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
ENST00000269812	[[281039, 281537], [282133, 282310], [282751, 282809], [287473, 287751], [288019, 288171], [291284, 291386]]	[[281387, 281537], [282133, 282310], [282751, 282809], [287473, 287751], [288019, 288171], [291284, 291336]]
ENST00000434325	[[281344, 281537], [282133, 282310], [282751, 282809], [287473, 287751], [288019, 288171], [291325, 291393]]	[[281387, 281537], [282133, 282310], [282751, 282809], [287473, 287751], [288019, 288055]]
ENST00000327790	[[281387, 281537], [282133, 282310], [282751, 282809], [287473, 287751], [288019, 288171], [290951, 291170]]	[[281387, 281537], [282133, 282310], [282751, 282809], [287473, 287751], [288019, 288171], [290951, 291066]]
ENST00000586998	[[281990, 282310], [282751, 282809], [287473, 287636]]	[[282121, 282310], [282751, 282809], [287473, 287636]]
ENST00000589672	[[287160, 287751], [288019, 288530]]	None
ENST00000591572	[[287473, 287751], [288019, 288189], [291284, 291382]]	[[287473, 287751], [288019, 288189], [291284, 291336]]
NM_177543	[[281039, 281537], [282133, 282310], [282751, 282809], [287473, 287751], [288019, 288171], [290951, 291169]]	[[281387, 281537], [282133, 282310], [282751, 282809], [287473, 287751], [288019, 288171], [290951, 291066]]
NM_003712	[[281039, 281537], [282133, 282310], [282751, 282809], [287473, 287751], [288019, 288171], [291284, 291435]]	[[281387, 281537], [282133, 282310], [282751, 282809], [287473, 287751], [288019, 288171], [291284, 291336]]
NM_177526	[[281039, 281537], [282133, 282310], [282751, 282809], [287473, 287751], [288019, 288171], [291325, 291435]]	[[281387, 281537], [282133, 282310], [282751, 282809], [287473, 287751], [288019, 288055]]

Promoter

Chrom	Start	End	Description
chr19	291133	291152	CAGE_peak_4_at_PPAP2C_5end
chr19	291348	291363	CAGE_peak_2_at_PPAP2C_5end
chr19	291365	291427	CAGE_peak_1_at_PPAP2C_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I000266	266801	267799	1.18	[{'connected_gene': 'PLPP2', 'score': 21.41}, {'connected_gene': 'TMEM259', 'score': 12.72}, {'connected_gene': 'MED16', 'score': 11.32}, {'connected_gene': 'C2CD4C', 'score': 10.99}, {'connected_gene': 'GRIN3B', 'score': 9.95}, {'connected_gene': 'PIR34080', 'score': 0.77}, {'connected_gene': 'ENSG00000282393', 'score': 0.37}]
chr19	GH19I000288	288640	291565	2.34	[{'connected_gene': 'PLPP2', 'score': 581.54}, {'connected_gene': 'WASH5P', 'score': 5.36}, {'connected_gene': 'GZMM', 'score': 2.17}, {'connected_gene': 'MISP', 'score': 1.78}, {'connected_gene': 'RNF126', 'score': 1.56}, {'connected_gene': 'C2CD4C', 'score': 1.52}, {'connected_gene': 'VN2R11P', 'score': 0.39}]
chr19	GH19I000294	294280	295955	0.84	[{'connected_gene': 'PLPP2', 'score': 19.06}, {'connected_gene': 'MIER2', 'score': 8.17}, {'connected_gene': 'LOC101929060', 'score': 0.44}]
chr19	GH19I000282	282030	282499	0.46	[{'connected_gene': 'PLPP2', 'score': 15.44}, {'connected_gene': 'THEG', 'score': 11.37}, {'connected_gene': 'C2CD4C', 'score': 11.03}, {'connected_gene': 'VN2R11P', 'score': 0.77}]
chr19	GH19I000291	291761	292030	0.59	[{'connected_gene': 'PLPP2', 'score': 550.77}, {'connected_gene': 'LOC101929060', 'score': 0.39}]
chr19	GH19I000296	296104	296758	0.51	[{'connected_gene': 'PLPP2', 'score': 5.78}, {'connected_gene': 'LOC101929060', 'score': 0.44}]
chr19	GH19I000287	287384	288284	0.2	[{'connected_gene': 'PLPP2', 'score': 16.13}, {'connected_gene': 'VN2R11P', 'score': 0.44}]
chr19	GH19I000310	310099	311825	0.38	[{'connected_gene': 'MIER2', 'score': 16.26}, {'connected_gene': 'PLPP2', 'score': 7.3}, {'connected_gene': 'ENSG00000267124', 'score': 0.44}, {'connected_gene': 'GC19M000319', 'score': 0.34}]
chr19	GH19I000747	747240	756590	2.13	[{'connected_gene': 'MISP', 'score': 572.73}, {'connected_gene': 'PRTN3', 'score': 13.31}, {'connected_gene': 'ELANE', 'score': 13.29}, {'connected_gene': 'CFD', 'score': 13.28}, {'connected_gene': 'FSTL3', 'score': 5.59}, {'connected_gene': 'PLPP2', 'score': 3.12}, {'connected_gene': 'TPGS1', 'score': 1.39}, {'connected_gene': 'GC19P000749', 'score': 0.77}, {'connected_gene': 'GC19P000763', 'score': 0.39}, {'connected_gene': 'PALM', 'score': 0.26}]
chr19	GH19I000283	283461	283610	0.2	[{'connected_gene': 'VN2R11P', 'score': 0.77}, {'connected_gene': 'PLPP2', 'score': 0.44}]
chr19	GH19I000281	281077	281835	0.54	[{'connected_gene': 'VN2R11P', 'score': 550.77}, {'connected_gene': 'GC19P000280', 'score': 550.77}, {'connected_gene': 'THEG', 'score': 11.37}, {'connected_gene': 'PLPP2', 'score': 11.34}, {'connected_gene': 'C2CD4C', 'score': 11.03}]
chr19	GH19I000280	280241	281011	0.49	[{'connected_gene': 'VN2R11P', 'score': 550.77}, {'connected_gene': 'GC19P000280', 'score': 550.77}, {'connected_gene': 'THEG', 'score': 11.37}, {'connected_gene': 'C2CD4C', 'score': 11.03}, {'connected_gene': 'WASH5P', 'score': 9.74}, {'connected_gene': 'PLPP2', 'score': 8.79}]