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
ENST00000290341	[[47074773, 47075282], [47076470, 47076531], [47102979, 47103028], [47103827, 47103879], [47109271, 47109335], [47115529, 47115811], [47117318, 47117453], [47118739, 47118862], [47119603, 47119739], [47120789, 47120912], [47121328, 47121448], [47122352, 47122427], [47123251, 47123383], [47123621, 47123735], [47126713, 47133012]]	[[47075107, 47075282], [47076470, 47076531], [47102979, 47103028], [47103827, 47103879], [47109271, 47109335], [47115529, 47115811], [47117318, 47117453], [47118739, 47118862], [47119603, 47119739], [47120789, 47120912], [47121328, 47121448], [47122352, 47122427], [47123251, 47123383], [47123621, 47123735], [47126713, 47126806]]
ENST00000510023	[[47074847, 47075282], [47076470, 47076531], [47081962, 47082220]]	None
ENST00000431824	[[47075107, 47075282], [47076470, 47076531], [47102979, 47103028], [47103827, 47103879], [47109271, 47109335], [47118739, 47118862], [47119603, 47119739], [47120789, 47120912], [47121328, 47121448], [47122352, 47122427], [47123251, 47123383], [47123621, 47123735], [47126713, 47126806]]	[[47075107, 47075282], [47076470, 47076531], [47102979, 47103028], [47103827, 47103879], [47109271, 47109335], [47118739, 47118862], [47119603, 47119739], [47120789, 47120912], [47121328, 47121448], [47122352, 47122427], [47123251, 47123383], [47123621, 47123735], [47126713, 47126806]]
ENST00000515586	[[47075124, 47075282], [47076470, 47076531], [47102979, 47103028], [47103827, 47103879], [47109271, 47109335], [47113911, 47114295]]	None
ENST00000499130	[[47091278, 47091397], [47102979, 47103028], [47103827, 47103879], [47109271, 47109335], [47113911, 47114195]]	None
ENST00000505562	[[47103753, 47103879], [47109271, 47109335], [47115529, 47115800]]	None
NM_001160423	[[47074773, 47075282], [47076470, 47076531], [47102979, 47103028], [47103827, 47103879], [47109271, 47109335], [47118739, 47118862], [47119603, 47119739], [47120789, 47120912], [47121328, 47121448], [47122352, 47122427], [47123251, 47123383], [47123621, 47123735], [47126713, 47133507]]	[[47075107, 47075282], [47076470, 47076531], [47102979, 47103028], [47103827, 47103879], [47109271, 47109335], [47118739, 47118862], [47119603, 47119739], [47120789, 47120912], [47121328, 47121448], [47122352, 47122427], [47123251, 47123383], [47123621, 47123735], [47126713, 47126806]]
NM_006546	[[47074773, 47075282], [47076470, 47076531], [47102979, 47103028], [47103827, 47103879], [47109271, 47109335], [47115529, 47115811], [47117318, 47117453], [47118739, 47118862], [47119603, 47119739], [47120789, 47120912], [47121328, 47121448], [47122352, 47122427], [47123251, 47123383], [47123621, 47123735], [47126713, 47133507]]	[[47075107, 47075282], [47076470, 47076531], [47102979, 47103028], [47103827, 47103879], [47109271, 47109335], [47115529, 47115811], [47117318, 47117453], [47118739, 47118862], [47119603, 47119739], [47120789, 47120912], [47121328, 47121448], [47122352, 47122427], [47123251, 47123383], [47123621, 47123735], [47126713, 47126806]]

Promoter

Chrom	Start	End	Description
chr17	47074540	47074570	CAGE_peak_2_at_IGF2BP1_5end
chr17	47074581	47074597	CAGE_peak_5_at_IGF2BP1_5end
chr17	47074740	47074752	CAGE_peak_4_at_IGF2BP1_5end
chr17	47074758	47074787	CAGE_peak_3_at_IGF2BP1_5end
chr17	47074793	47074870	CAGE_peak_1_at_IGF2BP1_5end
chr17	47074887	47074898	CAGE_peak_6_at_IGF2BP1_5end
chr17	47075023	47075032	CAGE_peak_8_at_IGF2BP1_5end
chr17	47115634	47115670	CAGE_peak_7_at_IGF2BP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I049031	49031631	49032828	0.93	[{'connected_gene': 'PRAC1', 'score': 10.58}, {'connected_gene': 'PRAC2', 'score': 10.58}, {'connected_gene': 'GNGT2', 'score': 9.69}, {'connected_gene': 'ABI3', 'score': 9.69}, {'connected_gene': 'ATP5MC1', 'score': 7.14}, {'connected_gene': 'GC17P049038', 'score': 0.77}, {'connected_gene': 'ENSG00000255851', 'score': 0.39}, {'connected_gene': 'IGF2BP1', 'score': 0.29}]
chr17	GH17I048746	48746591	48746949	0.49	[{'connected_gene': 'PRAC1', 'score': 16.21}, {'connected_gene': 'IGF2BP1', 'score': 2.03}, {'connected_gene': 'HOXB2', 'score': 1.55}, {'connected_gene': 'HOXB4', 'score': 1.47}, {'connected_gene': 'LOC105371812', 'score': 0.44}, {'connected_gene': 'LOC105371811', 'score': 0.39}]
chr17	GH17I048970	48970470	48974154	1.54	[{'connected_gene': 'UBE2Z', 'score': 12.67}, {'connected_gene': 'ENSG00000262837', 'score': 11.75}, {'connected_gene': 'TTLL6', 'score': 5.29}, {'connected_gene': 'PHOSPHO1', 'score': 4.53}, {'connected_gene': 'IGF2BP1', 'score': 1.85}, {'connected_gene': 'SNF8', 'score': 1.58}, {'connected_gene': 'GIP', 'score': 0.77}]
chr17	GH17I048968	48968585	48968644	0.61	[{'connected_gene': 'GIP', 'score': 550.77}, {'connected_gene': 'IGF2BP1', 'score': 0.31}]
chr17	GH17I049020	49020215	49023774	1.44	[{'connected_gene': 'SNF8', 'score': 16.66}, {'connected_gene': 'PRAC1', 'score': 11.79}, {'connected_gene': 'RNU1-42P', 'score': 11.38}, {'connected_gene': 'ENSG00000230532', 'score': 11.35}, {'connected_gene': 'ENSG00000238804', 'score': 11.12}, {'connected_gene': 'PRAC2', 'score': 9.99}, {'connected_gene': 'HOXB-AS4', 'score': 8.94}, {'connected_gene': 'HOXB9', 'score': 8.94}, {'connected_gene': 'IGF2BP1', 'score': 2.28}, {'connected_gene': 'ENSG00000255851', 'score': 0.77}, {'connected_gene': 'GC17P049038', 'score': 0.39}]
chr17	GH17I048992	48992116	48993109	0.49	[{'connected_gene': 'SNF8', 'score': 5.68}, {'connected_gene': 'IGF2BP1', 'score': 0.77}, {'connected_gene': 'GIP', 'score': 0.34}]
chr17	GH17I049025	49025970	49027326	0.57	[{'connected_gene': 'RNU1-42P', 'score': 11.37}, {'connected_gene': 'SNF8', 'score': 11.37}, {'connected_gene': 'ENSG00000230532', 'score': 11.35}, {'connected_gene': 'ENSG00000238804', 'score': 11.12}, {'connected_gene': 'PRAC2', 'score': 9.99}, {'connected_gene': 'PRAC1', 'score': 9.99}, {'connected_gene': 'HOXB-AS4', 'score': 8.94}, {'connected_gene': 'HOXB9', 'score': 8.94}, {'connected_gene': 'ATP5MC1', 'score': 7.3}, {'connected_gene': 'GC17P049038', 'score': 0.44}, {'connected_gene': 'ENSG00000255851', 'score': 0.44}, {'connected_gene': 'IGF2BP1', 'score': 0.31}]
chr17	GH17I048994	48994033	49004862	2.5	[{'connected_gene': 'IGF2BP1', 'score': 556.97}, {'connected_gene': 'ENSG00000250838', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 66.86}, {'connected_gene': 'UBE2Z', 'score': 49.31}, {'connected_gene': 'FAM117A', 'score': 22.82}, {'connected_gene': 'FLJ45513', 'score': 19.26}, {'connected_gene': 'ENSG00000238804', 'score': 11.79}, {'connected_gene': 'PRAC2', 'score': 10.75}, {'connected_gene': 'PRAC1', 'score': 10.75}, {'connected_gene': 'HOXB13', 'score': 10.6}, {'connected_gene': 'CALCOCO2', 'score': 10.38}, {'connected_gene': 'NXPH3', 'score': 9.76}, {'connected_gene': 'ENSG00000263412', 'score': 9.67}, {'connected_gene': 'ENSG00000251461', 'score': 5.43}, {'connected_gene': 'ATP5MC1', 'score': 5.38}]
chr17	GH17I048990	48990801	48991000	0.84	[{'connected_gene': 'IGF2BP1', 'score': 0.44}, {'connected_gene': 'GIP', 'score': 0.34}]
chr17	GH17I049011	49011532	49017474	1.8	[{'connected_gene': 'ENSG00000251461', 'score': 550.77}, {'connected_gene': 'ENSG00000238804', 'score': 11.48}, {'connected_gene': 'PRAC2', 'score': 10.14}, {'connected_gene': 'PRAC1', 'score': 10.14}, {'connected_gene': 'HOXB9', 'score': 8.77}, {'connected_gene': 'HOXB-AS4', 'score': 8.77}, {'connected_gene': 'IGF2BP1', 'score': 7.86}, {'connected_gene': 'ATP5MC1', 'score': 6.26}, {'connected_gene': 'UBE2Z', 'score': 5.95}, {'connected_gene': 'SNF8', 'score': 4.81}, {'connected_gene': 'ENSG00000255851', 'score': 0.77}]
chr17	GH17I049018	49018099	49019373	0.58	[{'connected_gene': 'ENSG00000255851', 'score': 550.77}, {'connected_gene': 'ENSG00000238804', 'score': 11.46}, {'connected_gene': 'PRAC2', 'score': 9.97}, {'connected_gene': 'PRAC1', 'score': 9.97}, {'connected_gene': 'GC17P049038', 'score': 0.37}, {'connected_gene': 'IGF2BP1', 'score': 0.34}]
chr17	GH17I049055	49055279	49055428	0.43	[{'connected_gene': 'GC17P049052', 'score': 0.77}, {'connected_gene': 'B4GALNT2P1', 'score': 0.29}, {'connected_gene': 'IGF2BP1', 'score': 0.22}]
chr17	GH17I049035	49035309	49036708	1.14	[{'connected_gene': 'GC17P049038', 'score': 550.77}, {'connected_gene': 'RNU6-826P', 'score': 550.77}, {'connected_gene': 'ENSG00000251550', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 14.07}, {'connected_gene': 'UBE2Z', 'score': 11.1}, {'connected_gene': 'ENSG00000263412', 'score': 10.37}, {'connected_gene': 'IGF2BP1', 'score': 7.58}, {'connected_gene': 'ENSG00000255851', 'score': 0.37}]
chr17	GH17I049053	49053515	49054032	0.43	[{'connected_gene': 'GC17P049052', 'score': 550.77}, {'connected_gene': 'ENSG00000238804', 'score': 10.61}, {'connected_gene': 'HOXB13', 'score': 9.73}, {'connected_gene': 'B4GALNT2P1', 'score': 0.29}, {'connected_gene': 'IGF2BP1', 'score': 0.22}]