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
ENST00000426530	[[47586981, 47587538], [47593022, 47593479]]	[[47587174, 47587538], [47593022, 47593114]]
ENST00000534775	[[47587009, 47587538], [47591251, 47591443], [47593022, 47593912]]	[[47587174, 47587538], [47591251, 47591394]]
ENST00000326656	[[47587150, 47587348], [47587457, 47587538], [47593022, 47593671]]	[[47587174, 47587348], [47587457, 47587538], [47593022, 47593181]]
ENST00000326674	[[47587152, 47587348], [47587457, 47587538], [47591251, 47591443], [47593022, 47593321]]	[[47587174, 47587348], [47587457, 47587538], [47591251, 47591443], [47593022, 47593181]]
ENST00000527079	[[47587449, 47587538], [47591251, 47591443], [47593022, 47595013]]	None
NM_175732	[[47586981, 47587348], [47587457, 47587538], [47591251, 47591443], [47593022, 47595013]]	[[47587174, 47587348], [47587457, 47587538], [47591251, 47591443], [47593022, 47593181]]
NM_001143984	[[47586981, 47587538], [47593022, 47595013]]	[[47587174, 47587538], [47593022, 47593114]]

Promoter

Chrom	Start	End	Description
chr11	47587001	47587012	CAGE_peak_3_at_PTPMT1_5end
chr11	47587032	47587043	CAGE_peak_4_at_PTPMT1_5end
chr11	47587098	47587122	CAGE_peak_2_at_PTPMT1_5end
chr11	47587129	47587179	CAGE_peak_1_at_PTPMT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I047476	47476984	47478463	0.66	[{'connected_gene': 'RAPSN', 'score': 12.13}, {'connected_gene': 'CELF1', 'score': 11.69}, {'connected_gene': 'PTPMT1', 'score': 11.69}, {'connected_gene': 'NDUFS3', 'score': 11.69}, {'connected_gene': 'C1QTNF4', 'score': 11.04}, {'connected_gene': 'RNU5E-10P', 'score': 10.34}, {'connected_gene': 'ENSG00000231880', 'score': 10.34}, {'connected_gene': 'MTCH2', 'score': 9.88}, {'connected_gene': 'GC11P047482', 'score': 0.77}, {'connected_gene': 'GC11M055362', 'score': 0.44}]
chr1	GH01I159211	159211201	159211600	0.67	[{'connected_gene': 'CADM3', 'score': 11.29}, {'connected_gene': 'AIM2', 'score': 11.08}, {'connected_gene': 'OR10J2P', 'score': 9.78}, {'connected_gene': 'FCER1A', 'score': 9.77}, {'connected_gene': 'OR10J3', 'score': 9.19}, {'connected_gene': 'DUSP23', 'score': 9.15}, {'connected_gene': 'ACKR1', 'score': 8.02}, {'connected_gene': 'CADM3-AS1', 'score': 0.77}, {'connected_gene': 'MPTX1', 'score': 0.2}]
chr1	GH01I159596	159596617	159599331	0.87	[{'connected_gene': 'OR10J6P', 'score': 557.66}, {'connected_gene': 'OR10J5', 'score': 10.55}, {'connected_gene': 'OR10J3', 'score': 9.53}, {'connected_gene': 'DUSP23', 'score': 4.66}, {'connected_gene': 'SLAMF9', 'score': 4.35}, {'connected_gene': 'APCS', 'score': 0.39}, {'connected_gene': 'GC01P159502', 'score': 0.15}]
chr11	GH11I047611	47611649	47611798	0.49	[{'connected_gene': 'FAM180B', 'score': 12.23}, {'connected_gene': 'PTPMT1', 'score': 11.77}, {'connected_gene': 'CELF1', 'score': 11.77}, {'connected_gene': 'NDUFS3', 'score': 11.77}, {'connected_gene': 'KBTBD4', 'score': 11.54}, {'connected_gene': 'MTCH2', 'score': 11.27}, {'connected_gene': 'ENSG00000231880', 'score': 11.22}, {'connected_gene': 'RNU5E-10P', 'score': 11.2}, {'connected_gene': 'RAPSN', 'score': 10.55}, {'connected_gene': 'AGBL2', 'score': 10.33}, {'connected_gene': 'NUP160', 'score': 9.53}, {'connected_gene': 'GC11M055369', 'score': 0.77}, {'connected_gene': 'PIR60352', 'score': 0.39}]
chr1	GH01I159907	159907071	159907220	0.2	[{'connected_gene': 'VSIG8', 'score': 18.15}, {'connected_gene': 'SNHG28', 'score': 11.03}, {'connected_gene': 'IGSF9', 'score': 11.03}, {'connected_gene': 'ENSG00000212161', 'score': 11.02}, {'connected_gene': 'FCRL6', 'score': 10.5}, {'connected_gene': 'DUSP23', 'score': 10.41}, {'connected_gene': 'PIGM', 'score': 9.49}, {'connected_gene': 'ENSG00000279430', 'score': 0.77}, {'connected_gene': 'GC01P159904', 'score': 0.77}, {'connected_gene': 'PIR60584', 'score': 0.77}, {'connected_gene': 'GC01M159886', 'score': 0.39}]
chr1	GH01I159798	159798931	159799140	0.7	[{'connected_gene': 'FCRL6', 'score': 550.77}, {'connected_gene': 'LOC729867', 'score': 10.0}, {'connected_gene': 'DUSP23', 'score': 0.37}]
chr1	GH01I159800	159800019	159800835	1.22	[{'connected_gene': 'FCRL6', 'score': 550.77}, {'connected_gene': 'LOC105371464', 'score': 0.44}, {'connected_gene': 'DUSP23', 'score': 0.37}]
chr11	GH11I047606	47606722	47608641	0.72	[{'connected_gene': 'FNBP4', 'score': 19.62}, {'connected_gene': 'FAM180B', 'score': 12.28}, {'connected_gene': 'KBTBD4', 'score': 12.13}, {'connected_gene': 'NDUFS3', 'score': 12.08}, {'connected_gene': 'PTPMT1', 'score': 11.73}, {'connected_gene': 'CELF1', 'score': 11.73}, {'connected_gene': 'ENSG00000231880', 'score': 11.32}, {'connected_gene': 'RNU5E-10P', 'score': 11.3}, {'connected_gene': 'MTCH2', 'score': 11.2}, {'connected_gene': 'AGBL2', 'score': 10.41}, {'connected_gene': 'RAPSN', 'score': 10.38}, {'connected_gene': 'PIR60352', 'score': 0.44}, {'connected_gene': 'GC11M055369', 'score': 0.44}]
chr1	GH01I158972	158972927	158973135	0.42	[{'connected_gene': 'FCER1A', 'score': 9.49}, {'connected_gene': 'OR6N1', 'score': 7.46}, {'connected_gene': 'OR6K3', 'score': 5.78}, {'connected_gene': 'OR10Z1', 'score': 5.33}, {'connected_gene': 'DUSP23', 'score': 4.35}, {'connected_gene': 'OR10R2', 'score': 4.02}, {'connected_gene': 'OR10X1', 'score': 3.6}, {'connected_gene': 'OR6N2', 'score': 3.56}, {'connected_gene': 'PYHIN1', 'score': 2.72}, {'connected_gene': 'OR6P1', 'score': 2.0}, {'connected_gene': 'OR10J1', 'score': 1.65}, {'connected_gene': 'PIR57461', 'score': 0.39}, {'connected_gene': 'IFI16', 'score': 0.31}]
chr1	GH01I159751	159751038	159754188	0.98	[{'connected_gene': 'CRP', 'score': 10.89}, {'connected_gene': 'FCRL6', 'score': 10.43}, {'connected_gene': 'DUSP23', 'score': 10.11}, {'connected_gene': 'ENSG00000212161', 'score': 9.86}, {'connected_gene': 'AIM2', 'score': 4.54}, {'connected_gene': 'RPL27P2', 'score': 0.44}]
chr11	GH11I047498	47498770	47500200	1.1	[{'connected_gene': 'PTPMT1', 'score': 11.9}, {'connected_gene': 'CELF1', 'score': 11.9}, {'connected_gene': 'NDUFS3', 'score': 11.9}, {'connected_gene': 'RAPSN', 'score': 11.31}, {'connected_gene': 'ENSG00000231880', 'score': 11.22}, {'connected_gene': 'KBTBD4', 'score': 11.22}, {'connected_gene': 'RNU5E-10P', 'score': 11.22}, {'connected_gene': 'FAM180B', 'score': 10.77}, {'connected_gene': 'C1QTNF4', 'score': 10.76}, {'connected_gene': 'MTCH2', 'score': 10.31}, {'connected_gene': 'ENSG00000270072', 'score': 0.37}, {'connected_gene': 'GC11P047482', 'score': 0.37}]
chr11	GH11I047564	47564843	47566921	2	[{'connected_gene': 'PTPMT1', 'score': 550.77}, {'connected_gene': 'CELF1', 'score': 550.77}, {'connected_gene': 'NDUFS3', 'score': 550.77}, {'connected_gene': 'NUP160', 'score': 14.59}, {'connected_gene': 'FNBP4', 'score': 14.06}, {'connected_gene': 'ENSG00000270060', 'score': 13.49}, {'connected_gene': 'ZNF408', 'score': 10.62}, {'connected_gene': 'DDB2', 'score': 10.39}, {'connected_gene': 'C1QTNF4', 'score': 8.35}, {'connected_gene': 'ENSG00000255197', 'score': 4.84}, {'connected_gene': 'PTPRJ', 'score': 4.12}, {'connected_gene': 'RNU5E-10P', 'score': 0.39}, {'connected_gene': 'GC11M055376', 'score': 0.31}]
chr1	GH01I159778	159778741	159782020	1.95	[{'connected_gene': 'DUSP23', 'score': 555.46}, {'connected_gene': 'LOC101928264', 'score': 550.77}, {'connected_gene': 'FCRL6', 'score': 10.45}, {'connected_gene': 'RPL27P2', 'score': 0.34}]
chr1	GH01I159646	159646401	159647155	0.63	[{'connected_gene': 'DUSP23', 'score': 9.54}, {'connected_gene': 'ENSG00000276632', 'score': 0.77}, {'connected_gene': 'GC01M159607', 'score': 0.28}]
chr11	GH11I047474	47474056	47475810	0.2	[{'connected_gene': 'C1QTNF4', 'score': 42.44}, {'connected_gene': 'RAPSN', 'score': 12.13}, {'connected_gene': 'PTPMT1', 'score': 11.68}, {'connected_gene': 'CELF1', 'score': 11.68}, {'connected_gene': 'NDUFS3', 'score': 11.68}, {'connected_gene': 'SLC39A13', 'score': 10.81}, {'connected_gene': 'ENSG00000231880', 'score': 10.45}, {'connected_gene': 'RNU5E-10P', 'score': 10.45}, {'connected_gene': 'MTCH2', 'score': 9.99}, {'connected_gene': 'PSMC3', 'score': 6.3}, {'connected_gene': 'GC11M055362', 'score': 0.44}, {'connected_gene': 'GC11P047482', 'score': 0.44}]
chr11	GH11I047617	47617109	47618331	0.66	[{'connected_gene': 'C1QTNF4', 'score': 12.47}, {'connected_gene': 'FAM180B', 'score': 12.21}, {'connected_gene': 'PTPMT1', 'score': 11.76}, {'connected_gene': 'CELF1', 'score': 11.76}, {'connected_gene': 'NDUFS3', 'score': 11.76}, {'connected_gene': 'MTCH2', 'score': 11.64}, {'connected_gene': 'KBTBD4', 'score': 11.59}, {'connected_gene': 'ENSG00000231880', 'score': 11.2}, {'connected_gene': 'RNU5E-10P', 'score': 11.18}, {'connected_gene': 'RAPSN', 'score': 10.55}, {'connected_gene': 'AGBL2', 'score': 10.33}, {'connected_gene': 'NUP160', 'score': 9.85}, {'connected_gene': 'PTPRJ', 'score': 4.12}, {'connected_gene': 'GC11M055369', 'score': 0.77}]
chr11	GH11I047537	47537202	47541583	1.24	[{'connected_gene': 'C1QTNF4', 'score': 16.36}, {'connected_gene': 'PTPMT1', 'score': 12.33}, {'connected_gene': 'CELF1', 'score': 12.33}, {'connected_gene': 'NDUFS3', 'score': 12.33}, {'connected_gene': 'KBTBD4', 'score': 11.83}, {'connected_gene': 'ENSG00000231880', 'score': 11.55}, {'connected_gene': 'RNU5E-10P', 'score': 11.55}, {'connected_gene': 'MADD', 'score': 11.14}, {'connected_gene': 'MTCH2', 'score': 10.8}, {'connected_gene': 'FNBP4', 'score': 9.26}, {'connected_gene': 'RN7SL652P', 'score': 0.37}, {'connected_gene': 'ENSG00000270072', 'score': 0.34}, {'connected_gene': 'GC11P047482', 'score': 0.22}]
chr11	GH11I047572	47571401	47571600	0.31	[{'connected_gene': 'CELF1', 'score': 0.44}, {'connected_gene': 'PTPMT1', 'score': 0.44}, {'connected_gene': 'RNU5E-10P', 'score': 0.44}, {'connected_gene': 'NDUFS3', 'score': 0.44}, {'connected_gene': 'GC11M055376', 'score': 0.37}]
chr11	GH11I047521	47521801	47526630	1.79	[{'connected_gene': 'CELF1', 'score': 562.58}, {'connected_gene': 'C1QTNF4', 'score': 43.13}, {'connected_gene': 'PTPMT1', 'score': 12.58}, {'connected_gene': 'NDUFS3', 'score': 12.58}, {'connected_gene': 'FAM180B', 'score': 10.78}, {'connected_gene': 'ENSG00000231880', 'score': 10.74}, {'connected_gene': 'RNU5E-10P', 'score': 10.74}, {'connected_gene': 'C11orf49', 'score': 4.71}, {'connected_gene': 'ENSG00000270072', 'score': 0.44}, {'connected_gene': 'RN7SL652P', 'score': 0.29}, {'connected_gene': 'GC11P047482', 'score': 0.26}]
chr1	GH01I159803	159803878	159805343	0.46	[{'connected_gene': 'LOC105371464', 'score': 550.77}, {'connected_gene': 'SLAMF8', 'score': 11.92}, {'connected_gene': 'ENSG00000212161', 'score': 10.86}, {'connected_gene': 'SNHG28', 'score': 10.73}, {'connected_gene': 'VSIG8', 'score': 10.72}, {'connected_gene': 'DUSP23', 'score': 10.7}, {'connected_gene': 'IGSF9', 'score': 10.23}, {'connected_gene': 'FCRL6', 'score': 0.77}]
chr11	GH11I047571	47571933	47573106	0.82	[{'connected_gene': 'RNU5E-10P', 'score': 0.77}, {'connected_gene': 'CELF1', 'score': 0.44}, {'connected_gene': 'PTPMT1', 'score': 0.44}, {'connected_gene': 'KBTBD4', 'score': 0.44}, {'connected_gene': 'NDUFS3', 'score': 0.44}, {'connected_gene': 'GC11M055376', 'score': 0.37}]
chr1	GH01I159959	159959061	159959919	0.59	[{'connected_gene': 'LINC01133', 'score': 550.77}, {'connected_gene': 'ENSG00000212161', 'score': 10.13}, {'connected_gene': 'ENSG00000225279', 'score': 10.08}, {'connected_gene': 'DUSP23', 'score': 9.61}, {'connected_gene': 'FCRL6', 'score': 9.41}, {'connected_gene': 'SLAMF9', 'score': 0.44}]
chr1	GH01I159960	159960362	159962678	0.58	[{'connected_gene': 'LINC01133', 'score': 560.0}, {'connected_gene': 'ENSG00000212161', 'score': 10.13}, {'connected_gene': 'ENSG00000225279', 'score': 10.08}, {'connected_gene': 'DUSP23', 'score': 9.61}, {'connected_gene': 'FCRL6', 'score': 9.4}, {'connected_gene': 'FCRL6P1', 'score': 0.39}]
chr1	GH01I159888	159888967	159891999	1.66	[{'connected_gene': 'ENSG00000272668', 'score': 34.46}, {'connected_gene': 'SLAMF8', 'score': 17.04}, {'connected_gene': 'SNHG28', 'score': 16.35}, {'connected_gene': 'FCRL6', 'score': 12.13}, {'connected_gene': 'VSIG8', 'score': 11.62}, {'connected_gene': 'ENSG00000212161', 'score': 11.59}, {'connected_gene': 'IGSF9', 'score': 10.93}, {'connected_gene': 'DUSP23', 'score': 10.84}, {'connected_gene': 'PIGM', 'score': 9.57}, {'connected_gene': 'SLAMF9', 'score': 5.85}, {'connected_gene': 'TAGLN2', 'score': 2.78}, {'connected_gene': 'COPA', 'score': 1.22}, {'connected_gene': 'MIR4259', 'score': 0.44}, {'connected_gene': 'CFAP45', 'score': 0.44}, {'connected_gene': 'ENSG00000256029', 'score': 0.37}, {'connected_gene': 'GC01M159886', 'score': 0.31}]
chr11	GH11I047506	47506363	47520799	1.69	[{'connected_gene': 'ENSG00000270072', 'score': 550.77}, {'connected_gene': 'NUP160', 'score': 136.21}, {'connected_gene': 'FNBP4', 'score': 131.13}, {'connected_gene': 'ENSG00000200090', 'score': 121.72}, {'connected_gene': 'ENSG00000270060', 'score': 63.55}, {'connected_gene': 'C1QTNF4', 'score': 43.68}, {'connected_gene': 'ZNF408', 'score': 41.66}, {'connected_gene': 'DDB2', 'score': 41.31}, {'connected_gene': 'AMBRA1', 'score': 38.83}, {'connected_gene': 'CELF1', 'score': 32.97}, {'connected_gene': 'SLC39A13', 'score': 30.17}, {'connected_gene': 'AGBL2', 'score': 20.91}, {'connected_gene': 'ARFGAP2', 'score': 18.43}, {'connected_gene': 'PTPMT1', 'score': 12.17}, {'connected_gene': 'NDUFS3', 'score': 12.17}, {'connected_gene': 'ARHGAP1', 'score': 12.06}, {'connected_gene': 'FAM180B', 'score': 11.72}, {'connected_gene': 'KBTBD4', 'score': 11.43}, {'connected_gene': 'ENSG00000231880', 'score': 11.18}, {'connected_gene': 'RNU5E-10P', 'score': 11.18}, {'connected_gene': 'MTCH2', 'score': 10.4}, {'connected_gene': 'LRP4-AS1', 'score': 9.75}, {'connected_gene': 'PTPRJ', 'score': 7.95}, {'connected_gene': 'PSMC3', 'score': 6.61}, {'connected_gene': 'SPI1', 'score': 4.72}, {'connected_gene': 'GC11P047482', 'score': 0.29}]