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

Promoter

Chrom	Start	End	Description
chr19	17378238	17378275	CAGE_peak_1_at_BABAM1_5end
chr19	17378278	17378293	CAGE_peak_2_at_BABAM1_5end
chr19	17378331	17378339	CAGE_peak_3_at_BABAM1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I017260	17259449	17260213	0.38	[{'connected_gene': 'C19orf44', 'score': 18.61}, {'connected_gene': 'SIN3B', 'score': 13.66}, {'connected_gene': 'CHERP', 'score': 13.54}, {'connected_gene': 'ENSG00000268743', 'score': 13.31}, {'connected_gene': 'MED26', 'score': 10.85}, {'connected_gene': 'ENSG00000269095', 'score': 0.77}, {'connected_gene': 'BABAM1', 'score': 0.44}, {'connected_gene': 'USHBP1', 'score': 0.34}]
chr19	GH19I017264	17264001	17269054	2.05	[{'connected_gene': 'BABAM1', 'score': 561.23}, {'connected_gene': 'ENSG00000269307', 'score': 550.77}, {'connected_gene': 'USHBP1', 'score': 550.37}, {'connected_gene': 'CHERP', 'score': 13.08}, {'connected_gene': 'ABHD8', 'score': 12.06}, {'connected_gene': 'PLVAP', 'score': 11.67}, {'connected_gene': 'F2RL3', 'score': 11.09}, {'connected_gene': 'OCEL1', 'score': 10.37}, {'connected_gene': 'GTPBP3', 'score': 8.77}, {'connected_gene': 'ENSG00000269427', 'score': 5.32}, {'connected_gene': 'ANKLE1', 'score': 4.86}, {'connected_gene': 'ENSG00000269095', 'score': 0.39}]
chr19	GH19I017259	17259135	17259404	0.2	[{'connected_gene': 'BABAM1', 'score': 8.44}, {'connected_gene': 'ABHD8', 'score': 4.61}, {'connected_gene': 'ENSG00000269095', 'score': 0.77}, {'connected_gene': 'USHBP1', 'score': 0.34}]
chr19	GH19I017239	17239839	17250193	2.3	[{'connected_gene': 'NR2F6', 'score': 568.47}, {'connected_gene': 'GC19M017243', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 26.13}, {'connected_gene': 'ENSG00000267904', 'score': 25.16}, {'connected_gene': 'MVB12A', 'score': 22.31}, {'connected_gene': 'GTPBP3', 'score': 19.74}, {'connected_gene': 'C19orf44', 'score': 15.84}, {'connected_gene': 'ENSG00000268087', 'score': 14.7}, {'connected_gene': 'OCEL1', 'score': 14.69}, {'connected_gene': 'ENSG00000268743', 'score': 12.98}, {'connected_gene': 'ENSG00000269578', 'score': 11.19}, {'connected_gene': 'FCHO1', 'score': 10.66}, {'connected_gene': 'BST2', 'score': 10.58}, {'connected_gene': 'CPAMD8', 'score': 10.53}, {'connected_gene': 'RPL18A', 'score': 10.5}, {'connected_gene': 'BABAM1', 'score': 8.33}, {'connected_gene': 'ABHD8', 'score': 8.18}, {'connected_gene': 'MRPL34', 'score': 7.11}, {'connected_gene': 'ANKLE1', 'score': 5.4}, {'connected_gene': 'ENSG00000269427', 'score': 5.04}, {'connected_gene': 'UNC13A', 'score': 4.42}, {'connected_gene': 'ENSG00000269095', 'score': 0.39}, {'connected_gene': 'USHBP1', 'score': 0.28}]
chr19	GH19I017281	17281021	17283139	1.98	[{'connected_gene': 'ANKLE1', 'score': 557.87}, {'connected_gene': 'USHBP1', 'score': 550.77}, {'connected_gene': 'MRPL34', 'score': 14.96}, {'connected_gene': 'OCEL1', 'score': 13.88}, {'connected_gene': 'ABHD8', 'score': 11.94}, {'connected_gene': 'ENSG00000269307', 'score': 0.39}, {'connected_gene': 'BABAM1', 'score': 0.39}]
chr19	GH19I017261	17260472	17261366	1.65	[{'connected_gene': 'ENSG00000269578', 'score': 32.06}, {'connected_gene': 'ENSG00000267904', 'score': 28.6}, {'connected_gene': 'CHERP', 'score': 27.24}, {'connected_gene': 'MVB12A', 'score': 24.37}, {'connected_gene': 'ENSG00000268087', 'score': 22.35}, {'connected_gene': 'COLGALT1', 'score': 21.65}, {'connected_gene': 'ENSG00000268743', 'score': 20.9}, {'connected_gene': 'C19orf44', 'score': 15.84}, {'connected_gene': 'OCEL1', 'score': 12.4}, {'connected_gene': 'GTPBP3', 'score': 11.66}, {'connected_gene': 'HAUS8', 'score': 11.42}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'PLVAP', 'score': 10.14}, {'connected_gene': 'BABAM1', 'score': 8.28}, {'connected_gene': 'NXNL1', 'score': 2.11}, {'connected_gene': 'ENSG00000269095', 'score': 0.44}, {'connected_gene': 'USHBP1', 'score': 0.34}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000598188	[[17378158, 17378336], [17379602, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17389653, 17390146]]	[[17379615, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17389653, 17389857]]
ENST00000594247	[[17378184, 17378336], [17379602, 17379900], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17388055, 17388153], [17392044, 17392058]]	[[17379615, 17379900], [17384712, 17384754]]
ENST00000359435	[[17378194, 17378336], [17379564, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17389653, 17390146]]	[[17379615, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17389653, 17389857]]
ENST00000599474	[[17378245, 17378325], [17379564, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387334]]	[[17379615, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387334]]
ENST00000599057	[[17378251, 17378336], [17379610, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994]]	[[17379615, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994]]
ENST00000595393	[[17378251, 17378336], [17379602, 17379900], [17382405, 17382464], [17387303, 17388332]]	None
ENST00000447614	[[17378251, 17378336], [17379602, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17387192, 17387217], [17387303, 17387433], [17387631, 17387718], [17389653, 17390144]]	[[17379615, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17387192, 17387217], [17387303, 17387433], [17387631, 17387718], [17389653, 17389857]]
ENST00000601043	[[17378251, 17378325], [17379602, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17389653, 17390146]]	[[17379615, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17389653, 17389857]]
ENST00000601171	[[17378265, 17378336], [17379602, 17379747], [17379850, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384982]]	[[17379615, 17379747], [17379850, 17379900], [17382405, 17382406]]
ENST00000596335	[[17378279, 17378336], [17379602, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386585, 17386634], [17387303, 17387365]]	[[17379615, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386585, 17386634], [17387303, 17387365]]
ENST00000601436	[[17378282, 17378336], [17379602, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386597, 17386634]]	[[17379615, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386597, 17386634]]
ENST00000448635	[[17378286, 17378336], [17379602, 17379900], [17382405, 17382464], [17384712, 17384833], [17387303, 17387364]]	None
ENST00000595632	[[17378310, 17378336], [17379564, 17379900], [17382405, 17382464], [17387303, 17387433], [17387631, 17387718], [17389653, 17389981]]	[[17379615, 17379900], [17382405, 17382464], [17387303, 17387433], [17387631, 17387718], [17389653, 17389857]]
ENST00000601938	[[17379367, 17379473], [17379564, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387359]]	[[17379437, 17379473], [17379564, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387359]]
ENST00000602066	[[17379493, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387411]]	[[17379615, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387411]]
ENST00000598567	[[17379805, 17379900], [17382405, 17382464], [17384712, 17384789], [17389845, 17390148]]	[[17379805, 17379900], [17382405, 17382464], [17384712, 17384789], [17389845, 17389907]]
ENST00000598382	[[17387236, 17387433], [17387631, 17387718], [17389653, 17389793]]	None
ENST00000601232	[[17387622, 17387718], [17388192, 17388288], [17389653, 17390151]]	[[17387622, 17387718], [17388192, 17388195]]
NM_001288756	[[17378184, 17378325], [17379602, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17389653, 17390162]]	[[17379615, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17389653, 17389857]]
NM_014173	[[17378184, 17378336], [17379602, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17389653, 17390162]]	[[17379615, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17389653, 17389857]]
NM_001288757	[[17378184, 17378336], [17379564, 17379900], [17382405, 17382464], [17387303, 17387433], [17387631, 17387718], [17389653, 17390162]]	[[17379615, 17379900], [17382405, 17382464], [17387303, 17387433], [17387631, 17387718], [17389653, 17389857]]
NM_001033549	[[17378184, 17378336], [17379564, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17389653, 17390162]]	[[17379615, 17379900], [17382405, 17382464], [17384712, 17384833], [17384915, 17384994], [17386609, 17386634], [17387303, 17387433], [17387631, 17387718], [17389653, 17389857]]