 155.62}, {'connected_gene': 'UBE2Z', 'score': 119.93}, {'connected_gene': 'FAM117A', 'score': 62.8}, {'connected_gene': 'FLJ45513', 'score': 52.73}, {'connected_gene': 'ENSG00000230532', 'score': 44.34}, {'connected_gene': 'KAT7', 'score': 30.69}, {'connected_gene': 'TAC4', 'score': 27.97}, {'connected_gene': 'PICART1', 'score': 27.03}, {'connected_gene': 'CALCOCO2', 'score': 25.22}, {'connected_gene': 'NXPH3', 'score': 18.13}, {'connected_gene': 'B4GALNT2', 'score': 15.14}, {'connected_gene': 'PHOSPHO1', 'score': 12.63}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'HOXB4', 'score': 10.57}, {'connected_gene': 'SPOP', 'score': 10.47}, {'connected_gene': 'HOXB6', 'score': 10.18}, {'connected_gene': 'SNF8', 'score': 10.17}, {'connected_gene': 'ENSG00000250751', 'score': 10.16}, {'connected_gene': 'LOC101927166', 'score': 9.82}, {'connected_gene': 'SAMD14', 'score': 9.71}, {'connected_gene': 'ABI3', 'score': 5.26}, {'connected_gene': 'GNGT2', 'score': 3.59}, {'connected_gene': 'ZNF652', 'score': 1.8}]
chr17	GH17I049201	49201570	49201891	0.42	[{'connected_gene': 'TRQ-TTG1-1', 'score': 0.44}, {'connected_gene': 'ABI3', 'score': 0.44}]
chr17	GH17I049208	49208482	49220628	2.17	[{'connected_gene': 'ABI3', 'score': 563.82}, {'connected_gene': 'GNGT2', 'score': 557.25}, {'connected_gene': 'B4GALNT2', 'score': 10.93}, {'connected_gene': 'CALCOCO2', 'score': 5.74}, {'connected_gene': 'UBE2Z', 'score': 4.03}, {'connected_gene': 'PIR31803', 'score': 0.44}]
chr17	GH17I049387	49387342	49391888	1.63	[{'connected_gene': 'ZNF652', 'score': 21.0}, {'connected_gene': 'SPOP', 'score': 13.09}, {'connected_gene': 'LOC102724596', 'score': 12.23}, {'connected_gene': 'ENSG00000207127', 'score': 11.99}, {'connected_gene': 'PHB', 'score': 11.99}, {'connected_gene': 'ABI3', 'score': 10.89}, {'connected_gene': 'SNF8', 'score': 10.15}, {'connected_gene': 'PHOSPHO1', 'score': 10.12}, {'connected_gene': 'UBE2Z', 'score': 9.67}, {'connected_gene': 'GNGT2', 'score': 9.33}, {'connected_gene': 'KAT7', 'score': 5.66}, {'connected_gene': 'FAM117A', 'score': 3.84}, {'connected_gene': 'RPL21P124', 'score': 0.39}, {'connected_gene': 'ENSG00000250948', 'score': 0.39}, {'connected_gene': 'ENSG00000262039', 'score': 0.37}]
chr17	GH17I049393	49393728	49394416	0.83	[{'connected_gene': 'ZNF652', 'score': 16.7}, {'connected_gene': 'LOC102724596', 'score': 12.21}, {'connected_gene': 'ENSG00000207127', 'score': 12.02}, {'connected_gene': 'PHB', 'score': 12.02}, {'connected_gene': 'ABI3', 'score': 9.2}, {'connected_gene': 'GNGT2', 'score': 9.2}, {'connected_gene': 'RPL21P124', 'score': 0.44}, {'connected_gene': 'ENSG00000250948', 'score': 0.37}, {'connected_gene': 'ENSG00000262039', 'score': 0.34}]
chr17	GH17I049396	49396069	49398372	0.2	[{'connected_gene': 'ZNF652', 'score': 16.88}, {'connected_gene': 'LOC102724596', 'score': 12.2}, {'connected_gene': 'ABI3', 'score': 9.22}, {'connected_gene': 'GNGT2', 'score': 9.22}, {'connected_gene': 'ENSG00000248172', 'score': 8.67}, {'connected_gene': 'DLX3', 'score': 8.67}, {'connected_gene': 'RPL21P124', 'score': 0.77}, {'connected_gene': 'ENSG00000250948', 'score': 0.34}, {'connected_gene': 'ENSG00000262039', 'score': 0.31}]
chr17	GH17I049394	49394801	49395400	1.22	[{'connected_gene': 'ZNF652', 'score': 16.7}, {'connected_gene': 'LOC102724596', 'score': 12.21}, {'connected_gene': 'ENSG00000207127', 'score': 12.02}, {'connected_gene': 'ABI3', 'score': 9.2}, {'connected_gene': 'GNGT2', 'score': 9.2}, {'connected_gene': 'RPL21P124', 'score': 0.44}, {'connected_gene': 'ENSG00000250948', 'score': 0.37}, {'connected_gene': 'ENSG00000262039', 'score': 0.34}]
chr17	GH17I049335	49334201	49334600	0.6	[{'connected_gene': 'ZNF652', 'score': 20.27}, {'connected_gene': 'LOC102724596', 'score': 13.45}, {'connected_gene': 'ENSG00000250186', 'score': 11.15}, {'connected_gene': 'RPL21P124', 'score': 11.15}, {'connected_gene': 'PHB', 'score': 11.13}, {'connected_gene': 'ABI3', 'score': 10.12}, {'connected_gene': 'GNGT2', 'score': 10.12}, {'connected_gene': 'GC17M049339', 'score': 0.44}, {'connected_gene': 'GC17M049326', 'score': 0.44}]
chr17	GH17I049340	49340527	49344053	1.22	[{'connected_gene': 'ZNF652', 'score': 20.77}, {'connected_gene': 'RPL21P124', 'score': 11.4}, {'connected_gene': 'ENSG00000250186', 'score': 11.39}, {'connected_gene': 'PHB', 'score': 11.38}, {'connected_gene': 'ABI3', 'score': 10.74}, {'connected_gene': 'GNGT2', 'score': 10.74}, {'connected_gene': 'FLJ40194', 'score': 5.63}, {'connected_gene': 'GC17M049339', 'score': 0.77}, {'connected_gene': 'PIR41840', 'score': 0.37}]
chr17	GH17I049230	49230000	49231428	1.87	[{'connected_gene': 'PHOSPHO1', 'score': 556.14}, {'connected_gene': 'ABI3', 'score': 10.46}, {'connected_gene': 'LOC105371816', 'score': 0.44}]
chr17	GH17I049251	49251374	49253244	1.05	[{'connected_gene': 'PHOSPHO1', 'score': 12.39}, {'connected_gene': 'GNGT2', 'score': 11.01}, {'connected_gene': 'ABI3', 'score': 11.01}, {'connected_gene': 'ZNF652', 'score': 6.41}, {'connected_gene': 'FLJ40194', 'score': 0.77}, {'connected_gene': 'GC17P049267', 'score': 0.37}]
chr17	GH17I049109	49109948	49112650	0.69	[{'connected_gene': 'B4GALNT2', 'score': 22.5}, {'connected_gene': 'UBE2Z', 'score': 11.55}, {'connected_gene': 'ENSG00000262837', 'score': 11.16}, {'connected_gene': 'GNGT2', 'score': 10.75}, {'connected_gene': 'ABI3', 'score': 10.75}, {'connected_gene': 'ENSG00000238804', 'score': 10.6}, {'connected_gene': 'B4GALNT2P1', 'score': 0.31}]
chr17	GH17I049117	49117593	49118306	0.43	[{'connected_gene': 'B4GALNT2', 'score': 11.52}, {'connected_gene': 'ENSG00000238804', 'score': 10.13}, {'connected_gene': 'GNGT2', 'score': 9.64}, {'connected_gene': 'ABI3', 'score': 9.64}, {'connected_gene': 'RPL9P28', 'score': 5.08}, {'connected_gene': 'B4GALNT2P1', 'score': 0.29}]
chr17	GH17I049106	49106115	49109128	1.19	[{'connected_gene': 'B4GALNT2', 'score': 11.57}, {'connected_gene': 'ENSG00000238804', 'score': 10.6}, {'connected_gene': 'GNGT2', 'score': 10.02}, {'connected_gene': 'ABI3', 'score': 10.02}, {'connected_gene': 'B4GALNT2P1', 'score': 0.34}]
chr17	GH17I049249	49249081	49250188	0.74	[{'connected_gene': 'FLJ40194', 'score': 550.77}, {'connected_gene': 'GNGT2', 'score': 11.02}, {'connected_gene': 'ABI3', 'score': 11.02}, {'connected_gene': 'PHOSPHO1', 'score': 9.87}, {'connected_gene': 'GC17P049267', 'score': 0.37}]
chr17	GH17I049687	49687048	49689514	1.49	[{'connected_gene': 'NXPH3', 'score': 11.61}, {'connected_gene': 'LOC100288866', 'score': 11.61}, {'connected_gene': 'SLC35B1', 'score': 11.42}, {'connected_gene': 'PHB', 'score': 10.76}, {'connected_gene': 'RPL21P124', 'score': 10.24}, {'connected_gene': 'ENSG00000250186', 'score': 10.24}, {'connected_gene': 'FAM117A', 'score': 5.97}, {'connected_gene': 'SPOP', 'score': 5.55}, {'connected_gene': 'PHOSPHO1', 'score': 5.18}, {'connected_gene': 'SAMD14', 'score': 4.97}, {'connected_gene': 'KAT7', 'score': 2.33}, {'connected_gene': 'ZNF652', 'score': 1.61}, {'connected_gene': 'GNGT2', 'score': 1.33}, {'connected_gene': 'PPP1R9B', 'score': 1.21}, {'connected_gene': 'ABI3', 'score': 1.14}, {'connected_gene': 'GC17P049692', 'score': 0.77}]
chr17	GH17I049223	49223094	49225428	1	[{'connected_gene': 'LOC105371816', 'score': 550.77}, {'connected_gene': 'PIR31803', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 14.72}, {'connected_gene': 'UBE2Z', 'score': 11.43}, {'connected_gene': 'COL1A1', 'score': 10.11}, {'connected_gene': 'FAM117A', 'score': 9.82}, {'connected_gene': 'TAC4', 'score': 9.77}, {'connected_gene': 'PHOSPHO1', 'score': 0.44}, {'connected_gene': 'ABI3', 'score': 0.39}, {'connected_gene': 'GNGT2', 'score': 0.39}]
chr17	GH17I049395	49395736	49396050	0.31	[{'connected_gene': 'LOC102724596', 'score': 12.21}, {'connected_gene': 'ZNF652', 'score': 12.21}, {'connected_gene': 'ENSG00000207127', 'score': 12.02}, {'connected_gene': 'ABI3', 'score': 9.2}, {'connected_gene': 'GNGT2', 'score': 9.2}, {'connected_gene': 'RPL21P124', 'score': 0.77}, {'connected_gene': 'ENSG00000250948', 'score': 0.34}, {'connected_gene': 'ENSG00000262039', 'score': 0.31}]
chr17	GH17I049334	49334839	49334948	0.38	[{'connected_gene': 'LOC102724596', 'score': 13.45}, {'connected_gene': 'ZNF652', 'score': 13.45}, {'connected_gene': 'ENSG00000250186', 'score': 11.15}, {'connected_gene': 'RPL21P124', 'score': 11.15}, {'connected_gene': 'PHB', 'score': 11.13}, {'connected_gene': 'ABI3', 'score': 10.12}, {'connected_gene': 'GNGT2', 'score': 10.12}, {'connected_gene': 'FLJ40194', 'score': 5.6}, {'connected_gene': 'GC17M049339', 'score': 0.77}, {'connected_gene': 'GC17M049326', 'score': 0.44}]
chr17	GH17I049352	49352130	49354381	0.52	[{'connected_gene': 'RPL21P124', 'score': 11.7}, {'connected_gene': 'ENSG00000250186', 'score': 11.69}, {'connected_gene': 'PHB', 'score': 11.67}, {'connected_gene': 'ENSG00000207127', 'score': 11.11}, {'connected_gene': 'ABI3', 'score': 10.2}, {'connected_gene': 'GNGT2', 'score': 10.2}, {'connected_gene': 'ZNF652', 'score': 6.63}, {'connected_gene': 'FLJ40194', 'score': 5.61}, {'connected_gene': 'PIR41840', 'score': 0.44}, {'connected_gene': 'GC17M049339', 'score': 0.39}]