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
ENST00000541669	[[18433853, 18433955], [18434255, 18434390], [18436730, 18436848], [18451283, 18451457], [18456286, 18456460], [18460074, 18460192], [18467756, 18467880], [18472509, 18473605]]	[[18434264, 18434390], [18436730, 18436848], [18451283, 18451457], [18456286, 18456460], [18460074, 18460192], [18467756, 18467880], [18472509, 18472674]]
ENST00000396215	[[18433869, 18433955], [18434255, 18434390], [18451283, 18451457], [18456286, 18456460], [18460074, 18460192], [18467756, 18467880], [18472509, 18472790]]	[[18434264, 18434390], [18451283, 18451313]]
ENST00000280704	[[18433877, 18434009], [18434255, 18434390], [18436730, 18436848], [18451283, 18451457], [18456286, 18456460], [18460074, 18460192], [18467756, 18467880], [18472509, 18472790]]	[[18434264, 18434390], [18436730, 18436848], [18451283, 18451457], [18456286, 18456460], [18460074, 18460192], [18467756, 18467880], [18472509, 18472674]]
ENST00000545848	[[18433906, 18433955], [18434255, 18434390], [18451283, 18451457], [18456286, 18456460], [18472509, 18472790]]	[[18434264, 18434390], [18451283, 18451313]]
ENST00000539369	[[18433906, 18433955], [18434255, 18434390], [18456286, 18456460], [18460074, 18460192], [18467756, 18467880], [18472509, 18472790]]	[[18434264, 18434390], [18456286, 18456298]]
ENST00000544105	[[18434264, 18434390], [18436730, 18436848], [18451283, 18451457], [18456286, 18456460], [18460074, 18460192], [18472509, 18472674]]	[[18434264, 18434390], [18436730, 18436848], [18451283, 18451457], [18456286, 18456460], [18460074, 18460192], [18472509, 18472525]]
ENST00000536880	[[18434264, 18434390], [18436730, 18436848], [18451325, 18451457], [18456286, 18456460], [18460074, 18460192], [18467756, 18467880], [18472509, 18472674]]	[[18434264, 18434390], [18436730, 18436848], [18451325, 18451457], [18456286, 18456460], [18460074, 18460192], [18467756, 18467880], [18472509, 18472674]]
ENST00000535809	[[18434264, 18434390], [18436730, 18436848], [18451283, 18451457], [18456286, 18456460], [18472509, 18472674]]	[[18434264, 18434390], [18436730, 18436848], [18451283, 18451457], [18456286, 18456460], [18472509, 18472595]]
ENST00000537486	[[18434264, 18434390], [18436730, 18436848], [18451283, 18451457], [18472509, 18472674]]	[[18434264, 18434390], [18436730, 18436848], [18451283, 18451457], [18472509, 18472595]]
ENST00000546146	[[18434264, 18434390], [18436730, 18436848], [18456286, 18456460], [18460074, 18460192], [18472509, 18472674]]	[[18434264, 18434390], [18436730, 18436848], [18456286, 18456460], [18460074, 18460192], [18472509, 18472525]]
NM_017448	[[18433852, 18433955], [18434255, 18434390], [18436730, 18436848], [18451283, 18451457], [18456286, 18456460], [18460074, 18460192], [18467756, 18467880], [18472509, 18472793]]	[[18434264, 18434390], [18436730, 18436848], [18451283, 18451457], [18456286, 18456460], [18460074, 18460192], [18467756, 18467880], [18472509, 18472674]]
NM_002301	[[18433852, 18434009], [18434255, 18434390], [18436730, 18436848], [18451283, 18451457], [18456286, 18456460], [18460074, 18460192], [18467756, 18467880], [18472509, 18472793]]	[[18434264, 18434390], [18436730, 18436848], [18451283, 18451457], [18456286, 18456460], [18460074, 18460192], [18467756, 18467880], [18472509, 18472674]]

Promoter

Chrom	Start	End	Description
chr11	18433840	18433917	CAGE_peak_1_at_LDHC_5end
chr11	18433925	18433936	CAGE_peak_2_at_LDHC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I018525	18525600	18528282	2.08	[{'connected_gene': 'TSG101', 'score': 590.04}, {'connected_gene': 'GC11P018527', 'score': 550.77}, {'connected_gene': 'LDHC', 'score': 14.81}, {'connected_gene': 'LDHA', 'score': 10.72}, {'connected_gene': 'HPS5', 'score': 10.25}, {'connected_gene': 'GTF2H1', 'score': 10.25}, {'connected_gene': 'SPTY2D1OS', 'score': 10.18}, {'connected_gene': 'LOC100129966', 'score': 10.17}, {'connected_gene': 'ENSG00000256361', 'score': 0.37}]
chr11	GH11I018587	18587085	18591861	2.04	[{'connected_gene': 'UEVLD', 'score': 550.77}, {'connected_gene': 'SPTY2D1OS', 'score': 550.77}, {'connected_gene': 'SPTY2D1', 'score': 24.07}, {'connected_gene': 'LDHC', 'score': 20.35}, {'connected_gene': 'TSG101', 'score': 19.06}, {'connected_gene': 'SAAL1', 'score': 18.83}, {'connected_gene': 'GTF2H1', 'score': 15.34}, {'connected_gene': 'LOC100129966', 'score': 12.4}, {'connected_gene': 'ENSG00000256361', 'score': 9.89}, {'connected_gene': 'SERGEF', 'score': 4.8}, {'connected_gene': 'GC11M018587', 'score': 0.77}]
chr11	GH11I018407	18407206	18408402	0.96	[{'connected_gene': 'LDHC', 'score': 11.69}, {'connected_gene': 'LDHA', 'score': 10.57}, {'connected_gene': 'ENSG00000256006', 'score': 0.77}]
chr11	GH11I018382	18382569	18385599	1.62	[{'connected_gene': 'LDHC', 'score': 46.03}, {'connected_gene': 'SPTY2D1', 'score': 17.65}, {'connected_gene': 'SAAL1', 'score': 12.86}, {'connected_gene': 'ENSG00000256361', 'score': 12.77}, {'connected_gene': 'ENSG00000256588', 'score': 12.77}, {'connected_gene': 'TSG101', 'score': 12.33}, {'connected_gene': 'LDHA', 'score': 10.44}, {'connected_gene': 'LDHAL6A', 'score': 5.76}, {'connected_gene': 'HPS5', 'score': 2.6}, {'connected_gene': 'MIR3159', 'score': 0.77}, {'connected_gene': 'GC11P018375', 'score': 0.44}]
chr11	GH11I018411	18411674	18412853	1.7	[{'connected_gene': 'LDHC', 'score': 602.68}, {'connected_gene': 'SPTY2D1', 'score': 6.96}, {'connected_gene': 'ENSG00000256006', 'score': 0.44}]
chr11	GH11I018410	18410494	18410603	0.52	[{'connected_gene': 'LDHC', 'score': 550.77}, {'connected_gene': 'ENSG00000256006', 'score': 0.77}]
chr11	GH11I018392	18392212	18397209	2.51	[{'connected_gene': 'LDHA', 'score': 560.94}, {'connected_gene': 'LDHC', 'score': 50.04}, {'connected_gene': 'SPTY2D1', 'score': 12.61}, {'connected_gene': 'SAAL1', 'score': 10.2}, {'connected_gene': 'GTF2H1', 'score': 7.03}, {'connected_gene': 'ENSG00000256006', 'score': 0.39}]
chr11	GH11I018423	18423038	18423189	0.22	[{'connected_gene': 'LDHA', 'score': 11.39}, {'connected_gene': 'HPS5', 'score': 10.57}, {'connected_gene': 'GTF2H1', 'score': 10.57}, {'connected_gene': 'SAA4', 'score': 10.46}, {'connected_gene': 'YWHABP2', 'score': 6.7}, {'connected_gene': 'SAAL1', 'score': 1.77}, {'connected_gene': 'LDHC', 'score': 0.39}, {'connected_gene': 'ENSG00000256734', 'score': 0.31}]
chr11	GH11I018306	18306885	18308711	0.31	[{'connected_gene': 'GTF2H1', 'score': 34.46}, {'connected_gene': 'LDHC', 'score': 10.38}, {'connected_gene': 'HPS5', 'score': 0.39}, {'connected_gene': 'RNA5SP334', 'score': 0.26}]
chr11	GH11I018328	18328702	18331351	1.3	[{'connected_gene': 'GTF2H1', 'score': 34.48}, {'connected_gene': 'LDHA', 'score': 17.69}, {'connected_gene': 'LDHC', 'score': 10.94}, {'connected_gene': 'HPS5', 'score': 0.44}, {'connected_gene': 'LOC105376577', 'score': 0.37}]
chr11	GH11I018309	18309963	18315399	1.22	[{'connected_gene': 'GTF2H1', 'score': 42.59}, {'connected_gene': 'SPTY2D1', 'score': 14.14}, {'connected_gene': 'SAAL1', 'score': 14.01}, {'connected_gene': 'ENSG00000256361', 'score': 11.81}, {'connected_gene': 'LDHA', 'score': 10.76}, {'connected_gene': 'LDHC', 'score': 10.39}, {'connected_gene': 'HPS5', 'score': 10.27}, {'connected_gene': 'SERGEF', 'score': 9.36}, {'connected_gene': 'RNA5SP334', 'score': 0.25}]
chr11	GH11I018633	18633100	18635392	2.05	[{'connected_gene': 'SPTY2D1', 'score': 589.92}, {'connected_gene': 'GC11P018635', 'score': 550.77}, {'connected_gene': 'LOC105376578', 'score': 550.77}, {'connected_gene': 'LDHC', 'score': 5.75}, {'connected_gene': 'YWHABP2', 'score': 5.62}, {'connected_gene': 'UEVLD', 'score': 5.44}, {'connected_gene': 'TSG101', 'score': 4.89}, {'connected_gene': 'ENSG00000279837', 'score': 0.29}]
chr11	GH11I018368	18368400	18368601	0.4	[{'connected_gene': 'HPS5', 'score': 20.77}, {'connected_gene': 'LDHA', 'score': 13.04}, {'connected_gene': 'GTF2H1', 'score': 11.22}, {'connected_gene': 'LDHC', 'score': 10.94}, {'connected_gene': 'GC11P018373', 'score': 0.77}, {'connected_gene': 'LOC105376577', 'score': 0.37}]
chr11	GH11I018346	18346639	18348766	0.31	[{'connected_gene': 'LOC105376577', 'score': 550.77}, {'connected_gene': 'GTF2H1', 'score': 16.43}, {'connected_gene': 'HPS5', 'score': 12.19}, {'connected_gene': 'LDHA', 'score': 11.7}, {'connected_gene': 'LDHC', 'score': 10.89}, {'connected_gene': 'SPTY2D1', 'score': 4.21}]
chr11	GH11I018385	18385982	18387772	0.2	[{'connected_gene': 'MIR3159', 'score': 550.77}, {'connected_gene': 'LDHC', 'score': 49.59}, {'connected_gene': 'GC11P018375', 'score': 0.39}]
chr11	GH11I018489	18489354	18493979	0.77	[{'connected_gene': 'YWHABP2', 'score': 559.49}, {'connected_gene': 'TSG101', 'score': 20.81}, {'connected_gene': 'LDHC', 'score': 19.28}, {'connected_gene': 'HPS5', 'score': 10.65}, {'connected_gene': 'GTF2H1', 'score': 10.65}, {'connected_gene': 'LDHA', 'score': 10.46}, {'connected_gene': 'SPTY2D1OS', 'score': 9.92}, {'connected_gene': 'LOC100129966', 'score': 9.91}, {'connected_gene': 'SPTY2D1', 'score': 5.15}, {'connected_gene': 'ENSG00000256588', 'score': 0.37}]
chr11	GH11I018236	18236465	18238043	1.35	[{'connected_gene': 'GC11M018180', 'score': 550.77}, {'connected_gene': 'SAA4', 'score': 550.77}, {'connected_gene': 'LDHC', 'score': 5.08}, {'connected_gene': 'TMEM86A', 'score': 4.7}, {'connected_gene': 'LOC100129966', 'score': 4.56}, {'connected_gene': 'SAA2-SAA4', 'score': 0.39}]
chr11	GH11I018371	18371056	18372816	0.77	[{'connected_gene': 'GC11P018373', 'score': 550.77}, {'connected_gene': 'GTF2H1', 'score': 44.4}, {'connected_gene': 'HPS5', 'score': 20.17}, {'connected_gene': 'LDHA', 'score': 13.07}, {'connected_gene': 'LDHC', 'score': 10.94}, {'connected_gene': 'GC11M018372', 'score': 0.77}, {'connected_gene': 'LOC105376577', 'score': 0.34}]