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
ENST00000589144	[[19386826, 19387483], [19387755, 19387885], [19388542, 19388688], [19389498, 19389605], [19390021, 19390199], [19390993, 19391100], [19407797, 19408153], [19413073, 19413252], [19414156, 19414257], [19414532, 19414637]]	[[19413223, 19413252], [19414156, 19414257], [19414532, 19414637]]
ENST00000247001	[[19387319, 19387483], [19387755, 19387885], [19388542, 19388688], [19389498, 19389605], [19390021, 19390199], [19390993, 19391100], [19407797, 19408153], [19413073, 19413197], [19414156, 19414257], [19414532, 19414656], [19416657, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431653]]	[[19387456, 19387483], [19387755, 19387885], [19388542, 19388688], [19389498, 19389605], [19390021, 19390199], [19390993, 19391100], [19407797, 19408153], [19413073, 19413197], [19414156, 19414257], [19414532, 19414656], [19416657, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431305]]
ENST00000591007	[[19387321, 19387483], [19387755, 19387885], [19388542, 19388688], [19389498, 19389605], [19390021, 19390199], [19390993, 19391100], [19407797, 19408153], [19413073, 19413264]]	None
ENST00000588731	[[19387321, 19387483], [19387755, 19387885], [19388542, 19388688], [19389498, 19389605], [19390021, 19390199], [19390993, 19391100], [19407797, 19408153], [19413073, 19413197], [19414156, 19414257], [19414532, 19414852], [19416657, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431318]]	[[19414721, 19414852], [19416657, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431305]]
ENST00000587119	[[19387322, 19387483], [19387755, 19387885], [19388542, 19388688], [19389498, 19389605], [19390021, 19390199], [19390993, 19391100], [19407797, 19408153], [19413073, 19413197], [19414156, 19414257], [19414532, 19414852], [19416657, 19416885], [19427230, 19427402], [19431271, 19431318]]	[[19416701, 19416885], [19427230, 19427402], [19431271, 19431305]]
ENST00000592188	[[19387323, 19387483], [19387755, 19387885], [19388542, 19388688], [19389498, 19389605], [19390021, 19390199], [19390993, 19392301]]	None
ENST00000585763	[[19407979, 19408153], [19414156, 19414257], [19416657, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431318]]	None
ENST00000586387	[[19407990, 19408153], [19413073, 19413197], [19414156, 19414495]]	None
ENST00000535070	[[19412467, 19412827], [19413073, 19413197], [19414156, 19414215], [19416657, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431318]]	[[19414195, 19414215], [19416657, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431305]]
ENST00000590439	[[19413138, 19413197], [19414156, 19414257], [19414532, 19414656], [19416657, 19416885], [19420905, 19421009], [19427230, 19427331], [19431271, 19431318]]	[[19413138, 19413197], [19414156, 19414257], [19414532, 19414656], [19416657, 19416885], [19420905, 19421009], [19427230, 19427331], [19431271, 19431280]]
ENST00000591350	[[19414159, 19414257], [19414532, 19414656], [19416657, 19416885], [19420905, 19421009], [19431271, 19431318]]	[[19420932, 19421009], [19431271, 19431305]]
ENST00000606725	[[19414532, 19414721], [19416657, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431306]]	None
ENST00000587716	[[19414533, 19414656], [19416657, 19416885], [19427230, 19427402], [19431271, 19431307]]	None
ENST00000334782	[[19414721, 19414852], [19416657, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431318]]	[[19414721, 19414852], [19416657, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431305]]
ENST00000588580	[[19416454, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431279]]	None
ENST00000585444	[[19416851, 19416885], [19420905, 19421009], [19427055, 19427402], [19431271, 19431318]]	[[19427226, 19427402], [19431271, 19431305]]
NM_172231	[[19387321, 19387483], [19387755, 19387885], [19388542, 19388688], [19389498, 19389605], [19390021, 19390199], [19390993, 19391100], [19407797, 19408153], [19413073, 19413197], [19414156, 19414257], [19414532, 19414656], [19416657, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431321]]	[[19387456, 19387483], [19387755, 19387885], [19388542, 19388688], [19389498, 19389605], [19390021, 19390199], [19390993, 19391100], [19407797, 19408153], [19413073, 19413197], [19414156, 19414257], [19414532, 19414656], [19416657, 19416885], [19420905, 19421009], [19427230, 19427402], [19431271, 19431305]]

Promoter

Chrom	Start	End	Description
chr19	19431298	19431326	CAGE_peak_1_at_SUGP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I019031	19031842	19034910	2.35	[{'connected_gene': 'ARMC6', 'score': 553.37}, {'connected_gene': 'SUGP2', 'score': 552.67}, {'connected_gene': 'ATP13A1', 'score': 27.04}, {'connected_gene': 'TMEM161A', 'score': 26.67}, {'connected_gene': 'MEF2B', 'score': 20.44}, {'connected_gene': 'ENSG00000268030', 'score': 18.92}, {'connected_gene': 'NR2C2AP', 'score': 15.07}, {'connected_gene': 'ENSG00000268938', 'score': 13.86}, {'connected_gene': 'UPF1', 'score': 13.82}, {'connected_gene': 'ENSG00000269191', 'score': 12.52}, {'connected_gene': 'ENSG00000267481', 'score': 12.31}, {'connected_gene': 'MAU2', 'score': 11.93}, {'connected_gene': 'IQCN', 'score': 10.23}, {'connected_gene': 'RFXANK', 'score': 10.17}, {'connected_gene': 'BORCS8', 'score': 10.17}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.17}, {'connected_gene': 'SLC25A42', 'score': 8.83}, {'connected_gene': 'SUGP1', 'score': 1.99}, {'connected_gene': 'DDX49', 'score': 1.95}, {'connected_gene': 'GC19M018978', 'score': 0.23}]
chr19	GH19I019320	19319272	19319481	0.4	[{'connected_gene': 'SUGP1', 'score': 550.77}, {'connected_gene': 'MAU2', 'score': 550.77}, {'connected_gene': 'PIR39883', 'score': 0.77}, {'connected_gene': 'GC19M019317', 'score': 0.77}]
chr19	GH19I019323	19323678	19324722	0.51	[{'connected_gene': 'SUGP1', 'score': 0.77}, {'connected_gene': 'MAU2', 'score': 0.77}, {'connected_gene': 'GC19M019332', 'score': 0.37}]
chr19	GH19I018587	18587628	18591251	2.32	[{'connected_gene': 'REX1BD', 'score': 563.01}, {'connected_gene': 'ENSG00000268030', 'score': 85.21}, {'connected_gene': 'UPF1', 'score': 78.17}, {'connected_gene': 'ENSG00000268938', 'score': 65.19}, {'connected_gene': 'NR2C2AP', 'score': 64.28}, {'connected_gene': 'ENSG00000269191', 'score': 56.38}, {'connected_gene': 'MAU2', 'score': 53.44}, {'connected_gene': 'IQCN', 'score': 52.41}, {'connected_gene': 'MEF2B', 'score': 37.12}, {'connected_gene': 'ELL', 'score': 28.89}, {'connected_gene': 'KXD1', 'score': 24.04}, {'connected_gene': 'UBA52', 'score': 21.91}, {'connected_gene': 'RPL18A', 'score': 19.97}, {'connected_gene': 'SUGP2', 'score': 18.87}, {'connected_gene': 'TMEM161A', 'score': 11.94}, {'connected_gene': 'TSSK6', 'score': 11.43}, {'connected_gene': 'RFXANK', 'score': 10.0}, {'connected_gene': 'SUGP1', 'score': 9.9}, {'connected_gene': 'GATAD2A', 'score': 9.86}, {'connected_gene': 'CRLF1', 'score': 8.19}, {'connected_gene': 'TMEM59L', 'score': 0.37}]
chr19	GH19I019328	19328801	19329914	0.63	[{'connected_gene': 'GATAD2A', 'score': 13.86}, {'connected_gene': 'HAPLN4', 'score': 12.15}, {'connected_gene': 'SUGP2', 'score': 9.87}, {'connected_gene': 'SUGP1', 'score': 0.44}, {'connected_gene': 'MAU2', 'score': 0.44}, {'connected_gene': 'GC19M019332', 'score': 0.39}]
chr19	GH19I019275	19275837	19277807	0.31	[{'connected_gene': 'NDUFA13', 'score': 29.62}, {'connected_gene': 'TM6SF2', 'score': 14.7}, {'connected_gene': 'GATAD2A', 'score': 13.85}, {'connected_gene': 'MAU2', 'score': 7.67}, {'connected_gene': 'GC19M019307', 'score': 0.29}, {'connected_gene': 'SUGP1', 'score': 0.26}]
chr19	GH19I019333	19333893	19335240	0.4	[{'connected_gene': 'HAPLN4', 'score': 12.04}, {'connected_gene': 'RFXANK', 'score': 11.24}, {'connected_gene': 'BORCS8-MEF2B', 'score': 11.24}, {'connected_gene': 'BORCS8', 'score': 11.24}, {'connected_gene': 'MEF2B', 'score': 11.23}, {'connected_gene': 'MAU2', 'score': 8.17}, {'connected_gene': 'YJEFN3', 'score': 4.58}, {'connected_gene': 'GC19M019332', 'score': 0.44}, {'connected_gene': 'SUGP1', 'score': 0.39}]
chr19	GH19I018657	18657160	18661749	1.54	[{'connected_gene': 'MAU2', 'score': 22.63}, {'connected_gene': 'IQCN', 'score': 22.61}, {'connected_gene': 'ENSG00000268030', 'score': 22.19}, {'connected_gene': 'UPF1', 'score': 21.58}, {'connected_gene': 'SUGP2', 'score': 18.88}, {'connected_gene': 'CRTC1', 'score': 15.71}, {'connected_gene': 'TSSK6', 'score': 11.43}, {'connected_gene': 'ENSG00000268938', 'score': 10.63}, {'connected_gene': 'UNC13A', 'score': 10.54}, {'connected_gene': 'TMEM59L', 'score': 10.46}, {'connected_gene': 'NR2C2AP', 'score': 10.46}, {'connected_gene': 'ENSG00000269191', 'score': 10.03}, {'connected_gene': 'SUGP1', 'score': 9.9}, {'connected_gene': 'IFI30', 'score': 5.55}, {'connected_gene': 'CRLF1', 'score': 4.81}, {'connected_gene': 'KLHL26', 'score': 0.34}]
chr19	GH19I019319	19319600	19322201	2.01	[{'connected_gene': 'MAU2', 'score': 564.64}, {'connected_gene': 'SUGP1', 'score': 552.15}, {'connected_gene': 'GATAD2A', 'score': 23.84}, {'connected_gene': 'ATP13A1', 'score': 15.13}, {'connected_gene': 'ENSG00000268938', 'score': 14.44}, {'connected_gene': 'ZNF506', 'score': 13.8}, {'connected_gene': 'ZNF14', 'score': 13.67}, {'connected_gene': 'MEF2B', 'score': 13.49}, {'connected_gene': 'NR2C2AP', 'score': 13.16}, {'connected_gene': 'ENSG00000268030', 'score': 12.36}, {'connected_gene': 'GMIP', 'score': 11.66}, {'connected_gene': 'ENSG00000267481', 'score': 10.94}, {'connected_gene': 'UPF1', 'score': 10.76}, {'connected_gene': 'ENSG00000269191', 'score': 10.6}, {'connected_gene': 'KXD1', 'score': 10.56}, {'connected_gene': 'YJEFN3', 'score': 4.57}, {'connected_gene': 'PBX4', 'score': 2.82}, {'connected_gene': 'NCAN', 'score': 2.22}, {'connected_gene': 'SUGP2', 'score': 1.58}, {'connected_gene': 'GC19M019332', 'score': 0.34}]
chr19	GH19I018458	18458949	18461825	1.16	[{'connected_gene': 'SSBP4', 'score': 18.65}, {'connected_gene': 'SUGP2', 'score': 10.49}, {'connected_gene': 'NR2C2AP', 'score': 10.45}, {'connected_gene': 'ENSG00000268030', 'score': 10.09}, {'connected_gene': 'MAU2', 'score': 10.05}, {'connected_gene': 'SUGP1', 'score': 9.71}, {'connected_gene': 'UPF1', 'score': 9.68}, {'connected_gene': 'ELL', 'score': 9.26}, {'connected_gene': 'PGPEP1', 'score': 5.02}, {'connected_gene': 'ENSG00000280121', 'score': 0.39}, {'connected_gene': 'GC19M018475', 'score': 0.37}]
chr19	GH19I019299	19299269	19299341	0.22	[{'connected_gene': 'GC19M019307', 'score': 0.44}, {'connected_gene': 'SUGP1', 'score': 0.34}, {'connected_gene': 'TM6SF2', 'score': 0.31}]