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
ENST00000543196	[[51745030, 51748276], [51749589, 51749742], [51751132, 51751234], [51751913, 51752045], [51752915, 51753116], [51754504, 51754622], [51757904, 51758139], [51759213, 51759363], [51770978, 51771151], [51773074, 51773668], [51777244, 51777347]]	[[51748162, 51748276], [51749589, 51749742], [51751132, 51751234], [51751913, 51752045], [51752915, 51753116], [51754504, 51754622], [51757904, 51758139], [51759213, 51759363], [51770978, 51771151], [51773074, 51773565]]
ENST00000356317	[[51747536, 51748276], [51749589, 51749742], [51751132, 51751234], [51751913, 51752045], [51752915, 51753116], [51754504, 51754622], [51757904, 51758139], [51759213, 51759363], [51770978, 51771151], [51773074, 51773668], [51784633, 51784721], [51785070, 51785193]]	[[51748162, 51748276], [51749589, 51749742], [51751132, 51751234], [51751913, 51752045], [51752915, 51753116], [51754504, 51754622], [51757904, 51758139], [51759213, 51759363], [51770978, 51771151], [51773074, 51773565]]
ENST00000603641	[[51748054, 51748276], [51749589, 51749742], [51751132, 51751234], [51751913, 51752045], [51752915, 51753116], [51757904, 51758139], [51759213, 51759363], [51770978, 51771151], [51773074, 51773565]]	[[51753067, 51753116], [51757904, 51758139], [51759213, 51759363], [51770978, 51771151], [51773074, 51773565]]
ENST00000604381	[[51773153, 51773668], [51785384, 51785436]]	[[51773153, 51773565]]
ENST00000604847	[[51773196, 51773668], [51785138, 51785220]]	[[51773196, 51773565]]
ENST00000604426	[[51773329, 51773668], [51777244, 51777366], [51786574, 51786651]]	[[51773329, 51773565]]
ENST00000605617	[[51773359, 51773668], [51777244, 51777366], [51784633, 51784721], [51785384, 51785447]]	[[51773359, 51773565]]
ENST00000603188	[[51773377, 51773668], [51777244, 51777366], [51784633, 51784721], [51785138, 51785218]]	[[51773377, 51773565]]
ENST00000603563	[[51773399, 51773668], [51777244, 51777366], [51784633, 51784721], [51784865, 51785083]]	[[51773399, 51773565]]
ENST00000603680	[[51747552, 51748276], [51749589, 51749742], [51751132, 51751234], [51751913, 51752045], [51752915, 51754010]]	None
ENST00000605138	[[51773447, 51773668], [51776096, 51776293], [51777275, 51777366], [51784633, 51784721], [51785384, 51785413]]	[[51773447, 51773565]]
ENST00000604506	[[51773495, 51773668], [51776096, 51776293], [51777244, 51777366], [51785138, 51785220]]	[[51773495, 51773565]]
ENST00000605055	[[51773496, 51773668], [51777244, 51777366], [51784633, 51784721], [51784865, 51784979], [51785384, 51785436]]	[[51773496, 51773565]]
ENST00000603203	[[51773569, 51773668], [51776096, 51776293], [51777244, 51777366], [51784633, 51784721], [51785384, 51785435]]	None
ENST00000605822	[[51773596, 51773668], [51777244, 51777366], [51785384, 51785739]]	None
ENST00000605089	[[51773624, 51773668], [51776096, 51776293], [51777244, 51777366], [51784633, 51784721], [51785070, 51785174]]	None
ENST00000603482	[[51776118, 51776293], [51777244, 51777366], [51785384, 51785459]]	None
ENST00000605367	[[51776244, 51776293], [51777244, 51777366], [51784865, 51785188]]	None
ENST00000605720	[[51776244, 51776293], [51777244, 51777366], [51785070, 51785375]]	None
NM_007210	[[51745832, 51748276], [51749589, 51749742], [51751132, 51751234], [51751913, 51752045], [51752915, 51753116], [51754504, 51754622], [51757904, 51758139], [51759213, 51759363], [51770978, 51771151], [51773074, 51773668], [51784633, 51784721], [51785070, 51785200]]	[[51748162, 51748276], [51749589, 51749742], [51751132, 51751234], [51751913, 51752045], [51752915, 51753116], [51754504, 51754622], [51757904, 51758139], [51759213, 51759363], [51770978, 51771151], [51773074, 51773565]]

Promoter

Chrom	Start	End	Description
chr12	51773539	51773553	CAGE_peak_7_at_GALNT6_5end
chr12	51773572	51773577	CAGE_peak_15_at_GALNT6_5end
chr12	51773597	51773612	CAGE_peak_5_at_GALNT6_5end
chr12	51773643	51773648	CAGE_peak_16_at_GALNT6_5end
chr12	51785088	51785093	CAGE_peak_12_at_GALNT6_5end
chr12	51785182	51785197	CAGE_peak_2_at_GALNT6_5end
chr12	51785393	51785469	CAGE_peak_1_at_GALNT6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I051770	51770553	51771761	0.31	[{'connected_gene': 'SLC4A8', 'score': 9.51}, {'connected_gene': 'GALNT6', 'score': 9.51}, {'connected_gene': 'PIR41414', 'score': 0.77}, {'connected_gene': 'GC12P051765', 'score': 0.44}, {'connected_gene': 'SCN8A', 'score': 0.09}]
chr12	GH12I051429	51429891	51430727	0.6	[{'connected_gene': 'SLC4A8', 'score': 11.22}, {'connected_gene': 'GALNT6', 'score': 11.22}, {'connected_gene': 'BIN2', 'score': 9.3}, {'connected_gene': 'ENSG00000271065', 'score': 5.3}, {'connected_gene': 'PIR56141', 'score': 0.34}, {'connected_gene': 'GC12P051454', 'score': 0.34}]
chr12	GH12I051427	51427283	51428812	0.38	[{'connected_gene': 'SLC4A8', 'score': 19.4}, {'connected_gene': 'GALNT6', 'score': 12.22}, {'connected_gene': 'RNU6-574P', 'score': 10.44}, {'connected_gene': 'ENSG00000271065', 'score': 0.77}, {'connected_gene': 'PIR56141', 'score': 0.31}, {'connected_gene': 'GC12P051454', 'score': 0.31}]
chr12	GH12I051504	51504957	51505106	0.2	[{'connected_gene': 'SLC4A8', 'score': 10.96}, {'connected_gene': 'GALNT6', 'score': 10.96}, {'connected_gene': 'PIR43020', 'score': 0.77}, {'connected_gene': 'GC12M051477', 'score': 0.77}]
chr12	GH12I051424	51424056	51426033	1.9	[{'connected_gene': 'SLC4A8', 'score': 568.41}, {'connected_gene': 'ENSG00000271065', 'score': 555.63}, {'connected_gene': 'GALNT6', 'score': 12.23}, {'connected_gene': 'PIR56141', 'score': 0.31}, {'connected_gene': 'GC12P051454', 'score': 0.31}]
chr12	GH12I051518	51518817	51518966	0.6	[{'connected_gene': 'SLC4A8', 'score': 10.75}, {'connected_gene': 'GALNT6', 'score': 10.75}, {'connected_gene': 'PIR34472', 'score': 0.44}, {'connected_gene': 'GC12P051516', 'score': 0.44}, {'connected_gene': 'GC12M051574', 'score': 0.22}]
chr12	GH12I051448	51448472	51450000	0.31	[{'connected_gene': 'SLC4A8', 'score': 10.95}, {'connected_gene': 'GALNT6', 'score': 10.95}, {'connected_gene': 'PIR56141', 'score': 0.77}, {'connected_gene': 'GC12P051454', 'score': 0.77}, {'connected_gene': 'ENSG00000271065', 'score': 0.34}]
chr12	GH12I051505	51505478	51506803	0.2	[{'connected_gene': 'SLC4A8', 'score': 16.38}, {'connected_gene': 'GALNT6', 'score': 10.96}, {'connected_gene': 'PIR43020', 'score': 0.77}, {'connected_gene': 'GC12M051477', 'score': 0.77}]
chr12	GH12I051419	51419677	51420255	0.66	[{'connected_gene': 'SLC4A8', 'score': 18.05}, {'connected_gene': 'GALNT6', 'score': 12.25}, {'connected_gene': 'ENSG00000271065', 'score': 5.63}]
chr12	GH12I051262	51262601	51263666	1.16	[{'connected_gene': 'BIN2', 'score': 15.32}, {'connected_gene': 'DAZAP2', 'score': 11.04}, {'connected_gene': 'SLC4A8', 'score': 9.8}, {'connected_gene': 'GALNT6', 'score': 9.8}, {'connected_gene': 'SMAGP', 'score': 5.63}, {'connected_gene': 'LOC102723983', 'score': 0.44}]
chr12	GH12I051280	51280644	51282571	0.54	[{'connected_gene': 'BIN2', 'score': 11.13}, {'connected_gene': 'DAZAP2', 'score': 11.0}, {'connected_gene': 'CELA1', 'score': 10.62}, {'connected_gene': 'SLC4A8', 'score': 10.34}, {'connected_gene': 'GALNT6', 'score': 10.33}, {'connected_gene': 'CSRNP2', 'score': 10.17}, {'connected_gene': 'RNU6-1273P', 'score': 10.04}, {'connected_gene': 'LETMD1', 'score': 10.01}, {'connected_gene': 'SLC11A2', 'score': 9.98}, {'connected_gene': 'SMAGP', 'score': 7.47}, {'connected_gene': 'POU6F1', 'score': 4.71}, {'connected_gene': 'LOC105369767', 'score': 0.26}]
chr12	GH12I051353	51352000	51352201	1.09	[{'connected_gene': 'BIN2', 'score': 11.46}, {'connected_gene': 'SLC4A8', 'score': 10.77}, {'connected_gene': 'GALNT6', 'score': 10.75}, {'connected_gene': 'LETMD1', 'score': 10.27}, {'connected_gene': 'RNU6-1273P', 'score': 10.1}, {'connected_gene': 'SLC11A2', 'score': 9.58}, {'connected_gene': 'CELA1', 'score': 7.84}, {'connected_gene': 'POU6F1', 'score': 4.63}]
chr12	GH12I051352	51352271	51352366	0.79	[{'connected_gene': 'BIN2', 'score': 11.46}, {'connected_gene': 'SLC4A8', 'score': 10.77}, {'connected_gene': 'GALNT6', 'score': 10.75}, {'connected_gene': 'LETMD1', 'score': 10.27}, {'connected_gene': 'RNU6-1273P', 'score': 10.1}, {'connected_gene': 'SLC11A2', 'score': 9.58}, {'connected_gene': 'CELA1', 'score': 0.44}]
chr12	GH12I051383	51383420	51384511	0.69	[{'connected_gene': 'BIN2', 'score': 10.57}, {'connected_gene': 'SLC4A8', 'score': 0.44}, {'connected_gene': 'GALNT6', 'score': 0.44}, {'connected_gene': 'CELA1', 'score': 0.28}]
chr12	GH12I051300	51300275	51301085	0.52	[{'connected_gene': 'BIN2', 'score': 17.69}, {'connected_gene': 'CELA1', 'score': 12.21}, {'connected_gene': 'DAZAP2', 'score': 10.52}, {'connected_gene': 'RNU6-1273P', 'score': 10.28}, {'connected_gene': 'SLC11A2', 'score': 10.27}, {'connected_gene': 'LETMD1', 'score': 10.11}, {'connected_gene': 'GALNT6', 'score': 10.07}, {'connected_gene': 'SLC4A8', 'score': 10.07}, {'connected_gene': 'POU6F1', 'score': 5.63}, {'connected_gene': 'LOC105369767', 'score': 0.34}, {'connected_gene': 'SMAGP', 'score': 0.31}]
chr12	GH12I051301	51301215	51304745	0.49	[{'connected_gene': 'BIN2', 'score': 18.99}, {'connected_gene': 'CELA1', 'score': 18.97}, {'connected_gene': 'RNU6-1273P', 'score': 10.27}, {'connected_gene': 'SLC11A2', 'score': 10.27}, {'connected_gene': 'GALNT6', 'score': 10.08}, {'connected_gene': 'SLC4A8', 'score': 10.08}, {'connected_gene': 'POU6F1', 'score': 5.68}, {'connected_gene': 'LOC105369767', 'score': 0.34}, {'connected_gene': 'SMAGP', 'score': 0.29}]
chr12	GH12I051317	51317925	51328249	2.46	[{'connected_gene': 'BIN2', 'score': 566.99}, {'connected_gene': 'LOC105369767', 'score': 550.77}, {'connected_gene': 'CELA1', 'score': 22.86}, {'connected_gene': 'HNRNPA3P10', 'score': 11.2}, {'connected_gene': 'POU6F1', 'score': 6.48}, {'connected_gene': 'DAZAP2', 'score': 6.13}, {'connected_gene': 'SMAGP', 'score': 5.43}, {'connected_gene': 'SLC11A2', 'score': 5.12}, {'connected_gene': 'PHBP19', 'score': 4.81}, {'connected_gene': 'GALNT6', 'score': 1.39}]
chr12	GH12I051846	51846439	51849562	1.61	[{'connected_gene': 'FIGNL2', 'score': 552.21}, {'connected_gene': 'LOC105369971', 'score': 550.77}, {'connected_gene': 'SLC4A8', 'score': 14.29}, {'connected_gene': 'ACVRL1', 'score': 12.65}, {'connected_gene': 'ENSG00000261586', 'score': 11.18}, {'connected_gene': 'RNU6-574P', 'score': 10.85}, {'connected_gene': 'GALNT6', 'score': 10.2}, {'connected_gene': 'ANKRD33', 'score': 7.68}, {'connected_gene': 'SCN8A', 'score': 2.05}, {'connected_gene': 'GC12P051832', 'score': 0.37}, {'connected_gene': 'GC12P051838', 'score': 0.37}, {'connected_gene': 'GC12P051835', 'score': 0.37}, {'connected_gene': 'GC12P051836', 'score': 0.37}, {'connected_gene': 'GC12P051837', 'score': 0.37}]
chr12	GH12I051855	51855457	51856741	1.04	[{'connected_gene': 'ANKRD33', 'score': 21.16}, {'connected_gene': 'SLC4A8', 'score': 11.83}, {'connected_gene': 'NR4A1', 'score': 10.86}, {'connected_gene': 'GRASP', 'score': 10.33}, {'connected_gene': 'GALNT6', 'score': 9.97}, {'connected_gene': 'FIGNL2', 'score': 2.61}, {'connected_gene': 'GC12P051832', 'score': 0.31}, {'connected_gene': 'GC12P051838', 'score': 0.31}, {'connected_gene': 'GC12P051835', 'score': 0.31}, {'connected_gene': 'GC12P051836', 'score': 0.31}, {'connected_gene': 'GC12P051837', 'score': 0.31}]
chr12	GH12I050778	50778188	50780048	0.63	[{'connected_gene': 'ATF1', 'score': 21.52}, {'connected_gene': 'CERS5', 'score': 15.94}, {'connected_gene': 'SLC11A2', 'score': 10.79}, {'connected_gene': 'RNU6-1273P', 'score': 10.46}, {'connected_gene': 'LETMD1', 'score': 10.31}, {'connected_gene': 'BIN2', 'score': 9.48}, {'connected_gene': 'GALNT6', 'score': 9.4}, {'connected_gene': 'SLC4A8', 'score': 9.4}, {'connected_gene': 'DIP2B', 'score': 9.02}, {'connected_gene': 'LARP4', 'score': 4.24}, {'connected_gene': 'ENSG00000271490', 'score': 0.31}]
chr12	GH12I051376	51376531	51379278	0.76	[{'connected_gene': 'CELA1', 'score': 9.96}, {'connected_gene': 'SLC4A8', 'score': 0.39}, {'connected_gene': 'GALNT6', 'score': 0.39}]
chr12	GH12I051373	51373257	51373486	0.38	[{'connected_gene': 'CELA1', 'score': 11.33}, {'connected_gene': 'BIN2', 'score': 11.05}, {'connected_gene': 'SLC4A8', 'score': 0.37}, {'connected_gene': 'GALNT6', 'score': 0.37}]
chr12	GH12I051374	51374164	51375670	0.2	[{'connected_gene': 'CELA1', 'score': 11.33}, {'connected_gene': 'BIN2', 'score': 11.04}, {'connected_gene': 'OR7E47P', 'score': 5.09}, {'connected_gene': 'GALNT6', 'score': 4.76}, {'connected_gene': 'SLC4A8', 'score': 0.37}]
chr12	GH12I051358	51358440	51368053	0.78	[{'connected_gene': 'GALNT6', 'score': 21.55}, {'connected_gene': 'SLC4A8', 'score': 12.07}, {'connected_gene': 'BIN2', 'score': 11.11}, {'connected_gene': 'CSRNP2', 'score': 10.4}, {'connected_gene': 'DAZAP2', 'score': 10.31}, {'connected_gene': 'SLC11A2', 'score': 9.97}, {'connected_gene': 'RNU6-1273P', 'score': 9.97}, {'connected_gene': 'CELA1', 'score': 5.23}, {'connected_gene': 'POU6F1', 'score': 4.87}]
chr12	GH12I051387	51387374	51396449	2.57	[{'connected_gene': 'GALNT6', 'score': 565.23}, {'connected_gene': 'SLC4A8', 'score': 556.37}, {'connected_gene': 'BIN2', 'score': 11.71}, {'connected_gene': 'SLC11A2', 'score': 11.07}, {'connected_gene': 'CELA1', 'score': 10.97}, {'connected_gene': 'DAZAP2', 'score': 6.7}, {'connected_gene': 'CSRNP2', 'score': 2.09}]
chr12	GH12I051421	51421377	51421546	0.65	[{'connected_gene': 'GALNT6', 'score': 12.25}, {'connected_gene': 'SLC4A8', 'score': 12.23}, {'connected_gene': 'ENSG00000271065', 'score': 0.77}]
chr12	GH12I051402	51402775	51408176	1.24	[{'connected_gene': 'GALNT6', 'score': 9.94}, {'connected_gene': 'ENSG00000271065', 'score': 5.69}, {'connected_gene': 'SLC4A8', 'score': 0.39}]
chr12	GH12I051398	51398024	51402500	1.02	[{'connected_gene': 'GALNT6', 'score': 11.21}, {'connected_gene': 'HIGD1C', 'score': 10.67}, {'connected_gene': 'SCN8A', 'score': 7.82}, {'connected_gene': 'SLC4A8', 'score': 5.65}, {'connected_gene': 'METTL7A', 'score': 3.6}, {'connected_gene': 'ENSG00000271065', 'score': 0.34}]
chr12	GH12I051357	51357210	51358056	0.66	[{'connected_gene': 'GALNT6', 'score': 17.34}, {'connected_gene': 'BIN2', 'score': 11.44}, {'connected_gene': 'SLC4A8', 'score': 11.05}, {'connected_gene': 'CSRNP2', 'score': 10.4}, {'connected_gene': 'DAZAP2', 'score': 10.31}, {'connected_gene': 'LETMD1', 'score': 10.27}, {'connected_gene': 'RNU6-1273P', 'score': 10.1}, {'connected_gene': 'SLC11A2', 'score': 9.97}, {'connected_gene': 'CELA1', 'score': 5.22}]
chr12	GH12I051386	51386286	51386961	0.4	[{'connected_gene': 'GALNT6', 'score': 13.97}, {'connected_gene': 'BIN2', 'score': 10.41}, {'connected_gene': 'SLC4A8', 'score': 0.77}, {'connected_gene': 'CELA1', 'score': 0.28}]
chr12	GH12I051368	51368462	51372910	1.74	[{'connected_gene': 'GALNT6', 'score': 19.29}, {'connected_gene': 'CELA1', 'score': 16.23}, {'connected_gene': 'BIN2', 'score': 12.63}, {'connected_gene': 'SLC4A8', 'score': 12.09}, {'connected_gene': 'DAZAP2', 'score': 2.41}, {'connected_gene': 'CSRNP2', 'score': 1.7}, {'connected_gene': 'FIGNL2', 'score': 1.63}, {'connected_gene': 'SLC11A2', 'score': 1.54}]
chr12	GH12I051528	51528058	51530519	0.46	[{'connected_gene': 'GALNT6', 'score': 4.82}, {'connected_gene': 'PIR34472', 'score': 0.37}, {'connected_gene': 'GC12P051516', 'score': 0.37}, {'connected_gene': 'GC12M051574', 'score': 0.25}]
chr12	GH12I051751	51751293	51752994	0.69	[{'connected_gene': 'HNRNPA3P10', 'score': 12.28}, {'connected_gene': 'SCN8A', 'score': 11.26}, {'connected_gene': 'ANKRD33', 'score': 10.11}, {'connected_gene': 'GALNT6', 'score': 9.29}, {'connected_gene': 'SLC4A8', 'score': 9.29}, {'connected_gene': 'GC12P051765', 'score': 0.39}]
chr12	GH12I051410	51410057	51410206	0.43	[{'connected_gene': 'ENSG00000271065', 'score': 0.39}, {'connected_gene': 'SLC4A8', 'score': 0.37}, {'connected_gene': 'GALNT6', 'score': 0.37}]
chr12	GH12I051813	51813897	51815308	1.18	[{'connected_gene': 'ENSG00000284730', 'score': 550.77}, {'connected_gene': 'ENSG00000260473', 'score': 550.77}, {'connected_gene': 'SLC4A8', 'score': 10.22}, {'connected_gene': 'GALNT6', 'score': 10.22}, {'connected_gene': 'GC12M051790', 'score': 0.77}]