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
ENST00000374874	[[103790990, 103791384], [103947731, 103947839], [104032161, 104032350], [104048385, 104048518], [104071492, 104071743], [104075079, 104075256], [104079646, 104079778], [104086306, 104087417]]	[[103947776, 103947839], [104032161, 104032350], [104048385, 104048518], [104071492, 104071743], [104075079, 104075256], [104079646, 104079778], [104086306, 104086339]]
ENST00000456287	[[103893803, 103893921], [103947731, 103947839], [104032161, 104032350], [104048385, 104048442]]	[[103947776, 103947839], [104032161, 104032350], [104048385, 104048442]]
ENST00000395056	[[103947316, 103947537], [103947731, 103947839], [104032161, 104032350], [104048385, 104048518], [104071492, 104071743], [104075079, 104075256], [104079646, 104079778], [104086306, 104087413]]	[[103947776, 103947839], [104032161, 104032350], [104048385, 104048518], [104071492, 104071743], [104075079, 104075256], [104079646, 104079778], [104086306, 104086339]]
ENST00000463206	[[104032083, 104032350], [104048385, 104048518], [104071492, 104071743], [104075079, 104075176]]	None
ENST00000494890	[[103947316, 103947537], [103947731, 103947839], [103949551, 103950308]]	None
NM_207299	[[103791030, 103791384], [103947731, 103947839], [104032161, 104032350], [104048385, 104048518], [104071492, 104071743], [104075079, 104075256], [104079646, 104079778], [104086306, 104087417]]	[[103947776, 103947839], [104032161, 104032350], [104048385, 104048518], [104071492, 104071743], [104075079, 104075256], [104079646, 104079778], [104086306, 104086339]]
NM_017753	[[103947316, 103947537], [103947731, 103947839], [104032161, 104032350], [104048385, 104048518], [104071492, 104071743], [104075079, 104075256], [104079646, 104079778], [104086306, 104087417]]	[[103947776, 103947839], [104032161, 104032350], [104048385, 104048518], [104071492, 104071743], [104075079, 104075256], [104079646, 104079778], [104086306, 104086339]]

Promoter

Chrom	Start	End	Description
chr9	103790970	103790984	CAGE_peak_5_at_LPPR1_5end
chr9	103790995	103791001	CAGE_peak_15_at_LPPR1_5end
chr9	103791003	103791051	CAGE_peak_1_at_LPPR1_5end
chr9	103791052	103791084	CAGE_peak_3_at_LPPR1_5end
chr9	103791098	103791109	CAGE_peak_9_at_LPPR1_5end
chr9	103791208	103791221	CAGE_peak_7_at_LPPR1_5end
chr9	103791242	103791258	CAGE_peak_6_at_LPPR1_5end
chr9	103791262	103791270	CAGE_peak_12_at_LPPR1_5end
chr9	103947311	103947326	CAGE_peak_4_at_LPPR1_5end
chr9	103947331	103947342	CAGE_peak_14_at_LPPR1_5end
chr9	104031973	104031984	CAGE_peak_16_at_LPPR1_5end
chr9	104032009	104032020	CAGE_peak_10_at_LPPR1_5end
chr9	104032030	104032094	CAGE_peak_2_at_LPPR1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I100554	100554805	100554947	0.24	[{'connected_gene': 'TMEFF1', 'score': 17.22}, {'connected_gene': 'CAVIN4', 'score': 11.3}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 11.18}, {'connected_gene': 'MSANTD3', 'score': 10.04}, {'connected_gene': 'PLPPR1', 'score': 7.4}]
chr9	GH09I100472	100472537	100475287	1.84	[{'connected_gene': 'TMEFF1', 'score': 560.41}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 11.76}, {'connected_gene': 'MSANTD3', 'score': 11.71}, {'connected_gene': 'PLPPR1', 'score': 5.01}, {'connected_gene': 'CAVIN4', 'score': 0.15}]
chr9	GH09I101323	101323502	101325693	0.91	[{'connected_gene': 'BAAT', 'score': 6.25}, {'connected_gene': 'ENSG00000253041', 'score': 0.77}, {'connected_gene': 'BAATP1', 'score': 0.39}, {'connected_gene': 'PLPPR1', 'score': 0.06}]
chr9	GH09I101311	101311759	101312515	0.64	[{'connected_gene': 'BAAT', 'score': 6.34}, {'connected_gene': 'TRMT112P4', 'score': 5.69}, {'connected_gene': 'ENSG00000253041', 'score': 0.39}, {'connected_gene': 'LOC105376182', 'score': 0.19}, {'connected_gene': 'PLPPR1', 'score': 0.06}]
chr9	GH09I101028	101028277	101029108	1.84	[{'connected_gene': 'PLPPR1', 'score': 550.77}, {'connected_gene': 'GAPDHP26', 'score': 0.23}]
chr9	GH09I101018	101018318	101019204	0.2	[{'connected_gene': 'PLPPR1', 'score': 0.44}, {'connected_gene': 'GAPDHP26', 'score': 0.26}]
chr9	GH09I100674	100674261	100675408	0.2	[{'connected_gene': 'PLPPR1', 'score': 5.28}, {'connected_gene': 'INVS', 'score': 4.65}, {'connected_gene': 'PIR40273', 'score': 0.44}, {'connected_gene': 'RN7SKP87', 'score': 0.16}, {'connected_gene': 'GC09M100582', 'score': 0.16}]
chr9	GH09I100669	100669579	100671325	0.43	[{'connected_gene': 'PLPPR1', 'score': 5.38}, {'connected_gene': 'PIR40273', 'score': 0.39}, {'connected_gene': 'RN7SKP87', 'score': 0.17}, {'connected_gene': 'GC09M100582', 'score': 0.17}]
chr9	GH09I100637	100637839	100638008	0.62	[{'connected_gene': 'PLPPR1', 'score': 4.6}, {'connected_gene': 'PIR40273', 'score': 0.26}, {'connected_gene': 'RN7SKP87', 'score': 0.22}, {'connected_gene': 'GC09M100582', 'score': 0.22}]
chr9	GH09I101184	101184986	101185045	1.09	[{'connected_gene': 'PLPPR1', 'score': 550.1}, {'connected_gene': 'PIR56717', 'score': 0.44}, {'connected_gene': 'LOC105376183', 'score': 0.28}]
chr9	GH09I101167	101167044	101167212	0.35	[{'connected_gene': 'PLPPR1', 'score': 5.18}, {'connected_gene': 'PIR56717', 'score': 0.39}, {'connected_gene': 'ENSG00000238143', 'score': 0.26}]
chr9	GH09I101164	101164930	101165265	0.48	[{'connected_gene': 'PLPPR1', 'score': 1.81}, {'connected_gene': 'PIR56717', 'score': 0.39}, {'connected_gene': 'ENSG00000238143', 'score': 0.28}]
chr9	GH09I101052	101052866	101053206	0.22	[{'connected_gene': 'PLPPR1', 'score': 16.55}, {'connected_gene': 'GC09P101040', 'score': 0.39}, {'connected_gene': 'PIR49808', 'score': 0.19}]
chr9	GH09I101097	101097983	101099055	0.31	[{'connected_gene': 'PLPPR1', 'score': 23.58}, {'connected_gene': 'PIR49808', 'score': 0.31}, {'connected_gene': 'GC09P101040', 'score': 0.22}]
chr9	GH09I101029	101029299	101029448	0.54	[{'connected_gene': 'PLPPR1', 'score': 550.77}, {'connected_gene': 'GC09P101040', 'score': 0.39}]
chr9	GH09I101033	101033558	101033837	0.22	[{'connected_gene': 'PLPPR1', 'score': 11.92}, {'connected_gene': 'GC09P101040', 'score': 0.44}]
chr9	GH09I101222	101222731	101222849	0.22	[{'connected_gene': 'LOC105376183', 'score': 550.77}, {'connected_gene': 'PPP3R2', 'score': 7.34}, {'connected_gene': 'PLPPR1', 'score': 2.17}, {'connected_gene': 'RNF20', 'score': 1.22}, {'connected_gene': 'LOC105376182', 'score': 0.37}]
chr9	GH09I101269	101269821	101270709	0.2	[{'connected_gene': 'LOC105376182', 'score': 0.29}, {'connected_gene': 'ENSG00000253041', 'score': 0.23}, {'connected_gene': 'PLPPR1', 'score': 0.07}]
chr9	GH09I101231	101231154	101231248	0.2	[{'connected_gene': 'LOC105376182', 'score': 0.44}, {'connected_gene': 'LOC105376183', 'score': 0.44}, {'connected_gene': 'PLPPR1', 'score': 0.08}]
chr9	GH09I101107	101107801	101108000	0.2	[{'connected_gene': 'PIR49808', 'score': 0.37}, {'connected_gene': 'GC09P101040', 'score': 0.2}, {'connected_gene': 'PLPPR1', 'score': 0.18}]
chr9	GH09I101119	101119339	101119448	0.66	[{'connected_gene': 'PIR49808', 'score': 0.77}, {'connected_gene': 'GC09P101040', 'score': 0.18}, {'connected_gene': 'PLPPR1', 'score': 0.16}]
chr9	GH09I101315	101315799	101315948	0.85	[{'connected_gene': 'ENSG00000253041', 'score': 0.44}, {'connected_gene': 'LOC105376182', 'score': 0.18}, {'connected_gene': 'PLPPR1', 'score': 0.06}]