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

Promoter

Chrom	Start	End	Description
chr19	45873807	45873855	CAGE_peak_1_at_ERCC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I046210	46210555	46212805	1.24	[{'connected_gene': 'LOC93429', 'score': 14.4}, {'connected_gene': 'ZC3H4', 'score': 12.94}, {'connected_gene': 'ENSG00000269124', 'score': 12.59}, {'connected_gene': 'ERCC2', 'score': 10.59}, {'connected_gene': 'ENSG00000268810', 'score': 10.38}, {'connected_gene': 'CCDC61', 'score': 10.09}, {'connected_gene': 'PPP5C', 'score': 10.08}, {'connected_gene': 'IGFL2-AS1', 'score': 7.73}, {'connected_gene': 'RPL12P41', 'score': 5.97}]
chr19	GH19I045341	45341392	45341578	0.84	[{'connected_gene': 'ZNF180', 'score': 60.8}, {'connected_gene': 'CCDC61', 'score': 28.54}, {'connected_gene': 'CLASRP', 'score': 27.35}, {'connected_gene': 'ENSG00000269148', 'score': 25.8}, {'connected_gene': 'FBXO46', 'score': 22.86}, {'connected_gene': 'ZNF112', 'score': 21.87}, {'connected_gene': 'ERCC2', 'score': 10.87}, {'connected_gene': 'ERCC1', 'score': 9.97}, {'connected_gene': 'ENSG00000267114', 'score': 9.94}, {'connected_gene': 'KLC3', 'score': 6.31}, {'connected_gene': 'PPP1R13L', 'score': 1.28}, {'connected_gene': 'GC19P045339', 'score': 0.77}, {'connected_gene': 'GC19M045351', 'score': 0.39}]
chr19	GH19I045250	45250689	45253580	2.22	[{'connected_gene': 'MARK4', 'score': 570.57}, {'connected_gene': 'ZNF235', 'score': 30.24}, {'connected_gene': 'MRPS15P2', 'score': 17.63}, {'connected_gene': 'ZNF180', 'score': 17.32}, {'connected_gene': 'ZNF285', 'score': 14.85}, {'connected_gene': 'IRF2BP1', 'score': 12.94}, {'connected_gene': 'ZNF112', 'score': 12.57}, {'connected_gene': 'ERCC2', 'score': 10.69}, {'connected_gene': 'ENSG00000267114', 'score': 10.25}, {'connected_gene': 'RELB', 'score': 9.95}, {'connected_gene': 'NOVA2', 'score': 9.82}, {'connected_gene': 'VASP', 'score': 2.97}, {'connected_gene': 'CLASRP', 'score': 1.63}, {'connected_gene': 'EXOC3L2', 'score': 0.44}, {'connected_gene': 'GC19M045307', 'score': 0.22}]
chr19	GH19I045326	45326001	45326805	1.33	[{'connected_gene': 'IRF2BP1', 'score': 14.21}, {'connected_gene': 'ZNF180', 'score': 14.19}, {'connected_gene': 'ZNF112', 'score': 13.48}, {'connected_gene': 'CEACAM19', 'score': 12.21}, {'connected_gene': 'ZNF285', 'score': 10.86}, {'connected_gene': 'SNRPD2', 'score': 10.82}, {'connected_gene': 'ENSG00000267114', 'score': 10.67}, {'connected_gene': 'CCDC61', 'score': 9.66}, {'connected_gene': 'ERCC2', 'score': 8.68}, {'connected_gene': 'CKM', 'score': 0.77}, {'connected_gene': 'RPS16P9', 'score': 0.44}]
chr19	GH19I045369	45369600	45371639	1.95	[{'connected_gene': 'ERCC2', 'score': 558.15}, {'connected_gene': 'CCDC61', 'score': 13.37}, {'connected_gene': 'ENSG00000267114', 'score': 11.57}, {'connected_gene': 'IRF2BP1', 'score': 11.02}, {'connected_gene': 'SYMPK', 'score': 10.34}, {'connected_gene': 'ZNF180', 'score': 10.05}, {'connected_gene': 'PIR45955', 'score': 0.44}]
chr19	GH19I045375	45375692	45377652	0.99	[{'connected_gene': 'ERCC2', 'score': 7.37}, {'connected_gene': 'KLC3', 'score': 7.28}, {'connected_gene': 'CD3EAP', 'score': 5.68}, {'connected_gene': 'ERCC1', 'score': 5.02}]
chr19	GH19I045385	45385523	45385672	0.43	[{'connected_gene': 'ERCC2', 'score': 0.39}, {'connected_gene': 'CD3EAP', 'score': 0.34}, {'connected_gene': 'PPP1R13L', 'score': 0.34}]
chr19	GH19I045477	45477087	45479512	2.07	[{'connected_gene': 'ERCC1', 'score': 557.05}, {'connected_gene': 'PIR58452', 'score': 550.77}, {'connected_gene': 'TRU-TCA1-1', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 37.3}, {'connected_gene': 'CCDC61', 'score': 20.48}, {'connected_gene': 'CD3EAP', 'score': 19.25}, {'connected_gene': 'IRF2BP1', 'score': 14.26}, {'connected_gene': 'CLASRP', 'score': 13.84}, {'connected_gene': 'PPP1R37', 'score': 13.8}, {'connected_gene': 'ENSG00000268810', 'score': 12.93}, {'connected_gene': 'PPM1N', 'score': 12.68}, {'connected_gene': 'CEACAM19', 'score': 12.22}, {'connected_gene': 'VASP', 'score': 11.92}, {'connected_gene': 'PPP1R13L', 'score': 11.7}, {'connected_gene': 'EML2', 'score': 10.98}, {'connected_gene': 'SNRPD2', 'score': 10.84}, {'connected_gene': 'ERCC2', 'score': 10.51}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'MIR330', 'score': 10.06}, {'connected_gene': 'FOSB', 'score': 3.47}, {'connected_gene': 'RELB', 'score': 2.62}, {'connected_gene': 'GIPR', 'score': 2.57}, {'connected_gene': 'TRAPPC6A', 'score': 1.33}, {'connected_gene': 'FBXO46', 'score': 1.24}, {'connected_gene': 'GC19P045474', 'score': 0.77}]
chr19	GH19I045231	45231493	45232674	0.2	[{'connected_gene': 'CKM', 'score': 11.12}, {'connected_gene': 'ERCC2', 'score': 10.69}, {'connected_gene': 'CD3EAP', 'score': 10.31}, {'connected_gene': 'PPP1R13L', 'score': 10.31}, {'connected_gene': 'RELB', 'score': 10.23}, {'connected_gene': 'CLASRP', 'score': 10.07}, {'connected_gene': 'LOC100420902', 'score': 0.77}, {'connected_gene': 'GC19M045193', 'score': 0.39}, {'connected_gene': 'EXOC3L2', 'score': 0.39}, {'connected_gene': 'GC19M045188', 'score': 0.26}, {'connected_gene': 'MARK4', 'score': 0.1}]
chr19	GH19I045320	45320298	45324998	1.88	[{'connected_gene': 'CKM', 'score': 560.87}, {'connected_gene': 'KLC3', 'score': 9.39}, {'connected_gene': 'MARK4', 'score': 9.32}, {'connected_gene': 'ERCC2', 'score': 8.82}, {'connected_gene': 'DMPK', 'score': 7.88}, {'connected_gene': 'RTN2', 'score': 5.53}, {'connected_gene': 'PPM1N', 'score': 4.81}, {'connected_gene': 'CD3EAP', 'score': 4.68}, {'connected_gene': 'GC19M045307', 'score': 0.39}]
chr19	GH19I045401	45401488	45407656	2.56	[{'connected_gene': 'CD3EAP', 'score': 580.45}, {'connected_gene': 'PPP1R13L', 'score': 554.58}, {'connected_gene': 'CCDC61', 'score': 79.13}, {'connected_gene': 'ZNF180', 'score': 71.0}, {'connected_gene': 'CLASRP', 'score': 61.45}, {'connected_gene': 'FBXO46', 'score': 58.33}, {'connected_gene': 'ENSG00000269148', 'score': 58.06}, {'connected_gene': 'IRF2BP1', 'score': 21.26}, {'connected_gene': 'ERCC1', 'score': 20.6}, {'connected_gene': 'ENSG00000268810', 'score': 20.45}, {'connected_gene': 'EML2', 'score': 12.8}, {'connected_gene': 'SYMPK', 'score': 12.03}, {'connected_gene': 'PPM1N', 'score': 11.98}, {'connected_gene': 'RTN2', 'score': 11.96}, {'connected_gene': 'VASP', 'score': 11.69}, {'connected_gene': 'ERCC2', 'score': 11.67}, {'connected_gene': 'DMWD', 'score': 11.34}, {'connected_gene': 'QPCTL', 'score': 11.32}, {'connected_gene': 'MIR330', 'score': 10.49}, {'connected_gene': 'ENSG00000259605', 'score': 10.33}, {'connected_gene': 'ENSG00000267114', 'score': 10.24}, {'connected_gene': 'APOE', 'score': 4.71}, {'connected_gene': 'KLC3', 'score': 4.5}]
chr19	GH19I045400	45400363	45400512	0.58	[{'connected_gene': 'CD3EAP', 'score': 14.89}, {'connected_gene': 'PPP1R13L', 'score': 0.44}, {'connected_gene': 'ERCC2', 'score': 0.31}]
chr19	GH19I045395	45395803	45395972	0.59	[{'connected_gene': 'CD3EAP', 'score': 0.39}, {'connected_gene': 'PPP1R13L', 'score': 0.39}, {'connected_gene': 'ERCC2', 'score': 0.34}]
chr19	GH19I045397	45397783	45399200	0.97	[{'connected_gene': 'CD3EAP', 'score': 0.44}, {'connected_gene': 'PPP1R13L', 'score': 0.44}, {'connected_gene': 'ERCC2', 'score': 0.31}]
chr19	GH19I045391	45391443	45391612	0.67	[{'connected_gene': 'CD3EAP', 'score': 0.39}, {'connected_gene': 'PPP1R13L', 'score': 0.39}, {'connected_gene': 'ERCC2', 'score': 0.34}]
chr19	GH19I046131	46131394	46135049	1.3	[{'connected_gene': 'GC19P046133', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 96.09}, {'connected_gene': 'CCDC61', 'score': 69.82}, {'connected_gene': 'LOC93429', 'score': 29.78}, {'connected_gene': 'ENSG00000269148', 'score': 28.91}, {'connected_gene': 'ENSG00000268810', 'score': 28.19}, {'connected_gene': 'FBXO46', 'score': 25.8}, {'connected_gene': 'IGFL3', 'score': 12.52}, {'connected_gene': 'SYMPK', 'score': 12.44}, {'connected_gene': 'SLC1A5', 'score': 12.01}, {'connected_gene': 'PPP5D1', 'score': 11.41}, {'connected_gene': 'IRF2BP1', 'score': 11.36}, {'connected_gene': 'SNRPD2', 'score': 10.21}, {'connected_gene': 'ERCC2', 'score': 10.14}, {'connected_gene': 'PRKD2', 'score': 10.04}, {'connected_gene': 'ERCC1', 'score': 9.89}, {'connected_gene': 'ENSG00000267922', 'score': 0.29}, {'connected_gene': 'IGFL2', 'score': 0.23}]
chr19	GH19I045472	45472201	45476847	1.12	[{'connected_gene': 'GC19P045474', 'score': 550.77}, {'connected_gene': 'CD3EAP', 'score': 12.02}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.95}, {'connected_gene': 'VASP', 'score': 11.9}, {'connected_gene': 'ERCC2', 'score': 11.05}, {'connected_gene': 'EML2', 'score': 10.97}, {'connected_gene': 'MIR330', 'score': 10.85}, {'connected_gene': 'ERCC1', 'score': 9.93}, {'connected_gene': 'PPM1N', 'score': 5.81}, {'connected_gene': 'OPA3', 'score': 4.96}, {'connected_gene': 'GC19P045469', 'score': 0.77}, {'connected_gene': 'FOSB', 'score': 0.44}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000391945	[[45853094, 45854979], [45855466, 45855610], [45855763, 45855907], [45856003, 45856074], [45856340, 45856413], [45856499, 45856592], [45857987, 45858109], [45858922, 45858986], [45860527, 45860629], [45860731, 45860801], [45860887, 45860957], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873490], [45873793, 45873876]]	[[45854886, 45854979], [45855466, 45855610], [45855763, 45855907], [45856003, 45856074], [45856340, 45856413], [45856499, 45856592], [45857987, 45858109], [45858922, 45858986], [45860527, 45860629], [45860731, 45860801], [45860887, 45860957], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873490], [45873793, 45873798]]
ENST00000588652	[[45854852, 45854979], [45855466, 45855610], [45855763, 45855907], [45856003, 45856074], [45856340, 45856413], [45856499, 45856592], [45857987, 45858109], [45858922, 45858986], [45860527, 45860629], [45860731, 45862196]]	None
ENST00000391942	[[45854852, 45854979], [45855466, 45855610], [45855763, 45855907], [45856003, 45856074], [45856340, 45856413], [45856499, 45856592], [45857987, 45858109], [45858922, 45858986], [45860527, 45860629], [45860731, 45860801], [45860887, 45860957], [45864781, 45865189]]	None
ENST00000391944	[[45854860, 45854979], [45855466, 45855610], [45855763, 45855907], [45856003, 45856074], [45856340, 45856413], [45856499, 45856592], [45857987, 45858109], [45858922, 45858986], [45860527, 45860629], [45860731, 45860801], [45860887, 45860957], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873490], [45873793, 45873826]]	[[45854886, 45854979], [45855466, 45855610], [45855763, 45855907], [45856003, 45856074], [45856340, 45856413], [45856499, 45856592], [45857987, 45858109], [45858922, 45858986], [45860527, 45860629], [45860731, 45860801], [45860887, 45860957], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873490], [45873793, 45873798]]
ENST00000391941	[[45855466, 45855610], [45855763, 45855907], [45856003, 45856074], [45856340, 45856413], [45856499, 45856592], [45857987, 45858109], [45858922, 45858986], [45860527, 45860629], [45860731, 45860801], [45860887, 45860957], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45874176]]	[[45855466, 45855610], [45855763, 45855907], [45856003, 45856074], [45856340, 45856413], [45856499, 45856592], [45857987, 45858109], [45858922, 45858986], [45860527, 45860629], [45860731, 45860801], [45860887, 45860957], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873423]]
ENST00000587376	[[45856499, 45856592], [45857987, 45858109], [45860527, 45860629], [45860731, 45860801], [45860887, 45860957], [45864781, 45864900], [45867000, 45867169], [45867243, 45867315]]	[[45858103, 45858109], [45860527, 45860629], [45860731, 45860801], [45860887, 45860957], [45864781, 45864900], [45867000, 45867169], [45867243, 45867315]]
ENST00000485403	[[45862016, 45862170], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873642]]	[[45862117, 45862170], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873423]]
ENST00000391940	[[45862117, 45862170], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873490], [45873793, 45873808]]	[[45862117, 45862170], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873423]]
ENST00000221481	[[45867032, 45867169], [45867243, 45867377], [45867492, 45867589], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873490], [45873793, 45873815]]	[[45867565, 45867589], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873490], [45873793, 45873798]]
ENST00000586131	[[45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873490], [45873728, 45873791]]	[[45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873423]]
ENST00000591309	[[45867294, 45867377], [45867492, 45867589], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873490], [45873793, 45873815]]	[[45867565, 45867589], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873490], [45873793, 45873798]]
ENST00000586737	[[45867348, 45867377], [45867492, 45867589], [45871887, 45872004], [45872187, 45872405], [45873793, 45873813]]	None
ENST00000586441	[[45867493, 45867589], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872405], [45873793, 45873813]]	None
ENST00000586856	[[45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45873390, 45873786]]	[[45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45873390, 45873423]]
NM_000400	[[45854648, 45854979], [45855466, 45855610], [45855763, 45855907], [45856003, 45856074], [45856340, 45856413], [45856499, 45856592], [45857987, 45858109], [45858922, 45858986], [45860527, 45860629], [45860731, 45860801], [45860887, 45860957], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873490], [45873793, 45873845]]	[[45854886, 45854979], [45855466, 45855610], [45855763, 45855907], [45856003, 45856074], [45856340, 45856413], [45856499, 45856592], [45857987, 45858109], [45858922, 45858986], [45860527, 45860629], [45860731, 45860801], [45860887, 45860957], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873490], [45873793, 45873798]]
NM_001130867	[[45862016, 45862170], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873845]]	[[45862117, 45862170], [45864781, 45864900], [45867000, 45867169], [45867243, 45867377], [45867492, 45867589], [45867681, 45867805], [45868095, 45868212], [45868299, 45868416], [45871887, 45872001], [45872187, 45872250], [45872327, 45872405], [45873390, 45873423]]