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
ENST00000264036	[[119179240, 119180625], [119181058, 119181176], [119181465, 119181613], [119181799, 119181895], [119181989, 119182131], [119182239, 119182361], [119182517, 119182659], [119182761, 119182880], [119182975, 119183138], [119183236, 119183358], [119183479, 119183659], [119185198, 119185286], [119185388, 119185459], [119185542, 119185750], [119185848, 119185973], [119187744, 119187826]]	[[119180595, 119180625], [119181058, 119181176], [119181465, 119181613], [119181799, 119181895], [119181989, 119182131], [119182239, 119182361], [119182517, 119182659], [119182761, 119182880], [119182975, 119183138], [119183236, 119183358], [119183479, 119183659], [119185198, 119185286], [119185388, 119185459], [119185542, 119185750], [119185848, 119185973], [119187744, 119187811]]
ENST00000528533	[[119179681, 119180625], [119181058, 119181176], [119181465, 119182131], [119182239, 119182361], [119182517, 119182659], [119182761, 119182880], [119182975, 119183138], [119183236, 119183358], [119183479, 119183659], [119185198, 119185286], [119185388, 119185459], [119185542, 119185750], [119185848, 119185973], [119187744, 119187840]]	None
ENST00000392814	[[119179695, 119180215], [119180332, 119180625], [119181058, 119181176], [119181465, 119181895], [119181989, 119182131], [119182239, 119182361], [119182517, 119182659], [119182761, 119182880], [119182975, 119183138], [119183236, 119183358], [119183479, 119184795]]	[[119181707, 119181895], [119181989, 119182131], [119182239, 119182361], [119182517, 119182659], [119182761, 119182880], [119182975, 119183138], [119183236, 119183358], [119183479, 119184065]]
ENST00000525586	[[119179695, 119180215], [119180332, 119180625], [119181058, 119181176], [119181465, 119181895], [119181989, 119182131], [119182239, 119182361], [119182517, 119182659], [119182761, 119182880], [119182975, 119183138], [119183236, 119183358], [119183479, 119185286], [119185388, 119185459], [119185542, 119185750], [119185848, 119185973], [119188422, 119188625], [119188807, 119189087]]	None
ENST00000524940	[[119180596, 119180625], [119181465, 119181613], [119181799, 119181828]]	None
ENST00000528976	[[119180696, 119180954], [119181058, 119181176], [119181465, 119181613], [119181799, 119181895], [119181989, 119182091]]	None
ENST00000530706	[[119183581, 119183659], [119185198, 119185286], [119185388, 119185459], [119185542, 119185750], [119187744, 119187840]]	None
ENST00000529257	[[119185211, 119185286], [119185388, 119185459], [119185542, 119185750], [119185848, 119185973], [119186692, 119186776]]	None
ENST00000529295	[[119185214, 119185286], [119185388, 119185459], [119185542, 119185750], [119185848, 119185973], [119187271, 119187552]]	None
ENST00000530006	[[119185325, 119185459], [119185542, 119185750], [119185848, 119185973], [119187744, 119187839]]	None
ENST00000530937	[[119185394, 119185459], [119185542, 119185750], [119185848, 119185973], [119186132, 119186226], [119187744, 119187840]]	None
ENST00000528502	[[119185401, 119185459], [119185542, 119185741], [119185848, 119185973], [119187744, 119187840]]	None
ENST00000529686	[[119185403, 119185459], [119185542, 119185750], [119185848, 119185973], [119186692, 119186770], [119187744, 119187840]]	None
ENST00000526190	[[119185431, 119185459], [119185542, 119185973], [119187744, 119187840]]	None
ENST00000525555	[[119185579, 119185750], [119185848, 119185973], [119186692, 119186867], [119187744, 119187840]]	None
ENST00000534522	[[119185596, 119185750], [119185848, 119185973], [119188422, 119188625], [119189514, 119189601]]	None
ENST00000530144	[[119185602, 119185750], [119185848, 119185973], [119188422, 119188625], [119191798, 119192231]]	None
ENST00000526992	[[119185699, 119185750], [119185848, 119185973], [119186132, 119186530]]	None
NM_006500	[[119179233, 119180625], [119181058, 119181176], [119181465, 119181613], [119181799, 119181895], [119181989, 119182131], [119182239, 119182361], [119182517, 119182659], [119182761, 119182880], [119182975, 119183138], [119183236, 119183358], [119183479, 119183659], [119185198, 119185286], [119185388, 119185459], [119185542, 119185750], [119185848, 119185973], [119187744, 119187840]]	[[119180595, 119180625], [119181058, 119181176], [119181465, 119181613], [119181799, 119181895], [119181989, 119182131], [119182239, 119182361], [119182517, 119182659], [119182761, 119182880], [119182975, 119183138], [119183236, 119183358], [119183479, 119183659], [119185198, 119185286], [119185388, 119185459], [119185542, 119185750], [119185848, 119185973], [119187744, 119187811]]

Promoter

Chrom	Start	End	Description
chr11	119182586	119182605	CAGE_peak_2_at_MCAM_5end
chr11	119187829	119187847	CAGE_peak_1_at_MCAM_5end
chr11	119188110	119188132	CAGE_peak_4_at_MCAM_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I119257	119257775	119261168	0.72	[{'connected_gene': 'CBL', 'score': 13.9}, {'connected_gene': 'PDZD3', 'score': 10.93}, {'connected_gene': 'NLRX1', 'score': 10.91}, {'connected_gene': 'HMBS', 'score': 10.87}, {'connected_gene': 'ABCG4', 'score': 10.74}, {'connected_gene': 'C1QTNF5', 'score': 10.66}, {'connected_gene': 'MFRP', 'score': 10.66}, {'connected_gene': 'DPAGT1', 'score': 10.49}, {'connected_gene': 'C2CD2L', 'score': 10.49}, {'connected_gene': 'H2AFX', 'score': 10.22}, {'connected_gene': 'HINFP', 'score': 10.14}, {'connected_gene': 'MCAM', 'score': 8.81}, {'connected_gene': 'IFT46', 'score': 5.49}, {'connected_gene': 'GC11M119252', 'score': 0.44}, {'connected_gene': 'GC11M119278', 'score': 0.34}]
chr11	GH11I119310	119310699	119310930	0.4	[{'connected_gene': 'RNF26', 'score': 12.45}, {'connected_gene': 'ENSG00000245385', 'score': 12.42}, {'connected_gene': 'C1QTNF5', 'score': 11.68}, {'connected_gene': 'MFRP', 'score': 11.68}, {'connected_gene': 'ABCG4', 'score': 10.91}, {'connected_gene': 'PDZD3', 'score': 10.76}, {'connected_gene': 'NLRX1', 'score': 10.7}, {'connected_gene': 'MIR6756', 'score': 0.77}, {'connected_gene': 'PIR40709', 'score': 0.77}, {'connected_gene': 'MCAM', 'score': 0.39}, {'connected_gene': 'CBL', 'score': 0.15}]
chr11	GH11I119314	119314720	119322898	2.24	[{'connected_gene': 'MCAM', 'score': 550.77}, {'connected_gene': 'RNF26', 'score': 21.81}, {'connected_gene': 'CBL', 'score': 7.09}, {'connected_gene': 'IFT46', 'score': 6.27}, {'connected_gene': 'RPS25', 'score': 4.81}, {'connected_gene': 'ENSG00000271751', 'score': 4.79}, {'connected_gene': 'GC11M119321', 'score': 0.77}, {'connected_gene': 'MIR6756', 'score': 0.44}]
chr11	GH11I119217	119217321	119219347	0.93	[{'connected_gene': 'HINFP', 'score': 27.02}, {'connected_gene': 'NLRX1', 'score': 20.07}, {'connected_gene': 'CBL', 'score': 19.93}, {'connected_gene': 'PDZD3', 'score': 11.62}, {'connected_gene': 'ABCG4', 'score': 10.83}, {'connected_gene': 'DPAGT1', 'score': 10.54}, {'connected_gene': 'C2CD2L', 'score': 10.54}, {'connected_gene': 'H2AFX', 'score': 10.53}, {'connected_gene': 'HMBS', 'score': 10.52}, {'connected_gene': 'MFRP', 'score': 10.28}, {'connected_gene': 'C1QTNF5', 'score': 10.28}, {'connected_gene': 'MCAM', 'score': 9.16}, {'connected_gene': 'ENSG00000271751', 'score': 5.29}, {'connected_gene': 'CCDC153', 'score': 0.39}, {'connected_gene': 'GC11M119252', 'score': 0.29}]
chr11	GH11I119312	119312015	119313245	0.2	[{'connected_gene': 'MIR6756', 'score': 550.77}, {'connected_gene': 'RNF26', 'score': 12.45}, {'connected_gene': 'ENSG00000245385', 'score': 12.45}, {'connected_gene': 'C1QTNF5', 'score': 11.7}, {'connected_gene': 'MFRP', 'score': 11.7}, {'connected_gene': 'ABCG4', 'score': 10.91}, {'connected_gene': 'PDZD3', 'score': 10.76}, {'connected_gene': 'NLRX1', 'score': 10.7}, {'connected_gene': 'PIR40709', 'score': 0.44}, {'connected_gene': 'MCAM', 'score': 0.44}, {'connected_gene': 'CBL', 'score': 0.14}]
chr11	GH11I119297	119297402	119300509	0.63	[{'connected_gene': 'GC11P119299', 'score': 550.77}, {'connected_gene': 'GC11P119300', 'score': 550.77}, {'connected_gene': 'CBL', 'score': 20.94}, {'connected_gene': 'NLRX1', 'score': 11.15}, {'connected_gene': 'ABCG4', 'score': 10.89}, {'connected_gene': 'C1QTNF5', 'score': 10.84}, {'connected_gene': 'MFRP', 'score': 10.84}, {'connected_gene': 'MCAM', 'score': 9.25}, {'connected_gene': 'HMBS', 'score': 6.58}, {'connected_gene': 'IFT46', 'score': 5.49}, {'connected_gene': 'USP2', 'score': 4.99}, {'connected_gene': 'RNU6-262P', 'score': 0.44}]
chr11	GH11I119300	119300917	119302236	0.4	[{'connected_gene': 'GC11P119399', 'score': 550.77}, {'connected_gene': 'PIR32834', 'score': 550.77}, {'connected_gene': 'PIR58080', 'score': 550.77}, {'connected_gene': 'GC11P119404', 'score': 550.77}, {'connected_gene': 'PIR50609', 'score': 550.77}, {'connected_gene': 'GC11P119410', 'score': 550.77}, {'connected_gene': 'GC11P119408', 'score': 550.77}, {'connected_gene': 'GC11P119407', 'score': 550.77}, {'connected_gene': 'PIR38568', 'score': 550.77}, {'connected_gene': 'PIR53174', 'score': 550.77}, {'connected_gene': 'PIR41991', 'score': 550.77}, {'connected_gene': 'PIR56712', 'score': 550.77}, {'connected_gene': 'PIR38260', 'score': 550.77}, {'connected_gene': 'GC11P119299', 'score': 550.77}, {'connected_gene': 'GC11P119300', 'score': 550.77}, {'connected_gene': 'GC11P119409', 'score': 550.77}, {'connected_gene': 'MFRP', 'score': 11.12}, {'connected_gene': 'C1QTNF5', 'score': 11.12}, {'connected_gene': 'NLRX1', 'score': 10.63}, {'connected_gene': 'MCAM', 'score': 9.24}, {'connected_gene': 'CBL', 'score': 0.15}]
chr11	GH11I119308	119308050	119309102	0.38	[{'connected_gene': 'PIR40709', 'score': 550.77}, {'connected_gene': 'RNF26', 'score': 12.42}, {'connected_gene': 'ENSG00000245385', 'score': 12.42}, {'connected_gene': 'C1QTNF5', 'score': 11.68}, {'connected_gene': 'MFRP', 'score': 11.68}, {'connected_gene': 'ABCG4', 'score': 10.92}, {'connected_gene': 'PDZD3', 'score': 10.75}, {'connected_gene': 'NLRX1', 'score': 10.71}, {'connected_gene': 'MCAM', 'score': 7.67}, {'connected_gene': 'CCDC153', 'score': 6.76}, {'connected_gene': 'MIR6756', 'score': 0.77}, {'connected_gene': 'CBL', 'score': 0.15}]
chr11	GH11I119305	119305003	119307697	1	[{'connected_gene': 'PIR37472', 'score': 550.77}, {'connected_gene': 'PIR40709', 'score': 550.77}, {'connected_gene': 'GC11P119412', 'score': 550.77}, {'connected_gene': 'HINFP', 'score': 15.57}, {'connected_gene': 'RNF26', 'score': 12.07}, {'connected_gene': 'ENSG00000245385', 'score': 12.05}, {'connected_gene': 'C1QTNF5', 'score': 11.02}, {'connected_gene': 'MFRP', 'score': 11.02}, {'connected_gene': 'NLRX1', 'score': 10.87}, {'connected_gene': 'ABCG4', 'score': 10.53}, {'connected_gene': 'DPAGT1', 'score': 10.18}, {'connected_gene': 'C2CD2L', 'score': 10.18}, {'connected_gene': 'MCAM', 'score': 9.3}, {'connected_gene': 'RN7SL688P', 'score': 9.11}, {'connected_gene': 'BCL9L', 'score': 9.11}, {'connected_gene': 'UPK2', 'score': 9.11}, {'connected_gene': 'CBL', 'score': 0.15}]