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
ENST00000592514	[[10362576, 10362685], [10362821, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369361], [10370292, 10370454]]	[[10362929, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369361], [10370292, 10370454]]
ENST00000591054	[[10362619, 10362685], [10362821, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10368897, 10369004], [10369088, 10369198], [10369284, 10369343]]	[[10362929, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10368897, 10368954]]
ENST00000307422	[[10362639, 10362685], [10362821, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369361], [10370292, 10370719]]	[[10362929, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369361], [10370292, 10370489]]
ENST00000253099	[[10362642, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369361], [10370292, 10370721]]	[[10362929, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369361], [10370292, 10370489]]
ENST00000590150	[[10362673, 10362986], [10363039, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10368910]]	[[10362929, 10362986], [10363039, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10368910]]
ENST00000590669	[[10362685, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369801]]	[[10362929, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369414]]
ENST00000393733	[[10362902, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369361], [10369847, 10370701]]	[[10362929, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369361], [10369847, 10370182]]
ENST00000592071	[[10362933, 10362986], [10363072, 10363377], [10365264, 10366393]]	None
ENST00000588502	[[10362951, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369299]]	[[10363018, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369202]]
ENST00000588963	[[10362980, 10362986], [10363072, 10363139], [10363226, 10363705]]	None
ENST00000590702	[[10365295, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369718]]	[[10365295, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369202]]
NM_146387	[[10362639, 10362685], [10362821, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369361], [10370292, 10370721]]	[[10362929, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369361], [10370292, 10370489]]
NM_015956	[[10362639, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369361], [10370292, 10370721]]	[[10362929, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369361], [10370292, 10370489]]
NM_146388	[[10362639, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10370736]]	[[10362929, 10362986], [10363072, 10363139], [10363226, 10363377], [10365264, 10365316], [10367383, 10367501], [10368897, 10369004], [10369088, 10369198], [10369284, 10369414]]

Promoter

Chrom	Start	End	Description
chr19	10362603	10362686	CAGE_peak_2_at_MRPL4_5end
chr19	10362692	10362703	CAGE_peak_3_at_MRPL4_5end
chr19	10362882	10362939	CAGE_peak_1_at_MRPL4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I010224	10224447	10232352	2.19	[{'connected_gene': 'S1PR2', 'score': 557.9}, {'connected_gene': 'ILF3', 'score': 15.02}, {'connected_gene': 'TIMM29', 'score': 14.79}, {'connected_gene': 'PPAN', 'score': 13.99}, {'connected_gene': 'KRI1', 'score': 13.38}, {'connected_gene': 'ZNF561', 'score': 12.95}, {'connected_gene': 'ZNF426', 'score': 12.88}, {'connected_gene': 'ZNF699', 'score': 12.08}, {'connected_gene': 'FBXL12', 'score': 11.64}, {'connected_gene': 'LOC100419831', 'score': 10.69}, {'connected_gene': 'ZNF846', 'score': 9.98}, {'connected_gene': 'EIF3G', 'score': 9.94}, {'connected_gene': 'ZNF266', 'score': 9.78}, {'connected_gene': 'MRPL4', 'score': 8.32}, {'connected_gene': 'C19orf66', 'score': 4.62}, {'connected_gene': 'DNMT1', 'score': 0.77}, {'connected_gene': 'MIR4322', 'score': 0.77}, {'connected_gene': 'GC19M010222', 'score': 0.44}]
chr19	GH19I010118	10118584	10122507	2.06	[{'connected_gene': 'EIF3G', 'score': 556.07}, {'connected_gene': 'KRI1', 'score': 22.09}, {'connected_gene': 'ZNF266', 'score': 20.69}, {'connected_gene': 'PPAN', 'score': 17.75}, {'connected_gene': 'ILF3', 'score': 16.57}, {'connected_gene': 'RAVER1', 'score': 15.76}, {'connected_gene': 'FBXL12', 'score': 15.05}, {'connected_gene': 'DNMT1', 'score': 14.75}, {'connected_gene': 'TIMM29', 'score': 12.86}, {'connected_gene': 'ZNF699', 'score': 12.56}, {'connected_gene': 'ZNF317', 'score': 12.4}, {'connected_gene': 'ZNF561', 'score': 11.87}, {'connected_gene': 'ZNF559', 'score': 9.89}, {'connected_gene': 'ZNF121', 'score': 9.86}, {'connected_gene': 'YIPF2', 'score': 9.86}, {'connected_gene': 'LOC100419831', 'score': 9.85}, {'connected_gene': 'P2RY11', 'score': 9.49}, {'connected_gene': 'KEAP1', 'score': 6.56}, {'connected_gene': 'MRPL4', 'score': 5.99}, {'connected_gene': 'GC19P010132', 'score': 0.44}, {'connected_gene': 'GC19M010177', 'score': 0.22}]
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	GH19I010126	10126138	10127242	0.31	[{'connected_gene': 'C19orf66', 'score': 13.98}, {'connected_gene': 'MRPL4', 'score': 5.43}, {'connected_gene': 'DNM2', 'score': 5.41}, {'connected_gene': 'EIF3G', 'score': 0.44}, {'connected_gene': 'GC19M010177', 'score': 0.23}]
chr19	GH19I010235	10235142	10239554	1.74	[{'connected_gene': 'S1PR5', 'score': 10.32}, {'connected_gene': 'COL5A3', 'score': 9.67}, {'connected_gene': 'RDH8', 'score': 9.67}, {'connected_gene': 'MRPL4', 'score': 9.41}, {'connected_gene': 'S1PR2', 'score': 5.44}, {'connected_gene': 'ATG4D', 'score': 3.43}, {'connected_gene': 'C19orf66', 'score': 2.39}, {'connected_gene': 'TYK2', 'score': 2.31}, {'connected_gene': 'DNM2', 'score': 1.98}, {'connected_gene': 'FBXL12', 'score': 1.8}, {'connected_gene': 'ICAM3', 'score': 1.72}, {'connected_gene': 'PPAN', 'score': 1.71}, {'connected_gene': 'ZNF846', 'score': 1.28}]
chr19	GH19I010250	10250000	10250401	1.06	[{'connected_gene': 'MRPL4', 'score': 557.52}, {'connected_gene': 'ICAM4', 'score': 12.01}, {'connected_gene': 'ICAM5', 'score': 12.01}, {'connected_gene': 'EIF3G', 'score': 11.78}, {'connected_gene': 'TYK2', 'score': 11.14}, {'connected_gene': 'C19orf66', 'score': 11.12}, {'connected_gene': 'S1PR2', 'score': 0.37}]
chr19	GH19I010206	10206168	10207166	0.8	[{'connected_gene': 'MRPL4', 'score': 11.89}, {'connected_gene': 'ICAM1', 'score': 11.86}, {'connected_gene': 'RDH8', 'score': 10.02}, {'connected_gene': 'COL5A3', 'score': 10.02}, {'connected_gene': 'C19orf66', 'score': 4.79}, {'connected_gene': 'LOC103689916', 'score': 0.39}, {'connected_gene': 'DNMT1', 'score': 0.34}, {'connected_gene': 'GC19M010177', 'score': 0.31}]
chr19	GH19I010204	10204605	10204754	0.52	[{'connected_gene': 'MRPL4', 'score': 11.89}, {'connected_gene': 'ICAM1', 'score': 11.85}, {'connected_gene': 'RDH8', 'score': 10.02}, {'connected_gene': 'COL5A3', 'score': 10.02}, {'connected_gene': 'LOC103689916', 'score': 0.39}, {'connected_gene': 'DNMT1', 'score': 0.31}, {'connected_gene': 'GC19M010177', 'score': 0.31}]
chr19	GH19I010205	10205717	10205916	0.2	[{'connected_gene': 'MRPL4', 'score': 11.89}, {'connected_gene': 'ICAM1', 'score': 11.85}, {'connected_gene': 'RDH8', 'score': 10.02}, {'connected_gene': 'COL5A3', 'score': 10.02}, {'connected_gene': 'LOC103689916', 'score': 0.39}, {'connected_gene': 'DNMT1', 'score': 0.31}, {'connected_gene': 'GC19M010177', 'score': 0.31}]
chr19	GH19I010251	10251055	10253201	2.1	[{'connected_gene': 'MRPL4', 'score': 557.45}, {'connected_gene': 'DNMT1', 'score': 44.87}, {'connected_gene': 'ILF3', 'score': 43.56}, {'connected_gene': 'LOC100128428', 'score': 33.62}, {'connected_gene': 'LOC100419831', 'score': 29.66}, {'connected_gene': 'QTRT1', 'score': 17.75}, {'connected_gene': 'KRI1', 'score': 16.01}, {'connected_gene': 'ZNF177', 'score': 14.55}, {'connected_gene': 'ENSG00000267510', 'score': 12.58}, {'connected_gene': 'ZNF562', 'score': 12.45}, {'connected_gene': 'ZNF121', 'score': 12.3}, {'connected_gene': 'ZNF699', 'score': 11.57}, {'connected_gene': 'PPAN', 'score': 11.28}, {'connected_gene': 'TIMM29', 'score': 11.24}, {'connected_gene': 'CARM1', 'score': 10.89}, {'connected_gene': 'RPL10P15', 'score': 10.58}, {'connected_gene': 'ZNF559', 'score': 10.58}, {'connected_gene': 'ILF3-AS1', 'score': 10.34}, {'connected_gene': 'RPS4XP22', 'score': 10.24}, {'connected_gene': 'UBE2L4', 'score': 9.99}, {'connected_gene': 'ZNF846', 'score': 9.87}, {'connected_gene': 'ZNF266', 'score': 9.7}, {'connected_gene': 'GC19P010259', 'score': 0.44}, {'connected_gene': 'GC19P010260', 'score': 0.44}, {'connected_gene': 'LOC105372272', 'score': 0.29}]
chr19	GH19I010240	10240110	10240651	0.7	[{'connected_gene': 'RDH8', 'score': 9.67}, {'connected_gene': 'COL5A3', 'score': 9.67}, {'connected_gene': 'S1PR2', 'score': 0.44}, {'connected_gene': 'MRPL4', 'score': 0.39}]
chr19	GH19I010244	10244438	10244574	0.2	[{'connected_gene': 'RDH8', 'score': 9.67}, {'connected_gene': 'COL5A3', 'score': 9.67}, {'connected_gene': 'MRPL4', 'score': 0.44}, {'connected_gene': 'S1PR2', 'score': 0.39}]
chr19	GH19I010241	10241694	10242064	0.4	[{'connected_gene': 'RDH8', 'score': 9.67}, {'connected_gene': 'COL5A3', 'score': 9.67}, {'connected_gene': 'MRPL4', 'score': 3.02}, {'connected_gene': 'RAVER1', 'score': 2.45}, {'connected_gene': 'PPAN', 'score': 2.28}, {'connected_gene': 'DNMT1', 'score': 2.27}, {'connected_gene': 'ILF3', 'score': 1.75}, {'connected_gene': 'KRI1', 'score': 1.54}, {'connected_gene': 'S1PR2', 'score': 0.39}]
chr19	GH19I010110	10110441	10115614	1.66	[{'connected_gene': 'P2RY11', 'score': 563.43}, {'connected_gene': 'GC19P010132', 'score': 550.77}, {'connected_gene': 'PIR48091', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 74.65}, {'connected_gene': 'ZNF559', 'score': 51.21}, {'connected_gene': 'ZNF699', 'score': 50.54}, {'connected_gene': 'ZNF266', 'score': 50.06}, {'connected_gene': 'ZNF317', 'score': 42.12}, {'connected_gene': 'FBXL12', 'score': 32.95}, {'connected_gene': 'LOC100419831', 'score': 32.09}, {'connected_gene': 'RAVER1', 'score': 32.0}, {'connected_gene': 'DNMT1', 'score': 30.12}, {'connected_gene': 'PPAN', 'score': 29.07}, {'connected_gene': 'KRI1', 'score': 28.07}, {'connected_gene': 'ZNF561', 'score': 26.68}, {'connected_gene': 'ZNF177', 'score': 23.88}, {'connected_gene': 'ENSG00000267510', 'score': 22.84}, {'connected_gene': 'ZNF426', 'score': 21.71}, {'connected_gene': 'CDC37', 'score': 19.76}, {'connected_gene': 'EIF3G', 'score': 19.5}, {'connected_gene': 'ZNF121', 'score': 19.21}, {'connected_gene': 'ILF3-AS1', 'score': 18.88}, {'connected_gene': 'TIMM29', 'score': 13.25}, {'connected_gene': 'LOC100128428', 'score': 12.96}, {'connected_gene': 'TYK2', 'score': 11.37}, {'connected_gene': 'ZNF562', 'score': 11.32}, {'connected_gene': 'SMARCA4', 'score': 10.59}, {'connected_gene': 'C19orf66', 'score': 9.77}, {'connected_gene': 'MRPL4', 'score': 4.81}, {'connected_gene': 'PPAN-P2RY11', 'score': 0.44}]
chr19	GH19I010338	10338201	10340486	1.42	[{'connected_gene': 'ICAM3', 'score': 564.46}, {'connected_gene': 'ENSG00000167807', 'score': 13.72}, {'connected_gene': 'ZGLP1', 'score': 13.7}, {'connected_gene': 'TYK2', 'score': 13.0}, {'connected_gene': 'ICAM5', 'score': 12.56}, {'connected_gene': 'ICAM4', 'score': 12.55}, {'connected_gene': 'ICAM1', 'score': 12.16}, {'connected_gene': 'MRPL4', 'score': 12.13}, {'connected_gene': 'PIR48013', 'score': 0.77}]
chr19	GH19I010267	10267519	10273156	2.28	[{'connected_gene': 'ICAM1', 'score': 550.77}, {'connected_gene': 'LOC100419831', 'score': 16.77}, {'connected_gene': 'ZNF559', 'score': 13.22}, {'connected_gene': 'ZNF699', 'score': 12.53}, {'connected_gene': 'ZNF846', 'score': 12.09}, {'connected_gene': 'ILF3', 'score': 11.67}, {'connected_gene': 'ZNF426', 'score': 10.32}, {'connected_gene': 'ZNF562', 'score': 10.3}, {'connected_gene': 'MRPL4', 'score': 6.06}, {'connected_gene': 'ENSG00000267105', 'score': 0.39}, {'connected_gene': 'LOC105372272', 'score': 0.39}]
chr19	GH19I010399	10399045	10399194	0.49	[{'connected_gene': 'CDC37', 'score': 12.84}, {'connected_gene': 'ICAM1', 'score': 12.54}, {'connected_gene': 'MRPL4', 'score': 12.52}, {'connected_gene': 'ICAM5', 'score': 12.4}, {'connected_gene': 'ICAM4', 'score': 12.39}, {'connected_gene': 'RAVER1', 'score': 12.08}, {'connected_gene': 'MIR1181', 'score': 0.77}, {'connected_gene': 'GC19P010382', 'score': 0.37}]
chr19	GH19I010400	10400958	10407476	2.39	[{'connected_gene': 'MIR1181', 'score': 550.77}, {'connected_gene': 'CDC37', 'score': 550.37}, {'connected_gene': 'ICAM1', 'score': 18.24}, {'connected_gene': 'MRPL4', 'score': 12.52}, {'connected_gene': 'ICAM5', 'score': 12.39}, {'connected_gene': 'ICAM4', 'score': 12.38}, {'connected_gene': 'RAVER1', 'score': 12.07}, {'connected_gene': 'PDE4A', 'score': 10.77}, {'connected_gene': 'TYK2', 'score': 5.84}, {'connected_gene': 'C19orf38', 'score': 4.48}, {'connected_gene': 'P2RY11', 'score': 2.08}, {'connected_gene': 'ICAM3', 'score': 1.7}, {'connected_gene': 'DNM2', 'score': 1.29}, {'connected_gene': 'GC19P010412', 'score': 0.44}]
chr19	GH19I010390	10390785	10390954	0.76	[{'connected_gene': 'ZGLP1', 'score': 13.02}, {'connected_gene': 'ICAM5', 'score': 12.99}, {'connected_gene': 'ICAM1', 'score': 12.84}, {'connected_gene': 'MRPL4', 'score': 12.83}, {'connected_gene': 'ICAM4', 'score': 12.38}, {'connected_gene': 'EIF3G', 'score': 11.1}, {'connected_gene': 'GC19P010382', 'score': 0.44}, {'connected_gene': 'MIR1181', 'score': 0.39}]
chr19	GH19I010388	10388965	10389154	0.81	[{'connected_gene': 'ZGLP1', 'score': 13.03}, {'connected_gene': 'ICAM5', 'score': 13.0}, {'connected_gene': 'ICAM1', 'score': 12.84}, {'connected_gene': 'MRPL4', 'score': 12.83}, {'connected_gene': 'ICAM4', 'score': 12.38}, {'connected_gene': 'EIF3G', 'score': 11.11}, {'connected_gene': 'GC19P010382', 'score': 0.44}, {'connected_gene': 'MIR1181', 'score': 0.39}]
chr19	GH19I010389	10389945	10390094	0.43	[{'connected_gene': 'ZGLP1', 'score': 13.02}, {'connected_gene': 'ICAM5', 'score': 12.99}, {'connected_gene': 'ICAM1', 'score': 12.84}, {'connected_gene': 'MRPL4', 'score': 12.83}, {'connected_gene': 'ICAM4', 'score': 12.38}, {'connected_gene': 'EIF3G', 'score': 11.1}, {'connected_gene': 'GC19P010382', 'score': 0.44}, {'connected_gene': 'MIR1181', 'score': 0.39}]
chr19	GH19I010258	10258625	10260920	0.81	[{'connected_gene': 'GC19P010260', 'score': 550.77}, {'connected_gene': 'GC19P010259', 'score': 550.77}, {'connected_gene': 'ENSG00000267105', 'score': 550.77}, {'connected_gene': 'MRPL4', 'score': 14.56}, {'connected_gene': 'C19orf66', 'score': 6.55}, {'connected_gene': 'LOC105372272', 'score': 0.31}]
chr19	GH19I009927	9927510	9927774	0.63	[{'connected_gene': 'GC19P009927', 'score': 550.77}, {'connected_gene': 'COL5A3', 'score': 11.87}, {'connected_gene': 'RDH8', 'score': 11.87}, {'connected_gene': 'C19orf66', 'score': 11.53}, {'connected_gene': 'UBL5', 'score': 11.09}, {'connected_gene': 'MRPL4', 'score': 10.24}, {'connected_gene': 'ICAM1', 'score': 10.24}, {'connected_gene': 'OLFM2', 'score': 0.44}]