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
ENST00000258499	[[95910335, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928102], [95945047, 95945266]]	[[95911929, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928032]]
ENST00000393091	[[95911051, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928102], [95942546, 95942620]]	[[95911929, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928032]]
ENST00000552440	[[95911918, 95912129], [95918455, 95918564], [95926604, 95928102]]	[[95918501, 95918564], [95926604, 95928032]]
ENST00000537435	[[95911929, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928102], [95941758, 95942048]]	[[95911929, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928032]]
ENST00000552237	[[95918295, 95918564], [95922582, 95922776]]	None
ENST00000551837	[[95927539, 95928102], [95929148, 95929202], [95942546, 95942595]]	[[95927539, 95928032]]
ENST00000549639	[[95927698, 95928102], [95942301, 95942574]]	[[95927698, 95928032]]
ENST00000547951	[[95940225, 95940766], [95942301, 95942445]]	None
NM_032147	[[95910335, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928102], [95945047, 95945266]]	[[95911929, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928032]]
NM_001278393	[[95910335, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928102], [95941758, 95942048]]	[[95911929, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928032]]
NM_001347937	[[95910335, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928102], [95942301, 95942620]]	[[95911929, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928032]]
NR_144948	[[95910335, 95912129], [95914772, 95914978], [95922582, 95922778], [95926604, 95928102], [95942301, 95942620]]	None
NR_144944	[[95910335, 95912129], [95914772, 95914978], [95918455, 95918564], [95926604, 95928102], [95942301, 95942620]]	None
NM_001347936	[[95910335, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928102], [95929148, 95929202], [95942546, 95942620]]	[[95911929, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928032]]
NR_125360	[[95910335, 95912129], [95914772, 95914978], [95918455, 95918564], [95926604, 95928102], [95929148, 95929202], [95942546, 95942620]]	None
NR_144946	[[95910335, 95912129], [95914772, 95914978], [95917081, 95917374], [95918455, 95918564], [95922582, 95922778], [95926604, 95928102], [95942546, 95942620]]	None
NM_001042403	[[95910335, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928102], [95942546, 95942620]]	[[95911929, 95912129], [95914772, 95914978], [95918455, 95918564], [95922582, 95922778], [95926604, 95928032]]
NR_144945	[[95910335, 95912129], [95914772, 95914978], [95922582, 95922778], [95926604, 95928102], [95942546, 95942620]]	None
NR_144947	[[95910335, 95912129], [95914772, 95914978], [95926604, 95928102], [95942546, 95942620]]	None

Promoter

Chrom	Start	End	Description
chr12	95941987	95942019	CAGE_peak_9_at_USP44_5end
chr12	95942538	95942549	CAGE_peak_7_at_USP44_5end
chr12	95942563	95942595	CAGE_peak_1_at_USP44_5end
chr12	95942613	95942622	CAGE_peak_8_at_USP44_5end
chr12	95945132	95945163	CAGE_peak_2_at_USP44_5end
chr12	95945196	95945210	CAGE_peak_5_at_USP44_5end
chr12	95945213	95945244	CAGE_peak_3_at_USP44_5end
chr12	95945246	95945270	CAGE_peak_4_at_USP44_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I095545	95545445	95550166	2.34	[{'connected_gene': 'USP44', 'score': 568.28}, {'connected_gene': 'NR2C1', 'score': 23.02}, {'connected_gene': 'METAP2', 'score': 0.19}]
chr12	GH12I095446	95446185	95447270	1.03	[{'connected_gene': 'USP44', 'score': 6.11}, {'connected_gene': 'SNRPF', 'score': 4.44}, {'connected_gene': 'METAP2', 'score': 2.37}, {'connected_gene': 'LOC105369917', 'score': 0.77}, {'connected_gene': 'GC12M095468', 'score': 0.34}]
chr12	GH12I095538	95538825	95538974	0.31	[{'connected_gene': 'USP44', 'score': 0.39}, {'connected_gene': 'METAP2', 'score': 0.2}]
chr12	GH12I095544	95544945	95545054	0.4	[{'connected_gene': 'USP44', 'score': 0.44}, {'connected_gene': 'METAP2', 'score': 0.19}]
chr12	GH12I095522	95522845	95522994	0.31	[{'connected_gene': 'USP44', 'score': 0.31}, {'connected_gene': 'METAP2', 'score': 0.25}]
chr12	GH12I095534	95534401	95534800	0.94	[{'connected_gene': 'USP44', 'score': 0.37}, {'connected_gene': 'METAP2', 'score': 0.21}]
chr12	GH12I095593	95593140	95594593	0.4	[{'connected_gene': 'USP44', 'score': 12.15}, {'connected_gene': 'ENSG00000212448', 'score': 0.34}, {'connected_gene': 'PGAM1P5', 'score': 0.26}]
chr12	GH12I095600	95600595	95602628	0.66	[{'connected_gene': 'USP44', 'score': 4.64}, {'connected_gene': 'ENSG00000212448', 'score': 0.37}, {'connected_gene': 'PGAM1P5', 'score': 0.23}]
chr12	GH12I095550	95550445	95552800	1.64	[{'connected_gene': 'USP44', 'score': 562.35}, {'connected_gene': 'PGAM1P5', 'score': 550.77}, {'connected_gene': 'ENSG00000212448', 'score': 0.2}]
chr12	GH12I095552	95552982	95555027	0.8	[{'connected_gene': 'USP44', 'score': 11.14}, {'connected_gene': 'PGAM1P5', 'score': 0.77}, {'connected_gene': 'ENSG00000212448', 'score': 0.21}]
chr12	GH12I095555	95555052	95555423	0.49	[{'connected_gene': 'USP44', 'score': 6.08}, {'connected_gene': 'PGAM1P5', 'score': 0.77}, {'connected_gene': 'ENSG00000212448', 'score': 0.21}]
chr12	GH12I095572	95572366	95573090	0.31	[{'connected_gene': 'USP44', 'score': 5.13}, {'connected_gene': 'PGAM1P5', 'score': 0.34}, {'connected_gene': 'ENSG00000212448', 'score': 0.26}]
chr12	GH12I095556	95556239	95556753	0.2	[{'connected_gene': 'USP44', 'score': 12.35}, {'connected_gene': 'PGAM1P5', 'score': 0.77}, {'connected_gene': 'ENSG00000212448', 'score': 0.21}]
chr12	GH12I095652	95652519	95654945	1.59	[{'connected_gene': 'NR2C1', 'score': 61.55}, {'connected_gene': 'ELK3', 'score': 40.26}, {'connected_gene': 'METAP2', 'score': 31.25}, {'connected_gene': 'SNRPF', 'score': 30.34}, {'connected_gene': 'LTA4H', 'score': 19.44}, {'connected_gene': 'NTN4', 'score': 11.54}, {'connected_gene': 'USP44', 'score': 10.66}, {'connected_gene': 'RPL29P26', 'score': 10.06}, {'connected_gene': 'VEZT', 'score': 10.06}, {'connected_gene': 'ENSG00000212448', 'score': 0.28}, {'connected_gene': 'GC12M095719', 'score': 0.2}, {'connected_gene': 'PGAM1P5', 'score': 0.15}]
chr12	GH12I094953	94953417	94955034	0.89	[{'connected_gene': 'FGD6', 'score': 8.36}, {'connected_gene': 'NDUFA12', 'score': 7.71}, {'connected_gene': 'USP44', 'score': 5.26}, {'connected_gene': 'GC12M094957', 'score': 0.34}, {'connected_gene': 'LOC105369915', 'score': 0.31}]
chr12	GH12I095211	95211872	95220522	2.8	[{'connected_gene': 'FGD6', 'score': 562.98}, {'connected_gene': 'VEZT', 'score': 550.77}, {'connected_gene': 'METAP2', 'score': 13.29}, {'connected_gene': 'USP44', 'score': 9.98}, {'connected_gene': 'GC12P095210', 'score': 0.44}]
chr12	GH12I094832	94832601	94834147	1.47	[{'connected_gene': 'KRT19P2', 'score': 550.77}, {'connected_gene': 'GC12P094845', 'score': 550.77}, {'connected_gene': 'GC12P094846', 'score': 550.77}, {'connected_gene': 'MIR492', 'score': 550.77}, {'connected_gene': 'NR2C1', 'score': 11.1}, {'connected_gene': 'ENSG00000258365', 'score': 10.47}, {'connected_gene': 'USP44', 'score': 10.34}, {'connected_gene': 'ENSG00000271382', 'score': 10.31}, {'connected_gene': 'CEP83', 'score': 2.6}, {'connected_gene': 'GC12M094805', 'score': 0.37}]
chr12	GH12I096486	96486843	96490434	1.72	[{'connected_gene': 'CFAP54', 'score': 550.77}, {'connected_gene': 'USP44', 'score': 13.98}, {'connected_gene': 'CDK17', 'score': 11.39}, {'connected_gene': 'ELK3', 'score': 10.91}, {'connected_gene': 'SNRPF', 'score': 10.58}, {'connected_gene': 'LTA4H', 'score': 9.84}, {'connected_gene': 'ENSG00000258272', 'score': 0.77}, {'connected_gene': 'GC12M096423', 'score': 0.13}]
chr12	GH12I095941	95941989	95944343	2.03	[{'connected_gene': 'AMDHD1', 'score': 593.99}, {'connected_gene': 'CCDC38', 'score': 550.77}, {'connected_gene': 'NR2C1', 'score': 66.92}, {'connected_gene': 'USP44', 'score': 22.56}, {'connected_gene': 'ELK3', 'score': 21.23}, {'connected_gene': 'METAP2', 'score': 20.69}, {'connected_gene': 'SNRPF', 'score': 10.73}, {'connected_gene': 'VEZT', 'score': 10.15}, {'connected_gene': 'LTA4H', 'score': 9.94}, {'connected_gene': 'HAL', 'score': 6.23}, {'connected_gene': 'GC12P095914', 'score': 0.31}]
chr12	GH12I095454	95454313	95455359	0.69	[{'connected_gene': 'METAP2', 'score': 8.45}, {'connected_gene': 'USP44', 'score': 5.58}, {'connected_gene': 'GC12M095468', 'score': 0.39}, {'connected_gene': 'LOC105369917', 'score': 0.39}]
chr12	GH12I095472	95472668	95475851	1.56	[{'connected_gene': 'METAP2', 'score': 556.09}, {'connected_gene': 'ELK3', 'score': 10.84}, {'connected_gene': 'USP44', 'score': 5.36}]
chr12	GH12I096419	96419566	96432192	1.67	[{'connected_gene': 'RN7SKP11', 'score': 550.77}, {'connected_gene': 'USP44', 'score': 31.77}, {'connected_gene': 'ELK3', 'score': 31.75}, {'connected_gene': 'METAP2', 'score': 30.19}, {'connected_gene': 'CDK17', 'score': 11.68}, {'connected_gene': 'CFAP54', 'score': 11.06}, {'connected_gene': 'SNRPF', 'score': 10.58}, {'connected_gene': 'LTA4H', 'score': 9.85}, {'connected_gene': 'GC12P096416', 'score': 0.44}, {'connected_gene': 'ENSG00000258272', 'score': 0.22}, {'connected_gene': 'GC12M096423', 'score': 0.09}]
chr12	GH12I095442	95442460	95442570	0.22	[{'connected_gene': 'LOC105369917', 'score': 550.77}, {'connected_gene': 'USP44', 'score': 1.82}, {'connected_gene': 'GC12M095468', 'score': 0.31}]