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
ENST00000376292	[[75133437, 75133812], [75134735, 75134924], [75136437, 75136626], [75137564, 75137683], [75139486, 75139671], [75140793, 75141236]]	[[75133623, 75133812], [75134735, 75134924], [75136437, 75136626], [75137564, 75137683], [75139486, 75139671], [75140793, 75141014]]
ENST00000539798	[[75133439, 75133812], [75134735, 75134924], [75136437, 75136626], [75137564, 75137683], [75139486, 75139671], [75140793, 75141674]]	[[75133623, 75133812], [75134735, 75134924], [75136437, 75136626], [75137564, 75137683], [75139486, 75139671], [75140793, 75141674]]
ENST00000460787	[[75133464, 75133812], [75134735, 75134924], [75136437, 75137683], [75139486, 75139695], [75140793, 75141107]]	None
ENST00000527491	[[75136550, 75136626], [75137527, 75137884]]	None
NM_001039548	[[75133437, 75133812], [75134735, 75134924], [75136437, 75136626], [75137564, 75137683], [75139486, 75139671], [75140793, 75141674]]	[[75133623, 75133812], [75134735, 75134924], [75136437, 75136626], [75137564, 75137683], [75139486, 75139671], [75140793, 75141674]]

Promoter

Chrom	Start	End	Description
chr11	75140914	75140942	CAGE_peak_2_at_KLHL35_5end
chr11	75140966	75140979	CAGE_peak_7_at_KLHL35_5end
chr11	75140985	75141007	CAGE_peak_4_at_KLHL35_5end
chr11	75141017	75141039	CAGE_peak_3_at_KLHL35_5end
chr11	75141206	75141251	CAGE_peak_1_at_KLHL35_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I075556	75556674	75567142	2.25	[{'connected_gene': 'SERPINH1', 'score': 556.14}, {'connected_gene': 'RPS3', 'score': 23.55}, {'connected_gene': 'RNF169', 'score': 21.42}, {'connected_gene': 'EMSY', 'score': 14.12}, {'connected_gene': 'LOC105369391', 'score': 11.7}, {'connected_gene': 'SNORD15B', 'score': 11.67}, {'connected_gene': 'GDPD5', 'score': 11.34}, {'connected_gene': 'MAP6', 'score': 11.09}, {'connected_gene': 'KLHL35', 'score': 10.69}, {'connected_gene': 'RN7SL239P', 'score': 10.24}, {'connected_gene': 'MOGAT2', 'score': 9.73}, {'connected_gene': 'RPS12P22', 'score': 4.39}]
chr11	GH11I075471	75471923	75472342	0.31	[{'connected_gene': 'GDPD5', 'score': 11.98}, {'connected_gene': 'KLHL35', 'score': 11.67}, {'connected_gene': 'SERPINH1', 'score': 10.76}, {'connected_gene': 'PIR48197', 'score': 0.31}, {'connected_gene': 'GC11M075443', 'score': 0.31}, {'connected_gene': 'ENSG00000254460', 'score': 0.28}]
chr11	GH11I075472	75471696	75471845	0.2	[{'connected_gene': 'GDPD5', 'score': 11.98}, {'connected_gene': 'KLHL35', 'score': 11.67}, {'connected_gene': 'SERPINH1', 'score': 10.76}, {'connected_gene': 'PIR48197', 'score': 0.31}, {'connected_gene': 'GC11M075443', 'score': 0.31}, {'connected_gene': 'ENSG00000254460', 'score': 0.28}]
chr11	GH11I075475	75474356	75474525	0.49	[{'connected_gene': 'GDPD5', 'score': 11.98}, {'connected_gene': 'KLHL35', 'score': 11.66}, {'connected_gene': 'SERPINH1', 'score': 10.76}, {'connected_gene': 'PIR48197', 'score': 0.29}, {'connected_gene': 'GC11M075443', 'score': 0.29}, {'connected_gene': 'ENSG00000254460', 'score': 0.29}]
chr11	GH11I075468	75468019	75470220	0.96	[{'connected_gene': 'GDPD5', 'score': 18.05}, {'connected_gene': 'KLHL35', 'score': 17.67}, {'connected_gene': 'SNORD15B', 'score': 11.33}, {'connected_gene': 'SERPINH1', 'score': 10.39}, {'connected_gene': 'LOC105369391', 'score': 10.29}, {'connected_gene': 'MOGAT2', 'score': 9.65}, {'connected_gene': 'PIR48197', 'score': 0.31}, {'connected_gene': 'GC11M075443', 'score': 0.31}, {'connected_gene': 'ENSG00000254460', 'score': 0.28}]
chr11	GH11I075465	75465847	75466786	0.63	[{'connected_gene': 'GDPD5', 'score': 17.59}, {'connected_gene': 'KLHL35', 'score': 11.59}, {'connected_gene': 'SNORD15B', 'score': 11.33}, {'connected_gene': 'SERPINH1', 'score': 10.38}, {'connected_gene': 'LOC105369391', 'score': 10.28}, {'connected_gene': 'MOGAT2', 'score': 9.65}, {'connected_gene': 'PIR48197', 'score': 0.34}, {'connected_gene': 'GC11M075443', 'score': 0.34}, {'connected_gene': 'ENSG00000254460', 'score': 0.26}]
chr11	GH11I075461	75461637	75464190	0.67	[{'connected_gene': 'GDPD5', 'score': 17.84}, {'connected_gene': 'KLHL35', 'score': 12.39}, {'connected_gene': 'SNORD15B', 'score': 11.4}, {'connected_gene': 'LOC105369391', 'score': 10.8}, {'connected_gene': 'SERPINH1', 'score': 10.38}, {'connected_gene': 'MIR326', 'score': 10.35}, {'connected_gene': 'MOGAT2', 'score': 9.65}, {'connected_gene': 'PIR48197', 'score': 0.34}, {'connected_gene': 'GC11M075443', 'score': 0.34}, {'connected_gene': 'ENSG00000254460', 'score': 0.25}]
chr11	GH11I075522	75522027	75526629	2.18	[{'connected_gene': 'GDPD5', 'score': 557.42}, {'connected_gene': 'KLHL35', 'score': 11.17}, {'connected_gene': 'LOC105369391', 'score': 10.9}, {'connected_gene': 'SNORD15B', 'score': 10.73}, {'connected_gene': 'LOC105369389', 'score': 0.39}]
chr11	GH11I075497	75497846	75501302	0.95	[{'connected_gene': 'GDPD5', 'score': 9.21}, {'connected_gene': 'KLHL35', 'score': 7.6}, {'connected_gene': 'ENSG00000254460', 'score': 0.44}, {'connected_gene': 'PIR48197', 'score': 0.22}, {'connected_gene': 'GC11M075443', 'score': 0.22}]
chr11	GH11I075398	75398897	75403686	2.11	[{'connected_gene': 'RPS3', 'score': 588.89}, {'connected_gene': 'SNORD15A', 'score': 550.77}, {'connected_gene': 'GC11P075414', 'score': 550.77}, {'connected_gene': 'GC11P075411', 'score': 550.77}, {'connected_gene': 'GC11P075418', 'score': 550.77}, {'connected_gene': 'PIR55667', 'score': 550.77}, {'connected_gene': 'GC11P075412', 'score': 550.77}, {'connected_gene': 'POLD3', 'score': 49.45}, {'connected_gene': 'RNF169', 'score': 38.63}, {'connected_gene': 'KLHL35', 'score': 28.88}, {'connected_gene': 'SERPINH1', 'score': 14.74}, {'connected_gene': 'SNORD15B', 'score': 12.34}, {'connected_gene': 'UVRAG', 'score': 12.04}, {'connected_gene': 'GDPD5', 'score': 10.99}, {'connected_gene': 'RN7SL239P', 'score': 10.24}, {'connected_gene': 'GC11P075416', 'score': 0.77}]
chr11	GH11I075474	75474601	75477284	1.1	[{'connected_gene': 'EMSY', 'score': 29.61}, {'connected_gene': 'KLHL35', 'score': 18.91}, {'connected_gene': 'GDPD5', 'score': 17.76}, {'connected_gene': 'LOC105369391', 'score': 11.32}, {'connected_gene': 'POLD3', 'score': 10.88}, {'connected_gene': 'SERPINH1', 'score': 10.76}, {'connected_gene': 'ENSG00000254837', 'score': 9.89}, {'connected_gene': 'PIR48197', 'score': 0.29}, {'connected_gene': 'ENSG00000254460', 'score': 0.29}, {'connected_gene': 'GC11M075443', 'score': 0.29}]
chr11	GH11I075389	75389337	75389401	0.38	[{'connected_gene': 'ARRB1', 'score': 12.55}, {'connected_gene': 'GDPD5', 'score': 11.17}, {'connected_gene': 'MIR326', 'score': 10.83}, {'connected_gene': 'KLHL35', 'score': 4.56}, {'connected_gene': 'RPS3', 'score': 0.39}]
chr11	GH11I075384	75384321	75385226	1.08	[{'connected_gene': 'ARRB1', 'score': 12.84}, {'connected_gene': 'MIR326', 'score': 11.82}, {'connected_gene': 'KLHL35', 'score': 10.99}, {'connected_gene': 'GDPD5', 'score': 10.45}, {'connected_gene': 'LOC105369391', 'score': 9.69}, {'connected_gene': 'RPS3', 'score': 0.39}]
chr11	GH11I075385	75385353	75389199	1.1	[{'connected_gene': 'ARRB1', 'score': 20.23}, {'connected_gene': 'MIR326', 'score': 11.8}, {'connected_gene': 'KLHL35', 'score': 11.39}, {'connected_gene': 'GDPD5', 'score': 11.17}, {'connected_gene': 'LOC105369391', 'score': 9.69}, {'connected_gene': 'RPS3', 'score': 0.39}]
chr11	GH11I075382	75382438	75384026	0.72	[{'connected_gene': 'ARRB1', 'score': 12.84}, {'connected_gene': 'MIR326', 'score': 11.82}, {'connected_gene': 'SNORD15B', 'score': 11.38}, {'connected_gene': 'KLHL35', 'score': 10.98}, {'connected_gene': 'GDPD5', 'score': 10.45}, {'connected_gene': 'LOC105369391', 'score': 9.69}, {'connected_gene': 'RPS3', 'score': 0.37}]
chr11	GH11I075379	75379935	75381490	1.18	[{'connected_gene': 'ARRB1', 'score': 12.86}, {'connected_gene': 'MIR326', 'score': 11.82}, {'connected_gene': 'SNORD15B', 'score': 11.38}, {'connected_gene': 'KLHL35', 'score': 10.98}, {'connected_gene': 'GDPD5', 'score': 10.45}, {'connected_gene': 'LOC105369391', 'score': 9.69}, {'connected_gene': 'RPS3', 'score': 0.37}]
chr11	GH11I075327	75327294	75353678	2.83	[{'connected_gene': 'ARRB1', 'score': 561.78}, {'connected_gene': 'POLD3', 'score': 27.02}, {'connected_gene': 'GDPD5', 'score': 14.11}, {'connected_gene': 'SNORD15B', 'score': 10.76}, {'connected_gene': 'KLHL35', 'score': 10.37}, {'connected_gene': 'XRRA1', 'score': 10.15}, {'connected_gene': 'RNF169', 'score': 9.85}, {'connected_gene': 'NEU3', 'score': 6.23}, {'connected_gene': 'RPS3', 'score': 5.72}, {'connected_gene': 'ENSG00000254974', 'score': 4.77}, {'connected_gene': 'UVRAG', 'score': 3.32}, {'connected_gene': 'SPCS2', 'score': 2.35}, {'connected_gene': 'DGAT2', 'score': 1.66}, {'connected_gene': 'MIR326', 'score': 0.44}, {'connected_gene': 'PIR38786', 'score': 0.39}, {'connected_gene': 'GC11M075328', 'score': 0.39}, {'connected_gene': 'GC11M075327', 'score': 0.39}]
chr11	GH11I075532	75532201	75532799	1.03	[{'connected_gene': 'KLHL35', 'score': 11.38}, {'connected_gene': 'SERPINH1', 'score': 11.35}, {'connected_gene': 'LOC105369391', 'score': 10.62}, {'connected_gene': 'GDPD5', 'score': 0.44}]
chr11	GH11I075490	75490058	75491374	0.57	[{'connected_gene': 'KLHL35', 'score': 7.57}, {'connected_gene': 'GDPD5', 'score': 6.13}, {'connected_gene': 'ENSG00000254460', 'score': 0.37}, {'connected_gene': 'PIR48197', 'score': 0.25}, {'connected_gene': 'GC11M075443', 'score': 0.25}]
chr11	GH11I075491	75491856	75492925	0.8	[{'connected_gene': 'KLHL35', 'score': 7.57}, {'connected_gene': 'GDPD5', 'score': 6.32}, {'connected_gene': 'ENSG00000254460', 'score': 0.37}, {'connected_gene': 'PIR48197', 'score': 0.25}, {'connected_gene': 'GC11M075443', 'score': 0.25}]
chr11	GH11I075417	75417596	75424237	1.14	[{'connected_gene': 'KLHL35', 'score': 18.32}, {'connected_gene': 'RPS3', 'score': 17.14}, {'connected_gene': 'ENSG00000254837', 'score': 4.76}, {'connected_gene': 'GC11M075423', 'score': 0.77}, {'connected_gene': 'SNORD15B', 'score': 0.37}]
chr11	GH11I075413	75413033	75415271	0.43	[{'connected_gene': 'KLHL35', 'score': 18.18}, {'connected_gene': 'SNORD15B', 'score': 0.44}, {'connected_gene': 'GC11M075423', 'score': 0.39}, {'connected_gene': 'RPS3', 'score': 0.39}]
chr11	GH11I075433	75433116	75433225	0.46	[{'connected_gene': 'KLHL35', 'score': 561.74}, {'connected_gene': 'GC11M075423', 'score': 0.44}]
chr11	GH11I075427	75427758	75431061	1.46	[{'connected_gene': 'KLHL35', 'score': 18.23}, {'connected_gene': 'GC11M075423', 'score': 0.77}]
chr11	GH11I075557	75556396	75556545	0.4	[{'connected_gene': 'LOC105369391', 'score': 11.67}, {'connected_gene': 'GDPD5', 'score': 11.36}, {'connected_gene': 'MAP6', 'score': 11.08}, {'connected_gene': 'KLHL35', 'score': 10.69}, {'connected_gene': 'MOGAT2', 'score': 9.33}, {'connected_gene': 'SERPINH1', 'score': 0.44}]