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
ENST00000297578	[[104410862, 104412774], [104413743, 104413889], [104414168, 104414282], [104415391, 104415552], [104417003, 104417089], [104419861, 104420012], [104427011, 104427332]]	[[104412638, 104412774], [104413743, 104413889], [104414168, 104414282], [104415391, 104415552], [104417003, 104417089], [104419861, 104420012], [104427011, 104427165]]
ENST00000523256	[[104410862, 104412774], [104413743, 104413889], [104414168, 104414282], [104419861, 104420012], [104427011, 104427399]]	[[104414215, 104414282], [104419861, 104420012], [104427011, 104427165]]
ENST00000521645	[[104410862, 104412774], [104413743, 104413889], [104414168, 104414282], [104417003, 104417089], [104419861, 104420012], [104427011, 104427417]]	[[104414223, 104414282], [104417003, 104417089], [104419861, 104420012], [104427011, 104427165]]
ENST00000523866	[[104412285, 104412774], [104413743, 104413889], [104414168, 104414282], [104415391, 104415552], [104419861, 104420012], [104427011, 104427297]]	[[104415485, 104415552], [104419861, 104420012], [104427011, 104427165]]
ENST00000543107	[[104412285, 104412774], [104413743, 104413889], [104414168, 104414282], [104415391, 104415552], [104419861, 104420012], [104427011, 104427297]]	[[104412638, 104412774], [104413743, 104413889], [104414168, 104414282], [104415391, 104415547]]
ENST00000523701	[[104413714, 104413889], [104414168, 104414931]]	None
NR_102338	[[104410865, 104412774], [104413743, 104413889], [104414168, 104414282], [104415391, 104415552], [104417003, 104417089], [104419861, 104420012], [104425650, 104425759], [104427011, 104427563]]	None
NM_030780	[[104410865, 104412774], [104413743, 104413889], [104414168, 104414282], [104415391, 104415552], [104417003, 104417089], [104419861, 104420012], [104427011, 104427563]]	[[104412638, 104412774], [104413743, 104413889], [104414168, 104414282], [104415391, 104415552], [104417003, 104417089], [104419861, 104420012], [104427011, 104427165]]
NR_102337	[[104410865, 104412774], [104413743, 104413889], [104414168, 104414282], [104415391, 104415552], [104419861, 104420012], [104427011, 104427563]]	None

Promoter

Chrom	Start	End	Description
chr8	104427043	104427120	CAGE_peak_3_at_SLC25A32_5end
chr8	104427289	104427307	CAGE_peak_2_at_SLC25A32_5end
chr8	104427313	104427413	CAGE_peak_1_at_SLC25A32_5end
chr8	104427433	104427448	CAGE_peak_4_at_SLC25A32_5end
chr8	104427463	104427476	CAGE_peak_5_at_SLC25A32_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I103498	103498297	103502462	1.97	[{'connected_gene': 'RIMS2', 'score': 576.82}, {'connected_gene': 'LOC105375690', 'score': 563.08}, {'connected_gene': 'SLC25A32', 'score': 12.38}, {'connected_gene': 'ENSG00000271830', 'score': 0.37}]
chr8	GH08I103353	103353468	103354326	0.51	[{'connected_gene': 'FZD6', 'score': 15.19}, {'connected_gene': 'SLC25A32', 'score': 12.15}, {'connected_gene': 'RNU6-1011P', 'score': 11.19}, {'connected_gene': 'BAALC-AS1', 'score': 10.73}, {'connected_gene': 'ENSG00000266289', 'score': 7.37}, {'connected_gene': 'GC08P103357', 'score': 0.77}, {'connected_gene': 'GC08P103328', 'score': 0.31}]
chr8	GH08I103346	103346871	103350549	1.23	[{'connected_gene': 'FZD6', 'score': 24.14}, {'connected_gene': 'CTHRC1', 'score': 19.26}, {'connected_gene': 'BAALC-AS1', 'score': 15.04}, {'connected_gene': 'RNU6-1011P', 'score': 11.8}, {'connected_gene': 'LINC01181', 'score': 9.67}, {'connected_gene': 'DCAF13', 'score': 5.79}, {'connected_gene': 'ENSG00000266289', 'score': 5.14}, {'connected_gene': 'ATP6V1C1', 'score': 2.31}, {'connected_gene': 'AZIN1', 'score': 2.16}, {'connected_gene': 'SLC25A32', 'score': 1.42}, {'connected_gene': 'GC08P103357', 'score': 0.44}, {'connected_gene': 'GC08P103328', 'score': 0.34}]
chr8	GH08I103323	103323642	103327224	0.43	[{'connected_gene': 'FZD6', 'score': 26.58}, {'connected_gene': 'BAALC-AS1', 'score': 11.89}, {'connected_gene': 'RNU6-1011P', 'score': 11.55}, {'connected_gene': 'DCAF13', 'score': 11.22}, {'connected_gene': 'SLC25A32', 'score': 11.22}, {'connected_gene': 'CTHRC1', 'score': 6.47}, {'connected_gene': 'GC08P103328', 'score': 0.77}]
chr8	GH08I102751	102751001	102751200	0.93	[{'connected_gene': 'SLC25A32', 'score': 14.2}, {'connected_gene': 'FZD6', 'score': 13.4}, {'connected_gene': 'UBR5', 'score': 13.03}, {'connected_gene': 'KLF10', 'score': 11.58}, {'connected_gene': 'GC08P102794', 'score': 0.26}, {'connected_gene': 'ADI1P2', 'score': 0.21}]
chr8	GH08I103104	103104080	103106859	1.36	[{'connected_gene': 'KLF10', 'score': 11.82}, {'connected_gene': 'ATP6V1C1', 'score': 11.53}, {'connected_gene': 'BAALC', 'score': 4.35}, {'connected_gene': 'AZIN1', 'score': 3.5}, {'connected_gene': 'SLC25A32', 'score': 1.98}, {'connected_gene': 'MTCO2P4', 'score': 0.39}, {'connected_gene': 'LINC01181', 'score': 0.37}]
chr8	GH08I103137	103136418	103137962	1.08	[{'connected_gene': 'KLF10', 'score': 4.5}, {'connected_gene': 'ATP6V1C1', 'score': 2.95}, {'connected_gene': 'AZIN1', 'score': 2.79}, {'connected_gene': 'SLC25A32', 'score': 1.32}, {'connected_gene': 'BAALC-AS2', 'score': 0.77}, {'connected_gene': 'BAALC', 'score': 0.77}, {'connected_gene': 'LINC01181', 'score': 0.37}]
chr8	GH08I103080	103080862	103081052	0.3	[{'connected_gene': 'KLF10', 'score': 12.34}, {'connected_gene': 'LINC01181', 'score': 10.81}, {'connected_gene': 'ATP6V1C1', 'score': 7.79}, {'connected_gene': 'AZIN1', 'score': 4.06}, {'connected_gene': 'SLC25A32', 'score': 1.91}, {'connected_gene': 'DCAF13', 'score': 1.4}, {'connected_gene': 'MTND1P5', 'score': 0.77}, {'connected_gene': 'PIR47023', 'score': 0.39}]
chr8	GH08I103076	103076464	103076634	0.51	[{'connected_gene': 'KLF10', 'score': 11.69}, {'connected_gene': 'LINC01181', 'score': 10.81}, {'connected_gene': 'ATP6V1C1', 'score': 5.71}, {'connected_gene': 'AZIN1', 'score': 2.76}, {'connected_gene': 'SLC25A32', 'score': 1.76}, {'connected_gene': 'PIR47023', 'score': 0.44}, {'connected_gene': 'MTND1P5', 'score': 0.44}]
chr8	GH08I103020	103020042	103022270	2.06	[{'connected_gene': 'ATP6V1C1', 'score': 556.15}, {'connected_gene': 'ENSG00000254236', 'score': 554.95}, {'connected_gene': 'UBR5', 'score': 33.05}, {'connected_gene': 'FZD6', 'score': 23.85}, {'connected_gene': 'KLF10', 'score': 17.3}, {'connected_gene': 'SLC25A32', 'score': 14.23}, {'connected_gene': 'AZIN1', 'score': 7.02}]
chr8	GH08I102803	102803965	102811559	1.85	[{'connected_gene': 'UBR5', 'score': 42.1}, {'connected_gene': 'ENSG00000272037', 'score': 21.79}, {'connected_gene': 'KLF10', 'score': 13.16}, {'connected_gene': 'FZD6', 'score': 13.14}, {'connected_gene': 'SLC25A32', 'score': 12.11}, {'connected_gene': 'DCAF13', 'score': 11.55}, {'connected_gene': 'GASAL1', 'score': 11.5}, {'connected_gene': 'AZIN1', 'score': 5.43}, {'connected_gene': 'ENSG00000253385', 'score': 0.25}]
chr8	GH08I103405	103405778	103407393	0.76	[{'connected_gene': 'DCAF13', 'score': 14.6}, {'connected_gene': 'FZD6', 'score': 12.46}, {'connected_gene': 'CTHRC1', 'score': 11.45}, {'connected_gene': 'RNU6-1011P', 'score': 11.13}, {'connected_gene': 'LINC01181', 'score': 9.61}, {'connected_gene': 'SLC25A32', 'score': 6.83}, {'connected_gene': 'PIR39755', 'score': 0.39}]
chr8	GH08I103413	103413594	103416798	2.11	[{'connected_gene': 'DCAF13', 'score': 565.45}, {'connected_gene': 'SLC25A32', 'score': 550.77}, {'connected_gene': 'FZD6', 'score': 12.13}]
chr8	GH08I103512	103512133	103512322	0.69	[{'connected_gene': 'DCAF13', 'score': 11.59}, {'connected_gene': 'SLC25A32', 'score': 11.59}, {'connected_gene': 'LINC01181', 'score': 10.13}, {'connected_gene': 'FZD6', 'score': 10.1}, {'connected_gene': 'BAALC-AS1', 'score': 10.1}, {'connected_gene': 'RIMS2', 'score': 0.39}, {'connected_gene': 'LOC105375690', 'score': 0.39}, {'connected_gene': 'ENSG00000255105', 'score': 0.25}]
chr8	GH08I103444	103444630	103446488	0.89	[{'connected_gene': 'DCAF13', 'score': 26.7}, {'connected_gene': 'SLC25A32', 'score': 12.4}, {'connected_gene': 'RNU6-1011P', 'score': 10.42}, {'connected_gene': 'ENSG00000266289', 'score': 8.73}, {'connected_gene': 'ENSG00000261670', 'score': 0.37}]
chr8	GH08I103419	103419601	103420200	0.2	[{'connected_gene': 'DCAF13', 'score': 11.59}, {'connected_gene': 'SLC25A32', 'score': 0.77}, {'connected_gene': 'ENSG00000261670', 'score': 0.26}]
chr8	GH08I103371	103371001	103373806	2.32	[{'connected_gene': 'CTHRC1', 'score': 555.11}, {'connected_gene': 'DCAF13', 'score': 15.55}, {'connected_gene': 'FZD6', 'score': 10.69}, {'connected_gene': 'BAALC-AS1', 'score': 10.69}, {'connected_gene': 'LINC01181', 'score': 9.19}, {'connected_gene': 'SLC25A32', 'score': 4.54}, {'connected_gene': 'ENSG00000266289', 'score': 0.39}, {'connected_gene': 'GC08P103328', 'score': 0.26}]
chr8	GH08I102977	102977911	102981400	1.23	[{'connected_gene': 'ENSG00000254281', 'score': 550.77}, {'connected_gene': 'KLF10', 'score': 10.52}, {'connected_gene': 'AZIN1', 'score': 6.79}, {'connected_gene': 'ATP6V1C1', 'score': 4.09}, {'connected_gene': 'DCAF13', 'score': 1.93}, {'connected_gene': 'SLC25A32', 'score': 1.57}, {'connected_gene': 'GC08P103006', 'score': 0.31}]
chr8	GH08I102792	102792404	102796234	1.2	[{'connected_gene': 'GC08P102794', 'score': 550.77}, {'connected_gene': 'UBR5', 'score': 15.37}, {'connected_gene': 'SLC25A32', 'score': 12.24}, {'connected_gene': 'ENSG00000272037', 'score': 10.17}, {'connected_gene': 'AZIN1', 'score': 6.4}, {'connected_gene': 'GASAL1', 'score': 4.92}, {'connected_gene': 'ADI1P2', 'score': 0.14}]