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
ENST00000530167	[[118964563, 118966177]]	[[118965672, 118966104]]
ENST00000375167	[[118964588, 118964971], [118965169, 118966159]]	[[118965672, 118966104]]
NM_002105	[[118964583, 118966177]]	[[118965672, 118966104]]

Promoter

Chrom	Start	End	Description
chr11	118965662	118965737	CAGE_peak_2_at_H2AFX_5end
chr11	118966167	118966182	CAGE_peak_1_at_H2AFX_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I119100	119100196	119104138	2.07	[{'connected_gene': 'C2CD2L', 'score': 556.15}, {'connected_gene': 'DPAGT1', 'score': 550.44}, {'connected_gene': 'HINFP', 'score': 35.42}, {'connected_gene': 'NLRX1', 'score': 18.03}, {'connected_gene': 'ABCG4', 'score': 10.51}, {'connected_gene': 'HMBS', 'score': 6.47}, {'connected_gene': 'H2AFX', 'score': 0.44}]
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	GH11I118904	118904309	118905535	0.2	[{'connected_gene': 'UPK2', 'score': 12.33}, {'connected_gene': 'FOXR1', 'score': 12.19}, {'connected_gene': 'ENSG00000222529', 'score': 12.19}, {'connected_gene': 'CCDC84', 'score': 11.35}, {'connected_gene': 'ENSG00000255121', 'score': 11.34}, {'connected_gene': 'HMBS', 'score': 10.18}, {'connected_gene': 'H2AFX', 'score': 10.17}, {'connected_gene': 'C2CD2L', 'score': 10.16}, {'connected_gene': 'DPAGT1', 'score': 10.16}, {'connected_gene': 'TRAPPC4', 'score': 4.79}, {'connected_gene': 'GC11P118898', 'score': 0.44}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'BCL9L', 'score': 0.34}]
chr11	GH11I118903	118903103	118904272	0.2	[{'connected_gene': 'UPK2', 'score': 12.33}, {'connected_gene': 'FOXR1', 'score': 12.19}, {'connected_gene': 'ENSG00000222529', 'score': 12.19}, {'connected_gene': 'CCDC84', 'score': 11.34}, {'connected_gene': 'ENSG00000255121', 'score': 11.34}, {'connected_gene': 'HMBS', 'score': 10.17}, {'connected_gene': 'H2AFX', 'score': 10.17}, {'connected_gene': 'C2CD2L', 'score': 10.16}, {'connected_gene': 'DPAGT1', 'score': 10.16}, {'connected_gene': 'GC11P118898', 'score': 0.44}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'BCL9L', 'score': 0.34}]
chr11	GH11I118872	118872208	118873207	1.28	[{'connected_gene': 'UPK2', 'score': 11.27}, {'connected_gene': 'BCL9L', 'score': 11.03}, {'connected_gene': 'RN7SL688P', 'score': 11.02}, {'connected_gene': 'PHLDB1', 'score': 9.36}, {'connected_gene': 'TREH', 'score': 6.26}, {'connected_gene': 'CXCR5', 'score': 4.62}, {'connected_gene': 'ATP5MG', 'score': 4.06}, {'connected_gene': 'KMT2A', 'score': 3.98}, {'connected_gene': 'CCDC84', 'score': 3.96}, {'connected_gene': 'RPS25', 'score': 2.93}, {'connected_gene': 'DDX6', 'score': 2.47}, {'connected_gene': 'VPS11', 'score': 2.46}, {'connected_gene': 'H2AFX', 'score': 1.47}, {'connected_gene': 'ENSG00000201535', 'score': 0.28}]
chr11	GH11I119366	119366354	119372784	1.63	[{'connected_gene': 'THY1', 'score': 21.83}, {'connected_gene': 'C1QTNF5', 'score': 13.53}, {'connected_gene': 'ABCG4', 'score': 12.67}, {'connected_gene': 'MFRP', 'score': 12.31}, {'connected_gene': 'USP2', 'score': 10.41}, {'connected_gene': 'NLRX1', 'score': 10.12}, {'connected_gene': 'H2AFX', 'score': 5.28}, {'connected_gene': 'ENSG00000254740', 'score': 0.77}, {'connected_gene': 'GC11M119369', 'score': 0.77}]
chr11	GH11I118587	118587489	118588736	0.38	[{'connected_gene': 'IFT46', 'score': 25.78}, {'connected_gene': 'LOC101929089', 'score': 10.43}, {'connected_gene': 'TMEM25', 'score': 10.43}, {'connected_gene': 'TTC36', 'score': 9.96}, {'connected_gene': 'KMT2A', 'score': 9.68}, {'connected_gene': 'ENSG00000255384', 'score': 9.68}, {'connected_gene': 'HMBS', 'score': 9.37}, {'connected_gene': 'C2CD2L', 'score': 9.36}, {'connected_gene': 'H2AFX', 'score': 9.36}, {'connected_gene': 'DPAGT1', 'score': 9.36}, {'connected_gene': 'RPL5P30', 'score': 5.31}, {'connected_gene': 'GC11P118595', 'score': 0.44}, {'connected_gene': 'ARCN1', 'score': 0.37}]
chr11	GH11I119066	119066571	119068801	2.06	[{'connected_gene': 'VPS11', 'score': 587.92}, {'connected_gene': 'ENSG00000272186', 'score': 550.77}, {'connected_gene': 'DPAGT1', 'score': 24.02}, {'connected_gene': 'HMBS', 'score': 16.77}, {'connected_gene': 'ARCN1', 'score': 13.31}, {'connected_gene': 'H2AFX', 'score': 12.96}, {'connected_gene': 'C2CD2L', 'score': 12.94}, {'connected_gene': 'KMT2A', 'score': 12.53}, {'connected_gene': 'ENSG00000254909', 'score': 12.38}, {'connected_gene': 'SLC37A4', 'score': 12.37}, {'connected_gene': 'RPS25', 'score': 12.34}, {'connected_gene': 'TRAPPC4', 'score': 12.34}, {'connected_gene': 'UBE4A', 'score': 11.86}, {'connected_gene': 'RPL5P30', 'score': 11.19}, {'connected_gene': 'RNF26', 'score': 11.13}, {'connected_gene': 'RPL23AP64', 'score': 11.11}, {'connected_gene': 'HINFP', 'score': 10.95}, {'connected_gene': 'BCL9L', 'score': 10.64}, {'connected_gene': 'NLRX1', 'score': 10.4}, {'connected_gene': 'FOXR1', 'score': 10.18}, {'connected_gene': 'ENSG00000222529', 'score': 10.18}, {'connected_gene': 'UPK2', 'score': 10.13}, {'connected_gene': 'ENSG00000271751', 'score': 5.71}]
chr11	GH11I119062	119062930	119063059	0.74	[{'connected_gene': 'HMBS', 'score': 12.99}, {'connected_gene': 'H2AFX', 'score': 12.94}, {'connected_gene': 'C2CD2L', 'score': 12.93}, {'connected_gene': 'DPAGT1', 'score': 12.9}, {'connected_gene': 'SLC37A4', 'score': 12.39}, {'connected_gene': 'RPS25', 'score': 12.36}, {'connected_gene': 'TRAPPC4', 'score': 12.36}, {'connected_gene': 'HINFP', 'score': 10.94}, {'connected_gene': 'NLRX1', 'score': 10.4}, {'connected_gene': 'FOXR1', 'score': 10.18}, {'connected_gene': 'ENSG00000222529', 'score': 10.18}, {'connected_gene': 'UPK2', 'score': 10.14}, {'connected_gene': 'ENSG00000271751', 'score': 0.77}, {'connected_gene': 'GC11P119057', 'score': 0.44}]
chr11	GH11I119090	119090741	119096602	2.5	[{'connected_gene': 'H2AFX', 'score': 550.77}, {'connected_gene': 'GC11M119097', 'score': 550.77}, {'connected_gene': 'KMT2A', 'score': 73.28}, {'connected_gene': 'HINFP', 'score': 65.6}, {'connected_gene': 'UBE4A', 'score': 58.73}, {'connected_gene': 'ARCN1', 'score': 52.05}, {'connected_gene': 'BCL9L', 'score': 50.4}, {'connected_gene': 'RPL5P30', 'score': 49.27}, {'connected_gene': 'ENSG00000254909', 'score': 39.2}, {'connected_gene': 'CCDC84', 'score': 38.84}, {'connected_gene': 'VPS11', 'score': 37.04}, {'connected_gene': 'IFT46', 'score': 36.17}, {'connected_gene': 'RPL23AP64', 'score': 33.81}, {'connected_gene': 'ENSG00000254428', 'score': 32.02}, {'connected_gene': 'RPS25', 'score': 30.38}, {'connected_gene': 'DPAGT1', 'score': 29.33}, {'connected_gene': 'RNF26', 'score': 22.29}, {'connected_gene': 'C2CD2L', 'score': 15.2}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'HMBS', 'score': 12.16}, {'connected_gene': 'ENSG00000245869', 'score': 11.94}, {'connected_gene': 'DDX6', 'score': 11.24}, {'connected_gene': 'ENSG00000271751', 'score': 6.77}]
chr11	GH11I118906	118906480	118931105	2.88	[{'connected_gene': 'BCL9L', 'score': 577.01}, {'connected_gene': 'DPAGT1', 'score': 32.47}, {'connected_gene': 'UBE4A', 'score': 28.16}, {'connected_gene': 'ENSG00000254909', 'score': 28.08}, {'connected_gene': 'RPL23AP64', 'score': 25.24}, {'connected_gene': 'ARCN1', 'score': 24.99}, {'connected_gene': 'ENSG00000254428', 'score': 23.08}, {'connected_gene': 'RNF26', 'score': 19.84}, {'connected_gene': 'CCDC84', 'score': 16.8}, {'connected_gene': 'KMT2A', 'score': 15.66}, {'connected_gene': 'CXCR5', 'score': 15.27}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'DDX6', 'score': 13.42}, {'connected_gene': 'RPS25', 'score': 13.01}, {'connected_gene': 'VPS11', 'score': 12.54}, {'connected_gene': 'HMBS', 'score': 12.4}, {'connected_gene': 'ENSG00000222529', 'score': 12.22}, {'connected_gene': 'FOXR1', 'score': 12.22}, {'connected_gene': 'C2CD2L', 'score': 12.12}, {'connected_gene': 'ENSG00000255121', 'score': 11.37}, {'connected_gene': 'ENSG00000245869', 'score': 11.36}, {'connected_gene': 'JAML', 'score': 10.87}, {'connected_gene': 'HINFP', 'score': 10.27}, {'connected_gene': 'H2AFX', 'score': 10.24}, {'connected_gene': 'TRAPPC4', 'score': 9.9}, {'connected_gene': 'RPL5P30', 'score': 9.78}, {'connected_gene': 'UPK2', 'score': 3.43}, {'connected_gene': 'HYOU1', 'score': 2.91}, {'connected_gene': 'SLC37A4', 'score': 2.67}, {'connected_gene': 'PHLDB1', 'score': 2.39}, {'connected_gene': 'CBL', 'score': 2.38}, {'connected_gene': 'CCDC153', 'score': 1.67}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'GC11P118898', 'score': 0.34}]
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	GH11I119125	119125208	119127183	0.43	[{'connected_gene': 'HINFP', 'score': 44.15}, {'connected_gene': 'HMBS', 'score': 11.94}, {'connected_gene': 'VPS11', 'score': 11.9}, {'connected_gene': 'ABCG4', 'score': 11.88}, {'connected_gene': 'NLRX1', 'score': 11.73}, {'connected_gene': 'PDZD3', 'score': 11.19}, {'connected_gene': 'C2CD2L', 'score': 11.13}, {'connected_gene': 'H2AFX', 'score': 11.09}, {'connected_gene': 'PIR55037', 'score': 0.44}]
chr11	GH11I119262	119262137	119264399	0.85	[{'connected_gene': 'RNU6-262P', 'score': 12.19}, {'connected_gene': 'NLRX1', 'score': 11.09}, {'connected_gene': 'PDZD3', 'score': 11.0}, {'connected_gene': 'ABCG4', 'score': 10.95}, {'connected_gene': 'HINFP', 'score': 10.7}, {'connected_gene': 'DPAGT1', 'score': 10.31}, {'connected_gene': 'H2AFX', 'score': 10.31}, {'connected_gene': 'C2CD2L', 'score': 10.3}, {'connected_gene': 'HMBS', 'score': 10.3}, {'connected_gene': 'GC11M119252', 'score': 0.39}, {'connected_gene': 'GC11M119278', 'score': 0.37}, {'connected_gene': 'CBL', 'score': 0.22}]
chr11	GH11I119240	119240862	119241579	0.2	[{'connected_gene': 'RNU6-262P', 'score': 13.08}, {'connected_gene': 'NLRX1', 'score': 11.32}, {'connected_gene': 'HINFP', 'score': 10.82}, {'connected_gene': 'PDZD3', 'score': 10.75}, {'connected_gene': 'ABCG4', 'score': 10.64}, {'connected_gene': 'C2CD2L', 'score': 10.39}, {'connected_gene': 'DPAGT1', 'score': 10.39}, {'connected_gene': 'H2AFX', 'score': 10.15}, {'connected_gene': 'HMBS', 'score': 10.14}, {'connected_gene': 'GC11M119252', 'score': 0.39}, {'connected_gene': 'CBL', 'score': 0.29}, {'connected_gene': 'CCDC153', 'score': 0.29}]
chr11	GH11I119284	119284491	119284640	0.56	[{'connected_gene': 'PIR36750', 'score': 550.77}, {'connected_gene': 'GC11P119286', 'score': 550.77}, {'connected_gene': 'ABCG4', 'score': 11.52}, {'connected_gene': 'NLRX1', 'score': 10.47}, {'connected_gene': 'DPAGT1', 'score': 10.44}, {'connected_gene': 'C2CD2L', 'score': 10.44}, {'connected_gene': 'H2AFX', 'score': 10.43}, {'connected_gene': 'HMBS', 'score': 10.43}, {'connected_gene': 'GC11M119278', 'score': 0.77}, {'connected_gene': 'CBL', 'score': 0.18}]
chr11	GH11I119285	119284691	119284880	0.62	[{'connected_gene': 'PIR36750', 'score': 550.77}, {'connected_gene': 'GC11P119286', 'score': 550.77}, {'connected_gene': 'ABCG4', 'score': 11.52}, {'connected_gene': 'NLRX1', 'score': 10.47}, {'connected_gene': 'DPAGT1', 'score': 10.44}, {'connected_gene': 'C2CD2L', 'score': 10.44}, {'connected_gene': 'H2AFX', 'score': 10.43}, {'connected_gene': 'HMBS', 'score': 10.43}, {'connected_gene': 'GC11M119278', 'score': 0.77}, {'connected_gene': 'CBL', 'score': 0.18}]
chr11	GH11I119065	119065530	119065679	0.75	[{'connected_gene': 'ENSG00000271751', 'score': 550.77}, {'connected_gene': 'H2AFX', 'score': 12.96}, {'connected_gene': 'C2CD2L', 'score': 12.93}, {'connected_gene': 'DPAGT1', 'score': 12.91}, {'connected_gene': 'SLC37A4', 'score': 12.39}, {'connected_gene': 'RPS25', 'score': 12.34}, {'connected_gene': 'TRAPPC4', 'score': 12.34}, {'connected_gene': 'HINFP', 'score': 10.94}, {'connected_gene': 'NLRX1', 'score': 10.4}, {'connected_gene': 'FOXR1', 'score': 10.18}, {'connected_gene': 'ENSG00000222529', 'score': 10.18}, {'connected_gene': 'UPK2', 'score': 10.13}, {'connected_gene': 'GC11P119057', 'score': 0.44}]