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
ENST00000358432	[[16450831, 16451815], [16455928, 16456084], [16456720, 16456914], [16458215, 16458365], [16458558, 16458768], [16458872, 16458934], [16459674, 16459863], [16459975, 16460101], [16460354, 16460410], [16460962, 16461062], [16461530, 16461684], [16462149, 16462265], [16464347, 16464680], [16464769, 16464925], [16474872, 16475542], [16477390, 16477458], [16482342, 16482582]]	[[16451709, 16451815], [16455928, 16456084], [16456720, 16456914], [16458215, 16458365], [16458558, 16458768], [16458872, 16458934], [16459674, 16459863], [16459975, 16460101], [16460354, 16460410], [16460962, 16461062], [16461530, 16461684], [16462149, 16462265], [16464347, 16464680], [16464769, 16464925], [16474872, 16475542], [16477390, 16477458], [16482342, 16482427]]
ENST00000462805	[[16459507, 16459863], [16459975, 16460057]]	None
ENST00000480202	[[16461054, 16461062], [16461530, 16461684], [16462149, 16462265], [16464347, 16464680], [16464769, 16464925], [16472917, 16472945]]	None
ENST00000461614	[[16474872, 16475542], [16482342, 16482547]]	None
NM_004431	[[16450831, 16451815], [16455928, 16456084], [16456720, 16456914], [16458215, 16458365], [16458558, 16458768], [16458872, 16458934], [16459674, 16459863], [16459975, 16460101], [16460354, 16460410], [16460962, 16461062], [16461530, 16461684], [16462149, 16462265], [16464347, 16464680], [16464769, 16464925], [16474872, 16475542], [16477390, 16477458], [16482342, 16482604]]	[[16451709, 16451815], [16455928, 16456084], [16456720, 16456914], [16458215, 16458365], [16458558, 16458768], [16458872, 16458934], [16459674, 16459863], [16459975, 16460101], [16460354, 16460410], [16460962, 16461062], [16461530, 16461684], [16462149, 16462265], [16464347, 16464680], [16464769, 16464925], [16474872, 16475542], [16477390, 16477458], [16482342, 16482427]]
NM_001329090	[[16450831, 16451815], [16455928, 16456084], [16456720, 16456914], [16458215, 16458365], [16458558, 16458768], [16458872, 16458934], [16459674, 16459863], [16459975, 16460101], [16460354, 16460410], [16460962, 16461062], [16461530, 16461684], [16462149, 16462265], [16464347, 16464680], [16464769, 16464925], [16474872, 16475542], [16482342, 16482604]]	[[16451709, 16451815], [16455928, 16456084], [16456720, 16456914], [16458215, 16458365], [16458558, 16458768], [16458872, 16458934], [16459674, 16459863], [16459975, 16460101], [16460354, 16460410], [16460962, 16461062], [16461530, 16461684], [16462149, 16462265], [16464347, 16464680], [16464769, 16464925], [16474872, 16475533]]

Promoter

Chrom	Start	End	Description
chr1	16482507	16482514	CAGE_peak_3_at_EPHA2_5end
chr1	16482527	16482546	CAGE_peak_2_at_EPHA2_5end
chr1	16482554	16482576	CAGE_peak_1_at_EPHA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I016623	16623064	16624697	1.03	[{'connected_gene': 'CROCC', 'score': 34.02}, {'connected_gene': 'SPEN', 'score': 28.54}, {'connected_gene': 'EPHA2', 'score': 18.06}, {'connected_gene': 'ENSG00000227959', 'score': 11.84}, {'connected_gene': 'ENSG00000224621', 'score': 10.19}, {'connected_gene': 'ARHGEF19', 'score': 10.09}, {'connected_gene': 'MFAP2', 'score': 9.76}, {'connected_gene': 'PIR33417', 'score': 0.77}, {'connected_gene': 'PIR45232', 'score': 0.44}, {'connected_gene': 'CROCCP2', 'score': 0.29}]
chr1	GH01I016161	16161594	16166148	1.46	[{'connected_gene': 'CROCC', 'score': 13.98}, {'connected_gene': 'CROCCP3', 'score': 13.53}, {'connected_gene': 'ARHGEF19-AS1', 'score': 12.44}, {'connected_gene': 'FAM131C', 'score': 11.74}, {'connected_gene': 'ARHGEF19', 'score': 11.37}, {'connected_gene': 'ENSG00000235241', 'score': 11.34}, {'connected_gene': 'EPHA2', 'score': 11.17}, {'connected_gene': 'LINC01772', 'score': 11.11}, {'connected_gene': 'NBPF1', 'score': 10.56}, {'connected_gene': 'ZBTB17', 'score': 10.3}, {'connected_gene': 'SPEN', 'score': 9.68}, {'connected_gene': 'ENSG00000224621', 'score': 0.77}, {'connected_gene': 'LOC101927479', 'score': 0.44}, {'connected_gene': 'GC01P016173', 'score': 0.44}]
chr1	GH01I015755	15755665	15762097	2.6	[{'connected_gene': 'FBLIM1', 'score': 562.81}, {'connected_gene': 'CROCC', 'score': 15.17}, {'connected_gene': 'CROCCP2', 'score': 12.55}, {'connected_gene': 'SLC25A34', 'score': 10.99}, {'connected_gene': 'CROCCP3', 'score': 10.03}, {'connected_gene': 'SPEN', 'score': 9.91}, {'connected_gene': 'PLEKHM2', 'score': 5.21}, {'connected_gene': 'CASP9', 'score': 5.09}, {'connected_gene': 'EPHA2', 'score': 1.63}, {'connected_gene': 'RPL12P14', 'score': 0.29}]
chr1	GH01I016142	16142929	16160392	2.8	[{'connected_gene': 'EPHA2', 'score': 561.77}, {'connected_gene': 'SPEN', 'score': 34.61}, {'connected_gene': 'CROCC', 'score': 34.21}, {'connected_gene': 'ENSG00000237938', 'score': 27.26}, {'connected_gene': 'ZBTB17', 'score': 11.74}, {'connected_gene': 'TMEM51-AS1', 'score': 11.22}, {'connected_gene': 'FBXO42', 'score': 10.85}, {'connected_gene': 'RPL22P3', 'score': 10.14}, {'connected_gene': 'ARHGEF19', 'score': 6.31}, {'connected_gene': 'FBLIM1', 'score': 4.76}, {'connected_gene': 'FAM131C', 'score': 4.54}, {'connected_gene': 'LOC101927479', 'score': 0.77}, {'connected_gene': 'ENSG00000227959', 'score': 0.77}, {'connected_gene': 'ENSG00000224621', 'score': 0.44}, {'connected_gene': 'GC01P016103', 'score': 0.25}]
chr1	GH01I016117	16117450	16118279	0.2	[{'connected_gene': 'EPHA2', 'score': 6.12}, {'connected_gene': 'CLCNKA', 'score': 5.14}, {'connected_gene': 'GC01P016103', 'score': 0.39}, {'connected_gene': 'LOC101927479', 'score': 0.28}]
chr1	GH01I016171	16171446	16185389	1.76	[{'connected_gene': 'ARHGEF19', 'score': 25.27}, {'connected_gene': 'TRE-TTC3-1', 'score': 16.28}, {'connected_gene': 'NECAP2', 'score': 15.02}, {'connected_gene': 'EPHA2', 'score': 14.06}, {'connected_gene': 'FAM131C', 'score': 12.35}, {'connected_gene': 'CROCCP3', 'score': 10.38}, {'connected_gene': 'LINC01772', 'score': 10.1}, {'connected_gene': 'ZBTB17', 'score': 10.04}, {'connected_gene': 'ENSG00000237301', 'score': 9.95}, {'connected_gene': 'RSG1', 'score': 9.84}, {'connected_gene': 'NBPF1', 'score': 9.77}, {'connected_gene': 'LINC01783', 'score': 5.34}, {'connected_gene': 'FBLIM1', 'score': 4.1}, {'connected_gene': 'SRARP', 'score': 1.94}, {'connected_gene': 'SPEN', 'score': 1.29}, {'connected_gene': 'GC01P016173', 'score': 0.44}, {'connected_gene': 'ARHGEF19-AS1', 'score': 0.37}]
chr1	GH01I016131	16131453	16136428	0.72	[{'connected_gene': 'ARHGEF19', 'score': 17.12}, {'connected_gene': 'ENSG00000224621', 'score': 12.71}, {'connected_gene': 'FAM131C', 'score': 11.82}, {'connected_gene': 'ARHGEF19-AS1', 'score': 11.33}, {'connected_gene': 'LOC101927479', 'score': 0.34}, {'connected_gene': 'EPHA2', 'score': 0.34}, {'connected_gene': 'GC01P016103', 'score': 0.29}]
chr1	GH01I016166	16166212	16166860	0.64	[{'connected_gene': 'ARHGEF19', 'score': 17.92}, {'connected_gene': 'ARHGEF19-AS1', 'score': 12.44}, {'connected_gene': 'FAM131C', 'score': 11.74}, {'connected_gene': 'EPHA2', 'score': 6.19}, {'connected_gene': 'LOC440568', 'score': 6.12}, {'connected_gene': 'GC01P016173', 'score': 0.44}, {'connected_gene': 'ENSG00000224621', 'score': 0.44}, {'connected_gene': 'LOC101927479', 'score': 0.39}]
chr1	GH01I015791	15791870	15803135	1.78	[{'connected_gene': 'CLCNKA', 'score': 25.62}, {'connected_gene': 'HSPB7', 'score': 23.43}, {'connected_gene': 'FBLIM1', 'score': 20.47}, {'connected_gene': 'ENSG00000237938', 'score': 18.41}, {'connected_gene': 'RPS16P1', 'score': 18.13}, {'connected_gene': 'SPEN', 'score': 12.87}, {'connected_gene': 'ZBTB17', 'score': 12.28}, {'connected_gene': 'ENSG00000233078', 'score': 11.58}, {'connected_gene': 'FAM131C', 'score': 10.96}, {'connected_gene': 'ARHGEF19-AS1', 'score': 10.34}, {'connected_gene': 'ARHGEF19', 'score': 10.06}, {'connected_gene': 'FBXO42', 'score': 9.86}, {'connected_gene': 'FLJ37453', 'score': 6.71}, {'connected_gene': 'SRARP', 'score': 6.23}, {'connected_gene': 'CROCCP2', 'score': 4.9}, {'connected_gene': 'SLC25A34', 'score': 4.76}, {'connected_gene': 'ENSG00000236045', 'score': 4.48}, {'connected_gene': 'DDI2', 'score': 4.45}, {'connected_gene': 'EPHA2', 'score': 2.14}, {'connected_gene': 'RPL12P14', 'score': 0.77}, {'connected_gene': 'GC01M015799', 'score': 0.44}]
chr1	GH01I016137	16137757	16142626	1.32	[{'connected_gene': 'CROCCP3', 'score': 23.01}, {'connected_gene': 'LINC01772', 'score': 18.83}, {'connected_gene': 'FAM131C', 'score': 16.6}, {'connected_gene': 'SPEN', 'score': 16.36}, {'connected_gene': 'RPL22P3', 'score': 14.56}, {'connected_gene': 'ENSG00000237938', 'score': 11.78}, {'connected_gene': 'CROCC', 'score': 11.6}, {'connected_gene': 'RPS16P1', 'score': 11.17}, {'connected_gene': 'MFAP2', 'score': 11.02}, {'connected_gene': 'NBPF1', 'score': 10.79}, {'connected_gene': 'FBXO42', 'score': 9.77}, {'connected_gene': 'EPHA2', 'score': 7.07}, {'connected_gene': 'LOC101927479', 'score': 0.39}, {'connected_gene': 'GC01P016103', 'score': 0.28}]
chr1	GH01I016420	16420406	16422085	0.87	[{'connected_gene': 'LINC01772', 'score': 6.96}, {'connected_gene': 'EPHA2', 'score': 4.94}, {'connected_gene': 'MT1XP1', 'score': 4.56}, {'connected_gene': 'SPATA21', 'score': 0.37}, {'connected_gene': 'PIR56124', 'score': 0.34}]
chr1	GH01I016125	16125473	16129873	0.74	[{'connected_gene': 'ENSG00000224621', 'score': 12.69}, {'connected_gene': 'FAM131C', 'score': 11.84}, {'connected_gene': 'ARHGEF19-AS1', 'score': 11.38}, {'connected_gene': 'ARHGEF19', 'score': 10.47}, {'connected_gene': 'CLCNKB', 'score': 5.71}, {'connected_gene': 'RSG1', 'score': 5.17}, {'connected_gene': 'LOC105376805', 'score': 4.58}, {'connected_gene': 'GC01P016103', 'score': 0.34}, {'connected_gene': 'LOC101927479', 'score': 0.31}, {'connected_gene': 'EPHA2', 'score': 0.31}]
chr1	GH01I016703	16703246	16703415	1.22	[{'connected_gene': 'ENSG00000279151', 'score': 550.77}, {'connected_gene': 'ENSG00000237938', 'score': 43.13}, {'connected_gene': 'ARHGEF19', 'score': 40.49}, {'connected_gene': 'RPL22P3', 'score': 31.08}, {'connected_gene': 'MFAP2', 'score': 30.2}, {'connected_gene': 'RPS16P1', 'score': 30.14}, {'connected_gene': 'ENSG00000224621', 'score': 28.15}, {'connected_gene': 'SPEN', 'score': 21.94}, {'connected_gene': 'ZBTB17', 'score': 19.55}, {'connected_gene': 'EIF1AXP1', 'score': 18.47}, {'connected_gene': 'EPHA2', 'score': 18.05}, {'connected_gene': 'SZRD1', 'score': 12.53}, {'connected_gene': 'FBLIM1', 'score': 12.32}, {'connected_gene': 'ENSG00000227959', 'score': 11.83}, {'connected_gene': 'CROCC', 'score': 11.13}, {'connected_gene': 'NECAP2', 'score': 10.51}, {'connected_gene': 'CROCCP3', 'score': 10.41}, {'connected_gene': 'LINC01772', 'score': 10.1}, {'connected_gene': 'ENSG00000226526', 'score': 9.84}, {'connected_gene': 'ESPNP', 'score': 0.37}]