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
ENST00000245907	[[6677714, 6678034], [6678162, 6678298], [6678382, 6678466], [6679135, 6679219], [6679417, 6679507], [6680168, 6680274], [6681951, 6682041], [6682152, 6682240], [6684398, 6684450], [6684570, 6684661], [6684785, 6684845], [6684998, 6685157], [6686134, 6686298], [6686756, 6686913], [6690639, 6690738], [6692934, 6693094], [6693422, 6693498], [6694441, 6694645], [6696389, 6696476], [6696603, 6696670], [6697354, 6697567], [6697662, 6697805], [6702137, 6702223], [6702481, 6702590], [6707086, 6707284], [6707476, 6707548], [6707810, 6707940], [6709694, 6709853], [6710649, 6710856], [6710997, 6711207], [6712267, 6712417], [6712518, 6712634], [6713199, 6713326], [6713417, 6713520], [6714002, 6714093], [6714176, 6714259], [6714362, 6714457], [6718104, 6718175], [6718257, 6718423], [6719221, 6719414], [6720526, 6720693]]	[[6677892, 6678034], [6678162, 6678298], [6678382, 6678466], [6679135, 6679219], [6679417, 6679507], [6680168, 6680274], [6681951, 6682041], [6682152, 6682240], [6684398, 6684450], [6684570, 6684661], [6684785, 6684845], [6684998, 6685157], [6686134, 6686298], [6686756, 6686913], [6690639, 6690738], [6692934, 6693094], [6693422, 6693498], [6694441, 6694645], [6696389, 6696476], [6696603, 6696670], [6697354, 6697567], [6697662, 6697805], [6702137, 6702223], [6702481, 6702590], [6707086, 6707284], [6707476, 6707548], [6707810, 6707940], [6709694, 6709853], [6710649, 6710856], [6710997, 6711207], [6712267, 6712417], [6712518, 6712634], [6713199, 6713326], [6713417, 6713520], [6714002, 6714093], [6714176, 6714259], [6714362, 6714457], [6718104, 6718175], [6718257, 6718423], [6719221, 6719414], [6720526, 6720600]]
ENST00000601008	[[6677907, 6677969], [6686756, 6686913], [6690639, 6690723]]	[[6677907, 6677969], [6686756, 6686913], [6690639, 6690723]]
ENST00000596548	[[6680169, 6680274], [6681951, 6682041], [6682152, 6682240], [6684398, 6684489], [6684570, 6684661], [6684785, 6684845], [6684998, 6685049]]	[[6680169, 6680274], [6681951, 6682041], [6682152, 6682240], [6684398, 6684489], [6684570, 6684661], [6684785, 6684845], [6684998, 6685049]]
ENST00000596238	[[6684570, 6684661], [6684785, 6684845], [6684998, 6685157], [6686134, 6686387]]	None
ENST00000601475	[[6677845, 6678034], [6678162, 6678341]]	None
ENST00000599899	[[6677851, 6678034], [6678162, 6678298], [6678382, 6678466], [6679135, 6679219], [6679417, 6679507], [6680168, 6680274], [6681951, 6682041], [6682152, 6683371]]	None
ENST00000602229	[[6677874, 6678298], [6678382, 6678466], [6679135, 6679212]]	[[6678158, 6678298], [6678382, 6678466], [6679135, 6679212]]
ENST00000599668	[[6677877, 6678034], [6678162, 6678298], [6678382, 6678466], [6679135, 6679219], [6679392, 6679507], [6680111, 6680162]]	None
ENST00000596179	[[6684243, 6684450], [6684570, 6684643]]	None
ENST00000598805	[[6686299, 6686913], [6690639, 6690738], [6692934, 6693094]]	None
ENST00000594005	[[6696624, 6696670], [6697354, 6697726]]	None
ENST00000602053	[[6697672, 6697805], [6702137, 6702223], [6702481, 6702883]]	None
ENST00000600763	[[6709766, 6709853], [6710649, 6710968]]	None
ENST00000594270	[[6712290, 6712417], [6712518, 6712613], [6713199, 6713326]]	None
ENST00000597442	[[6712317, 6712417], [6712518, 6712634], [6713199, 6713326], [6713417, 6713520], [6713776, 6713799]]	None
ENST00000595577	[[6712326, 6712417], [6712518, 6712634], [6713199, 6713326], [6713417, 6713520], [6714002, 6714093], [6714176, 6714362]]	None
ENST00000594936	[[6718044, 6718175], [6718257, 6718423], [6719221, 6719414], [6720526, 6720661]]	None
ENST00000600744	[[6718257, 6718423], [6719221, 6719414], [6723451, 6723774], [6730547, 6730573]]	[[6718257, 6718423], [6719221, 6719365]]
NM_000064	[[6677845, 6678034], [6678162, 6678298], [6678382, 6678466], [6679135, 6679219], [6679417, 6679507], [6680168, 6680274], [6681951, 6682041], [6682152, 6682240], [6684398, 6684450], [6684570, 6684661], [6684785, 6684845], [6684998, 6685157], [6686134, 6686298], [6686756, 6686913], [6690639, 6690738], [6692934, 6693094], [6693422, 6693498], [6694441, 6694645], [6696389, 6696476], [6696603, 6696670], [6697354, 6697567], [6697662, 6697805], [6702137, 6702223], [6702481, 6702590], [6707086, 6707284], [6707476, 6707548], [6707810, 6707940], [6709694, 6709853], [6710649, 6710856], [6710997, 6711207], [6712267, 6712417], [6712518, 6712634], [6713199, 6713326], [6713417, 6713520], [6714002, 6714093], [6714176, 6714259], [6714362, 6714457], [6718104, 6718175], [6718257, 6718423], [6719221, 6719414], [6720526, 6720693]]	[[6677892, 6678034], [6678162, 6678298], [6678382, 6678466], [6679135, 6679219], [6679417, 6679507], [6680168, 6680274], [6681951, 6682041], [6682152, 6682240], [6684398, 6684450], [6684570, 6684661], [6684785, 6684845], [6684998, 6685157], [6686134, 6686298], [6686756, 6686913], [6690639, 6690738], [6692934, 6693094], [6693422, 6693498], [6694441, 6694645], [6696389, 6696476], [6696603, 6696670], [6697354, 6697567], [6697662, 6697805], [6702137, 6702223], [6702481, 6702590], [6707086, 6707284], [6707476, 6707548], [6707810, 6707940], [6709694, 6709853], [6710649, 6710856], [6710997, 6711207], [6712267, 6712417], [6712518, 6712634], [6713199, 6713326], [6713417, 6713520], [6714002, 6714093], [6714176, 6714259], [6714362, 6714457], [6718104, 6718175], [6718257, 6718423], [6719221, 6719414], [6720526, 6720600]]

Promoter

Chrom	Start	End	Description
chr19	6680204	6680234	CAGE_peak_8_at_C3_5end
chr19	6680235	6680290	CAGE_peak_4_at_C3_5end
chr19	6686212	6686255	CAGE_peak_7_at_C3_5end
chr19	6686274	6686289	CAGE_peak_10_at_C3_5end
chr19	6693002	6693023	CAGE_peak_9_at_C3_5end
chr19	6693051	6693096	CAGE_peak_6_at_C3_5end
chr19	6693489	6693505	CAGE_peak_16_at_C3_5end
chr19	6697476	6697515	CAGE_peak_3_at_C3_5end
chr19	6697545	6697565	CAGE_peak_11_at_C3_5end
chr19	6697693	6697714	CAGE_peak_21_at_C3_5end
chr19	6702555	6702600	CAGE_peak_5_at_C3_5end
chr19	6710641	6710652	CAGE_peak_37_at_C3_5end
chr19	6710715	6710743	CAGE_peak_15_at_C3_5end
chr19	6710750	6710769	CAGE_peak_32_at_C3_5end
chr19	6711060	6711085	CAGE_peak_12_at_C3_5end
chr19	6711107	6711132	CAGE_peak_13_at_C3_5end
chr19	6711213	6711224	CAGE_peak_58_at_C3_5end
chr19	6711262	6711271	CAGE_peak_71_at_C3_5end
chr19	6720653	6720670	CAGE_peak_1_at_C3_5end
chr19	6720686	6720694	CAGE_peak_2_at_C3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I006674	6674538	6675675	1.7	[{'connected_gene': 'TNFSF14', 'score': 51.55}, {'connected_gene': 'DENND1C', 'score': 14.97}, {'connected_gene': 'C3', 'score': 12.09}, {'connected_gene': 'GPR108', 'score': 12.07}, {'connected_gene': 'TRIP10', 'score': 12.07}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'ZNF557', 'score': 11.44}, {'connected_gene': 'DUS3L', 'score': 10.27}, {'connected_gene': 'KHSRP', 'score': 9.76}, {'connected_gene': 'STXBP2', 'score': 9.72}, {'connected_gene': 'ADGRE1', 'score': 4.81}, {'connected_gene': 'VAV1', 'score': 2.93}, {'connected_gene': 'TNFSF9', 'score': 1.78}, {'connected_gene': 'GC19P006699', 'score': 0.34}]
chr19	GH19I006679	6679001	6680200	0.83	[{'connected_gene': 'TNFSF14', 'score': 0.44}, {'connected_gene': 'GC19P006699', 'score': 0.34}, {'connected_gene': 'C3', 'score': 0.23}]
chr19	GH19I006677	6677598	6678600	1.22	[{'connected_gene': 'TNFSF14', 'score': 0.44}, {'connected_gene': 'GC19P006699', 'score': 0.34}, {'connected_gene': 'C3', 'score': 0.23}]
chr19	GH19I006717	6717953	6724363	1.93	[{'connected_gene': 'C3', 'score': 550.44}, {'connected_gene': 'GPR108', 'score': 16.36}, {'connected_gene': 'ZNF557', 'score': 14.82}, {'connected_gene': 'DUS3L', 'score': 14.11}, {'connected_gene': 'XAB2', 'score': 13.01}, {'connected_gene': 'TNFSF14', 'score': 12.85}, {'connected_gene': 'RANBP3', 'score': 11.27}, {'connected_gene': 'ENSG00000276980', 'score': 0.77}]
chr19	GH19I006731	6731638	6732563	0.31	[{'connected_gene': 'C3', 'score': 550.77}, {'connected_gene': 'GPR108', 'score': 8.25}, {'connected_gene': 'MIR6791', 'score': 0.77}]
chr19	GH19I006728	6728121	6731324	1.39	[{'connected_gene': 'C3', 'score': 550.77}, {'connected_gene': 'GPR108', 'score': 22.82}, {'connected_gene': 'ENSG00000276980', 'score': 0.39}]
chr19	GH19I006708	6708724	6709013	0.53	[{'connected_gene': 'C3', 'score': 22.07}, {'connected_gene': 'GC19P006699', 'score': 0.44}, {'connected_gene': 'ENSG00000276980', 'score': 0.44}]
chr19	GH19I006724	6724593	6726378	1.2	[{'connected_gene': 'GPR108', 'score': 7.18}, {'connected_gene': 'C3', 'score': 0.44}, {'connected_gene': 'ENSG00000276980', 'score': 0.44}]
chr19	GH19I007380	7380655	7380955	1.04	[{'connected_gene': 'ARHGEF18', 'score': 12.49}, {'connected_gene': 'C3', 'score': 5.55}, {'connected_gene': 'ZNF557', 'score': 4.24}, {'connected_gene': 'STXBP2', 'score': 3.59}, {'connected_gene': 'PNPLA6', 'score': 2.06}, {'connected_gene': 'XAB2', 'score': 1.91}, {'connected_gene': 'EVI5L', 'score': 1.38}, {'connected_gene': 'GC19P007378', 'score': 0.77}, {'connected_gene': 'ENSG00000268861', 'score': 0.77}, {'connected_gene': 'ENSG00000263264', 'score': 0.29}]
chr19	GH19I006718	6717530	6717751	0.98	[{'connected_gene': 'ENSG00000276980', 'score': 550.77}, {'connected_gene': 'XAB2', 'score': 104.03}, {'connected_gene': 'ZNF557', 'score': 103.17}, {'connected_gene': 'DUS3L', 'score': 92.4}, {'connected_gene': 'ENSG00000267571', 'score': 64.59}, {'connected_gene': 'KHSRP', 'score': 62.29}, {'connected_gene': 'VMAC', 'score': 51.2}, {'connected_gene': 'GPR108', 'score': 46.51}, {'connected_gene': 'RANBP3', 'score': 38.83}, {'connected_gene': 'TRIP10', 'score': 23.64}, {'connected_gene': 'ENSG00000269680', 'score': 11.64}, {'connected_gene': 'C3', 'score': 0.39}, {'connected_gene': 'GC19P006699', 'score': 0.37}]