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
ENST00000268802	[[69775769, 69776504], [69778775, 69778920], [69782134, 69782232], [69782820, 69783021], [69783115, 69783241], [69783461, 69783533], [69786143, 69786274], [69788496, 69788629], [69788750, 69788843]]	[[69776234, 69776504], [69778775, 69778920], [69782134, 69782232], [69782820, 69783021], [69783115, 69783241], [69783461, 69783533], [69786143, 69786274], [69788496, 69788629], [69788750, 69788813]]
ENST00000569871	[[69776478, 69776504], [69778775, 69778920], [69782134, 69782232], [69782853, 69783021], [69783115, 69783241], [69783461, 69783533], [69788496, 69788629], [69788750, 69788827]]	[[69783528, 69783533], [69788496, 69788629], [69788750, 69788813]]
ENST00000564620	[[69778805, 69778920], [69782134, 69782232], [69782820, 69783021], [69783115, 69783241], [69783461, 69783533], [69788496, 69788629], [69788750, 69788817]]	[[69783528, 69783533], [69788496, 69788629], [69788750, 69788813]]
ENST00000561677	[[69782650, 69783021], [69783115, 69783241], [69783461, 69783533], [69786143, 69786156]]	None
ENST00000563055	[[69782955, 69783241], [69788496, 69788695]]	None
ENST00000562416	[[69783212, 69783241], [69783461, 69783533], [69786143, 69786274], [69788496, 69788820]]	None
NM_014062	[[69775756, 69776504], [69778775, 69778920], [69782134, 69782232], [69782820, 69783021], [69783115, 69783241], [69783461, 69783533], [69786143, 69786274], [69788496, 69788629], [69788750, 69788871]]	[[69776234, 69776504], [69778775, 69778920], [69782134, 69782232], [69782820, 69783021], [69783115, 69783241], [69783461, 69783533], [69786143, 69786274], [69788496, 69788629], [69788750, 69788813]]
NR_074074	[[69775756, 69776504], [69778775, 69778920], [69782134, 69782232], [69782820, 69783021], [69783115, 69783241], [69783461, 69783533], [69788496, 69788629], [69788750, 69788871]]	None

Promoter

Chrom	Start	End	Description
chr16	69788816	69788846	CAGE_peak_1_at_NOB1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I070680	70680118	70709286	2.78	[{'connected_gene': 'MTSS1L', 'score': 558.65}, {'connected_gene': 'VAC14-AS1', 'score': 11.89}, {'connected_gene': 'CLEC18A', 'score': 5.93}, {'connected_gene': 'NPIPB14P', 'score': 5.63}, {'connected_gene': 'NOB1', 'score': 5.42}, {'connected_gene': 'VAC14', 'score': 5.17}, {'connected_gene': 'EXOSC6', 'score': 5.15}, {'connected_gene': 'NQO1', 'score': 4.44}, {'connected_gene': 'SMG1P7', 'score': 4.42}, {'connected_gene': 'MARVELD3', 'score': 4.31}, {'connected_gene': 'CMTR2', 'score': 4.28}, {'connected_gene': 'GC16M070687', 'score': 0.77}, {'connected_gene': 'ENSG00000279412', 'score': 0.37}]
chr16	GH16I069031	69031453	69032573	0.82	[{'connected_gene': 'RPS2P45', 'score': 550.77}, {'connected_gene': 'RNU6-898P', 'score': 12.22}, {'connected_gene': 'HAS3', 'score': 11.14}, {'connected_gene': 'NOB1', 'score': 4.9}, {'connected_gene': 'LOC101060098', 'score': 0.44}, {'connected_gene': 'TANGO6', 'score': 0.09}]
chr16	GH16I069402	69402423	69413932	1.74	[{'connected_gene': 'TERF2', 'score': 562.49}, {'connected_gene': 'NFAT5', 'score': 89.2}, {'connected_gene': 'PDPR', 'score': 73.75}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 61.96}, {'connected_gene': 'NONOP1', 'score': 60.65}, {'connected_gene': 'LOC400541', 'score': 59.91}, {'connected_gene': 'PDXDC2P', 'score': 57.12}, {'connected_gene': 'NPIPB14P', 'score': 55.13}, {'connected_gene': 'DDX19A', 'score': 55.06}, {'connected_gene': 'SNTB2', 'score': 37.03}, {'connected_gene': 'CHTF8', 'score': 32.24}, {'connected_gene': 'EXOSC6', 'score': 29.86}, {'connected_gene': 'AARS', 'score': 28.78}, {'connected_gene': 'ZFP90', 'score': 27.94}, {'connected_gene': 'DDX19B', 'score': 26.85}, {'connected_gene': 'LOC100506083', 'score': 26.8}, {'connected_gene': 'UTP4', 'score': 23.68}, {'connected_gene': 'TMED6', 'score': 18.96}, {'connected_gene': 'MIR1538', 'score': 11.19}, {'connected_gene': 'NIP7', 'score': 11.11}, {'connected_gene': 'NQO1', 'score': 10.19}, {'connected_gene': 'NOB1', 'score': 9.72}, {'connected_gene': 'WWP2', 'score': 9.55}, {'connected_gene': 'ENSG00000252443', 'score': 9.55}, {'connected_gene': 'CYB5B', 'score': 6.12}, {'connected_gene': 'CLEC18A', 'score': 4.86}, {'connected_gene': 'CLEC18C', 'score': 4.46}, {'connected_gene': 'SMG1P7', 'score': 4.31}, {'connected_gene': 'GC16M069470', 'score': 0.37}]
chr16	GH16I069756	69756674	69757597	0.66	[{'connected_gene': 'NONOP1', 'score': 550.77}, {'connected_gene': 'ENSG00000252443', 'score': 11.58}, {'connected_gene': 'NPIPB14P', 'score': 7.82}, {'connected_gene': 'LOC100506083', 'score': 5.14}, {'connected_gene': 'NOB1', 'score': 2.22}, {'connected_gene': 'PDF', 'score': 1.98}, {'connected_gene': 'NIP7', 'score': 1.56}]
chr16	GH16I069130	69130077	69133947	2.07	[{'connected_gene': 'CHTF8', 'score': 574.6}, {'connected_gene': 'UTP4', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 42.48}, {'connected_gene': 'PDPR', 'score': 39.43}, {'connected_gene': 'NFAT5', 'score': 39.4}, {'connected_gene': 'NONOP1', 'score': 34.19}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 23.21}, {'connected_gene': 'NPIPB14P', 'score': 22.79}, {'connected_gene': 'PDXDC2P', 'score': 20.99}, {'connected_gene': 'RNU6-22P', 'score': 12.03}, {'connected_gene': 'ENSG00000263276', 'score': 11.83}, {'connected_gene': 'NIP7', 'score': 11.04}, {'connected_gene': 'ENSG00000200164', 'score': 10.83}, {'connected_gene': 'PRMT7', 'score': 10.59}, {'connected_gene': 'ENSG00000260891', 'score': 10.19}, {'connected_gene': 'NOB1', 'score': 9.7}, {'connected_gene': 'TMED6', 'score': 7.85}]
chr16	GH16I069105	69105038	69108965	2.1	[{'connected_gene': 'HAS3', 'score': 550.77}, {'connected_gene': 'GC16M069105', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 28.59}, {'connected_gene': 'NFAT5', 'score': 21.2}, {'connected_gene': 'NONOP1', 'score': 15.23}, {'connected_gene': 'NOB1', 'score': 9.7}]
chr16	GH16I069039	69039264	69041327	1.09	[{'connected_gene': 'HAS3', 'score': 11.18}, {'connected_gene': 'NOB1', 'score': 4.97}, {'connected_gene': 'SNTB2', 'score': 4.06}, {'connected_gene': 'RPS2P45', 'score': 0.44}, {'connected_gene': 'TANGO6', 'score': 0.08}]
chr16	GH16I069753	69753325	69755567	2.05	[{'connected_gene': 'NOB1', 'score': 550.77}, {'connected_gene': 'NPIPB14P', 'score': 16.07}, {'connected_gene': 'NQO1', 'score': 11.96}, {'connected_gene': 'ENSG00000252443', 'score': 10.92}, {'connected_gene': 'WWP2', 'score': 6.56}, {'connected_gene': 'NONOP1', 'score': 0.77}, {'connected_gene': 'ENSG00000262136', 'score': 0.31}]
chr16	GH16I070064	70064300	70066803	1.66	[{'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 581.49}, {'connected_gene': 'PDXDC2P', 'score': 561.96}, {'connected_gene': 'CLEC18A', 'score': 54.09}, {'connected_gene': 'NONOP1', 'score': 43.07}, {'connected_gene': 'NPIPB14P', 'score': 36.0}, {'connected_gene': 'NFAT5', 'score': 20.69}, {'connected_gene': 'SF3B3', 'score': 17.18}, {'connected_gene': 'NOB1', 'score': 13.59}, {'connected_gene': 'PDPR', 'score': 13.09}, {'connected_gene': 'DDX19B', 'score': 12.69}, {'connected_gene': 'SNTB2', 'score': 12.49}, {'connected_gene': 'CHTF8', 'score': 11.19}, {'connected_gene': 'EXOSC6', 'score': 10.9}, {'connected_gene': 'GC16P070050', 'score': 0.39}]
chr16	GH16I069741	69741218	69742811	0.66	[{'connected_gene': 'WWP2', 'score': 17.58}, {'connected_gene': 'NPIPB14P', 'score': 12.54}, {'connected_gene': 'ENSG00000252443', 'score': 10.73}, {'connected_gene': 'NOB1', 'score': 0.39}, {'connected_gene': 'ENSG00000262136', 'score': 0.37}]
chr16	GH16I068822	68822416	68824778	0.66	[{'connected_gene': 'FTLP14', 'score': 566.59}, {'connected_gene': 'ENSG00000260798', 'score': 550.77}, {'connected_gene': 'RNU4-36P', 'score': 10.65}, {'connected_gene': 'TANGO6', 'score': 5.12}, {'connected_gene': 'NOB1', 'score': 4.42}, {'connected_gene': 'GC16P068834', 'score': 0.39}, {'connected_gene': 'CDH1', 'score': 0.17}]