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
ENST00000326019	[[27886337, 27887444], [27887966, 27888162], [27890134, 27890257], [27891709, 27891770], [27892114, 27892254], [27898398, 27898559], [27900161, 27900231], [27900604, 27900791], [27905114, 27905226], [27907903, 27908144], [27910800, 27910887], [27911566, 27911634], [27916551, 27916621], [27917500, 27917836]]	[[27886619, 27887444], [27887966, 27888162], [27890134, 27890257], [27891709, 27891770], [27892114, 27892254], [27898398, 27898559], [27900161, 27900231], [27900604, 27900791], [27905114, 27905226], [27907903, 27908144], [27910800, 27910887], [27911566, 27911634], [27916551, 27916621], [27917500, 27917550]]
ENST00000427424	[[27887333, 27887444], [27887966, 27888162], [27890134, 27890257], [27891503, 27891617], [27891709, 27891770], [27892114, 27892254], [27898398, 27898559]]	[[27887333, 27887444], [27887966, 27888162], [27890134, 27890257], [27891503, 27891547]]
ENST00000492196	[[27914424, 27916621], [27917500, 27917840]]	None
NM_018158	[[27886337, 27887444], [27887966, 27888162], [27890134, 27890257], [27891709, 27891770], [27892114, 27892254], [27898398, 27898559], [27900161, 27900231], [27900604, 27900791], [27905114, 27905226], [27907903, 27908144], [27910800, 27910887], [27911566, 27911634], [27916551, 27916621], [27917500, 27917847]]	[[27886619, 27887444], [27887966, 27888162], [27890134, 27890257], [27891709, 27891770], [27892114, 27892254], [27898398, 27898559], [27900161, 27900231], [27900604, 27900791], [27905114, 27905226], [27907903, 27908144], [27910800, 27910887], [27911566, 27911634], [27916551, 27916621], [27917500, 27917550]]

Promoter

Chrom	Start	End	Description
chr2	27886281	27886305	CAGE_peak_7_at_SLC4A1AP_5end
chr2	27886308	27886329	CAGE_peak_8_at_SLC4A1AP_5end
chr2	27886330	27886344	CAGE_peak_6_at_SLC4A1AP_5end
chr2	27886363	27886384	CAGE_peak_5_at_SLC4A1AP_5end
chr2	27886526	27886562	CAGE_peak_2_at_SLC4A1AP_5end
chr2	27886595	27886613	CAGE_peak_4_at_SLC4A1AP_5end
chr2	27886747	27886783	CAGE_peak_1_at_SLC4A1AP_5end
chr2	27907901	27907906	CAGE_peak_3_at_SLC4A1AP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I027662	27662437	27664854	2.14	[{'connected_gene': 'SUPT7L', 'score': 626.29}, {'connected_gene': 'SLC4A1AP', 'score': 562.73}, {'connected_gene': 'IFT172', 'score': 86.94}, {'connected_gene': 'GTF3C2', 'score': 83.29}, {'connected_gene': 'CAD', 'score': 69.97}, {'connected_gene': 'ZNF512', 'score': 64.61}, {'connected_gene': 'GPN1', 'score': 57.67}, {'connected_gene': 'NRBP1', 'score': 51.44}, {'connected_gene': 'EIF2B4', 'score': 50.65}, {'connected_gene': 'SNX17', 'score': 43.13}, {'connected_gene': 'LOC105374363', 'score': 41.54}, {'connected_gene': 'GTF3C2-AS1', 'score': 33.54}, {'connected_gene': 'ENSG00000272148', 'score': 33.32}, {'connected_gene': 'TMEM214', 'score': 31.87}, {'connected_gene': 'CCDC121', 'score': 21.4}, {'connected_gene': 'ZNF513', 'score': 20.79}, {'connected_gene': 'ATRAID', 'score': 20.76}, {'connected_gene': 'AGBL5-IT1', 'score': 20.67}, {'connected_gene': 'PPM1G', 'score': 20.5}, {'connected_gene': 'OST4', 'score': 12.66}, {'connected_gene': 'ENSG00000206731', 'score': 11.53}, {'connected_gene': 'ENSG00000272056', 'score': 10.72}, {'connected_gene': 'FOSL2', 'score': 10.65}, {'connected_gene': 'MPV17', 'score': 10.34}, {'connected_gene': 'FLJ31356', 'score': 10.22}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027663	27662167	27662226	0.5	[{'connected_gene': 'SUPT7L', 'score': 550.77}, {'connected_gene': 'SLC4A1AP', 'score': 550.77}, {'connected_gene': 'PIR62267', 'score': 0.39}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027654	27654557	27654845	0.33	[{'connected_gene': 'SNX17', 'score': 14.43}, {'connected_gene': 'SLC4A1AP', 'score': 11.39}, {'connected_gene': 'PIR62267', 'score': 0.77}, {'connected_gene': 'SUPT7L', 'score': 0.44}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027636	27636637	27639813	0.69	[{'connected_gene': 'SNX17', 'score': 16.94}, {'connected_gene': 'SLC4A1AP', 'score': 11.64}, {'connected_gene': 'KRTCAP3', 'score': 6.8}, {'connected_gene': 'CGREF1', 'score': 4.78}, {'connected_gene': 'OST4', 'score': 4.37}, {'connected_gene': 'ENSG00000206731', 'score': 0.77}, {'connected_gene': 'GC02M027644', 'score': 0.77}, {'connected_gene': 'CCDC121', 'score': 0.44}, {'connected_gene': 'GPN1', 'score': 0.44}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027792	27792601	27793001	0.51	[{'connected_gene': 'MRPL33', 'score': 11.79}, {'connected_gene': 'SLC4A1AP', 'score': 4.76}, {'connected_gene': 'GC02P027841', 'score': 0.25}, {'connected_gene': 'RBKS', 'score': 0.15}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2	GH02I027655	27655314	27655463	0.38	[{'connected_gene': 'CCDC121', 'score': 10.79}, {'connected_gene': 'GPN1', 'score': 10.79}, {'connected_gene': 'ZNF512', 'score': 10.18}, {'connected_gene': 'IFT172', 'score': 9.95}, {'connected_gene': 'KRTCAP3', 'score': 9.76}, {'connected_gene': 'NRBP1', 'score': 9.76}, {'connected_gene': 'PIR62267', 'score': 0.77}, {'connected_gene': 'SLC4A1AP', 'score': 0.44}, {'connected_gene': 'SUPT7L', 'score': 0.44}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027461	27461234	27461383	0.59	[{'connected_gene': 'FNDC4', 'score': 10.82}, {'connected_gene': 'GCKR', 'score': 10.8}, {'connected_gene': 'IFT172', 'score': 10.63}, {'connected_gene': 'SUPT7L', 'score': 9.75}, {'connected_gene': 'SLC4A1AP', 'score': 9.75}, {'connected_gene': 'ENSG00000235267', 'score': 0.44}, {'connected_gene': 'GC02M027477', 'score': 0.39}, {'connected_gene': 'RNU6-986P', 'score': 0.39}]
chr2	GH02I027884	27884926	27892403	2.5	[{'connected_gene': 'RBKS', 'score': 550.77}, {'connected_gene': 'BABAM2', 'score': 550.77}, {'connected_gene': 'TRMT61B', 'score': 10.11}, {'connected_gene': 'KRTCAP3', 'score': 5.24}, {'connected_gene': 'FNDC4', 'score': 5.23}, {'connected_gene': 'SLC4A1AP', 'score': 4.45}, {'connected_gene': 'BRE-AS1', 'score': 0.77}, {'connected_gene': 'GC02P027841', 'score': 0.25}, {'connected_gene': 'MRPL33', 'score': 0.13}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2	GH02I027914	27914200	27914802	0.8	[{'connected_gene': 'FOSL2', 'score': 13.64}, {'connected_gene': 'RBKS', 'score': 6.4}, {'connected_gene': 'SLC4A1AP', 'score': 4.47}, {'connected_gene': 'LOC100420770', 'score': 0.37}, {'connected_gene': 'BABAM2', 'score': 0.34}, {'connected_gene': 'LOC105374369', 'score': 0.31}, {'connected_gene': 'MRPL33', 'score': 0.11}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2	GH02I027684	27684445	27687171	0.63	[{'connected_gene': 'SLC4A1AP', 'score': 21.16}, {'connected_gene': 'SUPT7L', 'score': 12.0}, {'connected_gene': 'LINC01460', 'score': 11.39}, {'connected_gene': 'CCDC121', 'score': 10.51}, {'connected_gene': 'GPN1', 'score': 10.51}, {'connected_gene': 'ZNF512', 'score': 10.25}, {'connected_gene': 'C2orf16', 'score': 9.65}, {'connected_gene': 'KRTCAP3', 'score': 7.13}, {'connected_gene': 'OST4', 'score': 4.2}, {'connected_gene': 'LOC105374378', 'score': 0.29}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2	GH02I027689	27689534	27689763	0.2	[{'connected_gene': 'SLC4A1AP', 'score': 11.98}, {'connected_gene': 'SUPT7L', 'score': 11.98}, {'connected_gene': 'LINC01460', 'score': 11.41}, {'connected_gene': 'CCDC121', 'score': 10.5}, {'connected_gene': 'GPN1', 'score': 10.5}, {'connected_gene': 'ZNF512', 'score': 10.25}, {'connected_gene': 'C2orf16', 'score': 9.64}, {'connected_gene': 'LOC105374378', 'score': 0.31}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2	GH02I027652	27652232	27653704	0.2	[{'connected_gene': 'SLC4A1AP', 'score': 12.36}, {'connected_gene': 'PIR62267', 'score': 0.77}, {'connected_gene': 'SUPT7L', 'score': 0.39}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027875	27875614	27875763	0.82	[{'connected_gene': 'SLC4A1AP', 'score': 4.18}, {'connected_gene': 'BABAM2', 'score': 0.39}, {'connected_gene': 'RBKS', 'score': 0.37}, {'connected_gene': 'GC02P027841', 'score': 0.29}, {'connected_gene': 'MRPL33', 'score': 0.15}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2	GH02I027656	27656007	27656298	0.22	[{'connected_gene': 'SLC4A1AP', 'score': 12.91}, {'connected_gene': 'GPN1', 'score': 12.42}, {'connected_gene': 'CCDC121', 'score': 11.9}, {'connected_gene': 'ZNF512', 'score': 11.09}, {'connected_gene': 'IFT172', 'score': 10.57}, {'connected_gene': 'NRBP1', 'score': 10.32}, {'connected_gene': 'KRTCAP3', 'score': 9.14}, {'connected_gene': 'SLC5A6', 'score': 5.71}, {'connected_gene': 'SUPT7L', 'score': 3.06}, {'connected_gene': 'GTF3C2', 'score': 2.72}, {'connected_gene': 'BABAM2', 'score': 2.24}, {'connected_gene': 'PIR62267', 'score': 0.44}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027701	27701379	27702458	0.51	[{'connected_gene': 'SLC4A1AP', 'score': 10.8}, {'connected_gene': 'LOC105374378', 'score': 0.39}, {'connected_gene': 'SUPT7L', 'score': 0.28}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2	GH02I027801	27801946	27802023	0.49	[{'connected_gene': 'SNRPGP7', 'score': 10.9}, {'connected_gene': 'PLB1', 'score': 10.9}, {'connected_gene': 'LOC102723530', 'score': 10.9}, {'connected_gene': 'FNDC4', 'score': 9.89}, {'connected_gene': 'MRPL33', 'score': 5.9}, {'connected_gene': 'CCDC121', 'score': 2.87}, {'connected_gene': 'IFT172', 'score': 2.6}, {'connected_gene': 'ZNF512', 'score': 1.86}, {'connected_gene': 'SLC4A1AP', 'score': 1.85}, {'connected_gene': 'SUPT7L', 'score': 1.64}, {'connected_gene': 'GPN1', 'score': 1.23}, {'connected_gene': 'GC02P027841', 'score': 0.28}, {'connected_gene': 'RBKS', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2	GH02I027680	27680832	27684322	1.33	[{'connected_gene': 'LINC01460', 'score': 11.39}, {'connected_gene': 'SLC4A1AP', 'score': 10.83}, {'connected_gene': 'CCDC121', 'score': 10.52}, {'connected_gene': 'GPN1', 'score': 10.52}, {'connected_gene': 'ZNF512', 'score': 10.26}, {'connected_gene': 'C2orf16', 'score': 9.65}, {'connected_gene': 'SUPT7L', 'score': 0.37}, {'connected_gene': 'LOC105374378', 'score': 0.29}, {'connected_gene': 'GC02M027478', 'score': 0.04}]