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
ENST00000602841	[[151129139, 151129198], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141609]]	[[151139000, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141561]]
ENST00000461862	[[151138497, 151138679], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151140455]]	None
ENST00000368905	[[151138517, 151138679], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151142773]]	[[151138628, 151138679], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141561]]
ENST00000471039	[[151138541, 151138679], [151138946, 151139426]]	None
ENST00000368902	[[151138554, 151138728], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141614]]	[[151139000, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141561]]
ENST00000497147	[[151139144, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141587]]	None
ENST00000459799	[[151140343, 151140814], [151141461, 151141609]]	None
NR_037937	[[151138497, 151138679], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140669, 151140814], [151141461, 151142773]]	None
NM_024041	[[151138497, 151138679], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151142773]]	[[151138628, 151138679], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141561]]
NM_001204856	[[151138497, 151138728], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151142773]]	[[151139000, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141561]]

Promoter

Chrom	Start	End	Description
chr1	151138500	151138510	CAGE_peak_2_at_SCNM1_5end
chr1	151138526	151138638	CAGE_peak_1_at_SCNM1_5end
chr1	151139131	151139168	CAGE_peak_3_at_SCNM1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I151193	151193772	151201520	2.8	[{'connected_gene': 'PIP5K1A', 'score': 567.8}, {'connected_gene': 'ZNF687', 'score': 32.08}, {'connected_gene': 'LYSMD1', 'score': 21.02}, {'connected_gene': 'ARNT', 'score': 20.88}, {'connected_gene': 'RPRD2', 'score': 19.3}, {'connected_gene': 'PRPF3', 'score': 18.03}, {'connected_gene': 'SETDB1', 'score': 17.41}, {'connected_gene': 'BNIPL', 'score': 15.97}, {'connected_gene': 'PSMD4', 'score': 15.35}, {'connected_gene': 'CTSK', 'score': 14.63}, {'connected_gene': 'PI4KB', 'score': 13.58}, {'connected_gene': 'GABPB2', 'score': 13.33}, {'connected_gene': 'TMOD4', 'score': 13.26}, {'connected_gene': 'GOLPH3L', 'score': 13.15}, {'connected_gene': 'UBE2D3P3', 'score': 13.01}, {'connected_gene': 'SCNM1', 'score': 12.48}, {'connected_gene': 'RPS10P6', 'score': 11.82}, {'connected_gene': 'LOC100507670', 'score': 10.61}, {'connected_gene': 'MRPL9', 'score': 10.32}, {'connected_gene': 'C1orf56', 'score': 9.97}, {'connected_gene': 'PSMB4', 'score': 9.94}, {'connected_gene': 'RN7SL444P', 'score': 9.79}, {'connected_gene': 'POGZ', 'score': 9.77}, {'connected_gene': 'SELENBP1', 'score': 9.57}, {'connected_gene': 'RNU6-884P', 'score': 9.36}, {'connected_gene': 'PRUNE1', 'score': 9.35}, {'connected_gene': 'CTSS', 'score': 6.66}, {'connected_gene': 'HORMAD1', 'score': 4.52}, {'connected_gene': 'TUFT1', 'score': 2.37}, {'connected_gene': 'SNX27', 'score': 1.25}, {'connected_gene': 'MINDY1', 'score': 1.22}, {'connected_gene': 'VPS72', 'score': 0.77}]
chr1	GH01I151099	151099905	151100054	0.66	[{'connected_gene': 'TNFAIP8L2', 'score': 11.89}, {'connected_gene': 'SEMA6C', 'score': 11.34}, {'connected_gene': 'GABPB2', 'score': 11.31}, {'connected_gene': 'MINDY1', 'score': 10.95}, {'connected_gene': 'PRUNE1', 'score': 10.95}, {'connected_gene': 'TMOD4', 'score': 10.92}, {'connected_gene': 'SCNM1', 'score': 10.83}, {'connected_gene': 'LYSMD1', 'score': 10.81}, {'connected_gene': 'VPS72', 'score': 10.69}, {'connected_gene': 'PIP5K1A', 'score': 10.69}, {'connected_gene': 'RNU6-884P', 'score': 10.67}, {'connected_gene': 'C1orf56', 'score': 10.66}, {'connected_gene': 'BNIPL', 'score': 10.64}, {'connected_gene': 'PSMD4', 'score': 10.62}, {'connected_gene': 'RPS29P29', 'score': 0.39}]
chr1	GH01I151164	151164487	151167610	2.12	[{'connected_gene': 'LYSMD1', 'score': 561.0}, {'connected_gene': 'SCNM1', 'score': 550.44}, {'connected_gene': 'PRPF3', 'score': 81.2}, {'connected_gene': 'SETDB1', 'score': 80.61}, {'connected_gene': 'PI4KB', 'score': 65.15}, {'connected_gene': 'ARNT', 'score': 58.05}, {'connected_gene': 'UBE2D3P3', 'score': 55.7}, {'connected_gene': 'ZNF687', 'score': 54.22}, {'connected_gene': 'PIP5K1A', 'score': 46.86}, {'connected_gene': 'CTSK', 'score': 44.17}, {'connected_gene': 'GOLPH3L', 'score': 39.21}, {'connected_gene': 'GABPB2', 'score': 30.11}, {'connected_gene': 'RN7SL444P', 'score': 27.21}, {'connected_gene': 'MRPL9', 'score': 19.06}, {'connected_gene': 'APH1A', 'score': 18.68}, {'connected_gene': 'PSMB4', 'score': 18.22}, {'connected_gene': 'POGZ', 'score': 13.68}, {'connected_gene': 'RPS10P6', 'score': 11.82}, {'connected_gene': 'RPRD2', 'score': 10.95}, {'connected_gene': 'SEMA6C', 'score': 4.94}, {'connected_gene': 'BNIPL', 'score': 4.79}, {'connected_gene': 'TNFAIP8L2-SCNM1', 'score': 0.44}, {'connected_gene': 'GC01M151175', 'score': 0.39}]
chr1	GH01I151134	151134558	151137286	0.54	[{'connected_gene': 'BNIPL', 'score': 21.63}, {'connected_gene': 'GABPB2', 'score': 16.97}, {'connected_gene': 'SEMA6C', 'score': 13.11}, {'connected_gene': 'TNFAIP8L2', 'score': 11.82}, {'connected_gene': 'TMOD4', 'score': 11.15}, {'connected_gene': 'MINDY1', 'score': 11.0}, {'connected_gene': 'PRUNE1', 'score': 11.0}, {'connected_gene': 'SCNM1', 'score': 10.88}, {'connected_gene': 'LYSMD1', 'score': 10.84}, {'connected_gene': 'RNU6-884P', 'score': 10.66}, {'connected_gene': 'VPS72', 'score': 10.36}, {'connected_gene': 'PIP5K1A', 'score': 10.35}, {'connected_gene': 'PSMD4', 'score': 5.4}, {'connected_gene': 'ENSG00000261168', 'score': 0.77}]
chr1	GH01I151125	151125848	151126821	0.54	[{'connected_gene': 'BNIPL', 'score': 28.66}, {'connected_gene': 'SEMA6C', 'score': 11.44}, {'connected_gene': 'TNFAIP8L2', 'score': 11.01}, {'connected_gene': 'GABPB2', 'score': 10.87}, {'connected_gene': 'C1orf56', 'score': 10.87}, {'connected_gene': 'SCNM1', 'score': 10.54}, {'connected_gene': 'LYSMD1', 'score': 10.52}, {'connected_gene': 'MINDY1', 'score': 10.46}, {'connected_gene': 'PRUNE1', 'score': 10.46}, {'connected_gene': 'TMOD4', 'score': 10.3}, {'connected_gene': 'RNU6-884P', 'score': 10.2}, {'connected_gene': 'VPS72', 'score': 10.19}, {'connected_gene': 'PIP5K1A', 'score': 10.18}, {'connected_gene': 'PSMD4', 'score': 5.35}, {'connected_gene': 'ENSG00000261168', 'score': 0.44}, {'connected_gene': 'RPS29P29', 'score': 0.39}]
chr1	GH01I150998	150998771	150999983	1.31	[{'connected_gene': 'RNU6-884P', 'score': 11.71}, {'connected_gene': 'CERS2', 'score': 11.42}, {'connected_gene': 'ENSG00000231073', 'score': 11.4}, {'connected_gene': 'BNIPL', 'score': 11.15}, {'connected_gene': 'C1orf56', 'score': 11.12}, {'connected_gene': 'SCNM1', 'score': 9.75}, {'connected_gene': 'LYSMD1', 'score': 9.74}, {'connected_gene': 'TMOD4', 'score': 9.54}, {'connected_gene': 'MINDY1', 'score': 0.44}, {'connected_gene': 'ANXA9', 'score': 0.37}]
chr1	GH01I151000	151000932	151001658	1	[{'connected_gene': 'RNU6-884P', 'score': 11.71}, {'connected_gene': 'ENSG00000231073', 'score': 11.4}, {'connected_gene': 'CERS2', 'score': 11.4}, {'connected_gene': 'SEMA6C', 'score': 11.23}, {'connected_gene': 'BNIPL', 'score': 11.15}, {'connected_gene': 'C1orf56', 'score': 11.12}, {'connected_gene': 'SCNM1', 'score': 9.75}, {'connected_gene': 'LYSMD1', 'score': 9.74}, {'connected_gene': 'TMOD4', 'score': 9.54}, {'connected_gene': 'MINDY1', 'score': 0.44}, {'connected_gene': 'ANXA9', 'score': 0.37}]
chr1	GH01I151156	151156125	151161039	1.82	[{'connected_gene': 'TNFAIP8L2-SCNM1', 'score': 550.77}, {'connected_gene': 'TNFAIP8L2', 'score': 550.77}, {'connected_gene': 'SCNM1', 'score': 550.77}, {'connected_gene': 'SEMA6C', 'score': 16.82}, {'connected_gene': 'BNIPL', 'score': 5.76}, {'connected_gene': 'LYSMD1', 'score': 0.44}]