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
ENST00000496484	[[15083966, 15084529], [15091214, 15091474]]	None
ENST00000474866	[[15086605, 15086750], [15091214, 15091609]]	None
ENST00000253686	[[15090024, 15094140], [15094886, 15094974], [15100875, 15100982], [15106567, 15106842]]	[[15093947, 15094140], [15094886, 15094974], [15100875, 15100982], [15106567, 15106701]]
ENST00000449354	[[15090718, 15091442], [15094886, 15094974], [15100875, 15100982], [15106567, 15106767]]	[[15091333, 15091442], [15094886, 15094974], [15100875, 15100982], [15106567, 15106701]]
ENST00000420267	[[15091387, 15091442], [15094797, 15094974], [15100875, 15100982], [15106567, 15106818]]	[[15094882, 15094974], [15100875, 15100982], [15106567, 15106701]]
ENST00000444840	[[15093223, 15094140], [15100875, 15100982], [15106567, 15106824]]	[[15093991, 15094140], [15100875, 15100982], [15106567, 15106701]]
ENST00000447299	[[15093941, 15094140], [15094797, 15094974], [15100875, 15100982], [15106567, 15106807]]	[[15094882, 15094974], [15100875, 15100982], [15106567, 15106701]]
NR_135246	[[15083757, 15084529], [15091214, 15094140], [15094797, 15094974], [15100875, 15100982], [15106567, 15106844]]	None
NR_135247	[[15083757, 15084529], [15091214, 15094140], [15094886, 15094974], [15100875, 15100982], [15106567, 15106844]]	None
NM_022497	[[15090018, 15094140], [15094886, 15094974], [15100875, 15100982], [15106567, 15106844]]	[[15093947, 15094140], [15094886, 15094974], [15100875, 15100982], [15106567, 15106701]]

Promoter

Chrom	Start	End	Description
chr3	15106725	15106730	CAGE_peak_4_at_MRPS25_5end
chr3	15106747	15106830	CAGE_peak_1_at_MRPS25_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I014177	14177306	14180101	2.1	[{'connected_gene': 'XPC', 'score': 582.37}, {'connected_gene': 'LSM3', 'score': 572.82}, {'connected_gene': 'CCDC174', 'score': 32.55}, {'connected_gene': 'CHCHD4', 'score': 21.44}, {'connected_gene': 'ENSG00000228242', 'score': 19.06}, {'connected_gene': 'TMEM43', 'score': 16.95}, {'connected_gene': 'NR2C2', 'score': 14.06}, {'connected_gene': 'MRPS25', 'score': 9.72}]
chr3	GH03I014946	14946230	14950923	2.28	[{'connected_gene': 'NR2C2', 'score': 592.53}, {'connected_gene': 'FGD5-AS1', 'score': 561.35}, {'connected_gene': 'CCDC174', 'score': 39.72}, {'connected_gene': 'SH3BP5-AS1', 'score': 25.75}, {'connected_gene': 'ENSG00000228242', 'score': 18.79}, {'connected_gene': 'CAPN7', 'score': 16.5}, {'connected_gene': 'EAF1-AS1', 'score': 12.53}, {'connected_gene': 'HACL1', 'score': 12.41}, {'connected_gene': 'XPC', 'score': 11.97}, {'connected_gene': 'METTL6', 'score': 10.51}, {'connected_gene': 'MRPS25', 'score': 6.18}, {'connected_gene': 'RBSN', 'score': 5.19}, {'connected_gene': 'RPS3AP53', 'score': 4.72}, {'connected_gene': 'PIR42856', 'score': 0.39}]
chr3	GH03I014401	14401623	14406868	2.62	[{'connected_gene': 'SLC6A6', 'score': 581.22}, {'connected_gene': 'CCDC174', 'score': 21.76}, {'connected_gene': 'NR2C2', 'score': 14.74}, {'connected_gene': 'MRPS25', 'score': 12.09}, {'connected_gene': 'XPC', 'score': 11.87}, {'connected_gene': 'SH3BP5-AS1', 'score': 11.68}, {'connected_gene': 'ENSG00000228242', 'score': 11.51}, {'connected_gene': 'CAPN7', 'score': 9.86}, {'connected_gene': 'GC03P014418', 'score': 0.39}]
chr3	GH03I015063	15063061	15066005	2.04	[{'connected_gene': 'MRPS25', 'score': 556.23}, {'connected_gene': 'PIRC12', 'score': 550.77}, {'connected_gene': 'SH3BP5-AS1', 'score': 30.47}, {'connected_gene': 'CCDC174', 'score': 28.69}, {'connected_gene': 'ENSG00000228242', 'score': 26.61}, {'connected_gene': 'NR2C2', 'score': 14.16}, {'connected_gene': 'XPC', 'score': 11.97}, {'connected_gene': 'FGD5-AS1', 'score': 9.55}, {'connected_gene': 'GC03M015052', 'score': 0.39}, {'connected_gene': 'PIR50374', 'score': 0.39}]
chr3	GH03I015097	15097647	15100022	2.14	[{'connected_gene': 'RBSN', 'score': 550.77}, {'connected_gene': 'GC03M015143', 'score': 550.77}, {'connected_gene': 'NR2C2', 'score': 66.49}, {'connected_gene': 'CCDC174', 'score': 58.67}, {'connected_gene': 'SH3BP5-AS1', 'score': 50.03}, {'connected_gene': 'CAPN7', 'score': 48.58}, {'connected_gene': 'ENSG00000228242', 'score': 38.11}, {'connected_gene': 'XPC', 'score': 32.56}, {'connected_gene': 'MRPS25', 'score': 12.36}, {'connected_gene': 'HACL1', 'score': 10.72}, {'connected_gene': 'FGD5', 'score': 9.94}, {'connected_gene': 'EAF1-AS1', 'score': 9.88}, {'connected_gene': 'TMEM43', 'score': 9.7}, {'connected_gene': 'FGD5-AS1', 'score': 6.97}]
chr3	GH03I015600	15600379	15602876	2.29	[{'connected_gene': 'HACL1', 'score': 570.93}, {'connected_gene': 'BTD', 'score': 550.77}, {'connected_gene': 'CCDC174', 'score': 71.03}, {'connected_gene': 'NR2C2', 'score': 50.54}, {'connected_gene': 'SH3BP5-AS1', 'score': 46.56}, {'connected_gene': 'CAPN7', 'score': 27.42}, {'connected_gene': 'ENSG00000270409', 'score': 18.94}, {'connected_gene': 'EAF1-AS1', 'score': 12.61}, {'connected_gene': 'MRPS25', 'score': 9.72}, {'connected_gene': 'COLQ', 'score': 4.88}]
chr3	GH03I015054	15054780	15055797	0.74	[{'connected_gene': 'CAPN7', 'score': 9.81}, {'connected_gene': 'COL6A4P1', 'score': 9.81}, {'connected_gene': 'FGD5-AS1', 'score': 9.35}, {'connected_gene': 'GC03M015052', 'score': 0.77}, {'connected_gene': 'PIR50374', 'score': 0.77}, {'connected_gene': 'MRPS25', 'score': 0.39}, {'connected_gene': 'PIRC12', 'score': 0.39}]
chr3	GH03I015049	15049989	15053528	0.99	[{'connected_gene': 'GC03M015052', 'score': 550.77}, {'connected_gene': 'PIR43410', 'score': 550.77}, {'connected_gene': 'PIR51108', 'score': 550.77}, {'connected_gene': 'PIR37417', 'score': 550.77}, {'connected_gene': 'PIR32672', 'score': 550.77}, {'connected_gene': 'PIR50374', 'score': 550.77}, {'connected_gene': 'COL6A4P1', 'score': 10.11}, {'connected_gene': 'CAPN7', 'score': 10.11}, {'connected_gene': 'FGD5-AS1', 'score': 9.86}, {'connected_gene': 'MRPS25', 'score': 0.39}, {'connected_gene': 'PIRC12', 'score': 0.39}, {'connected_gene': 'NR2C2', 'score': 0.15}]
chr3	GH03I014958	14958110	14960185	0.66	[{'connected_gene': 'GC03P014960', 'score': 550.77}, {'connected_gene': 'PIR42856', 'score': 550.77}, {'connected_gene': 'FGD5-AS1', 'score': 10.11}, {'connected_gene': 'RPS24P10', 'score': 9.15}, {'connected_gene': 'MRPS25', 'score': 6.27}, {'connected_gene': 'NR2C2', 'score': 0.39}]