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
ENST00000570947	[[80901666, 80901925], [80904754, 80904835], [81006608, 81006658]]	None
ENST00000576599	[[80901666, 80901925], [80904754, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80963450, 80963547], [80972329, 80972395], [80992910, 80992975], [81006346, 81006446], [81006544, 81007042]]	[[80904778, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80963450, 80963525]]
ENST00000320865	[[80901666, 80901925], [80904754, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80972329, 80972395], [80992910, 80992975], [81006346, 81006446], [81006544, 81006661], [81009612, 81009686]]	[[80904778, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80972329, 80972395], [80992910, 80992975], [81006346, 81006446], [81006544, 81006661], [81009612, 81009672]]
ENST00000571954	[[80918251, 80918362], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80972329, 80972395], [80992910, 80992975], [81006346, 81006446], [81006544, 81006661], [81006911, 81007016]]	None
ENST00000573629	[[80969303, 80969379], [80972329, 80972395], [80992910, 80992975], [81006346, 81006446], [81006544, 81006660]]	None
ENST00000571218	[[80988636, 80988778], [80992910, 80992975], [81006346, 81006446], [81006582, 81006661], [81009612, 81009685]]	[[81006423, 81006446], [81006582, 81006661], [81009612, 81009672]]
ENST00000572977	[[80900030, 80900538], [80901697, 80901925], [80904754, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80963856, 80964864]]	[[80904778, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923592]]
ENST00000572267	[[80900340, 80900558], [80901697, 80901925]]	None
ENST00000573363	[[80901666, 80901925], [80904754, 80904859], [80914570, 80914677]]	None
ENST00000571301	[[80901671, 80901925], [80904754, 80907824]]	None
ENST00000571394	[[80904769, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918234, 80918362], [80918932, 80919208]]	None
NM_001320742	[[80900024, 80901925], [80904754, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80972329, 80972395], [80992910, 80992975], [81006346, 81006446], [81006544, 81006661], [81008100, 81008218], [81009612, 81009686]]	[[80904778, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80972329, 80972395], [80992910, 80992975], [81006346, 81006446], [81006544, 81006661], [81008100, 81008118]]
NR_135465	[[80900024, 80901925], [80904754, 80904998], [80914061, 80914277], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80972329, 80972395], [80992910, 80992975], [81006346, 81006446], [81006544, 81006661], [81009612, 81009686]]	None
NM_001009905	[[80900024, 80901925], [80904754, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80972329, 80972395], [80992910, 80992975], [81006346, 81006446], [81006544, 81006661], [81009612, 81009686]]	[[80904778, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80972329, 80972395], [80992910, 80992975], [81006346, 81006446], [81006544, 81006661], [81009612, 81009672]]
NR_135466	[[80900024, 80900538], [80901697, 80901925], [80904754, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80963856, 80964864]]	None
NM_001320743	[[80900024, 80901925], [80904754, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923622], [80962990, 80963086], [80963856, 80964873]]	[[80904778, 80904859], [80914570, 80914645], [80915056, 80915125], [80915234, 80915370], [80918932, 80919057], [80923526, 80923592]]

Promoter

Chrom	Start	End	Description
chr17	81006424	81006436	CAGE_peak_4_at_B3GNTL1_5end
chr17	81006437	81006497	CAGE_peak_2_at_B3GNTL1_5end
chr17	81006502	81006517	CAGE_peak_3_at_B3GNTL1_5end
chr17	81009636	81009699	CAGE_peak_1_at_B3GNTL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I082961	82961944	82963934	0.94	[{'connected_gene': 'FN3KRP', 'score': 11.87}, {'connected_gene': 'TBCD', 'score': 9.9}, {'connected_gene': 'LOC101929552', 'score': 6.74}, {'connected_gene': 'RAB40B', 'score': 6.57}, {'connected_gene': 'ENSG00000264548', 'score': 6.25}, {'connected_gene': 'PIR37267', 'score': 0.39}, {'connected_gene': 'ENSG00000262339', 'score': 0.37}, {'connected_gene': 'B3GNTL1', 'score': 0.17}]
chr17	GH17I082781	82781580	82782534	1.21	[{'connected_gene': 'FN3KRP', 'score': 15.14}, {'connected_gene': 'B3GNTL1', 'score': 5.08}, {'connected_gene': 'LOC101929552', 'score': 4.69}, {'connected_gene': 'ENSG00000263098', 'score': 0.39}, {'connected_gene': 'TBCD', 'score': 0.31}]
chr17	GH17I083073	83073165	83074293	1.58	[{'connected_gene': 'NARF', 'score': 4.97}, {'connected_gene': 'B3GNTL1', 'score': 4.74}, {'connected_gene': 'METRNL', 'score': 2.36}]
chr17	GH17I083074	83074759	83076322	0.46	[{'connected_gene': 'NARF', 'score': 4.58}, {'connected_gene': 'B3GNTL1', 'score': 4.39}, {'connected_gene': 'METRNL', 'score': 0.77}]
chr17	GH17I082969	82969873	82970461	0.31	[{'connected_gene': 'METRNL', 'score': 12.4}, {'connected_gene': 'FN3KRP', 'score': 10.42}, {'connected_gene': 'TBCD', 'score': 8.39}, {'connected_gene': 'B3GNTL1', 'score': 4.36}, {'connected_gene': 'ENSG00000262339', 'score': 0.44}, {'connected_gene': 'PIR37267', 'score': 0.37}]
chr17	GH17I083078	83078965	83090181	2.49	[{'connected_gene': 'METRNL', 'score': 559.91}, {'connected_gene': 'ENSG00000265678', 'score': 20.57}, {'connected_gene': 'TBCD', 'score': 19.34}, {'connected_gene': 'ENSG00000260563', 'score': 15.29}, {'connected_gene': 'OGFOD3', 'score': 14.0}, {'connected_gene': 'CCDC57', 'score': 13.92}, {'connected_gene': 'HEXDC', 'score': 12.82}, {'connected_gene': 'NARF-IT1', 'score': 12.75}, {'connected_gene': 'ENSG00000262652', 'score': 11.21}, {'connected_gene': 'CSNK1D', 'score': 10.87}, {'connected_gene': 'ARL2BPP9', 'score': 10.86}, {'connected_gene': 'B3GNTL1', 'score': 8.74}, {'connected_gene': 'NARF', 'score': 5.08}, {'connected_gene': 'ENSG00000261888', 'score': 4.79}, {'connected_gene': 'LOC101929552', 'score': 4.71}, {'connected_gene': 'FOXK2', 'score': 4.62}, {'connected_gene': 'PIR48502', 'score': 0.39}]
chr17	GH17I083154	83154270	83156772	1.4	[{'connected_gene': 'METRNL', 'score': 8.8}, {'connected_gene': 'B3GNTL1', 'score': 5.43}, {'connected_gene': 'LOC101929650', 'score': 0.39}, {'connected_gene': 'LOC105371948', 'score': 0.28}]
chr17	GH17I083072	83072065	83072214	0.64	[{'connected_gene': 'METRNL', 'score': 0.44}, {'connected_gene': 'B3GNTL1', 'score': 0.34}]
chr17	GH17I083050	83050610	83054999	2.26	[{'connected_gene': 'B3GNTL1', 'score': 574.85}, {'connected_gene': 'ENSG00000260563', 'score': 15.29}, {'connected_gene': 'OGFOD3', 'score': 14.0}, {'connected_gene': 'METRNL', 'score': 12.89}, {'connected_gene': 'HEXDC', 'score': 12.82}, {'connected_gene': 'NARF-IT1', 'score': 12.76}, {'connected_gene': 'ENSG00000262652', 'score': 11.22}, {'connected_gene': 'ENSG00000265678', 'score': 10.98}, {'connected_gene': 'ARL2BPP9', 'score': 10.88}, {'connected_gene': 'CSNK1D', 'score': 10.87}, {'connected_gene': 'ENSG00000261888', 'score': 4.67}, {'connected_gene': 'FN3KRP', 'score': 4.56}]
chr17	GH17I083067	83067574	83070793	0.8	[{'connected_gene': 'B3GNTL1', 'score': 14.04}, {'connected_gene': 'NARF', 'score': 5.61}, {'connected_gene': 'ENSG00000261888', 'score': 4.62}, {'connected_gene': 'FN3K', 'score': 4.41}, {'connected_gene': 'METRNL', 'score': 0.39}]
chr17	GH17I083037	83037237	83037975	0.2	[{'connected_gene': 'B3GNTL1', 'score': 15.85}, {'connected_gene': 'METRNL', 'score': 12.3}, {'connected_gene': 'PIR44293', 'score': 0.31}]
chr17	GH17I083046	83046801	83050399	1.17	[{'connected_gene': 'B3GNTL1', 'score': 19.07}, {'connected_gene': 'METRNL', 'score': 12.87}, {'connected_gene': 'PIR44293', 'score': 0.28}]
chr17	GH17I083055	83055853	83056930	0.98	[{'connected_gene': 'B3GNTL1', 'score': 19.07}, {'connected_gene': 'METRNL', 'score': 0.34}]
chr17	GH17I083064	83064124	83065490	0.75	[{'connected_gene': 'B3GNTL1', 'score': 15.68}, {'connected_gene': 'METRNL', 'score': 0.39}]
chr17	GH17I083012	83012401	83013835	0.58	[{'connected_gene': 'B3GNTL1', 'score': 6.63}, {'connected_gene': 'CCDC57', 'score': 4.42}, {'connected_gene': 'PIR44293', 'score': 0.77}]
chr17	GH17I083109	83109164	83112050	1.6	[{'connected_gene': 'LOC101930496', 'score': 550.77}, {'connected_gene': 'METRNL', 'score': 13.17}, {'connected_gene': 'ENSG00000262663', 'score': 11.87}, {'connected_gene': 'ENSG00000262652', 'score': 11.68}, {'connected_gene': 'NARF-IT1', 'score': 11.24}, {'connected_gene': 'ARL2BPP9', 'score': 11.15}, {'connected_gene': 'OGFOD3', 'score': 10.87}, {'connected_gene': 'ENSG00000260563', 'score': 10.79}, {'connected_gene': 'TBCD', 'score': 10.24}, {'connected_gene': 'ENSG00000261888', 'score': 9.15}, {'connected_gene': 'B3GNTL1', 'score': 6.08}, {'connected_gene': 'ENSG00000279143', 'score': 0.31}]
chr17	GH17I083143	83143912	83145613	0.66	[{'connected_gene': 'LOC101929650', 'score': 550.77}, {'connected_gene': 'METRNL', 'score': 12.31}, {'connected_gene': 'B3GNTL1', 'score': 4.94}, {'connected_gene': 'LOC105371948', 'score': 0.25}]
chr17	GH17I082880	82880915	82894808	1.8	[{'connected_gene': 'GC17M082887', 'score': 550.77}, {'connected_gene': 'FN3KRP', 'score': 28.72}, {'connected_gene': 'FN3K', 'score': 16.09}, {'connected_gene': 'RAB40B', 'score': 13.15}, {'connected_gene': 'ZNF750', 'score': 12.73}, {'connected_gene': 'WDR45B', 'score': 11.84}, {'connected_gene': 'LOC101929552', 'score': 10.39}, {'connected_gene': 'TBCD', 'score': 9.58}, {'connected_gene': 'B3GNTL1', 'score': 6.75}, {'connected_gene': 'NARF', 'score': 3.75}, {'connected_gene': 'C17orf62', 'score': 2.67}, {'connected_gene': 'METRNL', 'score': 2.05}, {'connected_gene': 'HEXDC', 'score': 1.36}, {'connected_gene': 'GC17P082883', 'score': 0.77}]
chr17	GH17I082985	82985789	82986627	0.58	[{'connected_gene': 'GC17M082980', 'score': 550.77}, {'connected_gene': 'METRNL', 'score': 12.28}, {'connected_gene': 'B3GNTL1', 'score': 5.45}, {'connected_gene': 'TBCD', 'score': 5.28}, {'connected_gene': 'FN3KRP', 'score': 5.27}, {'connected_gene': 'ENSG00000262339', 'score': 0.44}]
chr17	GH17I083102	83102996	83105431	1.14	[{'connected_gene': 'ENSG00000261888', 'score': 562.48}, {'connected_gene': 'METRNL', 'score': 4.89}, {'connected_gene': 'B3GNTL1', 'score': 4.64}, {'connected_gene': 'LOC105371942', 'score': 4.26}, {'connected_gene': 'LOC101929552', 'score': 4.05}, {'connected_gene': 'ENSG00000274370', 'score': 0.44}]
chr17	GH17I082978	82978259	82979799	0.82	[{'connected_gene': 'ENSG00000262339', 'score': 550.77}, {'connected_gene': 'B3GNTL1', 'score': 5.18}, {'connected_gene': 'TBCD', 'score': 4.98}, {'connected_gene': 'RAB40B', 'score': 4.78}, {'connected_gene': 'GC17M082980', 'score': 0.44}]
chr17	GH17I083097	83097805	83102518	1.42	[{'connected_gene': 'ENSG00000274370', 'score': 550.77}, {'connected_gene': 'ENSG00000261888', 'score': 15.29}, {'connected_gene': 'B3GNTL1', 'score': 5.88}, {'connected_gene': 'METRNL', 'score': 2.63}, {'connected_gene': 'PIR48502', 'score': 0.77}]