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
ENST00000564065	[[2285816, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287650], [2287767, 2288019], [2288362, 2288712]]	[[2286817, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287650], [2287767, 2288019], [2288362, 2288419]]
ENST00000320700	[[2286467, 2286561], [2286778, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287650], [2287767, 2288019], [2288362, 2288712]]	[[2286817, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287650], [2287767, 2288019], [2288362, 2288419]]
ENST00000567494	[[2286469, 2286561], [2286801, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287650], [2287767, 2288019], [2288362, 2288712]]	[[2286817, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287650], [2287767, 2288019], [2288362, 2288419]]
ENST00000382437	[[2286725, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287477], [2287540, 2287650], [2287767, 2288019], [2288362, 2288712]]	[[2286817, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287477], [2287540, 2287650], [2287767, 2288019], [2288362, 2288419]]
ENST00000569184	[[2286826, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287650], [2287821, 2288001]]	[[2286826, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287650], [2287821, 2288001]]
NM_001301680	[[2286467, 2286561], [2286801, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287650], [2287767, 2288019], [2288362, 2288712]]	[[2286817, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287650], [2287767, 2288019], [2288362, 2288419]]
NM_001374	[[2286467, 2286561], [2286778, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287650], [2287767, 2288019], [2288362, 2288712]]	[[2286817, 2286961], [2287038, 2287127], [2287218, 2287302], [2287376, 2287650], [2287767, 2288019], [2288362, 2288419]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I001928	1928801	1930646	1.62	[{'connected_gene': 'IFT140', 'score': 20.55}, {'connected_gene': 'CCDC154', 'score': 16.6}, {'connected_gene': 'TSC2', 'score': 16.29}, {'connected_gene': 'ERVK13-1', 'score': 15.14}, {'connected_gene': 'FAHD1', 'score': 14.47}, {'connected_gene': 'EME2', 'score': 13.73}, {'connected_gene': 'NME3', 'score': 13.7}, {'connected_gene': 'CRAMP1', 'score': 13.6}, {'connected_gene': 'ENSG00000260447', 'score': 13.47}, {'connected_gene': 'TELO2', 'score': 12.53}, {'connected_gene': 'SNHG19', 'score': 12.22}, {'connected_gene': 'E4F1', 'score': 12.18}, {'connected_gene': 'HAGH', 'score': 10.57}, {'connected_gene': 'UBE2I', 'score': 10.03}, {'connected_gene': 'NUBP2', 'score': 9.82}, {'connected_gene': 'UNKL', 'score': 9.8}, {'connected_gene': 'MEIOB', 'score': 5.45}, {'connected_gene': 'RNF151', 'score': 5.34}, {'connected_gene': 'BRICD5', 'score': 3.43}, {'connected_gene': 'DNASE1L2', 'score': 1.61}, {'connected_gene': 'TBL3', 'score': 1.51}, {'connected_gene': 'MLST8', 'score': 1.47}, {'connected_gene': 'ABCA3', 'score': 1.19}, {'connected_gene': 'GC16M001938', 'score': 0.44}, {'connected_gene': 'HS3ST6', 'score': 0.44}]
chr16	GH16I002427	2427867	2430629	2.28	[{'connected_gene': 'CCNF', 'score': 557.47}, {'connected_gene': 'TBL3', 'score': 17.35}, {'connected_gene': 'AMDHD2', 'score': 12.74}, {'connected_gene': 'ZNF200', 'score': 12.7}, {'connected_gene': 'CRAMP1', 'score': 12.16}, {'connected_gene': 'ENSG00000261207', 'score': 11.42}, {'connected_gene': 'ENSG00000260051', 'score': 9.71}, {'connected_gene': 'ZNF598', 'score': 9.7}, {'connected_gene': 'LOC652276', 'score': 5.36}, {'connected_gene': 'KCTD5', 'score': 4.23}, {'connected_gene': 'DNASE1L2', 'score': 3.81}, {'connected_gene': 'ELOB', 'score': 3.1}, {'connected_gene': 'MLST8', 'score': 2.73}, {'connected_gene': 'RPS2', 'score': 2.54}, {'connected_gene': 'FLYWCH2', 'score': 2.2}, {'connected_gene': 'GFER', 'score': 2.0}, {'connected_gene': 'TRAF7', 'score': 1.7}, {'connected_gene': 'TSC2', 'score': 1.61}, {'connected_gene': 'RNF151', 'score': 1.3}, {'connected_gene': 'NTHL1', 'score': 1.2}, {'connected_gene': 'ECI1', 'score': 1.19}, {'connected_gene': 'GC16P002427', 'score': 0.77}]
chr16	GH16I002121	2121480	2129649	1.64	[{'connected_gene': 'AMDHD2', 'score': 17.65}, {'connected_gene': 'ENSG00000260051', 'score': 12.47}, {'connected_gene': 'TBL3', 'score': 11.36}, {'connected_gene': 'E4F1', 'score': 10.12}, {'connected_gene': 'CLCN7', 'score': 10.04}, {'connected_gene': 'ENSG00000261207', 'score': 9.83}, {'connected_gene': 'ENSG00000261123', 'score': 9.56}, {'connected_gene': 'MLST8', 'score': 9.06}, {'connected_gene': 'ENSG00000261240', 'score': 6.67}, {'connected_gene': 'TSC2', 'score': 6.43}, {'connected_gene': 'NME3', 'score': 3.03}, {'connected_gene': 'DNASE1L2', 'score': 2.32}, {'connected_gene': 'NUBP2', 'score': 2.11}, {'connected_gene': 'NTHL1', 'score': 1.31}, {'connected_gene': 'SLC9A3R2', 'score': 1.29}, {'connected_gene': 'GFER', 'score': 1.25}, {'connected_gene': 'GC16P002194', 'score': 0.44}, {'connected_gene': 'ENSG00000260447', 'score': 0.44}, {'connected_gene': 'PKD1', 'score': 0.39}]
chr16	GH16I002230	2230527	2232094	0.57	[{'connected_gene': 'BRICD5', 'score': 14.25}, {'connected_gene': 'MLST8', 'score': 8.98}, {'connected_gene': 'DNASE1L2', 'score': 0.77}, {'connected_gene': 'E4F1', 'score': 0.44}]
chr16	GH16I002222	2222820	2225527	2.06	[{'connected_gene': 'E4F1', 'score': 550.77}, {'connected_gene': 'PGP', 'score': 15.59}, {'connected_gene': 'IFT140', 'score': 13.62}, {'connected_gene': 'ENSG00000260646', 'score': 12.26}, {'connected_gene': 'CRAMP1', 'score': 11.05}, {'connected_gene': 'ENSG00000261123', 'score': 11.03}, {'connected_gene': 'LOC105371049', 'score': 10.59}, {'connected_gene': 'ZNF205', 'score': 10.21}, {'connected_gene': 'ENSG00000260447', 'score': 9.8}, {'connected_gene': 'DNASE1L2', 'score': 0.39}]
chr16	GH16I002226	2226077	2227149	0.85	[{'connected_gene': 'E4F1', 'score': 0.77}, {'connected_gene': 'DNASE1L2', 'score': 0.44}]
chr16	GH16I002234	2234586	2239766	1.52	[{'connected_gene': 'DNASE1L2', 'score': 550.77}, {'connected_gene': 'ENSG00000259780', 'score': 550.77}, {'connected_gene': 'ENSG00000261505', 'score': 40.48}, {'connected_gene': 'SRRM2', 'score': 34.56}, {'connected_gene': 'ENSG00000260051', 'score': 33.49}, {'connected_gene': 'THOC6', 'score': 23.44}, {'connected_gene': 'LOC105371055', 'score': 23.14}, {'connected_gene': 'ENSG00000260954', 'score': 23.01}, {'connected_gene': 'ENSG00000255513', 'score': 22.2}, {'connected_gene': 'SNORA64', 'score': 20.53}, {'connected_gene': 'AMDHD2', 'score': 19.18}, {'connected_gene': 'TELO2', 'score': 19.16}, {'connected_gene': 'TBL3', 'score': 18.24}, {'connected_gene': 'BRICD5', 'score': 17.52}, {'connected_gene': 'ZNF213-AS1', 'score': 16.98}, {'connected_gene': 'E4F1', 'score': 16.83}, {'connected_gene': 'TSC2', 'score': 16.51}, {'connected_gene': 'NUBP2', 'score': 16.25}, {'connected_gene': 'UNKL', 'score': 14.63}, {'connected_gene': 'ERVK13-1', 'score': 14.37}, {'connected_gene': 'CRAMP1', 'score': 13.65}, {'connected_gene': 'UBE2I', 'score': 11.86}, {'connected_gene': 'SPSB3', 'score': 11.52}, {'connected_gene': 'SNHG19', 'score': 10.81}, {'connected_gene': 'TRAF7', 'score': 10.7}, {'connected_gene': 'NME3', 'score': 10.67}, {'connected_gene': 'ZNF598', 'score': 10.13}, {'connected_gene': 'ENSG00000269937', 'score': 10.03}, {'connected_gene': 'SNORD60', 'score': 9.92}, {'connected_gene': 'MLST8', 'score': 8.58}, {'connected_gene': 'PGP', 'score': 5.23}, {'connected_gene': 'ENSG00000261663', 'score': 0.77}, {'connected_gene': 'ECI1', 'score': 0.37}]