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
ENST00000589181	[[10203013, 10203455], [10204024, 10204295], [10204488, 10204556], [10205433, 10205614], [10206657, 10207274]]	[[10203264, 10203455], [10204024, 10204295], [10204488, 10204556], [10205433, 10205614], [10206657, 10207239]]
ENST00000592641	[[10203014, 10203455], [10204024, 10204295], [10204368, 10204556], [10205433, 10205614], [10206657, 10207249], [10213227, 10213335]]	[[10203264, 10203455], [10204024, 10204295], [10204368, 10204556], [10205433, 10205614], [10206657, 10207239]]
ENST00000253109	[[10203016, 10203455], [10204024, 10204295], [10204368, 10204556], [10205433, 10205614], [10206657, 10207249], [10213243, 10213472]]	[[10203264, 10203455], [10204024, 10204295], [10204368, 10204556], [10205433, 10205614], [10206657, 10207239]]
ENST00000586910	[[10205196, 10205614], [10206657, 10206807]]	None
NM_031917	[[10203012, 10203455], [10204024, 10204295], [10204368, 10204556], [10205433, 10205614], [10206657, 10207249], [10213243, 10213425]]	[[10203264, 10203455], [10204024, 10204295], [10204368, 10204556], [10205433, 10205614], [10206657, 10207239]]
NM_001321411	[[10203014, 10203455], [10204024, 10204295], [10204368, 10204556], [10205433, 10205614], [10206657, 10207249], [10213227, 10213333]]	[[10203264, 10203455], [10204024, 10204295], [10204368, 10204556], [10205433, 10205614], [10206657, 10207239]]

Promoter

Chrom	Start	End	Description
chr19	10213345	10213360	CAGE_peak_2_at_ANGPTL6_5end
chr19	10213615	10213632	CAGE_peak_1_at_ANGPTL6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I010191	10191005	10191943	0.74	[{'connected_gene': 'ANGPTL6', 'score': 11.72}, {'connected_gene': 'PPAN-P2RY11', 'score': 11.72}, {'connected_gene': 'PPAN', 'score': 11.72}, {'connected_gene': 'C19orf66', 'score': 7.12}, {'connected_gene': 'GC19M010177', 'score': 0.39}, {'connected_gene': 'LOC103689916', 'score': 0.31}, {'connected_gene': 'DNMT1', 'score': 0.28}]
chr19	GH19I010071	10071225	10071374	0.62	[{'connected_gene': 'ANGPTL6', 'score': 11.91}, {'connected_gene': 'PPAN-P2RY11', 'score': 11.91}, {'connected_gene': 'PPAN', 'score': 11.91}, {'connected_gene': 'RDH8', 'score': 11.86}, {'connected_gene': 'COL5A3', 'score': 11.84}, {'connected_gene': 'EIF3G', 'score': 11.74}, {'connected_gene': 'OLFM2', 'score': 11.14}, {'connected_gene': 'C19orf66', 'score': 0.39}, {'connected_gene': 'C3P1', 'score': 0.29}, {'connected_gene': 'MIR5589', 'score': 0.29}]
chr19	GH19I010099	10099867	10099926	0.61	[{'connected_gene': 'ANGPTL6', 'score': 550.44}, {'connected_gene': 'GC19P010091', 'score': 0.44}]
chr19	GH19I010100	10100248	10108526	2.61	[{'connected_gene': 'PPAN', 'score': 599.15}, {'connected_gene': 'ANGPTL6', 'score': 552.82}, {'connected_gene': 'PPAN-P2RY11', 'score': 550.77}, {'connected_gene': 'ZNF699', 'score': 100.79}, {'connected_gene': 'ILF3', 'score': 98.71}, {'connected_gene': 'LOC100419831', 'score': 96.44}, {'connected_gene': 'ZNF317', 'score': 84.92}, {'connected_gene': 'FBXL12', 'score': 76.82}, {'connected_gene': 'ZNF559', 'score': 75.85}, {'connected_gene': 'KRI1', 'score': 72.15}, {'connected_gene': 'ZNF561', 'score': 61.99}, {'connected_gene': 'DNMT1', 'score': 58.64}, {'connected_gene': 'ZNF562', 'score': 52.08}, {'connected_gene': 'ZNF121', 'score': 48.32}, {'connected_gene': 'YIPF2', 'score': 42.82}, {'connected_gene': 'RAVER1', 'score': 41.61}, {'connected_gene': 'ZNF177', 'score': 36.98}, {'connected_gene': 'ZNF426', 'score': 30.27}, {'connected_gene': 'CDC37', 'score': 30.22}, {'connected_gene': 'ZNF846', 'score': 29.45}, {'connected_gene': 'TIMM29', 'score': 29.22}, {'connected_gene': 'EIF3G', 'score': 27.67}, {'connected_gene': 'LOC100128428', 'score': 22.25}, {'connected_gene': 'ENSG00000267273', 'score': 18.19}, {'connected_gene': 'QTRT1', 'score': 18.03}, {'connected_gene': 'S1PR5', 'score': 17.2}, {'connected_gene': 'ENSG00000267510', 'score': 14.67}, {'connected_gene': 'SMARCA4', 'score': 12.47}, {'connected_gene': 'P2RY11', 'score': 12.2}, {'connected_gene': 'RPL10P15', 'score': 11.39}, {'connected_gene': 'TYK2', 'score': 11.23}, {'connected_gene': 'ILF3-AS1', 'score': 11.08}, {'connected_gene': 'C19orf66', 'score': 10.35}, {'connected_gene': 'UBE2L4', 'score': 10.02}, {'connected_gene': 'ENSG00000200237', 'score': 9.76}, {'connected_gene': 'FDX2', 'score': 4.37}, {'connected_gene': 'ATG4D', 'score': 2.75}, {'connected_gene': 'ICAM3', 'score': 1.42}, {'connected_gene': 'SNORD105', 'score': 0.77}, {'connected_gene': 'GC19P010110', 'score': 0.77}, {'connected_gene': 'GC19P010091', 'score': 0.39}]
chr19	GH19I010197	10197601	10201814	0.86	[{'connected_gene': 'C19orf66', 'score': 19.46}, {'connected_gene': 'ANGPTL6', 'score': 17.11}, {'connected_gene': 'S1PR2', 'score': 13.47}, {'connected_gene': 'MRPL4', 'score': 12.13}, {'connected_gene': 'ICAM1', 'score': 12.1}, {'connected_gene': 'EIF3G', 'score': 11.76}, {'connected_gene': 'SNORD105B', 'score': 11.38}, {'connected_gene': 'P2RY11', 'score': 11.38}, {'connected_gene': 'PPAN', 'score': 11.37}, {'connected_gene': 'PPAN-P2RY11', 'score': 11.37}, {'connected_gene': 'SNORD105', 'score': 11.37}, {'connected_gene': 'RDH8', 'score': 10.4}, {'connected_gene': 'COL5A3', 'score': 10.4}, {'connected_gene': 'DNM2', 'score': 4.72}, {'connected_gene': 'LOC103689916', 'score': 0.37}, {'connected_gene': 'GC19M010177', 'score': 0.34}, {'connected_gene': 'DNMT1', 'score': 0.29}]
chr19	GH19I010141	10141997	10144218	0.38	[{'connected_gene': 'C19orf66', 'score': 18.23}, {'connected_gene': 'ANGPTL6', 'score': 17.05}, {'connected_gene': 'EIF3G', 'score': 13.18}, {'connected_gene': 'P2RY11', 'score': 12.5}, {'connected_gene': 'SNORD105B', 'score': 12.5}, {'connected_gene': 'PPAN-P2RY11', 'score': 12.48}, {'connected_gene': 'SNORD105', 'score': 12.48}, {'connected_gene': 'PPAN', 'score': 12.48}, {'connected_gene': 'RDH8', 'score': 10.93}, {'connected_gene': 'COL5A3', 'score': 10.92}, {'connected_gene': 'GC19M010177', 'score': 0.28}, {'connected_gene': 'DNMT1', 'score': 0.17}]
chr19	GH19I010138	10138053	10139086	0.46	[{'connected_gene': 'P2RY11', 'score': 12.47}, {'connected_gene': 'SNORD105B', 'score': 12.47}, {'connected_gene': 'ANGPTL6', 'score': 12.45}, {'connected_gene': 'SNORD105', 'score': 12.45}, {'connected_gene': 'PPAN-P2RY11', 'score': 12.45}, {'connected_gene': 'PPAN', 'score': 12.45}, {'connected_gene': 'EIF3G', 'score': 0.37}, {'connected_gene': 'GC19M010177', 'score': 0.28}, {'connected_gene': 'DNMT1', 'score': 0.16}]
chr19	GH19I010098	10098682	10099734	0.92	[{'connected_gene': 'ILF3', 'score': 26.59}, {'connected_gene': 'LOC100419831', 'score': 21.94}, {'connected_gene': 'ZNF699', 'score': 21.89}, {'connected_gene': 'ZNF317', 'score': 18.96}, {'connected_gene': 'TIMM29', 'score': 14.79}, {'connected_gene': 'PPAN', 'score': 14.3}, {'connected_gene': 'KRI1', 'score': 13.37}, {'connected_gene': 'ZNF561', 'score': 12.96}, {'connected_gene': 'ZNF426', 'score': 12.88}, {'connected_gene': 'ZNF562', 'score': 12.47}, {'connected_gene': 'ZNF121', 'score': 12.3}, {'connected_gene': 'LOC100128428', 'score': 11.79}, {'connected_gene': 'FBXL12', 'score': 11.65}, {'connected_gene': 'EIF3G', 'score': 10.13}, {'connected_gene': 'ZNF846', 'score': 10.0}, {'connected_gene': 'ZNF266', 'score': 9.77}, {'connected_gene': 'DNMT1', 'score': 9.74}, {'connected_gene': 'QTRT1', 'score': 9.74}, {'connected_gene': 'ENSG00000267387', 'score': 4.79}, {'connected_gene': 'ANGPTL6', 'score': 0.44}, {'connected_gene': 'GC19P010091', 'score': 0.44}]
chr19	GH19I010192	10192630	10195987	1.8	[{'connected_gene': 'ZNF266', 'score': 40.42}, {'connected_gene': 'RAVER1', 'score': 37.65}, {'connected_gene': 'FBXL12', 'score': 32.66}, {'connected_gene': 'PPAN', 'score': 32.16}, {'connected_gene': 'ILF3', 'score': 29.77}, {'connected_gene': 'ZNF699', 'score': 29.44}, {'connected_gene': 'ZNF561', 'score': 28.57}, {'connected_gene': 'KRI1', 'score': 26.94}, {'connected_gene': 'EIF3G', 'score': 19.74}, {'connected_gene': 'CDC37', 'score': 15.11}, {'connected_gene': 'LOC100128428', 'score': 13.47}, {'connected_gene': 'ANGPTL6', 'score': 11.72}, {'connected_gene': 'PPAN-P2RY11', 'score': 11.72}, {'connected_gene': 'ZNF562', 'score': 10.94}, {'connected_gene': 'DNMT1', 'score': 10.25}, {'connected_gene': 'ZNF559', 'score': 9.88}, {'connected_gene': 'TYK2', 'score': 9.84}, {'connected_gene': 'C19orf66', 'score': 9.63}, {'connected_gene': 'DNM2', 'score': 4.81}, {'connected_gene': 'GC19M010177', 'score': 0.37}, {'connected_gene': 'LOC103689916', 'score': 0.34}]
chr19	GH19I010101	10099756	10099794	0.31	[{'connected_gene': 'GC19P010091', 'score': 0.44}, {'connected_gene': 'ANGPTL6', 'score': 0.44}]
chr19	GH19I010095	10095617	10096975	1.64	[{'connected_gene': 'ENSG00000267510', 'score': 12.53}, {'connected_gene': 'UBE2L4', 'score': 12.04}, {'connected_gene': 'GC19P010091', 'score': 0.77}, {'connected_gene': 'ANGPTL6', 'score': 0.44}]
chr19	GH19I010091	10091811	10092752	0.98	[{'connected_gene': 'GC19P010091', 'score': 550.77}, {'connected_gene': 'ENSG00000267387', 'score': 550.77}, {'connected_gene': 'C19orf66', 'score': 0.44}, {'connected_gene': 'ANGPTL6', 'score': 0.39}]