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
ENST00000423292	[[46783581, 46784073], [46784402, 46784572], [46785456, 46785630], [46786132, 46786280], [46790114, 46790141], [46795977, 46796138], [46796899, 46797162], [46797531, 46798119], [46852595, 46853363], [46853711, 46854048]]	[[46784526, 46784572], [46785456, 46785630], [46786132, 46786245]]
ENST00000442359	[[46783839, 46784073], [46784402, 46784572], [46785460, 46785630], [46786132, 46786245]]	[[46783839, 46784073], [46784402, 46784572], [46785460, 46785630], [46786132, 46786245]]
NM_199183	[[46783580, 46784073], [46784402, 46784572], [46785460, 46785630], [46786132, 46786245]]	[[46783839, 46784073], [46784402, 46784572], [46785460, 46785630], [46786132, 46786245]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I046404	46404188	46409007	2.58	[{'connected_gene': 'CCRL2', 'score': 591.48}, {'connected_gene': 'LOC102724297', 'score': 555.72}, {'connected_gene': 'CCR1', 'score': 15.56}, {'connected_gene': 'CCR2', 'score': 10.43}, {'connected_gene': 'RTP3', 'score': 10.27}, {'connected_gene': 'CCR5', 'score': 8.28}, {'connected_gene': 'LIMD1', 'score': 5.5}, {'connected_gene': 'LRRC2', 'score': 5.45}, {'connected_gene': 'TDGF1', 'score': 5.36}, {'connected_gene': 'PRSS45', 'score': 1.95}, {'connected_gene': 'GC03P046375', 'score': 0.29}]
chr3	GH03I047511	47511506	47514201	2.08	[{'connected_gene': 'ELP6', 'score': 550.77}, {'connected_gene': 'SETD2', 'score': 40.79}, {'connected_gene': 'NME6', 'score': 36.21}, {'connected_gene': 'MRPS18AP1', 'score': 30.71}, {'connected_gene': 'ZNF589', 'score': 28.64}, {'connected_gene': 'PTPN23', 'score': 23.28}, {'connected_gene': 'ATRIP', 'score': 23.0}, {'connected_gene': 'CCDC12', 'score': 21.85}, {'connected_gene': 'FCF1P2', 'score': 18.76}, {'connected_gene': 'BOLA2P2', 'score': 13.34}, {'connected_gene': 'NBEAL2', 'score': 12.75}, {'connected_gene': 'SCAP', 'score': 7.1}, {'connected_gene': 'PRSS45', 'score': 5.76}, {'connected_gene': 'CSPG5', 'score': 4.13}, {'connected_gene': 'GC03M047501', 'score': 0.39}, {'connected_gene': 'GC03M047502', 'score': 0.39}]
chr3	GH03I046862	46862482	46865686	1.19	[{'connected_gene': 'MYL3', 'score': 550.37}, {'connected_gene': 'PRSS45', 'score': 13.95}, {'connected_gene': 'TDGF1', 'score': 4.85}, {'connected_gene': 'PTH1R', 'score': 0.39}, {'connected_gene': 'PRSS42', 'score': 0.31}]
chr3	GH03I046860	46860923	46862361	0.76	[{'connected_gene': 'PRSS45', 'score': 14.13}, {'connected_gene': 'PTH1R', 'score': 0.37}, {'connected_gene': 'MYL3', 'score': 0.34}, {'connected_gene': 'PRSS42', 'score': 0.31}]
chr3	GH03I046856	46856932	46857543	0.59	[{'connected_gene': 'PRSS45', 'score': 15.11}, {'connected_gene': 'XCR1', 'score': 13.82}, {'connected_gene': 'SMARCC1', 'score': 11.33}, {'connected_gene': 'CCR2', 'score': 10.33}, {'connected_gene': 'CXCR6', 'score': 10.12}, {'connected_gene': 'SETD2', 'score': 10.03}, {'connected_gene': 'PRSS42', 'score': 0.34}, {'connected_gene': 'PTH1R', 'score': 0.34}]
chr3	GH03I046844	46844579	46847183	1.28	[{'connected_gene': 'PRSS45', 'score': 27.12}, {'connected_gene': 'ALS2CL', 'score': 16.04}, {'connected_gene': 'PTH1R', 'score': 12.82}, {'connected_gene': 'MYL3', 'score': 12.8}, {'connected_gene': 'PRSS44', 'score': 11.73}, {'connected_gene': 'PRSS50', 'score': 11.5}, {'connected_gene': 'LRRC2', 'score': 4.41}, {'connected_gene': 'PRSS42', 'score': 0.39}]
chr3	GH03I046848	46848388	46850091	1.02	[{'connected_gene': 'PRSS45', 'score': 28.18}, {'connected_gene': 'ALS2CL', 'score': 17.83}, {'connected_gene': 'PTH1R', 'score': 12.83}, {'connected_gene': 'MYL3', 'score': 12.82}, {'connected_gene': 'PRSS44', 'score': 11.72}, {'connected_gene': 'PRSS46P', 'score': 9.8}, {'connected_gene': 'PRSS42', 'score': 0.37}]
chr3	GH03I046699	46699720	46700400	0.77	[{'connected_gene': 'PRSS45', 'score': 10.88}, {'connected_gene': 'ALS2CL', 'score': 4.68}, {'connected_gene': 'TMIE', 'score': 0.44}, {'connected_gene': 'PRSS50', 'score': 0.37}]
chr3	GH03I046662	46662643	46664022	0.85	[{'connected_gene': 'PRSS45', 'score': 8.58}, {'connected_gene': 'ALS2CL', 'score': 6.55}, {'connected_gene': 'ENSG00000251967', 'score': 0.39}]
chr3	GH03I046913	46913800	46914000	0.77	[{'connected_gene': 'PRSS45', 'score': 7.52}, {'connected_gene': 'NBEAL2', 'score': 6.99}, {'connected_gene': 'ENSG00000273682', 'score': 0.44}, {'connected_gene': 'MYL3', 'score': 0.29}]
chr3	GH03I046717	46717833	46717892	0.92	[{'connected_gene': 'PRSS50', 'score': 550.77}, {'connected_gene': 'PRSS45', 'score': 4.43}, {'connected_gene': 'TMIE', 'score': 0.34}]
chr3	GH03I046724	46724918	46726560	0.38	[{'connected_gene': 'SETD2', 'score': 18.14}, {'connected_gene': 'PRSS45', 'score': 11.65}, {'connected_gene': 'PRSS50', 'score': 10.1}, {'connected_gene': 'RN7SL145P', 'score': 9.98}, {'connected_gene': 'PTPN23', 'score': 9.71}, {'connected_gene': 'PRSS46P', 'score': 5.71}]
chr3	GH03I047078	47078526	47078547	0.23	[{'connected_gene': 'SETD2', 'score': 3.96}, {'connected_gene': 'KLHL18', 'score': 1.41}, {'connected_gene': 'PRSS45', 'score': 1.32}, {'connected_gene': 'CCDC12', 'score': 1.28}, {'connected_gene': 'MRPL57P3', 'score': 0.25}]
chr3	GH03I047410	47410837	47416738	0.74	[{'connected_gene': 'PTPN23', 'score': 27.17}, {'connected_gene': 'SCAP', 'score': 19.64}, {'connected_gene': 'FCF1P2', 'score': 18.01}, {'connected_gene': 'ZNF589', 'score': 13.02}, {'connected_gene': 'BOLA2P2', 'score': 12.88}, {'connected_gene': 'NBEAL2', 'score': 12.62}, {'connected_gene': 'SETD2', 'score': 12.16}, {'connected_gene': 'PRSS45', 'score': 5.78}, {'connected_gene': 'CCDC12', 'score': 5.43}, {'connected_gene': 'PIR43961', 'score': 0.44}, {'connected_gene': 'GC03M047419', 'score': 0.44}, {'connected_gene': 'ENSG00000260236', 'score': 0.29}]
chr3	GH03I046700	46700805	46701958	1.09	[{'connected_gene': 'TMIE', 'score': 550.44}, {'connected_gene': 'PRSS45', 'score': 12.56}, {'connected_gene': 'PRSS50', 'score': 7.35}, {'connected_gene': 'ALS2CL', 'score': 4.81}]
chr3	GH03I046672	46672176	46674323	0.46	[{'connected_gene': 'ALS2CL', 'score': 15.79}, {'connected_gene': 'PRSS45', 'score': 9.57}, {'connected_gene': 'ENSG00000251967', 'score': 0.34}]
chr3	GH03I046690	46690391	46697596	2.27	[{'connected_gene': 'ALS2CL', 'score': 567.82}, {'connected_gene': 'TMIE', 'score': 550.77}, {'connected_gene': 'PRSS50', 'score': 7.29}, {'connected_gene': 'LRRC2', 'score': 6.46}, {'connected_gene': 'PRSS45', 'score': 6.1}]
chr3	GH03I047016	47016125	47019975	1.13	[{'connected_gene': 'NBEAL2', 'score': 24.6}, {'connected_gene': 'PTH1R', 'score': 17.39}, {'connected_gene': 'CCDC12', 'score': 12.15}, {'connected_gene': 'MYL3', 'score': 10.83}, {'connected_gene': 'PRSS45', 'score': 5.07}, {'connected_gene': 'PRSS50', 'score': 5.05}, {'connected_gene': 'NRADDP', 'score': 0.44}, {'connected_gene': 'MRPL57P3', 'score': 0.39}, {'connected_gene': 'SETD2', 'score': 0.11}]
chr3	GH03I047291	47290893	47292778	0.63	[{'connected_gene': 'NBEAL2', 'score': 11.26}, {'connected_gene': 'PRSS45', 'score': 6.51}, {'connected_gene': 'KLHL18', 'score': 0.44}, {'connected_gene': 'KIF9', 'score': 0.44}, {'connected_gene': 'GC03P047316', 'score': 0.34}]
chr3	GH03I047135	47135314	47135604	0.22	[{'connected_gene': 'NBEAL2', 'score': 24.24}, {'connected_gene': 'KIF9-AS1', 'score': 12.5}, {'connected_gene': 'SETD2', 'score': 12.5}, {'connected_gene': 'CCDC12', 'score': 10.31}, {'connected_gene': 'PRSS45', 'score': 4.42}, {'connected_gene': 'PRSS42', 'score': 2.05}, {'connected_gene': 'MRPL57P3', 'score': 0.14}]
chr3	GH03I046941	46941558	46951399	1.74	[{'connected_gene': 'NBEAL2', 'score': 34.1}, {'connected_gene': 'CCDC12', 'score': 19.09}, {'connected_gene': 'PTH1R', 'score': 18.41}, {'connected_gene': 'MYL3', 'score': 11.23}, {'connected_gene': 'SCAP', 'score': 10.97}, {'connected_gene': 'KLHL18', 'score': 8.96}, {'connected_gene': 'CSPG5', 'score': 5.71}, {'connected_gene': 'LRRC2', 'score': 5.26}, {'connected_gene': 'PRSS45', 'score': 5.04}, {'connected_gene': 'SETD2', 'score': 4.86}, {'connected_gene': 'BOLA2P2', 'score': 4.72}, {'connected_gene': 'PTPN23', 'score': 4.58}, {'connected_gene': 'KIF9', 'score': 1.58}, {'connected_gene': 'GC03P046964', 'score': 0.37}, {'connected_gene': 'ENSG00000273682', 'score': 0.31}]
chr3	GH03I046952	46952202	46961828	1.51	[{'connected_gene': 'NBEAL2', 'score': 30.63}, {'connected_gene': 'CCDC12', 'score': 16.08}, {'connected_gene': 'PTH1R', 'score': 7.44}, {'connected_gene': 'KLHL18', 'score': 6.97}, {'connected_gene': 'PRSS45', 'score': 6.95}, {'connected_gene': 'CSPG5', 'score': 4.92}, {'connected_gene': 'BOLA2P2', 'score': 4.33}, {'connected_gene': 'SETD2', 'score': 3.73}, {'connected_gene': 'GC03P046964', 'score': 0.44}, {'connected_gene': 'ENSG00000273682', 'score': 0.28}]
chr3	GH03I046923	46923873	46924546	0.68	[{'connected_gene': 'NBEAL2', 'score': 22.47}, {'connected_gene': 'CCDC12', 'score': 12.85}, {'connected_gene': 'MYL3', 'score': 11.23}, {'connected_gene': 'PTH1R', 'score': 11.22}, {'connected_gene': 'PRSS45', 'score': 6.65}, {'connected_gene': 'ENSG00000273682', 'score': 0.44}, {'connected_gene': 'GC03P046964', 'score': 0.28}]
chr3	GH03I046628	46628239	46630680	1.35	[{'connected_gene': 'RN7SL145P', 'score': 18.76}, {'connected_gene': 'SETD2', 'score': 17.0}, {'connected_gene': 'PTPN23', 'score': 14.27}, {'connected_gene': 'LTF', 'score': 11.75}, {'connected_gene': 'ALS2CL', 'score': 11.47}, {'connected_gene': 'CCDC12', 'score': 11.47}, {'connected_gene': 'TDGF1', 'score': 11.37}, {'connected_gene': 'BOLA2P2', 'score': 11.19}, {'connected_gene': 'RTP3', 'score': 10.62}, {'connected_gene': 'PRSS45', 'score': 7.37}, {'connected_gene': 'GC03P046626', 'score': 0.77}, {'connected_gene': 'GC03P046650', 'score': 0.34}]
chr3	GH03I046736	46736419	46736478	0.5	[{'connected_gene': 'PRSS46P', 'score': 550.77}, {'connected_gene': 'PRSS45', 'score': 0.44}]
chr3	GH03I046875	46875892	46879620	0.99	[{'connected_gene': 'PIR52904', 'score': 550.77}, {'connected_gene': 'GC03P046880', 'score': 550.77}, {'connected_gene': 'PTH1R', 'score': 550.77}, {'connected_gene': 'PRSS45', 'score': 10.42}, {'connected_gene': 'NBEAL2', 'score': 5.42}, {'connected_gene': 'CCDC12', 'score': 4.83}, {'connected_gene': 'MYL3', 'score': 0.77}]
chr3	GH03I046829	46829603	46830590	0.67	[{'connected_gene': 'GC03M046829', 'score': 550.77}, {'connected_gene': 'GC03M046828', 'score': 550.77}, {'connected_gene': 'PRSS45', 'score': 6.85}, {'connected_gene': 'PRSS46P', 'score': 5.73}, {'connected_gene': 'PRSS42', 'score': 0.77}]