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
ENST00000531258	[[102267202, 102267324], [102267664, 102267808], [102268763, 102268859], [102275852, 102275976], [102276630, 102276717], [102283733, 102283896], [102286155, 102286311], [102286731, 102286831], [102289136, 102289263], [102289523, 102289638]]	[[102283845, 102283896], [102286155, 102286311], [102286731, 102286831], [102289136, 102289263], [102289523, 102289608]]
ENST00000464651	[[102283496, 102283686], [102286155, 102286355]]	None
ENST00000299166	[[102283496, 102283686], [102286155, 102286311], [102286731, 102286831], [102289136, 102289263], [102289523, 102289621]]	[[102283593, 102283686], [102286155, 102286311], [102286731, 102286831], [102289136, 102289263], [102289523, 102289608]]
ENST00000370322	[[102283499, 102283686], [102286155, 102286311], [102286731, 102286831], [102289136, 102289263], [102289614, 102289757]]	[[102283593, 102283686], [102286155, 102286311], [102286731, 102286831], [102289136, 102289255]]
ENST00000370320	[[102283693, 102283896], [102286155, 102286311], [102286731, 102286831], [102289136, 102289263], [102289523, 102289621]]	[[102283845, 102283896], [102286155, 102286311], [102286731, 102286831], [102289136, 102289263], [102289523, 102289608]]
ENST00000528425	[[102283789, 102283896], [102286155, 102286311], [102286731, 102286831], [102289122, 102289263], [102289523, 102289627]]	[[102289132, 102289263], [102289523, 102289608]]
ENST00000466088	[[102285805, 102286311], [102286731, 102286831], [102289136, 102289263], [102289523, 102289619]]	None
ENST00000529437	[[102286473, 102286831], [102289136, 102289263], [102289523, 102289640]]	None
ENST00000531418	[[102286500, 102286831], [102289122, 102289263], [102289523, 102289636]]	None
ENST00000531189	[[102288799, 102289263], [102289523, 102289636]]	None
NM_001284367	[[102283485, 102283896], [102286155, 102286311], [102286731, 102286831], [102289136, 102289263], [102289523, 102289680]]	[[102283845, 102283896], [102286155, 102286311], [102286731, 102286831], [102289136, 102289263], [102289523, 102289608]]
NM_005004	[[102283485, 102283686], [102286155, 102286311], [102286731, 102286831], [102289136, 102289263], [102289523, 102289680]]	[[102283593, 102283686], [102286155, 102286311], [102286731, 102286831], [102289136, 102289263], [102289523, 102289608]]
NM_001284368	[[102283485, 102283686], [102286155, 102286311], [102286731, 102286831], [102289136, 102289263], [102289614, 102289680]]	[[102283593, 102283686], [102286155, 102286311], [102286731, 102286831], [102289136, 102289255]]

Promoter

Chrom	Start	End	Description
chr10	102289611	102289643	CAGE_peak_1_at_NDUFB8_5end,CAGE_peak_1_at_SEC31B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I100339	100338802	100339754	1.09	[{'connected_gene': 'PKD2L1', 'score': 24.85}, {'connected_gene': 'SEC31B', 'score': 10.07}, {'connected_gene': 'HIF1AN', 'score': 10.07}, {'connected_gene': 'NDUFB8', 'score': 10.07}, {'connected_gene': 'ENSG00000255339', 'score': 10.07}, {'connected_gene': 'ENSG00000231188', 'score': 0.44}, {'connected_gene': 'BLOC1S2', 'score': 0.23}]
chr10	GH10I100369	100369042	100375845	2.14	[{'connected_gene': 'OLMALINC', 'score': 550.77}, {'connected_gene': 'PHBP9', 'score': 24.82}, {'connected_gene': 'SEC31B', 'score': 21.93}, {'connected_gene': 'EBAG9P1', 'score': 19.65}, {'connected_gene': 'LOC101927300', 'score': 13.51}, {'connected_gene': 'SCD', 'score': 12.9}, {'connected_gene': 'ENSG00000231188', 'score': 12.9}, {'connected_gene': 'CHUK', 'score': 12.04}, {'connected_gene': 'ENSG00000272572', 'score': 11.31}, {'connected_gene': 'NDUFB8', 'score': 10.5}, {'connected_gene': 'HIF1AN', 'score': 10.5}, {'connected_gene': 'ENSG00000255339', 'score': 10.5}, {'connected_gene': 'LZTS2', 'score': 9.8}, {'connected_gene': 'PDZD7', 'score': 9.67}, {'connected_gene': 'PKD2L1', 'score': 5.7}, {'connected_gene': 'CWF19L1', 'score': 1.52}]
chr10	GH10I100655	100654448	100654753	1.27	[{'connected_gene': 'MRPL43', 'score': 26.34}, {'connected_gene': 'EBAG9P1', 'score': 25.61}, {'connected_gene': 'PHBP9', 'score': 21.43}, {'connected_gene': 'TWNK', 'score': 19.62}, {'connected_gene': 'DNMBP', 'score': 19.46}, {'connected_gene': 'SLC25A28', 'score': 9.85}, {'connected_gene': 'ENSG00000274660', 'score': 0.39}, {'connected_gene': 'NDUFB8', 'score': 0.13}]
chr10	GH10I100495	100495980	100496598	0.2	[{'connected_gene': 'WNT8B', 'score': 11.4}, {'connected_gene': 'ENSG00000231188', 'score': 11.29}, {'connected_gene': 'SCD', 'score': 11.29}, {'connected_gene': 'SEC31B', 'score': 11.18}, {'connected_gene': 'NDUFB8', 'score': 11.13}, {'connected_gene': 'HIF1AN', 'score': 11.13}, {'connected_gene': 'ENSG00000255339', 'score': 11.13}, {'connected_gene': 'GC10M100500', 'score': 0.77}, {'connected_gene': 'LOC105378452', 'score': 0.37}]
chr10	GH10I100497	100497004	100498114	0.2	[{'connected_gene': 'WNT8B', 'score': 11.4}, {'connected_gene': 'ENSG00000231188', 'score': 11.28}, {'connected_gene': 'SCD', 'score': 11.28}, {'connected_gene': 'SEC31B', 'score': 11.18}, {'connected_gene': 'NDUFB8', 'score': 11.13}, {'connected_gene': 'HIF1AN', 'score': 11.13}, {'connected_gene': 'ENSG00000255339', 'score': 11.13}, {'connected_gene': 'GC10M100500', 'score': 0.77}, {'connected_gene': 'LOC105378452', 'score': 0.37}]
chr10	GH10I100376	100376201	100376600	0.66	[{'connected_gene': 'SCD', 'score': 12.25}, {'connected_gene': 'ENSG00000231188', 'score': 12.24}, {'connected_gene': 'SEC31B', 'score': 10.02}, {'connected_gene': 'NDUFB8', 'score': 10.02}, {'connected_gene': 'HIF1AN', 'score': 10.02}, {'connected_gene': 'ENSG00000255339', 'score': 10.02}, {'connected_gene': 'PIR60373', 'score': 0.77}, {'connected_gene': 'OLMALINC', 'score': 0.77}]
chr10	GH10I100535	100535160	100536713	2.04	[{'connected_gene': 'HIF1AN', 'score': 556.79}, {'connected_gene': 'SEC31B', 'score': 39.83}, {'connected_gene': 'PHBP9', 'score': 14.0}, {'connected_gene': 'CWF19L1', 'score': 12.45}, {'connected_gene': 'SLC25A28', 'score': 12.13}, {'connected_gene': 'MRPL43', 'score': 9.69}, {'connected_gene': 'SLF2', 'score': 9.55}, {'connected_gene': 'SEMA4G', 'score': 9.2}, {'connected_gene': 'NDUFB8', 'score': 0.44}, {'connected_gene': 'ENSG00000274660', 'score': 0.12}]
chr10	GH10I100633	100633769	100633787	0.23	[{'connected_gene': 'PAX2', 'score': 11.65}, {'connected_gene': 'WNT8B', 'score': 1.4}, {'connected_gene': 'SEMA4G', 'score': 1.25}, {'connected_gene': 'ENSG00000274660', 'score': 0.29}, {'connected_gene': 'NDUFB8', 'score': 0.15}]
chr10	GH10I100625	100625824	100626033	0.38	[{'connected_gene': 'PAX2', 'score': 10.64}, {'connected_gene': 'ENSG00000274660', 'score': 0.26}, {'connected_gene': 'NDUFB8', 'score': 0.15}]
chr10	GH10I100628	100628230	100628456	0.4	[{'connected_gene': 'PAX2', 'score': 11.65}, {'connected_gene': 'ENSG00000274660', 'score': 0.28}, {'connected_gene': 'NDUFB8', 'score': 0.15}]
chr10	GH10I100626	100625298	100625496	0.4	[{'connected_gene': 'PAX2', 'score': 10.63}, {'connected_gene': 'ENSG00000231188', 'score': 4.49}, {'connected_gene': 'ENSG00000274660', 'score': 0.26}, {'connected_gene': 'NDUFB8', 'score': 0.15}]
chr10	GH10I100627	100626184	100626222	0.31	[{'connected_gene': 'PAX2', 'score': 10.64}, {'connected_gene': 'ENSG00000274660', 'score': 0.26}, {'connected_gene': 'NDUFB8', 'score': 0.15}]
chr10	GH10I100528	100528087	100530555	1.97	[{'connected_gene': 'NDUFB8', 'score': 550.77}, {'connected_gene': 'HIF1AN', 'score': 550.77}, {'connected_gene': 'ENSG00000255339', 'score': 550.77}, {'connected_gene': 'SEC31B', 'score': 46.7}]
chr10	GH10I100525	100525238	100525596	0.26	[{'connected_gene': 'NDUFB8', 'score': 0.77}, {'connected_gene': 'HIF1AN', 'score': 0.77}, {'connected_gene': 'ENSG00000255339', 'score': 0.77}, {'connected_gene': 'SEC31B', 'score': 0.44}]
chr10	GH10I100481	100481449	100483400	1.14	[{'connected_gene': 'SEC31B', 'score': 57.94}, {'connected_gene': 'MRPL43', 'score': 17.16}, {'connected_gene': 'NDUFB8', 'score': 11.1}, {'connected_gene': 'HIF1AN', 'score': 11.1}, {'connected_gene': 'ENSG00000255339', 'score': 11.1}, {'connected_gene': 'SLC25A28', 'score': 10.78}, {'connected_gene': 'LZTS2', 'score': 10.05}, {'connected_gene': 'LOC105378452', 'score': 0.77}, {'connected_gene': 'WNT8B', 'score': 0.37}, {'connected_gene': 'GC10M100500', 'score': 0.37}]
chr10	GH10I100434	100433864	100434053	0.96	[{'connected_gene': 'SEC31B', 'score': 54.37}, {'connected_gene': 'ENSG00000231188', 'score': 12.24}, {'connected_gene': 'SCD', 'score': 12.24}, {'connected_gene': 'WNT8B', 'score': 11.65}, {'connected_gene': 'NDUFB8', 'score': 10.42}, {'connected_gene': 'HIF1AN', 'score': 10.42}, {'connected_gene': 'ENSG00000255339', 'score': 10.42}, {'connected_gene': 'ENSG00000212325', 'score': 0.28}, {'connected_gene': 'OLMALINC', 'score': 0.21}]
chr10	GH10I100523	100523728	100524742	0.38	[{'connected_gene': 'SEC31B', 'score': 40.08}, {'connected_gene': 'HIF1AN', 'score': 0.77}, {'connected_gene': 'NDUFB8', 'score': 0.44}, {'connected_gene': 'ENSG00000255339', 'score': 0.44}]
chr10	GH10I100338	100338544	100338713	0.93	[{'connected_gene': 'SEC31B', 'score': 10.07}, {'connected_gene': 'NDUFB8', 'score': 10.07}, {'connected_gene': 'HIF1AN', 'score': 10.07}, {'connected_gene': 'ENSG00000255339', 'score': 10.07}, {'connected_gene': 'ENSG00000231188', 'score': 0.44}, {'connected_gene': 'PKD2L1', 'score': 0.44}, {'connected_gene': 'BLOC1S2', 'score': 0.23}]
chr10	GH10I100555	100555004	100555153	0.43	[{'connected_gene': 'SEC31B', 'score': 50.43}, {'connected_gene': 'NDUFB8', 'score': 11.17}, {'connected_gene': 'HIF1AN', 'score': 11.17}, {'connected_gene': 'ENSG00000255339', 'score': 11.17}, {'connected_gene': 'ENSG00000274660', 'score': 0.14}]
chr10	GH10I100615	100615129	100615721	0.6	[{'connected_gene': 'SEC31B', 'score': 6.78}, {'connected_gene': 'ENSG00000274660', 'score': 0.23}, {'connected_gene': 'NDUFB8', 'score': 0.17}]
chr10	GH10I100569	100569622	100570600	1.01	[{'connected_gene': 'SEC31B', 'score': 48.98}, {'connected_gene': 'NDUFB8', 'score': 0.26}, {'connected_gene': 'ENSG00000274660', 'score': 0.15}]
chr10	GH10I100561	100561801	100563589	1.07	[{'connected_gene': 'SEC31B', 'score': 46.06}, {'connected_gene': 'PHBP9', 'score': 12.38}, {'connected_gene': 'CWF19L1', 'score': 10.94}, {'connected_gene': 'CHUK', 'score': 10.12}, {'connected_gene': 'DNMBP', 'score': 9.96}, {'connected_gene': 'NDUFB8', 'score': 0.29}, {'connected_gene': 'ENSG00000274660', 'score': 0.15}]
chr10	GH10I100612	100612457	100614449	0.6	[{'connected_gene': 'SEC31B', 'score': 6.3}, {'connected_gene': 'PHBP9', 'score': 4.29}, {'connected_gene': 'ENSG00000274660', 'score': 0.23}, {'connected_gene': 'NDUFB8', 'score': 0.18}]
chr10	GH10I100642	100642065	100643080	0.46	[{'connected_gene': 'EBAG9P1', 'score': 11.47}, {'connected_gene': 'LZTS2', 'score': 11.46}, {'connected_gene': 'SLF2', 'score': 10.33}, {'connected_gene': 'SEC31B', 'score': 10.05}, {'connected_gene': 'HIF1AN', 'score': 4.79}, {'connected_gene': 'ENSG00000274660', 'score': 0.34}, {'connected_gene': 'NDUFB8', 'score': 0.14}]
chr10	GH10I100433	100433601	100433801	0.92	[{'connected_gene': 'ENSG00000231188', 'score': 12.24}, {'connected_gene': 'SCD', 'score': 12.24}, {'connected_gene': 'WNT8B', 'score': 11.65}, {'connected_gene': 'SEC31B', 'score': 10.43}, {'connected_gene': 'NDUFB8', 'score': 10.42}, {'connected_gene': 'HIF1AN', 'score': 10.42}, {'connected_gene': 'ENSG00000255339', 'score': 10.42}, {'connected_gene': 'ENSG00000212325', 'score': 0.28}, {'connected_gene': 'OLMALINC', 'score': 0.21}]
chr10	GH10I100659	100659362	100659974	0.43	[{'connected_gene': 'ENSG00000274660', 'score': 0.44}, {'connected_gene': 'NDUFB8', 'score': 0.13}]
chr10	GH10I100654	100654960	100655821	1.52	[{'connected_gene': 'ENSG00000274660', 'score': 0.39}, {'connected_gene': 'NDUFB8', 'score': 0.13}]
chr10	GH10I100637	100637904	100638053	0.54	[{'connected_gene': 'ENSG00000274660', 'score': 0.31}, {'connected_gene': 'NDUFB8', 'score': 0.14}]
chr10	GH10I100378	100378004	100378153	0.79	[{'connected_gene': 'PIR60373', 'score': 550.77}, {'connected_gene': 'SEC31B', 'score': 14.31}, {'connected_gene': 'ENSG00000231188', 'score': 12.24}, {'connected_gene': 'SCD', 'score': 12.24}, {'connected_gene': 'NDUFB8', 'score': 10.02}, {'connected_gene': 'HIF1AN', 'score': 10.02}, {'connected_gene': 'ENSG00000255339', 'score': 10.02}, {'connected_gene': 'OLMALINC', 'score': 0.77}]