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
ENST00000283233	[[159027592, 159028771], [159033032, 159033173], [159035390, 159035508], [159077106, 159077225], [159107283, 159107424], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159201726, 159201830], [159214960, 159215082], [159312926, 159313265]]	[[159028624, 159028771], [159033032, 159033173], [159035390, 159035508], [159077106, 159077225], [159107283, 159107424], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159201726, 159201830], [159214960, 159215082], [159312926, 159312951]]
ENST00000454257	[[159027868, 159028771], [159033032, 159033173], [159035390, 159035508], [159077106, 159077225], [159107283, 159107424], [159165944, 159166151], [159170267, 159170406], [159214960, 159215082], [159312926, 159313111]]	[[159170388, 159170406], [159214960, 159215082], [159312926, 159312951]]
ENST00000409187	[[159028055, 159028771], [159033032, 159033173], [159035390, 159035508], [159077106, 159077225], [159107283, 159107424], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159201726, 159201830], [159214960, 159215082], [159222525, 159222588], [159237332, 159237472]]	[[159028624, 159028771], [159033032, 159033173], [159035390, 159035508], [159077106, 159077225], [159107283, 159107424], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159201726, 159201830], [159214960, 159215082], [159222525, 159222577]]
ENST00000448656	[[159028485, 159028771], [159033032, 159033173], [159035390, 159035508], [159077106, 159077225], [159107283, 159107424], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159197109, 159197192], [159214960, 159215082], [159312926, 159313078]]	[[159197186, 159197192], [159214960, 159215082], [159312926, 159312951]]
ENST00000417066	[[159145099, 159145348], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159312926, 159313265]]	[[159197169, 159197192], [159312926, 159312951]]
ENST00000536771	[[159145099, 159145348], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159312926, 159313265]]	[[159145300, 159145348], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197185]]
ENST00000451554	[[159145134, 159145348], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159201726, 159201830], [159312926, 159313220]]	[[159201732, 159201830], [159312926, 159312951]]
ENST00000409889	[[159195104, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159201726, 159201830], [159214960, 159215082], [159312926, 159313214]]	[[159195233, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159201726, 159201830], [159214960, 159215082], [159312926, 159312951]]
ENST00000491563	[[159222525, 159222588], [159249739, 159249822], [159312926, 159313238]]	None
NM_138803	[[159027868, 159028771], [159033032, 159033173], [159035390, 159035508], [159077106, 159077225], [159107283, 159107424], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159201726, 159201830], [159214960, 159215082], [159312926, 159313265]]	[[159028624, 159028771], [159033032, 159033173], [159035390, 159035508], [159077106, 159077225], [159107283, 159107424], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159201726, 159201830], [159214960, 159215082], [159312926, 159312951]]
NM_001301684	[[159027868, 159028771], [159033032, 159033173], [159035390, 159035508], [159077106, 159077225], [159107283, 159107424], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159197109, 159197192], [159214960, 159215082], [159312926, 159313265]]	[[159028624, 159028771], [159033032, 159033173], [159035390, 159035508], [159077106, 159077225], [159107283, 159107424], [159165944, 159166151], [159170267, 159170406], [159195237, 159195419], [159195501, 159195597], [159197109, 159197157]]
NM_001301685	[[159195104, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159201726, 159201830], [159214960, 159215082], [159312926, 159313265]]	[[159195233, 159195419], [159195501, 159195597], [159196753, 159196905], [159197109, 159197192], [159201726, 159201830], [159214960, 159215082], [159312926, 159312951]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I157782	157782200	157788521	1.38	[{'connected_gene': 'ACVR1', 'score': 12.14}, {'connected_gene': 'RNU6-932P', 'score': 11.26}, {'connected_gene': 'CCDC148', 'score': 4.99}, {'connected_gene': 'GC02M157769', 'score': 0.39}, {'connected_gene': 'GC02P157838', 'score': 0.23}]
chr2	GH02I159107	159107313	159110012	0.43	[{'connected_gene': 'TANC1', 'score': 8.5}, {'connected_gene': 'CCDC148', 'score': 4.72}, {'connected_gene': 'GSTM3P2', 'score': 0.23}, {'connected_gene': 'MIR6888', 'score': 0.18}]
chr2	GH02I158202	158202529	158202678	0.54	[{'connected_gene': 'PKP4', 'score': 6.6}, {'connected_gene': 'CCDC148-AS1', 'score': 0.28}, {'connected_gene': 'GC02P158160', 'score': 0.26}, {'connected_gene': 'HNRNPDLP2', 'score': 0.08}, {'connected_gene': 'CCDC148', 'score': 0.07}]
chr2	GH02I158456	158456249	158459823	2.08	[{'connected_gene': 'PKP4', 'score': 556.99}, {'connected_gene': 'CCDC148', 'score': 550.77}, {'connected_gene': 'OR7E28P', 'score': 7.17}, {'connected_gene': 'ENSG00000228586', 'score': 5.26}, {'connected_gene': 'RPL7AP22', 'score': 0.16}]
chr2	GH02I158586	158586191	158586839	0.77	[{'connected_gene': 'PKP4', 'score': 11.48}, {'connected_gene': 'CCDC148', 'score': 11.48}, {'connected_gene': 'RN7SL393P', 'score': 11.47}, {'connected_gene': 'ENSG00000231675', 'score': 4.77}, {'connected_gene': 'LOC105373715', 'score': 0.44}, {'connected_gene': 'GC02M158585', 'score': 0.44}]
chr2	GH02I158477	158477201	158477800	0.2	[{'connected_gene': 'PKP4', 'score': 18.4}, {'connected_gene': 'CCDC148', 'score': 12.33}, {'connected_gene': 'RN7SL393P', 'score': 12.28}, {'connected_gene': 'RPL7AP22', 'score': 0.19}]
chr2	GH02I158489	158489401	158489600	0.46	[{'connected_gene': 'PKP4', 'score': 11.83}, {'connected_gene': 'CCDC148', 'score': 11.83}, {'connected_gene': 'RN7SL393P', 'score': 11.8}, {'connected_gene': 'RPL7AP22', 'score': 0.22}]
chr2	GH02I158487	158487629	158487778	0.49	[{'connected_gene': 'PKP4', 'score': 11.79}, {'connected_gene': 'CCDC148', 'score': 11.79}, {'connected_gene': 'RN7SL393P', 'score': 11.76}, {'connected_gene': 'RPL7AP22', 'score': 0.21}]
chr2	GH02I158486	158486601	158486801	0.43	[{'connected_gene': 'PKP4', 'score': 11.81}, {'connected_gene': 'CCDC148', 'score': 11.81}, {'connected_gene': 'RN7SL393P', 'score': 11.77}, {'connected_gene': 'RPL7AP22', 'score': 0.21}]
chr2	GH02I158510	158510001	158510800	0.54	[{'connected_gene': 'PKP4', 'score': 17.75}, {'connected_gene': 'CCDC148', 'score': 15.5}, {'connected_gene': 'RN7SL393P', 'score': 11.31}, {'connected_gene': 'PKP4-AS1', 'score': 10.41}, {'connected_gene': 'OR7E28P', 'score': 4.26}, {'connected_gene': 'RPL7AP22', 'score': 0.28}]
chr2	GH02I158505	158505234	158506522	0.87	[{'connected_gene': 'PKP4', 'score': 11.35}, {'connected_gene': 'CCDC148', 'score': 11.35}, {'connected_gene': 'RN7SL393P', 'score': 11.32}, {'connected_gene': 'PKP4-AS1', 'score': 10.41}, {'connected_gene': 'ENSG00000228586', 'score': 5.76}, {'connected_gene': 'RPL7AP22', 'score': 0.26}]
chr2	GH02I158190	158190669	158192118	1.09	[{'connected_gene': 'CCDC148-AS1', 'score': 0.34}, {'connected_gene': 'GC02P158160', 'score': 0.29}, {'connected_gene': 'HNRNPDLP2', 'score': 0.07}, {'connected_gene': 'CCDC148', 'score': 0.06}]
chr2	GH02I158217	158217601	158218200	0.2	[{'connected_gene': 'CCDC148-AS1', 'score': 7.03}, {'connected_gene': 'GC02P158160', 'score': 0.22}, {'connected_gene': 'HNRNPDLP2', 'score': 0.08}, {'connected_gene': 'CCDC148', 'score': 0.07}]
chr2	GH02I158189	158189629	158189778	0.88	[{'connected_gene': 'CCDC148-AS1', 'score': 0.34}, {'connected_gene': 'GC02P158160', 'score': 0.31}, {'connected_gene': 'HNRNPDLP2', 'score': 0.07}, {'connected_gene': 'CCDC148', 'score': 0.06}]
chr2	GH02I159122	159122943	159126511	1.33	[{'connected_gene': 'WDSUB1', 'score': 17.78}, {'connected_gene': 'TANC1', 'score': 16.5}, {'connected_gene': 'BAZ2B', 'score': 11.12}, {'connected_gene': 'RNU2-21P', 'score': 10.77}, {'connected_gene': 'CCDC148', 'score': 5.34}, {'connected_gene': 'MIR6888', 'score': 0.21}, {'connected_gene': 'GSTM3P2', 'score': 0.2}]
chr2	GH02I158618	158618713	158620000	0.95	[{'connected_gene': 'CCDC148', 'score': 4.44}, {'connected_gene': 'GC02M158585', 'score': 0.31}, {'connected_gene': 'ENSG00000228586', 'score': 0.2}, {'connected_gene': 'PKP4', 'score': 0.1}]
chr2	GH02I159117	159117877	159120403	1.26	[{'connected_gene': 'CCDC148', 'score': 5.45}, {'connected_gene': 'OR7E28P', 'score': 4.19}, {'connected_gene': 'GSTM3P2', 'score': 0.21}, {'connected_gene': 'MIR6888', 'score': 0.2}, {'connected_gene': 'TANC1', 'score': 0.1}]
chr2	GH02I158413	158413073	158415414	0.53	[{'connected_gene': 'CCDC148', 'score': 5.33}, {'connected_gene': 'UPP2', 'score': 2.47}, {'connected_gene': 'HNRNPDLP2', 'score': 0.44}, {'connected_gene': 'CCDC148-AS1', 'score': 0.07}]
chr2	GH02I159337	159337356	159337565	0.4	[{'connected_gene': 'CCDC148', 'score': 4.56}, {'connected_gene': 'ENSG00000223642', 'score': 0.25}, {'connected_gene': 'WDSUB1', 'score': 0.23}, {'connected_gene': 'BAZ2B', 'score': 0.05}]
chr2	GH02I158213	158213795	158215226	1.1	[{'connected_gene': 'RN7SL393P', 'score': 11.6}, {'connected_gene': 'PKP4', 'score': 11.59}, {'connected_gene': 'CCDC148', 'score': 11.59}, {'connected_gene': 'CCDC148-AS1', 'score': 8.53}, {'connected_gene': 'GC02P158160', 'score': 0.23}, {'connected_gene': 'HNRNPDLP2', 'score': 0.08}]
chr2	GH02I158185	158185049	158185298	0.88	[{'connected_gene': 'RN7SL393P', 'score': 11.34}, {'connected_gene': 'PKP4', 'score': 11.33}, {'connected_gene': 'CCDC148', 'score': 11.33}, {'connected_gene': 'CCDC148-AS1', 'score': 0.37}, {'connected_gene': 'GC02P158160', 'score': 0.34}, {'connected_gene': 'HNRNPDLP2', 'score': 0.07}]
chr2	GH02I158042	158042801	158043000	0.2	[{'connected_gene': 'PKP4-AS1', 'score': 10.6}, {'connected_gene': 'RN7SL393P', 'score': 10.43}, {'connected_gene': 'CCDC148', 'score': 10.43}, {'connected_gene': 'PKP4', 'score': 10.43}, {'connected_gene': 'PTP4A1P1', 'score': 0.34}, {'connected_gene': 'RNU6-932P', 'score': 0.22}, {'connected_gene': 'GC02M157986', 'score': 0.22}, {'connected_gene': 'UPP2', 'score': 0.1}]
chr2	GH02I158411	158411768	158412542	0.31	[{'connected_gene': 'HNRNPDLP2', 'score': 0.44}, {'connected_gene': 'CCDC148', 'score': 0.26}, {'connected_gene': 'CCDC148-AS1', 'score': 0.07}]
chr2	GH02I158321	158321186	158321899	0.85	[{'connected_gene': 'HNRNPDLP2', 'score': 0.15}, {'connected_gene': 'CCDC148', 'score': 0.12}, {'connected_gene': 'CCDC148-AS1', 'score': 0.1}]