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
ENST00000600128 [[8130285, 8131144], [8136931, 8137082], [8137946, 8138181], [8139954, 8140074], [8140166, 8140295], [8145886, 8146003], [8146241, 8146364], [8148130, 8148256], [8150246, 8150453], [8151083, 8151209], [8151960, 8152095], [8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154777, 8154843], [8154982, 8155135], [8156348, 8156474], [8159329, 8159449], [8160258, 8160387], [8160847, 8160964], [8161327, 8161453], [8161764, 8161890], [8162172, 8162298], [8165784, 8165856], [8167607, 8167757], [8168445, 8168571], [8170991, 8171117], [8173053, 8173122], [8174110, 8174272], [8174514, 8174637], [8175728, 8175851], [8175941, 8176067], [8176531, 8176654], [8176860, 8176983], [8180398, 8180524], [8181557, 8181683], [8182052, 8182175], [8182347, 8182473], [8183780, 8183906], [8186141, 8186270], [8188347, 8188473], [8188667, 8188892], [8190775, 8190901], [8191180, 8191231], [8191351, 8191489], [8191596, 8191716], [8193911, 8194037], [8194123, 8194249], [8196118, 8196172], [8196437, 8196713], [8197867, 8197990], [8200844, 8200970], [8201073, 8201193], [8201271, 8201415], [8203024, 8203207], [8203295, 8203448], [8206600, 8206726], [8206823, 8207021], [8209760, 8209856], [8210726, 8210822], [8211010, 8211109], [8211987, 8212070], [8212197, 8212381], [8214332, 8214730]] [[8130802, 8131144], [8136931, 8137082], [8137946, 8138181], [8139954, 8140074], [8140166, 8140295], [8145886, 8146003], [8146241, 8146364], [8148130, 8148256], [8150246, 8150453], [8151083, 8151209], [8151960, 8152095], [8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154777, 8154843], [8154982, 8155135], [8156348, 8156474], [8159329, 8159449], [8160258, 8160387], [8160847, 8160964], [8161327, 8161453], [8161764, 8161890], [8162172, 8162298], [8165784, 8165856], [8167607, 8167757], [8168445, 8168571], [8170991, 8171117], [8173053, 8173122], [8174110, 8174272], [8174514, 8174637], [8175728, 8175851], [8175941, 8176067], [8176531, 8176654], [8176860, 8176983], [8180398, 8180524], [8181557, 8181683], [8182052, 8182175], [8182347, 8182473], [8183780, 8183906], [8186141, 8186270], [8188347, 8188473], [8188667, 8188892], [8190775, 8190901], [8191180, 8191231], [8191351, 8191489], [8191596, 8191716], [8193911, 8194037], [8194123, 8194249], [8196118, 8196172], [8196437, 8196713], [8197867, 8197990], [8200844, 8200970], [8201073, 8201193], [8201271, 8201415], [8203024, 8203207], [8203295, 8203448], [8206600, 8206726], [8206823, 8207021], [8209760, 8209856], [8210726, 8210822], [8211010, 8211109], [8211987, 8212070], [8212197, 8212364]]
ENST00000270509 [[8130286, 8131144], [8136931, 8137082], [8137946, 8138181], [8139954, 8140074], [8140166, 8140295], [8145886, 8146003], [8146241, 8146364], [8148130, 8148256], [8150246, 8150453], [8151083, 8151209], [8151960, 8152095], [8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154777, 8154843], [8154982, 8155135], [8156348, 8156474], [8159329, 8159449], [8160258, 8160387], [8160847, 8160964], [8161327, 8161453], [8161764, 8161890], [8162172, 8162298], [8165784, 8165856], [8167607, 8167757], [8168445, 8168571], [8170991, 8171117], [8173053, 8173122], [8174110, 8174272], [8174514, 8174637], [8175728, 8175851], [8175941, 8176067], [8176531, 8176654], [8176860, 8176983], [8180398, 8180524], [8181557, 8181683], [8182052, 8182175], [8182347, 8182473], [8183780, 8183906], [8186141, 8186270], [8188347, 8188473], [8188667, 8188892], [8190775, 8190901], [8191180, 8191231], [8191351, 8191489], [8191596, 8191716], [8193911, 8194037], [8194123, 8194249], [8196118, 8196172], [8196437, 8196713], [8197867, 8197990], [8200844, 8200970], [8201073, 8201193], [8201271, 8201415], [8203024, 8203207], [8203295, 8203448], [8206600, 8206726], [8206823, 8207021], [8209760, 8209856], [8210726, 8210822], [8211010, 8211109], [8211987, 8212070], [8212197, 8212650]] [[8130802, 8131144], [8136931, 8137082], [8137946, 8138181], [8139954, 8140074], [8140166, 8140295], [8145886, 8146003], [8146241, 8146364], [8148130, 8148256], [8150246, 8150453], [8151083, 8151209], [8151960, 8152095], [8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154777, 8154843], [8154982, 8155135], [8156348, 8156474], [8159329, 8159449], [8160258, 8160387], [8160847, 8160964], [8161327, 8161453], [8161764, 8161890], [8162172, 8162298], [8165784, 8165856], [8167607, 8167757], [8168445, 8168571], [8170991, 8171117], [8173053, 8173122], [8174110, 8174272], [8174514, 8174637], [8175728, 8175851], [8175941, 8176067], [8176531, 8176654], [8176860, 8176983], [8180398, 8180524], [8181557, 8181683], [8182052, 8182175], [8182347, 8182473], [8183780, 8183906], [8186141, 8186270], [8188347, 8188473], [8188667, 8188892], [8190775, 8190901], [8191180, 8191231], [8191351, 8191489], [8191596, 8191716], [8193911, 8194037], [8194123, 8194249], [8196118, 8196172], [8196437, 8196713], [8197867, 8197990], [8200844, 8200970], [8201073, 8201193], [8201271, 8201415], [8203024, 8203207], [8203295, 8203448], [8206600, 8206726], [8206823, 8207021], [8209760, 8209856], [8210726, 8210822], [8211010, 8211109], [8211987, 8212070], [8212197, 8212364]]
ENST00000601739 [[8130286, 8131144], [8136931, 8137082], [8137946, 8138181], [8139954, 8140074], [8140166, 8140295], [8145886, 8146003], [8146241, 8146364], [8148130, 8148256], [8150246, 8150453], [8151083, 8151209], [8151960, 8152095], [8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154777, 8154843], [8154982, 8155135], [8156348, 8156474], [8159329, 8159449], [8160258, 8160387], [8160847, 8160964], [8161327, 8161453], [8161764, 8161890], [8162172, 8162298], [8165784, 8165856], [8167607, 8167757], [8168445, 8168571], [8170991, 8171117], [8173053, 8173122], [8174110, 8174272], [8174514, 8174637], [8175728, 8175851], [8175941, 8176067], [8176531, 8176654], [8176860, 8176983], [8180398, 8180524], [8181557, 8181683], [8182052, 8182175], [8182347, 8182473], [8183780, 8183906], [8186141, 8186270], [8188347, 8188473], [8188667, 8188892], [8190775, 8190901], [8191180, 8191231], [8191351, 8191489], [8191596, 8191716], [8193911, 8194037], [8194123, 8194249], [8196118, 8196172], [8196437, 8196713], [8197867, 8197990], [8200844, 8200970], [8201073, 8201193], [8201271, 8201415], [8203024, 8203207], [8203295, 8203448], [8206600, 8206726], [8206823, 8207021], [8209760, 8209856], [8210726, 8210822], [8211010, 8211109], [8211987, 8212070], [8212197, 8212381], [8213630, 8213753]] [[8130802, 8131144], [8136931, 8137082], [8137946, 8138181], [8139954, 8140074], [8140166, 8140295], [8145886, 8146003], [8146241, 8146364], [8148130, 8148256], [8150246, 8150453], [8151083, 8151209], [8151960, 8152095], [8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154777, 8154843], [8154982, 8155135], [8156348, 8156474], [8159329, 8159449], [8160258, 8160387], [8160847, 8160964], [8161327, 8161453], [8161764, 8161890], [8162172, 8162298], [8165784, 8165856], [8167607, 8167757], [8168445, 8168571], [8170991, 8171117], [8173053, 8173122], [8174110, 8174272], [8174514, 8174637], [8175728, 8175851], [8175941, 8176067], [8176531, 8176654], [8176860, 8176983], [8180398, 8180524], [8181557, 8181683], [8182052, 8182175], [8182347, 8182473], [8183780, 8183906], [8186141, 8186270], [8188347, 8188473], [8188667, 8188892], [8190775, 8190901], [8191180, 8191231], [8191351, 8191489], [8191596, 8191716], [8193911, 8194037], [8194123, 8194249], [8196118, 8196172], [8196437, 8196713], [8197867, 8197990], [8200844, 8200970], [8201073, 8201193], [8201271, 8201415], [8203024, 8203207], [8203295, 8203448], [8206600, 8206726], [8206823, 8207021], [8209760, 8209856], [8210726, 8210822], [8211010, 8211109], [8211987, 8212070], [8212197, 8212364]]
ENST00000595036 [[8139649, 8140074], [8145886, 8145940]] None
ENST00000601281 [[8152087, 8152095], [8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154982, 8155117]] [[8152087, 8152095], [8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154982, 8155117]]
ENST00000598269 [[8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154777, 8154861]] None
ENST00000602121 [[8160262, 8160387], [8160847, 8160964], [8161327, 8161453], [8161764, 8161890], [8165784, 8165852]] [[8160262, 8160387], [8160847, 8160964], [8161327, 8161453], [8161764, 8161890], [8165784, 8165852]]
ENST00000594331 [[8175771, 8175851], [8175941, 8176067], [8176531, 8176690]] None
NM_001321431 [[8130285, 8131144], [8136931, 8137082], [8137946, 8138181], [8139954, 8140074], [8140166, 8140295], [8145886, 8146003], [8146241, 8146364], [8148130, 8148256], [8150246, 8150453], [8151083, 8151209], [8151960, 8152095], [8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154777, 8154843], [8154982, 8155135], [8156348, 8156474], [8159329, 8159449], [8160258, 8160387], [8160847, 8160964], [8161327, 8161453], [8161764, 8161890], [8162172, 8162298], [8165784, 8165856], [8167607, 8167757], [8168445, 8168571], [8170991, 8171117], [8173053, 8173122], [8174110, 8174272], [8174514, 8174637], [8175728, 8175851], [8175941, 8176067], [8176531, 8176654], [8176860, 8176983], [8180398, 8180524], [8181557, 8181683], [8182052, 8182175], [8182347, 8182473], [8183780, 8183906], [8186141, 8186270], [8188347, 8188473], [8188667, 8188892], [8190775, 8190901], [8191180, 8191231], [8191351, 8191489], [8191596, 8191716], [8193911, 8194037], [8194123, 8194249], [8196118, 8196172], [8196437, 8196713], [8197867, 8197990], [8200844, 8200970], [8201073, 8201193], [8201271, 8201415], [8203024, 8203207], [8203295, 8203448], [8206600, 8206726], [8206823, 8207021], [8209760, 8209856], [8210726, 8210822], [8211010, 8211109], [8211987, 8212070], [8212197, 8212381], [8213630, 8213753]] [[8130802, 8131144], [8136931, 8137082], [8137946, 8138181], [8139954, 8140074], [8140166, 8140295], [8145886, 8146003], [8146241, 8146364], [8148130, 8148256], [8150246, 8150453], [8151083, 8151209], [8151960, 8152095], [8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154777, 8154843], [8154982, 8155135], [8156348, 8156474], [8159329, 8159449], [8160258, 8160387], [8160847, 8160964], [8161327, 8161453], [8161764, 8161890], [8162172, 8162298], [8165784, 8165856], [8167607, 8167757], [8168445, 8168571], [8170991, 8171117], [8173053, 8173122], [8174110, 8174272], [8174514, 8174637], [8175728, 8175851], [8175941, 8176067], [8176531, 8176654], [8176860, 8176983], [8180398, 8180524], [8181557, 8181683], [8182052, 8182175], [8182347, 8182473], [8183780, 8183906], [8186141, 8186270], [8188347, 8188473], [8188667, 8188892], [8190775, 8190901], [8191180, 8191231], [8191351, 8191489], [8191596, 8191716], [8193911, 8194037], [8194123, 8194249], [8196118, 8196172], [8196437, 8196713], [8197867, 8197990], [8200844, 8200970], [8201073, 8201193], [8201271, 8201415], [8203024, 8203207], [8203295, 8203448], [8206600, 8206726], [8206823, 8207021], [8209760, 8209856], [8210726, 8210822], [8211010, 8211109], [8211987, 8212070], [8212197, 8212364]]
NM_032447 [[8130285, 8131144], [8136931, 8137082], [8137946, 8138181], [8139954, 8140074], [8140166, 8140295], [8145886, 8146003], [8146241, 8146364], [8148130, 8148256], [8150246, 8150453], [8151083, 8151209], [8151960, 8152095], [8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154777, 8154843], [8154982, 8155135], [8156348, 8156474], [8159329, 8159449], [8160258, 8160387], [8160847, 8160964], [8161327, 8161453], [8161764, 8161890], [8162172, 8162298], [8165784, 8165856], [8167607, 8167757], [8168445, 8168571], [8170991, 8171117], [8173053, 8173122], [8174110, 8174272], [8174514, 8174637], [8175728, 8175851], [8175941, 8176067], [8176531, 8176654], [8176860, 8176983], [8180398, 8180524], [8181557, 8181683], [8182052, 8182175], [8182347, 8182473], [8183780, 8183906], [8186141, 8186270], [8188347, 8188473], [8188667, 8188892], [8190775, 8190901], [8191180, 8191231], [8191351, 8191489], [8191596, 8191716], [8193911, 8194037], [8194123, 8194249], [8196118, 8196172], [8196437, 8196713], [8197867, 8197990], [8200844, 8200970], [8201073, 8201193], [8201271, 8201415], [8203024, 8203207], [8203295, 8203448], [8206600, 8206726], [8206823, 8207021], [8209760, 8209856], [8210726, 8210822], [8211010, 8211109], [8211987, 8212070], [8212197, 8212381], [8214332, 8214730]] [[8130802, 8131144], [8136931, 8137082], [8137946, 8138181], [8139954, 8140074], [8140166, 8140295], [8145886, 8146003], [8146241, 8146364], [8148130, 8148256], [8150246, 8150453], [8151083, 8151209], [8151960, 8152095], [8152708, 8152831], [8152943, 8153063], [8154428, 8154554], [8154777, 8154843], [8154982, 8155135], [8156348, 8156474], [8159329, 8159449], [8160258, 8160387], [8160847, 8160964], [8161327, 8161453], [8161764, 8161890], [8162172, 8162298], [8165784, 8165856], [8167607, 8167757], [8168445, 8168571], [8170991, 8171117], [8173053, 8173122], [8174110, 8174272], [8174514, 8174637], [8175728, 8175851], [8175941, 8176067], [8176531, 8176654], [8176860, 8176983], [8180398, 8180524], [8181557, 8181683], [8182052, 8182175], [8182347, 8182473], [8183780, 8183906], [8186141, 8186270], [8188347, 8188473], [8188667, 8188892], [8190775, 8190901], [8191180, 8191231], [8191351, 8191489], [8191596, 8191716], [8193911, 8194037], [8194123, 8194249], [8196118, 8196172], [8196437, 8196713], [8197867, 8197990], [8200844, 8200970], [8201073, 8201193], [8201271, 8201415], [8203024, 8203207], [8203295, 8203448], [8206600, 8206726], [8206823, 8207021], [8209760, 8209856], [8210726, 8210822], [8211010, 8211109], [8211987, 8212070], [8212197, 8212364]]
Promoter
Chrom Start End Description
chr19 8214470 8214486 CAGE_peak_2_at_FBN3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I008085 8085294 8086910 0.97 [{'connected_gene': 'FBN3', 'score': 5.41}, {'connected_gene': 'MAP2K7', 'score': 5.3}, {'connected_gene': 'PRAM1', 'score': 5.01}, {'connected_gene': 'GC19M008058', 'score': 0.31}, {'connected_gene': 'GC19M008113', 'score': 0.31}]
chr19 GH19I008148 8148174 8150412 1.57 [{'connected_gene': 'FBN3', 'score': 594.69}, {'connected_gene': 'ZNF558', 'score': 17.49}, {'connected_gene': 'ENSG00000269300', 'score': 16.32}, {'connected_gene': 'ELAVL1', 'score': 14.04}, {'connected_gene': 'HNRNPM', 'score': 12.19}, {'connected_gene': 'ZNF317', 'score': 10.42}, {'connected_gene': 'GC19M008115', 'score': 0.37}]
chr19 GH19I008180 8180509 8182092 0.72 [{'connected_gene': 'FBN3', 'score': 9.1}, {'connected_gene': 'LOC100422633', 'score': 0.44}, {'connected_gene': 'CERS4', 'score': 0.31}]
chr19 GH19I008120 8120485 8121596 0.46 [{'connected_gene': 'FBN3', 'score': 11.36}, {'connected_gene': 'GC19M008115', 'score': 0.44}, {'connected_gene': 'GC19M008113', 'score': 0.44}]
chr19 GH19I008145 8145977 8146246 0.6 [{'connected_gene': 'FBN3', 'score': 5.83}, {'connected_gene': 'GC19M008115', 'score': 0.37}]
chr19 GH19I008160 8160872 8161726 0.96 [{'connected_gene': 'ZNF317', 'score': 13.6}, {'connected_gene': 'XAB2', 'score': 13.39}, {'connected_gene': 'HNRNPM', 'score': 11.73}, {'connected_gene': 'FBN3', 'score': 10.1}, {'connected_gene': 'ZNF558', 'score': 10.0}, {'connected_gene': 'GC19P008154', 'score': 0.44}, {'connected_gene': 'LOC100422633', 'score': 0.39}]
chr19 GH19I008139 8139366 8140155 0.63 [{'connected_gene': 'KANK3', 'score': 5.63}, {'connected_gene': 'GC19M008115', 'score': 0.44}, {'connected_gene': 'FBN3', 'score': 0.39}]
chr19 GH19I007690 7690529 7693329 1.31 [{'connected_gene': 'FCER2', 'score': 14.82}, {'connected_gene': 'HNRNPM', 'score': 10.28}, {'connected_gene': 'STXBP2', 'score': 9.92}, {'connected_gene': 'ARHGEF18', 'score': 4.9}, {'connected_gene': 'MAP2K7', 'score': 1.65}, {'connected_gene': 'EVI5L', 'score': 1.51}, {'connected_gene': 'FBN3', 'score': 1.31}, {'connected_gene': 'GC19P007703', 'score': 0.77}, {'connected_gene': 'TRAPPC5', 'score': 0.39}]
chr19 GH19I008065 8065017 8065897 0.43 [{'connected_gene': 'ELAVL1', 'score': 11.64}, {'connected_gene': 'GC19M008058', 'score': 0.44}, {'connected_gene': 'GC19M008113', 'score': 0.25}, {'connected_gene': 'FBN3', 'score': 0.18}]
chr19 GH19I007842 7842495 7842983 0.85 [{'connected_gene': 'ELAVL1', 'score': 10.49}, {'connected_gene': 'LRRC8E', 'score': 9.82}, {'connected_gene': 'EVI5L', 'score': 6.66}, {'connected_gene': 'FBN3', 'score': 2.59}, {'connected_gene': 'PNPLA6', 'score': 2.25}, {'connected_gene': 'CAMSAP3', 'score': 1.54}, {'connected_gene': 'CERS4', 'score': 1.48}, {'connected_gene': 'CTXN1', 'score': 1.31}, {'connected_gene': 'ENSG00000268120', 'score': 0.31}]
chr19 GH19I008192 8192002 8195889 1.28 [{'connected_gene': 'ZNF558', 'score': 14.93}, {'connected_gene': 'ELAVL1', 'score': 14.56}, {'connected_gene': 'HNRNPM', 'score': 13.6}, {'connected_gene': 'ZNF317', 'score': 13.08}, {'connected_gene': 'XAB2', 'score': 12.55}, {'connected_gene': 'MAP2K7', 'score': 10.25}, {'connected_gene': 'ENSG00000269300', 'score': 10.23}, {'connected_gene': 'CERS4', 'score': 9.85}, {'connected_gene': 'FBN3', 'score': 8.1}, {'connected_gene': 'LOC100422633', 'score': 0.34}]
chr19 GH19I008158 8158401 8158801 1.14 [{'connected_gene': 'ZNF558', 'score': 14.93}, {'connected_gene': 'ELAVL1', 'score': 14.58}, {'connected_gene': 'HNRNPM', 'score': 13.59}, {'connected_gene': 'XAB2', 'score': 12.55}, {'connected_gene': 'MAP2K7', 'score': 10.25}, {'connected_gene': 'ENSG00000269300', 'score': 10.22}, {'connected_gene': 'ZNF317', 'score': 9.83}, {'connected_gene': 'FBN3', 'score': 9.36}, {'connected_gene': 'GC19P008154', 'score': 0.77}, {'connected_gene': 'LOC100422633', 'score': 0.39}]
chr19 GH19I007995 7995781 7996156 0.4 [{'connected_gene': 'TIMM44', 'score': 13.05}, {'connected_gene': 'FBN3', 'score': 1.53}, {'connected_gene': 'GC19P007992', 'score': 0.77}, {'connected_gene': 'ELAVL1', 'score': 0.44}]
chr19 GH19I008154 8154442 8155677 1.11 [{'connected_gene': 'GC19P008153', 'score': 550.77}, {'connected_gene': 'GC19P008154', 'score': 550.77}, {'connected_gene': 'FBN3', 'score': 21.07}, {'connected_gene': 'LOC100422633', 'score': 0.37}]
chr19 GH19I008113 8113217 8113366 0.72 [{'connected_gene': 'GC19M008113', 'score': 550.77}, {'connected_gene': 'FBN3', 'score': 20.05}, {'connected_gene': 'GC19M008058', 'score': 0.23}]
chr19 GH19I008073 8073201 8073400 0.52 [{'connected_gene': 'GC19M008058', 'score': 0.39}, {'connected_gene': 'GC19M008113', 'score': 0.26}, {'connected_gene': 'FBN3', 'score': 0.18}]

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