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
ENST00000354171	[[1103935, 1104126], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106240, 1106265], [1106398, 1106458], [1106538, 1106778]]	[[1104042, 1104126], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106240, 1106265], [1106398, 1106458], [1106538, 1106571]]
ENST00000589115	[[1104006, 1104126], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106398, 1106458], [1106538, 1106786]]	[[1104042, 1104126], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106398, 1106458], [1106538, 1106545]]
ENST00000593032	[[1104066, 1104126], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106179, 1106265], [1106398, 1106442]]	[[1104066, 1104126], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106179, 1106265], [1106398, 1106442]]
ENST00000588919	[[1104071, 1104126], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106240, 1106265], [1106376, 1106458], [1106538, 1106787]]	[[1104071, 1104126], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106240, 1106265], [1106376, 1106458], [1106538, 1106765]]
ENST00000585362	[[1104414, 1104928], [1105184, 1105279], [1105364, 1105509]]	[[1104733, 1104928], [1105184, 1105279], [1105364, 1105509]]
ENST00000587648	[[1105109, 1105279], [1105364, 1105509], [1105656, 1105808], [1106240, 1106265], [1106398, 1106458], [1106538, 1106563]]	[[1105220, 1105279], [1105364, 1105509], [1105656, 1105808], [1106240, 1106265], [1106398, 1106458], [1106538, 1106563]]
ENST00000592940	[[1105183, 1105279], [1105364, 1105509], [1105656, 1106265], [1106398, 1106458], [1106538, 1106787]]	None
ENST00000585480	[[1105452, 1105509], [1105656, 1105808], [1106240, 1106265], [1106398, 1106458], [1106571, 1106778]]	[[1105452, 1105509], [1105656, 1105808], [1106240, 1106265], [1106398, 1106458], [1106571, 1106778]]
ENST00000587932	[[1105583, 1105847]]	None
NM_002085	[[1103924, 1104126], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106240, 1106265], [1106398, 1106458], [1106538, 1106788]]	[[1104042, 1104126], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106240, 1106265], [1106398, 1106458], [1106538, 1106571]]
NM_001039847	[[1103924, 1104126], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106240, 1106265], [1106376, 1106458], [1106538, 1106788]]	[[1104042, 1104126], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106240, 1106265], [1106376, 1106458], [1106538, 1106639]]
NM_001039848	[[1104476, 1104928], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106240, 1106265], [1106398, 1106458], [1106538, 1106788]]	[[1104733, 1104928], [1105184, 1105279], [1105364, 1105509], [1105656, 1105808], [1106240, 1106265], [1106398, 1106458], [1106538, 1106571]]

Promoter

Chrom	Start	End	Description
chr19	1103987	1103998	CAGE_peak_2_at_GPX4_5end
chr19	1104470	1104488	CAGE_peak_6_at_GPX4_5end
chr19	1104593	1104626	CAGE_peak_3_at_GPX4_5end
chr19	1104627	1104690	CAGE_peak_1_at_GPX4_5end
chr19	1104697	1104746	CAGE_peak_4_at_GPX4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I001122	1122863	1124148	0.95	[{'connected_gene': 'STK11', 'score': 12.42}, {'connected_gene': 'SBNO2', 'score': 12.42}, {'connected_gene': 'POLR2E', 'score': 6.46}, {'connected_gene': 'GPX4', 'score': 5.6}, {'connected_gene': 'GC19M001134', 'score': 0.37}, {'connected_gene': 'GC19P001106', 'score': 0.37}]
chr19	GH19I001093	1093394	1096259	2.24	[{'connected_gene': 'POLR2E', 'score': 567.0}, {'connected_gene': 'GPX4', 'score': 13.03}, {'connected_gene': 'ARHGAP45', 'score': 11.48}, {'connected_gene': 'PIR52456', 'score': 0.44}]
chr19	GH19I001090	1090687	1091769	0.31	[{'connected_gene': 'POLR2E', 'score': 31.67}, {'connected_gene': 'GPX4', 'score': 6.68}, {'connected_gene': 'PIR52456', 'score': 0.77}]
chr19	GH19I000710	710143	710459	0.82	[{'connected_gene': 'PALM', 'score': 558.8}, {'connected_gene': 'C2CD4C', 'score': 1.99}, {'connected_gene': 'GPX4', 'score': 1.45}, {'connected_gene': 'GC19M000724', 'score': 0.31}]
chr19	GH19I001097	1097570	1114561	2.85	[{'connected_gene': 'GPX4', 'score': 571.75}, {'connected_gene': 'GC19P001105', 'score': 550.77}, {'connected_gene': 'GC19P001106', 'score': 550.77}, {'connected_gene': 'CIRBP', 'score': 44.77}, {'connected_gene': 'TMEM259', 'score': 30.42}, {'connected_gene': 'ENSG00000267283', 'score': 20.34}, {'connected_gene': 'LOC100288123', 'score': 18.77}, {'connected_gene': 'ENSG00000261526', 'score': 14.52}, {'connected_gene': 'MED16', 'score': 13.82}, {'connected_gene': 'TCF3', 'score': 13.73}, {'connected_gene': 'PTBP1', 'score': 12.78}, {'connected_gene': 'WDR18', 'score': 11.92}, {'connected_gene': 'GRIN3B', 'score': 11.23}, {'connected_gene': 'SCAMP4', 'score': 11.09}, {'connected_gene': 'RPS15', 'score': 10.6}, {'connected_gene': 'MEX3D', 'score': 10.13}, {'connected_gene': 'SBNO2', 'score': 7.19}, {'connected_gene': 'POLR2E', 'score': 6.8}, {'connected_gene': 'FSTL3', 'score': 6.12}, {'connected_gene': 'ABCA7', 'score': 5.12}, {'connected_gene': 'PLK5', 'score': 5.03}, {'connected_gene': 'MIDN', 'score': 4.08}, {'connected_gene': 'ARHGAP45', 'score': 2.32}]
chr19	GH19I001406	1406078	1419581	2.79	[{'connected_gene': 'DAZAP1', 'score': 571.85}, {'connected_gene': 'TCF3', 'score': 51.42}, {'connected_gene': 'SF3A2', 'score': 49.4}, {'connected_gene': 'TMEM259', 'score': 46.61}, {'connected_gene': 'PTBP1', 'score': 36.05}, {'connected_gene': 'LOC100288123', 'score': 35.55}, {'connected_gene': 'GRIN3B', 'score': 28.03}, {'connected_gene': 'RPS15', 'score': 24.67}, {'connected_gene': 'ENSG00000267317', 'score': 23.62}, {'connected_gene': 'CIRBP', 'score': 23.26}, {'connected_gene': 'MED16', 'score': 21.37}, {'connected_gene': 'ATP8B3', 'score': 11.98}, {'connected_gene': 'CSNK1G2', 'score': 11.2}, {'connected_gene': 'DOT1L', 'score': 10.77}, {'connected_gene': 'SPPL2B', 'score': 10.22}, {'connected_gene': 'CNN2', 'score': 10.03}, {'connected_gene': 'C19orf24', 'score': 9.98}, {'connected_gene': 'RNF126', 'score': 9.89}, {'connected_gene': 'SBNO2', 'score': 9.84}, {'connected_gene': 'POLR2E', 'score': 3.99}, {'connected_gene': 'GPX4', 'score': 3.17}, {'connected_gene': 'REXO1', 'score': 1.97}, {'connected_gene': 'ARHGAP45', 'score': 1.92}, {'connected_gene': 'SCAMP4', 'score': 1.52}, {'connected_gene': 'ADAT3', 'score': 1.52}, {'connected_gene': 'ABHD17A', 'score': 1.44}, {'connected_gene': 'UQCR11', 'score': 1.28}, {'connected_gene': 'GC19P001423', 'score': 0.44}]
chr19	GH19I001164	1164400	1174911	2.76	[{'connected_gene': 'SBNO2', 'score': 556.38}, {'connected_gene': 'LOC102725180', 'score': 550.77}, {'connected_gene': 'DAZAP1', 'score': 32.71}, {'connected_gene': 'LOC100288123', 'score': 31.96}, {'connected_gene': 'TMEM259', 'score': 26.44}, {'connected_gene': 'PTBP1', 'score': 24.56}, {'connected_gene': 'TCF3', 'score': 22.67}, {'connected_gene': 'MIER2', 'score': 22.32}, {'connected_gene': 'CIRBP', 'score': 21.82}, {'connected_gene': 'MED16', 'score': 18.76}, {'connected_gene': 'MEX3D', 'score': 14.21}, {'connected_gene': 'ENSG00000267317', 'score': 13.88}, {'connected_gene': 'RPS15', 'score': 11.56}, {'connected_gene': 'GRIN3B', 'score': 10.95}, {'connected_gene': 'DOT1L', 'score': 10.51}, {'connected_gene': 'POLRMT', 'score': 9.87}, {'connected_gene': 'AP3D1', 'score': 9.69}, {'connected_gene': 'GPX4', 'score': 6.44}, {'connected_gene': 'WDR18', 'score': 6.32}, {'connected_gene': 'ABCA7', 'score': 6.18}, {'connected_gene': 'CFD', 'score': 1.83}, {'connected_gene': 'ATP5F1D', 'score': 1.49}, {'connected_gene': 'LOC102723798', 'score': 0.44}]
chr19	GH19I000867	867005	867400	0.69	[{'connected_gene': 'CFD', 'score': 22.93}, {'connected_gene': 'MED16', 'score': 8.78}, {'connected_gene': 'ODF3L2', 'score': 4.95}, {'connected_gene': 'ATP5F1D', 'score': 4.34}, {'connected_gene': 'GPX4', 'score': 4.21}, {'connected_gene': 'TPGS1', 'score': 3.69}, {'connected_gene': 'CNN2', 'score': 2.75}, {'connected_gene': 'POLRMT', 'score': 2.16}, {'connected_gene': 'BSG', 'score': 1.73}, {'connected_gene': 'C19orf24', 'score': 1.17}, {'connected_gene': 'PIR33777', 'score': 0.44}]
chr19	GH19I000778	778481	779755	1.54	[{'connected_gene': 'GC19P000784', 'score': 550.77}, {'connected_gene': 'MIDN', 'score': 5.92}, {'connected_gene': 'BSG', 'score': 1.35}, {'connected_gene': 'GPX4', 'score': 1.25}, {'connected_gene': 'CNN2', 'score': 1.24}, {'connected_gene': 'GC19P000771', 'score': 0.44}]
chr19	GH19I001086	1086064	1089400	1.14	[{'connected_gene': 'PIR52456', 'score': 550.77}, {'connected_gene': 'POLR2E', 'score': 31.2}, {'connected_gene': 'ABCA7', 'score': 14.79}, {'connected_gene': 'ARHGAP45', 'score': 9.32}, {'connected_gene': 'GPX4', 'score': 6.99}]
chr19	GH19I001146	1146216	1147923	0.74	[{'connected_gene': 'GC19P001145', 'score': 550.77}, {'connected_gene': 'SBNO2', 'score': 13.76}, {'connected_gene': 'STK11', 'score': 13.75}, {'connected_gene': 'GPX4', 'score': 7.03}, {'connected_gene': 'CNN2', 'score': 4.87}, {'connected_gene': 'LOC102723798', 'score': 0.37}]