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
ENST00000546283	[[1383525, 1383607], [1383706, 1383941], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393544]]	[[1383925, 1383941], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393406]]
ENST00000233627	[[1383629, 1383941], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393329], [1395389, 1395583]]	[[1383925, 1383941], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393329], [1395389, 1395487]]
ENST00000545446	[[1383882, 1383941], [1387809, 1387846], [1388523, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1395583]]	None
ENST00000543289	[[1383888, 1384155], [1387809, 1387846], [1388523, 1388937], [1390869, 1391164], [1393240, 1395583]]	None
ENST00000538662	[[1383898, 1383941], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391164], [1393240, 1393876]]	None
ENST00000539480	[[1383898, 1383941], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393329], [1394416, 1394869]]	[[1383925, 1383941], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393329], [1394416, 1394421]]
ENST00000436115	[[1383902, 1383941], [1387809, 1387846], [1388523, 1388592], [1388831, 1391049], [1391117, 1391164], [1393240, 1393709]]	None
ENST00000313408	[[1383902, 1383941], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1395580]]	[[1383925, 1383941], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393406]]
ENST00000534853	[[1383905, 1383936], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393329], [1395389, 1395575]]	[[1383925, 1383936], [1387809, 1387846], [1388523, 1388592], [1388831, 1388915]]
ENST00000546172	[[1383916, 1383941], [1386516, 1386638], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393329], [1395389, 1395427]]	[[1383925, 1383941], [1386516, 1386626]]
ENST00000414651	[[1383921, 1383941], [1387809, 1387846], [1388523, 1388592], [1388741, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393531]]	[[1383925, 1383941], [1387809, 1387846], [1388523, 1388592], [1388741, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393406]]
ENST00000538929	[[1384049, 1384155], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393325]]	None
ENST00000538523	[[1387743, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393548]]	None
ENST00000540530	[[1387803, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393329], [1394416, 1395546]]	None
ENST00000535382	[[1387998, 1388303], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1395583]]	None
ENST00000539882	[[1388023, 1388303], [1388523, 1388798]]	None
ENST00000591358	[[1391840, 1395583]]	None
NM_024407	[[1383882, 1383941], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393329], [1395389, 1395588]]	[[1383925, 1383941], [1387809, 1387846], [1388523, 1388592], [1388831, 1388937], [1390869, 1391049], [1391117, 1391164], [1393240, 1393329], [1395389, 1395487]]

Promoter

Chrom	Start	End	Description
chr19	1383877	1383888	CAGE_peak_2_at_NDUFS7_5end
chr19	1383890	1383917	CAGE_peak_1_at_NDUFS7_5end
chr19	1388241	1388248	CAGE_peak_6_at_NDUFS7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I001386	1386975	1387754	0.31	[{'connected_gene': 'MUM1', 'score': 7.87}, {'connected_gene': 'PIR43938', 'score': 0.77}, {'connected_gene': 'ENSG00000280486', 'score': 0.77}, {'connected_gene': 'NDUFS7', 'score': 0.77}]
chr19	GH19I001851	1851002	1865946	2.66	[{'connected_gene': 'KLF16', 'score': 562.05}, {'connected_gene': 'ENSG00000267141', 'score': 550.77}, {'connected_gene': 'GC19M001854', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 14.16}, {'connected_gene': 'ATP8B3', 'score': 13.32}, {'connected_gene': 'DAZAP1', 'score': 12.18}, {'connected_gene': 'ZNF555', 'score': 11.15}, {'connected_gene': 'LOC100288123', 'score': 8.31}, {'connected_gene': 'REXO1', 'score': 5.92}, {'connected_gene': 'ELOCP28', 'score': 5.19}, {'connected_gene': 'NDUFS7', 'score': 2.25}, {'connected_gene': 'MOB3A', 'score': 2.1}, {'connected_gene': 'CSNK1G2', 'score': 1.79}, {'connected_gene': 'C19orf25', 'score': 1.49}, {'connected_gene': 'SCAMP4', 'score': 1.42}, {'connected_gene': 'ADAT3', 'score': 1.42}, {'connected_gene': 'TCF3', 'score': 1.37}, {'connected_gene': 'SPPL2B', 'score': 1.29}, {'connected_gene': 'PEAK3', 'score': 1.25}, {'connected_gene': 'PLEKHJ1', 'score': 1.23}, {'connected_gene': 'BTBD2', 'score': 1.2}, {'connected_gene': 'LSM7', 'score': 1.13}, {'connected_gene': 'ENSG00000267125', 'score': 0.44}, {'connected_gene': 'GC19P001851', 'score': 0.44}]
chr19	GH19I001381	1381143	1381953	0.8	[{'connected_gene': 'NDUFS7', 'score': 550.77}, {'connected_gene': 'TRF-GAA1-6', 'score': 550.77}, {'connected_gene': 'ENSG00000267755', 'score': 0.77}]
chr19	GH19I001395	1395351	1396848	0.79	[{'connected_gene': 'ENSG00000248015', 'score': 550.77}, {'connected_gene': 'MUM1', 'score': 16.43}, {'connected_gene': 'ENSG00000267666', 'score': 10.07}, {'connected_gene': 'AP3D1', 'score': 4.59}, {'connected_gene': 'ENSG00000280486', 'score': 0.44}, {'connected_gene': 'NDUFS7', 'score': 0.39}]
chr19	GH19I001394	1394602	1394811	1	[{'connected_gene': 'ENSG00000248015', 'score': 550.77}, {'connected_gene': 'CIRBP', 'score': 20.49}, {'connected_gene': 'ENSG00000261526', 'score': 12.07}, {'connected_gene': 'ENSG00000267283', 'score': 11.86}, {'connected_gene': 'TMEM259', 'score': 11.34}, {'connected_gene': 'SPPL2B', 'score': 10.5}, {'connected_gene': 'ENSG00000280486', 'score': 0.44}, {'connected_gene': 'NDUFS7', 'score': 0.39}]
chr19	GH19I001382	1382922	1385129	2.37	[{'connected_gene': 'PIR43938', 'score': 550.77}, {'connected_gene': 'TRF-GAA1-6', 'score': 550.77}, {'connected_gene': 'PIR60227', 'score': 550.77}, {'connected_gene': 'NDUFS7', 'score': 550.77}, {'connected_gene': 'TRN-GTT2-6', 'score': 550.77}, {'connected_gene': 'CIRBP', 'score': 135.56}, {'connected_gene': 'SF3A2', 'score': 119.07}, {'connected_gene': 'TMEM259', 'score': 103.99}, {'connected_gene': 'MUM1', 'score': 94.25}, {'connected_gene': 'TCF3', 'score': 75.15}, {'connected_gene': 'LOC100288123', 'score': 72.83}, {'connected_gene': 'DAZAP1', 'score': 66.92}, {'connected_gene': 'GRIN3B', 'score': 60.65}, {'connected_gene': 'SPPL2B', 'score': 57.85}, {'connected_gene': 'PTBP1', 'score': 50.93}, {'connected_gene': 'ENSG00000261526', 'score': 46.95}, {'connected_gene': 'ENSG00000267283', 'score': 45.56}, {'connected_gene': 'ENSG00000267317', 'score': 39.04}, {'connected_gene': 'MED16', 'score': 36.49}, {'connected_gene': 'AP3D1', 'score': 31.5}, {'connected_gene': 'DOT1L', 'score': 30.54}, {'connected_gene': 'MEX3D', 'score': 29.79}, {'connected_gene': 'PALM', 'score': 28.34}, {'connected_gene': 'LOC105372232', 'score': 27.53}, {'connected_gene': 'ENSG00000267666', 'score': 27.21}, {'connected_gene': 'WDR18', 'score': 22.59}, {'connected_gene': 'PLK5', 'score': 21.37}, {'connected_gene': 'C19orf24', 'score': 21.14}, {'connected_gene': 'CSNK1G2', 'score': 19.65}, {'connected_gene': 'CNN2', 'score': 17.98}, {'connected_gene': 'CFD', 'score': 14.77}, {'connected_gene': 'POLRMT', 'score': 12.27}, {'connected_gene': 'ATP8B3', 'score': 11.98}, {'connected_gene': 'ENSG00000268798', 'score': 11.92}, {'connected_gene': 'SCAMP4', 'score': 11.25}, {'connected_gene': 'STK11', 'score': 11.17}, {'connected_gene': 'LSM7', 'score': 10.91}, {'connected_gene': 'FGF22', 'score': 10.8}, {'connected_gene': 'C19orf25', 'score': 10.65}, {'connected_gene': 'MIDN', 'score': 10.47}, {'connected_gene': 'RPS15', 'score': 10.37}, {'connected_gene': 'MBD3', 'score': 10.35}, {'connected_gene': 'BTBD2', 'score': 10.05}, {'connected_gene': 'RNF126', 'score': 9.89}, {'connected_gene': 'SBNO2', 'score': 9.85}, {'connected_gene': 'ENSG00000280486', 'score': 0.44}]