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
ENST00000219066	[[2089815, 2090048], [2090133, 2090239], [2093567, 2093727], [2094630, 2094801], [2096128, 2096367], [2097709, 2097867]]	[[2089924, 2090048], [2090133, 2090239], [2093567, 2093727], [2094630, 2094801], [2096128, 2096367], [2097709, 2097848]]
ENST00000566380	[[2089820, 2090048], [2090133, 2090242], [2093567, 2093727], [2096128, 2096367], [2097709, 2097787]]	[[2089924, 2090048], [2090133, 2090242], [2093567, 2093727], [2096128, 2096367], [2097709, 2097787]]
ENST00000568513	[[2089821, 2090048], [2090133, 2090239], [2093567, 2093727], [2094630, 2094801], [2096280, 2096367], [2097709, 2097795]]	[[2094673, 2094801], [2096280, 2096367], [2097709, 2097795]]
ENST00000561841	[[2089852, 2090048], [2090133, 2090239], [2092002, 2092147], [2093567, 2093727], [2094630, 2094801], [2096128, 2096367], [2097709, 2097744]]	[[2092097, 2092147], [2093567, 2093727], [2094630, 2094801], [2096128, 2096367], [2097709, 2097744]]
ENST00000561862	[[2089820, 2090048], [2090133, 2090469]]	None
ENST00000565406	[[2089820, 2090048], [2090133, 2090239], [2093567, 2093727], [2094630, 2094827]]	None
ENST00000562951	[[2089821, 2090048], [2090133, 2090239], [2093567, 2093727], [2094050, 2094080]]	None
ENST00000567727	[[2089823, 2090048], [2090133, 2090239], [2093567, 2093804]]	None
ENST00000562120	[[2093484, 2093727], [2094630, 2094801], [2096128, 2096215]]	None
NM_002528	[[2089815, 2090048], [2090133, 2090239], [2093567, 2093727], [2094630, 2094801], [2096128, 2096367], [2097709, 2097870]]	[[2089924, 2090048], [2090133, 2090239], [2093567, 2093727], [2094630, 2094801], [2096128, 2096367], [2097709, 2097848]]
NM_001318193	[[2089815, 2090048], [2090133, 2090239], [2093567, 2093727], [2096128, 2096367], [2097709, 2097870]]	[[2089924, 2090048], [2090133, 2090239], [2093567, 2093727], [2096128, 2096367], [2097709, 2097848]]
NM_001318194	[[2089815, 2090048], [2090133, 2090239], [2093567, 2093727], [2094630, 2094801], [2096280, 2096367], [2097709, 2097870]]	[[2089924, 2090048], [2090133, 2090239], [2093567, 2093727], [2094630, 2094801], [2096280, 2096304]]

Promoter

Chrom	Start	End	Description
chr16	2097807	2097856	CAGE_peak_1_at_NTHL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I002032	2032126	2044914	1.92	[{'connected_gene': 'SLC9A3R2', 'score': 550.39}, {'connected_gene': 'PKD1', 'score': 16.71}, {'connected_gene': 'RAB26', 'score': 12.8}, {'connected_gene': 'TRAF7', 'score': 12.78}, {'connected_gene': 'SNORD60', 'score': 12.78}, {'connected_gene': 'SYNGR3', 'score': 12.23}, {'connected_gene': 'ENSG00000255513', 'score': 8.4}, {'connected_gene': 'BRICD5', 'score': 6.96}, {'connected_gene': 'JPT2', 'score': 5.88}, {'connected_gene': 'HAGH', 'score': 5.24}, {'connected_gene': 'ENSG00000261123', 'score': 5.0}, {'connected_gene': 'GC16M002077', 'score': 0.77}, {'connected_gene': 'NTHL1', 'score': 0.44}, {'connected_gene': 'GC16M002068', '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	GH16I002046	2046348	2048937	2.06	[{'connected_gene': 'TSC2', 'score': 562.61}, {'connected_gene': 'NTHL1', 'score': 550.77}, {'connected_gene': 'GC16M002062', 'score': 550.77}, {'connected_gene': 'ENSG00000261505', 'score': 15.21}, {'connected_gene': 'TELO2', 'score': 15.13}, {'connected_gene': 'CRAMP1', 'score': 14.6}, {'connected_gene': 'ENSG00000260954', 'score': 13.88}, {'connected_gene': 'NUBP2', 'score': 13.01}, {'connected_gene': 'SRRM2', 'score': 12.74}, {'connected_gene': 'ERVK13-1', 'score': 12.68}, {'connected_gene': 'ENSG00000260051', 'score': 12.34}, {'connected_gene': 'ENSG00000255513', 'score': 11.81}, {'connected_gene': 'E4F1', 'score': 11.14}, {'connected_gene': 'ENSG00000260646', 'score': 10.99}, {'connected_gene': 'SNORD60', 'score': 10.75}, {'connected_gene': 'LOC105371055', 'score': 10.71}, {'connected_gene': 'SNHG19', 'score': 10.38}, {'connected_gene': 'ZNF598', 'score': 10.14}, {'connected_gene': 'SNORA64', 'score': 10.12}, {'connected_gene': 'UBE2I', 'score': 10.07}, {'connected_gene': 'IFT140', 'score': 9.96}]
chr16	GH16I002081	2081513	2083936	0.82	[{'connected_gene': 'PKD1', 'score': 12.2}, {'connected_gene': 'TSC2', 'score': 7.61}, {'connected_gene': 'ENSG00000261123', 'score': 6.76}, {'connected_gene': 'MIR1225', 'score': 0.44}, {'connected_gene': 'NTHL1', 'score': 0.29}]
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	GH16I002054	2054960	2055109	0.2	[{'connected_gene': 'NTHL1', 'score': 0.44}, {'connected_gene': 'TSC2', 'score': 0.44}, {'connected_gene': 'MIR1225', 'score': 0.28}]