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
ENST00000543436	[[9220259, 9220408], [9242507, 9242619], [9242951, 9243078], [9243796, 9244008]]	[[9220259, 9220408], [9242507, 9242619], [9242951, 9243078], [9243796, 9244008]]
ENST00000495442	[[9220307, 9220820], [9221335, 9221551]]	None
ENST00000495709	[[9220307, 9220435], [9220778, 9220820], [9221335, 9221674]]	None
ENST00000318602	[[9220307, 9220435], [9220778, 9220820], [9221335, 9221438], [9222340, 9222409], [9223083, 9223174], [9224954, 9225082], [9225248, 9225467], [9227155, 9227379], [9229351, 9229532], [9229941, 9230016], [9230296, 9230453], [9231839, 9231927], [9232234, 9232411], [9232689, 9232773], [9241795, 9241847], [9242497, 9242619], [9242951, 9243078], [9243796, 9244025], [9246060, 9246175], [9247568, 9247680], [9248134, 9248296], [9251202, 9251352], [9251976, 9252119], [9253739, 9253803], [9254042, 9254270], [9256834, 9256996], [9258831, 9258941], [9259086, 9259201], [9260119, 9260240], [9261916, 9262001], [9262462, 9262631], [9262909, 9262930], [9264754, 9264807], [9264972, 9265132], [9265955, 9266139], [9268359, 9268753]]	[[9220418, 9220435], [9220778, 9220820], [9221335, 9221438], [9222340, 9222409], [9223083, 9223174], [9224954, 9225082], [9225248, 9225467], [9227155, 9227379], [9229351, 9229532], [9229941, 9230016], [9230296, 9230453], [9231839, 9231927], [9232234, 9232411], [9232689, 9232773], [9241795, 9241847], [9242497, 9242619], [9242951, 9243078], [9243796, 9244025], [9246060, 9246175], [9247568, 9247680], [9248134, 9248296], [9251202, 9251352], [9251976, 9252119], [9253739, 9253803], [9254042, 9254270], [9256834, 9256996], [9258831, 9258941], [9259086, 9259201], [9260119, 9260240], [9261916, 9262001], [9262462, 9262631], [9262909, 9262930], [9264754, 9264807], [9264972, 9265132], [9265955, 9266139], [9268359, 9268445]]
ENST00000545828	[[9225028, 9225082], [9225248, 9225317], [9254145, 9254270], [9256834, 9256996], [9258831, 9258892]]	None
ENST00000542567	[[9230364, 9230453], [9231839, 9231927], [9232234, 9232411], [9232689, 9232773], [9232869, 9232994]]	None
ENST00000462568	[[9232576, 9232773], [9241795, 9241847], [9242497, 9242619], [9242951, 9243126]]	None
ENST00000546069	[[9243991, 9244025], [9246060, 9246175], [9247568, 9247680], [9248134, 9248296], [9252061, 9252119], [9253739, 9253803], [9254042, 9254090]]	[[9248244, 9248296], [9252061, 9252119], [9253739, 9253803], [9254042, 9254090]]
ENST00000472360	[[9250977, 9251352], [9251976, 9252119], [9253739, 9253803], [9254042, 9254152]]	None
ENST00000539638	[[9261935, 9262001], [9262462, 9262631], [9262909, 9262930], [9264754, 9264807], [9265955, 9266139], [9268359, 9268456]]	[[9264804, 9264807], [9265955, 9266139], [9268359, 9268445]]
ENST00000404455	[[9262909, 9262930], [9264754, 9264807], [9264972, 9265132], [9265955, 9266139], [9268359, 9268462], [9268723, 9268825]]	[[9262909, 9262930], [9264754, 9264807], [9264972, 9265132], [9265955, 9266139], [9268359, 9268445]]
ENST00000467091	[[9265234, 9265285], [9265955, 9266139], [9268359, 9268657]]	None
ENST00000497324	[[9267753, 9268032], [9268359, 9268613]]	None
NM_001347424	[[9220303, 9220435], [9220778, 9220820], [9221335, 9221438], [9222340, 9222409], [9223083, 9223174], [9224954, 9225082], [9225248, 9225467], [9227155, 9227379], [9229351, 9229532], [9229941, 9230016], [9230296, 9230453], [9231839, 9231927], [9232234, 9232411], [9232689, 9232773], [9241795, 9241847], [9242497, 9242619], [9242951, 9243078], [9243796, 9244025], [9246060, 9246175], [9247568, 9247680], [9248134, 9248296], [9251202, 9251352], [9251976, 9252119], [9253739, 9253803], [9254042, 9254270], [9256834, 9256996], [9258831, 9258941], [9259086, 9259201], [9260119, 9260240], [9261916, 9262001], [9262462, 9262631], [9262909, 9262930], [9264754, 9264807], [9264972, 9265285], [9265955, 9266139], [9268359, 9268825]]	[[9220418, 9220435], [9220778, 9220820], [9221335, 9221438], [9222340, 9222409], [9223083, 9223174], [9224954, 9225082], [9225248, 9225467], [9227155, 9227379], [9229351, 9229532], [9229941, 9230016], [9230296, 9230453], [9231839, 9231927], [9232234, 9232411], [9232689, 9232773], [9241795, 9241847], [9242497, 9242619], [9242951, 9243078], [9243796, 9244025], [9246060, 9246175], [9247568, 9247680], [9248134, 9248296], [9251202, 9251352], [9251976, 9252119], [9253739, 9253803], [9254042, 9254270], [9256834, 9256996], [9258831, 9258941], [9259086, 9259201], [9260119, 9260240], [9261916, 9262001], [9262462, 9262631], [9262909, 9262930], [9264754, 9264807], [9264972, 9265102]]
NM_000014	[[9220303, 9220435], [9220778, 9220820], [9221335, 9221438], [9222340, 9222409], [9223083, 9223174], [9224954, 9225082], [9225248, 9225467], [9227155, 9227379], [9229351, 9229532], [9229941, 9230016], [9230296, 9230453], [9231839, 9231927], [9232234, 9232411], [9232689, 9232773], [9241795, 9241847], [9242497, 9242619], [9242951, 9243078], [9243796, 9244025], [9246060, 9246175], [9247568, 9247680], [9248134, 9248296], [9251202, 9251352], [9251976, 9252119], [9253739, 9253803], [9254042, 9254270], [9256834, 9256996], [9258831, 9258941], [9259086, 9259201], [9260119, 9260240], [9261916, 9262001], [9262462, 9262631], [9262909, 9262930], [9264754, 9264807], [9264972, 9265132], [9265955, 9266139], [9268359, 9268825]]	[[9220418, 9220435], [9220778, 9220820], [9221335, 9221438], [9222340, 9222409], [9223083, 9223174], [9224954, 9225082], [9225248, 9225467], [9227155, 9227379], [9229351, 9229532], [9229941, 9230016], [9230296, 9230453], [9231839, 9231927], [9232234, 9232411], [9232689, 9232773], [9241795, 9241847], [9242497, 9242619], [9242951, 9243078], [9243796, 9244025], [9246060, 9246175], [9247568, 9247680], [9248134, 9248296], [9251202, 9251352], [9251976, 9252119], [9253739, 9253803], [9254042, 9254270], [9256834, 9256996], [9258831, 9258941], [9259086, 9259201], [9260119, 9260240], [9261916, 9262001], [9262462, 9262631], [9262909, 9262930], [9264754, 9264807], [9264972, 9265132], [9265955, 9266139], [9268359, 9268445]]
NM_001347425	[[9220303, 9220435], [9220778, 9220820], [9221335, 9221438], [9222340, 9222409], [9223083, 9223174], [9224954, 9225082], [9225248, 9225467], [9227155, 9227379], [9229351, 9229532], [9229941, 9230016], [9230296, 9230453], [9231839, 9231927], [9232234, 9232411], [9232689, 9232773], [9241795, 9241847], [9242497, 9242619], [9242951, 9243078], [9243796, 9244025], [9246060, 9246175], [9247568, 9247680], [9248134, 9248296], [9251202, 9251352], [9251976, 9252119], [9253739, 9253803], [9254042, 9254270], [9256834, 9256996], [9258831, 9258941], [9259086, 9259201], [9260119, 9260240], [9261916, 9262001], [9262462, 9262631], [9262909, 9262930], [9264754, 9264807], [9265955, 9266139], [9268359, 9268825]]	[[9220418, 9220435], [9220778, 9220820], [9221335, 9221438], [9222340, 9222409], [9223083, 9223174], [9224954, 9225082], [9225248, 9225467], [9227155, 9227379], [9229351, 9229532], [9229941, 9230016], [9230296, 9230453], [9231839, 9231927], [9232234, 9232411], [9232689, 9232773], [9241795, 9241847], [9242497, 9242619], [9242951, 9243078], [9243796, 9244025], [9246060, 9246175], [9247568, 9247680], [9248134, 9248296], [9251202, 9251352], [9251976, 9252119], [9253739, 9253803], [9254042, 9254270], [9256834, 9256996], [9258831, 9258941], [9259086, 9259201], [9260119, 9260240], [9261916, 9262001], [9262462, 9262631], [9262909, 9262930], [9264754, 9264787]]
NM_001347423	[[9220303, 9220435], [9220778, 9220820], [9221335, 9221438], [9222340, 9222409], [9223083, 9223174], [9224954, 9225082], [9225248, 9225467], [9227155, 9227379], [9229351, 9229532], [9229941, 9230016], [9230296, 9230453], [9231839, 9231927], [9232234, 9232411], [9232689, 9232773], [9241795, 9241847], [9242497, 9242619], [9242951, 9243078], [9243796, 9244025], [9246060, 9246175], [9247568, 9247680], [9248134, 9248296], [9251202, 9251352], [9251976, 9252119], [9253739, 9253803], [9254042, 9254270], [9256834, 9256996], [9258831, 9258941], [9259086, 9259201], [9260119, 9260240], [9261916, 9262001], [9262462, 9262631], [9262909, 9262930], [9264754, 9264807], [9264972, 9265132], [9265955, 9266139], [9268359, 9268462], [9268723, 9268825]]	[[9220418, 9220435], [9220778, 9220820], [9221335, 9221438], [9222340, 9222409], [9223083, 9223174], [9224954, 9225082], [9225248, 9225467], [9227155, 9227379], [9229351, 9229532], [9229941, 9230016], [9230296, 9230453], [9231839, 9231927], [9232234, 9232411], [9232689, 9232773], [9241795, 9241847], [9242497, 9242619], [9242951, 9243078], [9243796, 9244025], [9246060, 9246175], [9247568, 9247680], [9248134, 9248296], [9251202, 9251352], [9251976, 9252119], [9253739, 9253803], [9254042, 9254270], [9256834, 9256996], [9258831, 9258941], [9259086, 9259201], [9260119, 9260240], [9261916, 9262001], [9262462, 9262631], [9262909, 9262930], [9264754, 9264807], [9264972, 9265132], [9265955, 9266139], [9268359, 9268445]]

Promoter

Chrom	Start	End	Description
chr12	9242983	9242995	CAGE_peak_9_at_A2M_5end
chr12	9254248	9254264	CAGE_peak_13_at_A2M_5end
chr12	9268445	9268461	CAGE_peak_3_at_A2M_5end
chr12	9268507	9268523	CAGE_peak_1_at_A2M_5end
chr12	9268528	9268542	CAGE_peak_2_at_A2M_5end
chr12	9268547	9268556	CAGE_peak_4_at_A2M_5end
chr12	9268559	9268568	CAGE_peak_5_at_A2M_5end
chr12	9268707	9268758	CAGE_peak_6_at_A2M_5end
chr12	9268765	9268779	CAGE_peak_8_at_A2M_5end
chr12	9268819	9268829	CAGE_peak_10_at_A2M_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I009118	9118225	9118494	0.56	[{'connected_gene': 'PZP', 'score': 10.13}, {'connected_gene': 'A2M', 'score': 0.77}, {'connected_gene': 'GC12M009115', 'score': 0.77}]
chr12	GH12I009023	9023531	9028342	0.51	[{'connected_gene': 'M6PR', 'score': 13.87}, {'connected_gene': 'KLRG1', 'score': 12.68}, {'connected_gene': 'PHC1', 'score': 11.08}, {'connected_gene': 'LINC00987', 'score': 11.0}, {'connected_gene': 'A2M', 'score': 5.21}, {'connected_gene': 'HNRNPA1P34', 'score': 0.77}, {'connected_gene': 'ENSG00000257105', 'score': 0.31}]
chr12	GH12I009083	9083432	9084157	0.42	[{'connected_gene': 'A2M', 'score': 23.59}, {'connected_gene': 'LOC642846', 'score': 11.43}, {'connected_gene': 'KLRG1', 'score': 9.24}, {'connected_gene': 'GC12M009066', 'score': 0.44}]
chr12	GH12I009113	9113800	9118143	1.93	[{'connected_gene': 'A2M', 'score': 567.8}, {'connected_gene': 'KLRG1', 'score': 12.1}, {'connected_gene': 'PZP', 'score': 10.13}, {'connected_gene': 'GC12M009115', 'score': 0.77}, {'connected_gene': 'GC12M009066', 'score': 0.26}]
chr12	GH12I009131	9131432	9133883	1.17	[{'connected_gene': 'A2M', 'score': 10.21}, {'connected_gene': 'KRT17P8', 'score': 0.77}, {'connected_gene': 'BTG1P1', 'score': 0.77}, {'connected_gene': 'GC12M009133', 'score': 0.44}]
chr12	GH12I009063	9063609	9065894	1.42	[{'connected_gene': 'A2M-AS1', 'score': 562.17}, {'connected_gene': 'LINC00612', 'score': 550.77}, {'connected_gene': 'A2M', 'score': 23.42}, {'connected_gene': 'KRT17P8', 'score': 10.83}, {'connected_gene': 'BTG1P1', 'score': 10.82}, {'connected_gene': 'VDAC2P2', 'score': 0.31}]
chr12	GH12I009072	9072489	9073834	0.6	[{'connected_gene': 'A2M-AS1', 'score': 12.71}, {'connected_gene': 'A2M', 'score': 12.0}, {'connected_gene': 'GC12M009066', 'score': 0.77}]
chr12	GH12I009110	9110547	9110908	0.39	[{'connected_gene': 'A2M-AS1', 'score': 6.18}, {'connected_gene': 'KLRG1', 'score': 4.74}, {'connected_gene': 'KLRB1', 'score': 2.68}, {'connected_gene': 'A2M', 'score': 0.44}, {'connected_gene': 'GC12M009066', 'score': 0.28}]
chr12	GH12I009156	9156336	9156722	0.22	[{'connected_gene': 'TPT1P12', 'score': 550.77}, {'connected_gene': 'GC12M009156', 'score': 550.77}, {'connected_gene': 'BTG1P1', 'score': 12.23}, {'connected_gene': 'KRT17P8', 'score': 12.21}, {'connected_gene': 'A2M', 'score': 10.67}, {'connected_gene': 'PZP', 'score': 2.26}, {'connected_gene': 'KLRB1', 'score': 2.01}, {'connected_gene': 'KLRG1', 'score': 1.7}, {'connected_gene': 'M6PR', 'score': 1.63}, {'connected_gene': 'PIR34456', 'score': 0.44}]