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
ENST00000436239	[[231376952, 231377202], [231396252, 231396429], [231398468, 231398598], [231401038, 231401166], [231401457, 231401533], [231401759, 231401837]]	[[231377124, 231377202], [231396252, 231396429], [231398468, 231398598], [231401038, 231401166], [231401457, 231401533], [231401759, 231401837]]
ENST00000366647	[[231376955, 231377202], [231386706, 231386889], [231396252, 231396429], [231398468, 231398598], [231401038, 231401166], [231401457, 231401533], [231401759, 231401911], [231402022, 231402153], [231403425, 231403649], [231406503, 231406746], [231408057, 231408137], [231409667, 231409808], [231410966, 231411066], [231411150, 231411244], [231411880, 231411942], [231413244, 231413719]]	[[231377124, 231377202], [231386706, 231386889], [231396252, 231396429], [231398468, 231398598], [231401038, 231401166], [231401457, 231401533], [231401759, 231401911], [231402022, 231402153], [231403425, 231403649], [231406503, 231406746], [231408057, 231408137], [231409667, 231409808], [231410966, 231411066], [231411150, 231411244], [231411880, 231411942], [231413244, 231413288]]
ENST00000366646	[[231376957, 231377202], [231396252, 231396429], [231398468, 231398598], [231401038, 231401166], [231401457, 231401533], [231401759, 231401911], [231402022, 231402153], [231403425, 231403649], [231406503, 231406746], [231408057, 231408137], [231409667, 231409808], [231410966, 231411066], [231411150, 231411244], [231411880, 231411942], [231413244, 231413337]]	[[231377124, 231377202], [231396252, 231396429], [231398468, 231398598], [231401038, 231401166], [231401457, 231401533], [231401759, 231401911], [231402022, 231402153], [231403425, 231403649], [231406503, 231406746], [231408057, 231408137], [231409667, 231409808], [231410966, 231411066], [231411150, 231411244], [231411880, 231411942], [231413244, 231413288]]
ENST00000416000	[[231376961, 231377202], [231386706, 231386889], [231396252, 231396399], [231398468, 231398598], [231401038, 231401166], [231401457, 231401533], [231401759, 231401911], [231402022, 231402153], [231403425, 231403649], [231406503, 231406746], [231408057, 231408137], [231409667, 231409808], [231410966, 231411014]]	[[231377124, 231377202], [231386706, 231386889], [231396252, 231396399], [231398468, 231398598], [231401038, 231401166], [231401457, 231401533], [231401759, 231401911], [231402022, 231402153], [231403425, 231403649], [231406503, 231406746], [231408057, 231408137], [231409667, 231409808], [231410966, 231411014]]
ENST00000492459	[[231401879, 231401911], [231402022, 231402153], [231403425, 231403657], [231405608, 231405802]]	None
ENST00000469332	[[231410641, 231411066], [231411150, 231411244], [231411880, 231411942], [231413244, 231413276]]	None
NM_001316350	[[231376918, 231377202], [231396252, 231396429], [231398468, 231398598], [231401038, 231401166], [231401457, 231401533], [231401759, 231401911], [231402022, 231402153], [231403425, 231403649], [231406503, 231406746], [231408057, 231408137], [231409667, 231409808], [231410966, 231411066], [231411150, 231411244], [231411880, 231411942], [231413244, 231413719]]	[[231377124, 231377202], [231396252, 231396429], [231398468, 231398598], [231401038, 231401166], [231401457, 231401533], [231401759, 231401911], [231402022, 231402153], [231403425, 231403649], [231406503, 231406746], [231408057, 231408137], [231409667, 231409808], [231410966, 231411066], [231411150, 231411244], [231411880, 231411942], [231413244, 231413288]]
NM_014236	[[231376918, 231377202], [231386706, 231386889], [231396252, 231396429], [231398468, 231398598], [231401038, 231401166], [231401457, 231401533], [231401759, 231401911], [231402022, 231402153], [231403425, 231403649], [231406503, 231406746], [231408057, 231408137], [231409667, 231409808], [231410966, 231411066], [231411150, 231411244], [231411880, 231411942], [231413244, 231413719]]	[[231377124, 231377202], [231386706, 231386889], [231396252, 231396429], [231398468, 231398598], [231401038, 231401166], [231401457, 231401533], [231401759, 231401911], [231402022, 231402153], [231403425, 231403649], [231406503, 231406746], [231408057, 231408137], [231409667, 231409808], [231410966, 231411066], [231411150, 231411244], [231411880, 231411942], [231413244, 231413288]]

Promoter

Chrom	Start	End	Description
chr1	231376941	231376976	CAGE_peak_1_at_GNPAT_5end
chr1	231376982	231376991	CAGE_peak_3_at_GNPAT_5end
chr1	231377080	231377103	CAGE_peak_2_at_GNPAT_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I231215	231215201	231215600	0.43	[{'connected_gene': 'GNPAT', 'score': 11.08}, {'connected_gene': 'C1orf131', 'score': 11.08}, {'connected_gene': 'FAM89A', 'score': 10.77}, {'connected_gene': 'LOC149373', 'score': 0.31}, {'connected_gene': 'TRIM67', 'score': 0.23}]
chr1	GH01I231231	231231649	231237508	1.08	[{'connected_gene': 'GNPAT', 'score': 7.59}, {'connected_gene': 'C1orf131', 'score': 0.44}, {'connected_gene': 'LOC149373', 'score': 0.25}]
chr1	GH01I231240	231240062	231243002	2.07	[{'connected_gene': 'GNPAT', 'score': 574.93}, {'connected_gene': 'C1orf131', 'score': 550.77}, {'connected_gene': 'GC01P231282', 'score': 0.28}]
chr1	GH01I231248	231248895	231249044	0.72	[{'connected_gene': 'GNPAT', 'score': 0.44}, {'connected_gene': 'C1orf131', 'score': 0.44}, {'connected_gene': 'GC01P231282', 'score': 0.29}]
chr1	GH01I231527	231527091	231531007	2.42	[{'connected_gene': 'TSNAX', 'score': 557.03}, {'connected_gene': 'TSNAX-DISC1', 'score': 550.77}, {'connected_gene': 'ENSG00000233461', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 15.79}, {'connected_gene': 'COG2', 'score': 10.83}, {'connected_gene': 'DISC1', 'score': 6.11}, {'connected_gene': 'GNPAT', 'score': 5.53}, {'connected_gene': 'EXOC8', 'score': 4.66}, {'connected_gene': 'SPRTN', 'score': 1.98}, {'connected_gene': 'GC01P231515', 'score': 0.39}, {'connected_gene': 'GC01P231590', 'score': 0.21}, {'connected_gene': 'GC01P231591', 'score': 0.21}]
chr1	GH01I231393	231393211	231397206	1.34	[{'connected_gene': 'EGLN1', 'score': 20.43}, {'connected_gene': 'SPRTN', 'score': 18.67}, {'connected_gene': 'C1orf131', 'score': 15.83}, {'connected_gene': 'COG2', 'score': 10.84}, {'connected_gene': 'EXOC8', 'score': 10.4}, {'connected_gene': 'GNPAT', 'score': 4.84}, {'connected_gene': 'PIR59803', 'score': 0.31}]
chr1	GH01I231200	231200140	231200894	0.97	[{'connected_gene': 'FAM89A', 'score': 10.68}, {'connected_gene': 'LOC644006', 'score': 10.68}, {'connected_gene': 'MIR1182', 'score': 10.67}, {'connected_gene': 'LOC149373', 'score': 0.39}, {'connected_gene': 'TRIM67', 'score': 0.28}, {'connected_gene': 'GNPAT', 'score': 0.26}]
chr1	GH01I231192	231192824	231192824	0.49	[{'connected_gene': 'FAM89A', 'score': 9.85}, {'connected_gene': 'LOC101927604', 'score': 9.6}, {'connected_gene': 'C1orf198', 'score': 9.6}, {'connected_gene': 'LOC149373', 'score': 0.44}, {'connected_gene': 'TRIM67', 'score': 0.29}, {'connected_gene': 'GNPAT', 'score': 0.25}]
chr1	GH01I231603	231603551	231604764	1.08	[{'connected_gene': 'C1orf131', 'score': 25.93}, {'connected_gene': 'DISC1', 'score': 17.38}, {'connected_gene': 'EGLN1', 'score': 10.3}, {'connected_gene': 'COG2', 'score': 9.83}, {'connected_gene': 'GNPAT', 'score': 9.79}, {'connected_gene': 'SPRTN', 'score': 4.86}, {'connected_gene': 'LINC00582', 'score': 0.44}, {'connected_gene': 'GC01P231590', 'score': 0.39}, {'connected_gene': 'GC01P231591', 'score': 0.39}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.18}]
chr1	GH01I231210	231210955	231212917	1.44	[{'connected_gene': 'C1orf131', 'score': 31.44}, {'connected_gene': 'COG2', 'score': 21.34}, {'connected_gene': 'GNPAT', 'score': 16.79}, {'connected_gene': 'FAM89A', 'score': 10.8}, {'connected_gene': 'LOC644006', 'score': 10.8}, {'connected_gene': 'MIR1182', 'score': 10.8}, {'connected_gene': 'LOC101927604', 'score': 10.36}, {'connected_gene': 'C1orf198', 'score': 10.35}, {'connected_gene': 'SPRTN', 'score': 1.39}, {'connected_gene': 'LOC149373', 'score': 0.34}, {'connected_gene': 'TRIM67', 'score': 0.25}]
chr1	GH01I230902	230902385	230902708	0.24	[{'connected_gene': 'LOC101927604', 'score': 11.24}, {'connected_gene': 'C1orf198', 'score': 11.18}, {'connected_gene': 'ARV1', 'score': 7.74}, {'connected_gene': 'TTC13', 'score': 3.64}, {'connected_gene': 'COG2', 'score': 2.27}, {'connected_gene': 'C1orf131', 'score': 1.62}, {'connected_gene': 'GNPAT', 'score': 1.29}, {'connected_gene': 'GC01P230904', 'score': 0.77}, {'connected_gene': 'RN7SL837P', 'score': 0.44}]
chr1	GH01I231292	231292455	231292569	0.22	[{'connected_gene': 'GC01M231293', 'score': 550.77}, {'connected_gene': 'GNPAT', 'score': 11.08}, {'connected_gene': 'C1orf131', 'score': 11.08}, {'connected_gene': 'RNA5SP80', 'score': 0.39}]
chr1	GH01I231272	231272995	231273144	0.38	[{'connected_gene': 'GC01P231282', 'score': 0.44}, {'connected_gene': 'GNPAT', 'score': 0.29}, {'connected_gene': 'C1orf131', 'score': 0.29}]