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
NM_001145054	[[74641302, 74642745], [74642835, 74643054], [74643137, 74643368], [74644508, 74644844]]	[[74641455, 74642745], [74642835, 74643054], [74643137, 74643368], [74644508, 74644535]]
NM_001316766	[[74641302, 74643368], [74648669, 74648757]]	[[74641455, 74643018]]
NM_001316764	[[74641302, 74643054], [74643137, 74643368], [74648669, 74648757]]	[[74641455, 74643054], [74643137, 74643368], [74648669, 74648687]]
NM_001316765	[[74641302, 74643054], [74643284, 74643368], [74648669, 74648757]]	[[74641455, 74643054], [74643284, 74643368], [74648669, 74648687]]

Promoter

Chrom	Start	End	Description
chr2	74645745	74645765	CAGE_peak_1_at_C2orf81_5end
chr2	74645780	74645793	CAGE_peak_3_at_C2orf81_5end
chr2	74648702	74648782	CAGE_peak_2_at_C2orf81_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I074420	74420057	74428198	2.44	[{'connected_gene': 'WDR54', 'score': 550.77}, {'connected_gene': 'ENSG00000272183', 'score': 20.38}, {'connected_gene': 'LBX2', 'score': 13.94}, {'connected_gene': 'LBX2-AS1', 'score': 13.85}, {'connected_gene': 'C2orf81', 'score': 3.19}, {'connected_gene': 'SLC4A5', 'score': 1.83}, {'connected_gene': 'DCTN1', 'score': 1.76}, {'connected_gene': 'ENSG00000159239', 'score': 0.77}, {'connected_gene': 'GC02M074419', 'score': 0.77}, {'connected_gene': 'PIR40772', 'score': 0.77}, {'connected_gene': 'RTKN', 'score': 0.37}]
chr2	GH02I074328	74328199	74328258	0.73	[{'connected_gene': 'SLC4A5', 'score': 550.37}, {'connected_gene': 'RTKN', 'score': 10.26}, {'connected_gene': 'C2orf81', 'score': 9.67}, {'connected_gene': 'WDR54', 'score': 9.67}, {'connected_gene': 'ENSG00000159239', 'score': 9.67}, {'connected_gene': 'RNU6-542P', 'score': 0.44}, {'connected_gene': 'ENSG00000264324', 'score': 0.28}]
chr2	GH02I074266	74266714	74267895	0.84	[{'connected_gene': 'SLC4A5', 'score': 10.91}, {'connected_gene': 'C2orf81', 'score': 9.96}, {'connected_gene': 'WDR54', 'score': 9.96}, {'connected_gene': 'ENSG00000159239', 'score': 9.96}, {'connected_gene': 'RTKN', 'score': 9.95}, {'connected_gene': 'KRT18P26', 'score': 0.26}, {'connected_gene': 'GC02P074217', 'score': 0.23}, {'connected_gene': 'ENSG00000264324', 'score': 0.15}]
chr2	GH02I074261	74261634	74261783	0.69	[{'connected_gene': 'SLC4A5', 'score': 10.36}, {'connected_gene': 'C2orf81', 'score': 9.68}, {'connected_gene': 'WDR54', 'score': 9.68}, {'connected_gene': 'ENSG00000159239', 'score': 9.68}, {'connected_gene': 'RTKN', 'score': 9.67}, {'connected_gene': 'KRT18P26', 'score': 0.25}, {'connected_gene': 'GC02P074217', 'score': 0.25}, {'connected_gene': 'ENSG00000264324', 'score': 0.15}]
chr2	GH02I074250	74250214	74250363	0.6	[{'connected_gene': 'SLC4A5', 'score': 10.59}, {'connected_gene': 'BOLA3', 'score': 10.5}, {'connected_gene': 'BOLA3-AS1', 'score': 10.5}, {'connected_gene': 'C2orf81', 'score': 9.87}, {'connected_gene': 'WDR54', 'score': 9.87}, {'connected_gene': 'ENSG00000159239', 'score': 9.87}, {'connected_gene': 'RTKN', 'score': 9.86}, {'connected_gene': 'GC02P074217', 'score': 0.29}, {'connected_gene': 'KRT18P26', 'score': 0.22}, {'connected_gene': 'ENSG00000264324', 'score': 0.14}]
chr2	GH02I074397	74397103	74397183	0.22	[{'connected_gene': 'C2orf81', 'score': 11.32}, {'connected_gene': 'WDR54', 'score': 11.32}, {'connected_gene': 'ENSG00000159239', 'score': 11.32}, {'connected_gene': 'RTKN', 'score': 11.23}, {'connected_gene': 'BOLA3', 'score': 9.11}, {'connected_gene': 'BOLA3-AS1', 'score': 9.11}, {'connected_gene': 'DCTN1', 'score': 0.44}, {'connected_gene': 'ENSG00000234521', 'score': 0.37}]
chr2	GH02I074421	74419801	74420000	0.38	[{'connected_gene': 'C2orf81', 'score': 550.77}, {'connected_gene': 'WDR54', 'score': 550.77}, {'connected_gene': 'ENSG00000159239', 'score': 550.77}, {'connected_gene': 'PIR40772', 'score': 550.77}, {'connected_gene': 'GC02M074419', 'score': 550.77}, {'connected_gene': 'HMGA1P8', 'score': 550.77}]
chr2	GH02I074417	74417611	74417670	0.5	[{'connected_gene': 'C2orf81', 'score': 550.77}, {'connected_gene': 'PIR49274', 'score': 550.77}, {'connected_gene': 'HMGA1P8', 'score': 550.77}, {'connected_gene': 'ENSG00000159239', 'score': 0.77}]
chr2	GH02I074219	74219529	74219927	0.47	[{'connected_gene': 'BOLA3', 'score': 10.74}, {'connected_gene': 'BOLA3-AS1', 'score': 10.74}, {'connected_gene': 'SLC4A5', 'score': 10.16}, {'connected_gene': 'C2orf81', 'score': 9.56}, {'connected_gene': 'WDR54', 'score': 9.56}, {'connected_gene': 'ENSG00000159239', 'score': 9.56}, {'connected_gene': 'RTKN', 'score': 9.55}, {'connected_gene': 'GC02P074217', 'score': 0.77}, {'connected_gene': 'KRT18P26', 'score': 0.17}, {'connected_gene': 'ENSG00000264324', 'score': 0.11}]
chr2	GH02I074575	74575378	74578799	1.4	[{'connected_gene': 'DOK1', 'score': 18.07}, {'connected_gene': 'LOXL3', 'score': 12.36}, {'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'DQX1', 'score': 11.07}, {'connected_gene': 'TLX2', 'score': 11.03}, {'connected_gene': 'PCGF1', 'score': 11.02}, {'connected_gene': 'LBX2', 'score': 10.94}, {'connected_gene': 'CCDC142', 'score': 10.9}, {'connected_gene': 'TTC31', 'score': 10.9}, {'connected_gene': 'RTKN', 'score': 10.38}, {'connected_gene': 'C2orf81', 'score': 9.78}, {'connected_gene': 'WDR54', 'score': 9.78}, {'connected_gene': 'ENSG00000159239', 'score': 9.78}, {'connected_gene': 'MOB1A', 'score': 1.26}, {'connected_gene': 'GC02M074608', 'score': 0.31}, {'connected_gene': 'GC02M074606', 'score': 0.31}, {'connected_gene': 'M1AP', 'score': 0.19}]
chr2	GH02I074419	74419201	74419400	0.2	[{'connected_gene': 'HMGA1P8', 'score': 550.77}, {'connected_gene': 'C2orf81', 'score': 0.77}, {'connected_gene': 'ENSG00000159239', 'score': 0.77}, {'connected_gene': 'PIR40772', 'score': 0.77}, {'connected_gene': 'GC02M074419', 'score': 0.77}]
chr2	GH02I074414	74414270	74416480	0.74	[{'connected_gene': 'PIR49274', 'score': 550.77}, {'connected_gene': 'ENSG00000234521', 'score': 550.77}, {'connected_gene': 'ENSG00000272183', 'score': 15.27}, {'connected_gene': 'INO80B', 'score': 4.81}, {'connected_gene': 'C2orf81', 'score': 0.44}, {'connected_gene': 'ENSG00000159239', 'score': 0.44}]
chr2	GH02I074363	74363777	74366698	0.31	[{'connected_gene': 'ENSG00000264324', 'score': 550.77}, {'connected_gene': 'SLC4A5', 'score': 11.47}, {'connected_gene': 'RTKN', 'score': 10.35}, {'connected_gene': 'C2orf81', 'score': 10.34}, {'connected_gene': 'WDR54', 'score': 10.34}, {'connected_gene': 'ENSG00000159239', 'score': 10.34}, {'connected_gene': 'INO80B', 'score': 4.57}, {'connected_gene': 'GC02M074371', 'score': 0.39}, {'connected_gene': 'DCTN1', 'score': 0.31}]
chr2	GH02I074334	74334974	74335103	0.72	[{'connected_gene': 'ENSG00000272183', 'score': 12.17}, {'connected_gene': 'C2orf81', 'score': 10.42}, {'connected_gene': 'WDR54', 'score': 10.42}, {'connected_gene': 'ENSG00000159239', 'score': 10.42}, {'connected_gene': 'RTKN', 'score': 10.4}, {'connected_gene': 'SLC4A5', 'score': 0.44}, {'connected_gene': 'RNU6-542P', 'score': 0.37}, {'connected_gene': 'ENSG00000264324', 'score': 0.31}]
chr2	GH02I074452	74452099	74453703	0.52	[{'connected_gene': 'GC02M074442', 'score': 550.77}, {'connected_gene': 'GC02M074444', 'score': 550.77}, {'connected_gene': 'C2orf81', 'score': 11.79}, {'connected_gene': 'WDR54', 'score': 11.79}, {'connected_gene': 'ENSG00000159239', 'score': 11.79}, {'connected_gene': 'RTKN', 'score': 0.39}]
chr2	GH02I074372	74372730	74375248	1.62	[{'connected_gene': 'GC02M074371', 'score': 550.77}, {'connected_gene': 'DCTN1', 'score': 550.37}, {'connected_gene': 'SLC4A5', 'score': 11.28}, {'connected_gene': 'C2orf81', 'score': 10.67}, {'connected_gene': 'WDR54', 'score': 10.67}, {'connected_gene': 'ENSG00000159239', 'score': 10.67}, {'connected_gene': 'RTKN', 'score': 10.63}, {'connected_gene': 'BOLA3', 'score': 9.91}, {'connected_gene': 'BOLA3-AS1', 'score': 9.91}, {'connected_gene': 'ENSG00000272183', 'score': 7.63}, {'connected_gene': 'MOGS', 'score': 5.04}, {'connected_gene': 'ENSG00000264324', 'score': 0.39}]