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
ENST00000447944	[[55861399, 55863527], [55864686, 55864734], [55867761, 55867840], [55870292, 55870348], [55870453, 55870560], [55871771, 55871855], [55872483, 55872567], [55873393, 55873457], [55873549, 55873621], [55874481, 55874588], [55882034, 55882088], [55883265, 55883355], [55883439, 55883506], [55887291, 55887328], [55889090, 55889161], [55894125, 55894228], [55894996, 55895093], [55898453, 55898511], [55899129, 55899181], [55900027, 55900214], [55906816, 55906930], [55907846, 55907894], [55907989, 55908053], [55910919, 55910969], [55912077, 55912183], [55913504, 55913579], [55914779, 55914840], [55920797, 55921045]]	[[55863371, 55863527], [55864686, 55864734], [55867761, 55867840], [55870292, 55870348], [55870453, 55870560], [55871771, 55871855], [55872483, 55872567], [55873393, 55873457], [55873549, 55873621], [55874481, 55874588], [55882034, 55882088], [55883265, 55883355], [55883439, 55883506], [55887291, 55887328], [55889090, 55889161], [55894125, 55894228], [55894996, 55895093], [55898453, 55898511], [55899129, 55899181], [55900027, 55900214], [55906816, 55906930], [55907846, 55907894], [55907989, 55908053], [55910919, 55910969], [55912077, 55912183], [55913504, 55913579], [55914779, 55914840], [55920797, 55920958]]
ENST00000415374	[[55861703, 55861984], [55862696, 55863527], [55864686, 55864734], [55867761, 55867840], [55870292, 55870348], [55870453, 55870560], [55871771, 55871855], [55872483, 55872567], [55873393, 55873457], [55873549, 55873621], [55874481, 55874588], [55882034, 55882088], [55883265, 55883355], [55883439, 55883506], [55887291, 55887328], [55889090, 55889161], [55894125, 55894228], [55894996, 55895093], [55898453, 55898511], [55899129, 55899181], [55900027, 55900214], [55906816, 55906930], [55907846, 55907894], [55907989, 55908053], [55910919, 55910969], [55912077, 55912183], [55913504, 55913579], [55914779, 55914840], [55920797, 55920958]]	[[55863371, 55863527], [55864686, 55864734], [55867761, 55867840], [55870292, 55870348], [55870453, 55870560], [55871771, 55871855], [55872483, 55872567], [55873393, 55873457], [55873549, 55873621], [55874481, 55874588], [55882034, 55882088], [55883265, 55883355], [55883439, 55883506], [55887291, 55887328], [55889090, 55889161], [55894125, 55894228], [55894996, 55895093], [55898453, 55898511], [55899129, 55899181], [55900027, 55900214], [55906816, 55906930], [55907846, 55907894], [55907989, 55908053], [55910919, 55910969], [55912077, 55912183], [55913504, 55913579], [55914779, 55914840], [55920797, 55920958]]
ENST00000260604	[[55862228, 55863527], [55864686, 55864734], [55867761, 55867840], [55870292, 55870348], [55870453, 55870547], [55871771, 55871855], [55872483, 55872567], [55873393, 55873457], [55873549, 55873621], [55874481, 55874588], [55882034, 55882088], [55883265, 55883355], [55883439, 55883506], [55887291, 55887328], [55889090, 55889161], [55894125, 55894228], [55894996, 55895093], [55898453, 55898511], [55899129, 55899181], [55900027, 55900214], [55906816, 55906930], [55907846, 55908053], [55910919, 55910969], [55912077, 55912183], [55913504, 55913579], [55914779, 55914840], [55920797, 55920977]]	[[55907966, 55908053], [55910919, 55910969], [55912077, 55912183], [55913504, 55913579], [55914779, 55914840], [55920797, 55920958]]
ENST00000481066	[[55863504, 55863527], [55864686, 55864734], [55867761, 55867840], [55870292, 55870348], [55870453, 55870560], [55871771, 55872567], [55873393, 55873457], [55873549, 55873621], [55874481, 55874517]]	None
ENST00000415489	[[55874535, 55874588], [55882034, 55882088], [55883265, 55883355], [55887291, 55887328], [55889090, 55889161], [55894125, 55894228], [55894996, 55895093], [55898453, 55898503]]	[[55883295, 55883355], [55887291, 55887328], [55889090, 55889161], [55894125, 55894228], [55894996, 55895093], [55898453, 55898503]]
ENST00000429805	[[55906816, 55906930], [55907846, 55907894], [55907989, 55908053], [55910919, 55910969], [55912077, 55912183], [55920797, 55920998]]	[[55912128, 55912183], [55920797, 55920958]]
NM_033109	[[55861197, 55863527], [55864686, 55864734], [55867761, 55867840], [55870292, 55870348], [55870453, 55870560], [55871771, 55871855], [55872483, 55872567], [55873393, 55873457], [55873549, 55873621], [55874481, 55874588], [55882034, 55882088], [55883265, 55883355], [55883439, 55883506], [55887291, 55887328], [55889090, 55889161], [55894125, 55894228], [55894996, 55895093], [55898453, 55898511], [55899129, 55899181], [55900027, 55900214], [55906816, 55906930], [55907846, 55907894], [55907989, 55908053], [55910919, 55910969], [55912077, 55912183], [55913504, 55913579], [55914779, 55914840], [55920797, 55921045]]	[[55863371, 55863527], [55864686, 55864734], [55867761, 55867840], [55870292, 55870348], [55870453, 55870560], [55871771, 55871855], [55872483, 55872567], [55873393, 55873457], [55873549, 55873621], [55874481, 55874588], [55882034, 55882088], [55883265, 55883355], [55883439, 55883506], [55887291, 55887328], [55889090, 55889161], [55894125, 55894228], [55894996, 55895093], [55898453, 55898511], [55899129, 55899181], [55900027, 55900214], [55906816, 55906930], [55907846, 55907894], [55907989, 55908053], [55910919, 55910969], [55912077, 55912183], [55913504, 55913579], [55914779, 55914840], [55920797, 55920958]]

Promoter

Chrom	Start	End	Description
chr2	55920952	55920993	CAGE_peak_1_at_PNPT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I055692	55692646	55694555	2.06	[{'connected_gene': 'PNPT1', 'score': 560.68}, {'connected_gene': 'RPS27A', 'score': 11.69}, {'connected_gene': 'GC02M055689', 'score': 0.77}]
chr2	GH02I055712	55712165	55716271	0.43	[{'connected_gene': 'PNPT1', 'score': 11.82}, {'connected_gene': 'MIR217', 'score': 10.42}, {'connected_gene': 'PPP4R3B', 'score': 7.64}, {'connected_gene': 'CLHC1', 'score': 6.5}, {'connected_gene': 'EFEMP1', 'score': 5.15}, {'connected_gene': 'ENSG00000272606', 'score': 4.42}, {'connected_gene': 'GC02P055700', 'score': 0.39}, {'connected_gene': 'GC02P055762', 'score': 0.25}]
chr2	GH02I055841	55841011	55844391	1.68	[{'connected_gene': 'PNPT1', 'score': 17.52}, {'connected_gene': 'ENSG00000203327', 'score': 11.35}, {'connected_gene': 'EFEMP1', 'score': 8.6}, {'connected_gene': 'ENSG00000240401', 'score': 7.83}, {'connected_gene': 'GC02P055762', 'score': 0.18}]
chr2	GH02I055625	55625824	55626885	0.38	[{'connected_gene': 'PNPT1', 'score': 9.88}, {'connected_gene': 'ENSG00000272606', 'score': 9.71}, {'connected_gene': 'CLHC1', 'score': 5.8}, {'connected_gene': 'GC02P055630', 'score': 0.77}, {'connected_gene': 'PPP4R3B', 'score': 0.44}]
chr2	GH02I055482	55482201	55482601	0.77	[{'connected_gene': 'RPS27A', 'score': 17.06}, {'connected_gene': 'PNPT1', 'score': 7.59}, {'connected_gene': 'GC02P055475', 'score': 0.44}, {'connected_gene': 'RNU6-634P', 'score': 0.37}]
chr2	GH02I055771	55771801	55772000	0.56	[{'connected_gene': 'EFEMP1', 'score': 10.28}, {'connected_gene': 'PNPT1', 'score': 4.93}, {'connected_gene': 'GC02P055762', 'score': 0.44}]
chr2	GH02I055518	55518601	55521067	2.06	[{'connected_gene': 'CFAP36', 'score': 550.77}, {'connected_gene': 'CLHC1', 'score': 17.55}, {'connected_gene': 'LOC100128027', 'score': 11.08}, {'connected_gene': 'PNPT1', 'score': 5.62}, {'connected_gene': 'ENSG00000212175', 'score': 0.25}]
chr2	GH02I055608	55608644	55611493	0.79	[{'connected_gene': 'ENSG00000212175', 'score': 10.96}, {'connected_gene': 'PNPT1', 'score': 9.86}, {'connected_gene': 'PPP4R3B', 'score': 0.44}, {'connected_gene': 'GC02P055601', 'score': 0.44}, {'connected_gene': 'ENSG00000272606', 'score': 0.44}]
chr2	GH02I055590	55590388	55591574	0.96	[{'connected_gene': 'ENSG00000212175', 'score': 11.77}, {'connected_gene': 'ENSG00000272606', 'score': 6.52}, {'connected_gene': 'PNPT1', 'score': 6.34}, {'connected_gene': 'GC02P055601', 'score': 0.39}, {'connected_gene': 'PPP4R3B', 'score': 0.31}]
chr2	GH02I055614	55614826	55619848	2.31	[{'connected_gene': 'ENSG00000272606', 'score': 560.13}, {'connected_gene': 'PPP4R3B', 'score': 557.93}, {'connected_gene': 'GC02P055618', 'score': 550.77}, {'connected_gene': 'RPS27A', 'score': 11.7}, {'connected_gene': 'PNPT1', 'score': 9.89}, {'connected_gene': 'PRORSD1P', 'score': 9.23}, {'connected_gene': 'CLHC1', 'score': 5.85}, {'connected_gene': 'GC02P055601', 'score': 0.37}]
chr2	GH02I055106	55106189	55114258	1.76	[{'connected_gene': 'GC02M055111', 'score': 550.77}, {'connected_gene': 'RTN4', 'score': 16.84}, {'connected_gene': 'CLHC1', 'score': 15.11}, {'connected_gene': 'PNPT1', 'score': 4.82}, {'connected_gene': 'CCDC88A', 'score': 1.22}, {'connected_gene': 'GC02P055105', 'score': 0.44}]
chr2	GH02I055599	55599475	55600320	0.2	[{'connected_gene': 'GC02P055601', 'score': 550.77}, {'connected_gene': 'CCDC88A', 'score': 11.06}, {'connected_gene': 'ENSG00000212175', 'score': 10.76}, {'connected_gene': 'ENSG00000272606', 'score': 9.72}, {'connected_gene': 'PNPT1', 'score': 6.24}, {'connected_gene': 'CLHC1', 'score': 5.92}, {'connected_gene': 'PPP4R3B', 'score': 0.37}]
chr2	GH02I055601	55601682	55602952	0.49	[{'connected_gene': 'GC02P055601', 'score': 550.77}, {'connected_gene': 'ENSG00000212175', 'score': 10.84}, {'connected_gene': 'PRORSD1P', 'score': 9.24}, {'connected_gene': 'PNPT1', 'score': 6.55}, {'connected_gene': 'PPP4R3B', 'score': 0.37}, {'connected_gene': 'ENSG00000272606', 'score': 0.37}]
chr2	GH02I055761	55761147	55762454	0.64	[{'connected_gene': 'GC02P055762', 'score': 550.77}, {'connected_gene': 'EFEMP1', 'score': 15.4}, {'connected_gene': 'MIR217', 'score': 10.39}, {'connected_gene': 'PNPT1', 'score': 4.85}, {'connected_gene': 'GC02P055700', 'score': 0.21}]
chr2	GH02I055530	55530274	55531374	0.2	[{'connected_gene': 'ENSG00000212175', 'score': 11.45}, {'connected_gene': 'RNU6-634P', 'score': 10.88}, {'connected_gene': 'RNU6-221P', 'score': 10.07}, {'connected_gene': 'PRORSD1P', 'score': 9.37}, {'connected_gene': 'PNPT1', 'score': 9.32}, {'connected_gene': 'CFAP36', 'score': 0.39}]