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
ENST00000525734 [[117185272, 117185444], [117206320, 117206396], [117209281, 117209384], [117214881, 117214993], [117222505, 117222658]] [[117209302, 117209384], [117214881, 117214993], [117222505, 117222658]]
ENST00000533153 [[117198565, 117198620], [117214881, 117214993], [117222505, 117222704], [117232550, 117232709], [117233119, 117233179]] [[117214937, 117214993], [117222505, 117222704], [117232550, 117232709], [117233119, 117233179]]
ENST00000278935 [[117198570, 117198620], [117206320, 117206396], [117209281, 117209384], [117214881, 117214993], [117222505, 117222704], [117232550, 117232709], [117233119, 117233254], [117234144, 117234222], [117241795, 117242182], [117244466, 117244547], [117246423, 117246507], [117251329, 117251421], [117252416, 117252584], [117253511, 117253658], [117257918, 117258128], [117261492, 117261624], [117261714, 117261931], [117262941, 117263019], [117263211, 117263343], [117263719, 117263842], [117265065, 117265209], [117265635, 117265719], [117265838, 117265907], [117266262, 117266438], [117266769, 117266896], [117267265, 117267327], [117267806, 117268029], [117278640, 117278748], [117279605, 117279744], [117280333, 117280681], [117281543, 117281610], [117282510, 117282633], [117282787, 117283984]] [[117209302, 117209384], [117214881, 117214993], [117222505, 117222704], [117232550, 117232709], [117233119, 117233254], [117234144, 117234222], [117241795, 117242182], [117244466, 117244547], [117246423, 117246507], [117251329, 117251421], [117252416, 117252584], [117253511, 117253658], [117257918, 117258128], [117261492, 117261624], [117261714, 117261931], [117262941, 117263019], [117263211, 117263343], [117263719, 117263842], [117265065, 117265209], [117265635, 117265719], [117265838, 117265907], [117266262, 117266438], [117266769, 117266896], [117267265, 117267327], [117267806, 117268029], [117278640, 117278748], [117279605, 117279744], [117280333, 117280681], [117281543, 117281610], [117282510, 117282633], [117282787, 117282884]]
ENST00000525416 [[117198644, 117198924], [117206320, 117206396], [117214881, 117214993], [117222505, 117222704], [117232550, 117232661]] [[117214937, 117214993], [117222505, 117222704], [117232550, 117232661]]
ENST00000527609 [[117198800, 117198924], [117206320, 117206396], [117209281, 117209384], [117214881, 117214993], [117222505, 117222675]] [[117209302, 117209384], [117214881, 117214993], [117222505, 117222675]]
ENST00000533570 [[117198818, 117198924], [117209281, 117209384], [117214881, 117214993], [117222505, 117222676]] [[117209302, 117209384], [117214881, 117214993], [117222505, 117222676]]
ENST00000533675 [[117226694, 117227333], [117232550, 117232709], [117233119, 117233254], [117234144, 117234222], [117241795, 117242182], [117244466, 117244547], [117246423, 117246507], [117251329, 117251430], [117252416, 117252584], [117257918, 117258128], [117261492, 117261624], [117261714, 117261931], [117262941, 117263019], [117263211, 117263343], [117263719, 117263842], [117265065, 117265209], [117265635, 117265907], [117266262, 117266438], [117266769, 117266896], [117267265, 117267327], [117267806, 117268029], [117278640, 117278748], [117279605, 117279720], [117280333, 117280681], [117281543, 117281610], [117282510, 117282633], [117282787, 117283059]] None
ENST00000533706 [[117234670, 117234759], [117241795, 117242182], [117244466, 117244547], [117246423, 117246507], [117251329, 117251421], [117252416, 117252584], [117253511, 117253658], [117257918, 117258128], [117261492, 117261624], [117261714, 117261931], [117262941, 117263019], [117263211, 117263343], [117263719, 117263842], [117265065, 117265209], [117265635, 117265719], [117265838, 117265907], [117266262, 117266438], [117266769, 117266896], [117267265, 117267327], [117267806, 117268029], [117278640, 117278748], [117279241, 117279471], [117279605, 117279744], [117280333, 117280681], [117281543, 117281610], [117282510, 117282633], [117282787, 117283982]] None
ENST00000529153 [[117253447, 117253620], [117257918, 117258128], [117261492, 117261624], [117261714, 117261774]] None
ENST00000533223 [[117255312, 117258128], [117261492, 117261624], [117261714, 117261931], [117262941, 117263019], [117263211, 117263343], [117263719, 117263842], [117265065, 117265209], [117265635, 117265719], [117265838, 117265907], [117266262, 117266438], [117266769, 117266896], [117267265, 117267327], [117267806, 117268029], [117278640, 117278748], [117279605, 117279720], [117280333, 117281417]] None
ENST00000528706 [[117279732, 117280681], [117281543, 117281610], [117282510, 117282633], [117282787, 117283055]] None
ENST00000532187 [[117280527, 117280681], [117281543, 117281610], [117282143, 117282580]] None
ENST00000533433 [[117281827, 117282633], [117282787, 117283546]] None
NM_001271933 [[117192493, 117192553], [117209281, 117209384], [117214881, 117214993], [117222505, 117222704], [117232550, 117232709], [117233119, 117233254], [117234144, 117234222], [117241795, 117242182], [117244466, 117244547], [117246423, 117246507], [117251329, 117251430], [117252416, 117252584], [117253511, 117253658], [117257918, 117258128], [117261492, 117261624], [117261714, 117261931], [117262941, 117263019], [117263211, 117263343], [117263719, 117263842], [117265065, 117265209], [117265635, 117265719], [117265838, 117265907], [117266262, 117266438], [117266769, 117266896], [117267265, 117267327], [117267806, 117268029], [117278640, 117278748], [117279605, 117279720], [117280333, 117280681], [117281543, 117281610], [117282510, 117282633], [117282787, 117283982]] [[117209302, 117209384], [117214881, 117214993], [117222505, 117222704], [117232550, 117232709], [117233119, 117233254], [117234144, 117234222], [117241795, 117242182], [117244466, 117244547], [117246423, 117246507], [117251329, 117251430], [117252416, 117252584], [117253511, 117253658], [117257918, 117258128], [117261492, 117261624], [117261714, 117261931], [117262941, 117263019], [117263211, 117263343], [117263719, 117263842], [117265065, 117265209], [117265635, 117265719], [117265838, 117265907], [117266262, 117266438], [117266769, 117266896], [117267265, 117267327], [117267806, 117268029], [117278640, 117278748], [117279605, 117279720], [117280333, 117280681], [117281543, 117281610], [117282510, 117282633], [117282787, 117282884]]
NM_014956 [[117198570, 117198620], [117206320, 117206396], [117209281, 117209384], [117214881, 117214993], [117222505, 117222704], [117232550, 117232709], [117233119, 117233254], [117234144, 117234222], [117241795, 117242182], [117244466, 117244547], [117246423, 117246507], [117251329, 117251421], [117252416, 117252584], [117253511, 117253658], [117257918, 117258128], [117261492, 117261624], [117261714, 117261931], [117262941, 117263019], [117263211, 117263343], [117263719, 117263842], [117265065, 117265209], [117265635, 117265719], [117265838, 117265907], [117266262, 117266438], [117266769, 117266896], [117267265, 117267327], [117267806, 117268029], [117278640, 117278748], [117279605, 117279744], [117280333, 117280681], [117281543, 117281610], [117282510, 117282633], [117282787, 117283982]] [[117209302, 117209384], [117214881, 117214993], [117222505, 117222704], [117232550, 117232709], [117233119, 117233254], [117234144, 117234222], [117241795, 117242182], [117244466, 117244547], [117246423, 117246507], [117251329, 117251421], [117252416, 117252584], [117253511, 117253658], [117257918, 117258128], [117261492, 117261624], [117261714, 117261931], [117262941, 117263019], [117263211, 117263343], [117263719, 117263842], [117265065, 117265209], [117265635, 117265719], [117265838, 117265907], [117266262, 117266438], [117266769, 117266896], [117267265, 117267327], [117267806, 117268029], [117278640, 117278748], [117279605, 117279744], [117280333, 117280681], [117281543, 117281610], [117282510, 117282633], [117282787, 117282884]]
Promoter
Chrom Start End Description
chr11 117198545 117198607 CAGE_peak_2_at_CEP164_5end
chr11 117198852 117198873 CAGE_peak_1_at_CEP164_5end
chr11 117234503 117234507 CAGE_peak_5_at_CEP164_5end
chr11 117281609 117281614 CAGE_peak_8_at_CEP164_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I117299 117299075 117301417 1.2 [{'connected_gene': 'LOC653303', 'score': 8.63}, {'connected_gene': 'BACE1', 'score': 4.96}, {'connected_gene': 'ENSG00000276505', 'score': 0.77}, {'connected_gene': 'CEP164', 'score': 0.39}]
chr11 GH11I117814 117814039 117820765 1.71 [{'connected_gene': 'DSCAML1', 'score': 564.66}, {'connected_gene': 'ENSG00000254844', 'score': 550.77}, {'connected_gene': 'IL10RA', 'score': 24.0}, {'connected_gene': 'FXYD2', 'score': 13.16}, {'connected_gene': 'FXYD6-FXYD2', 'score': 11.12}, {'connected_gene': 'FXYD6', 'score': 11.11}, {'connected_gene': 'TMPRSS13', 'score': 10.9}, {'connected_gene': 'CEP164', 'score': 5.7}, {'connected_gene': 'TMEM25', 'score': 5.28}, {'connected_gene': 'JAML', 'score': 1.41}, {'connected_gene': 'GC11P117669', 'score': 0.11}]
chr11 GH11I117383 117383665 117385035 0.52 [{'connected_gene': 'CD3G', 'score': 4.86}, {'connected_gene': 'GC11P117420', 'score': 0.28}, {'connected_gene': 'PRR13P3', 'score': 0.25}, {'connected_gene': 'CEP164', 'score': 0.2}]
chr11 GH11I117273 117273396 117275003 0.95 [{'connected_gene': 'RNF214', 'score': 16.99}, {'connected_gene': 'BACE1', 'score': 15.69}, {'connected_gene': 'PCSK7', 'score': 11.0}, {'connected_gene': 'CEP164', 'score': 10.23}, {'connected_gene': 'LOC653303', 'score': 8.72}, {'connected_gene': 'PIR36792', 'score': 0.39}, {'connected_gene': 'ENSG00000252992', 'score': 0.39}]
chr11 GH11I117314 117314465 117317075 2.14 [{'connected_gene': 'BACE1', 'score': 557.33}, {'connected_gene': 'GC11M117315', 'score': 550.77}, {'connected_gene': 'GC11P117316', 'score': 550.77}, {'connected_gene': 'CEP164', 'score': 550.77}, {'connected_gene': 'ENSG00000250699', 'score': 0.39}]
chr11 GH11I116470 116470954 116474441 0.74 [{'connected_gene': 'CEP164', 'score': 15.37}, {'connected_gene': 'RNF214', 'score': 12.38}, {'connected_gene': 'BUD13', 'score': 11.61}, {'connected_gene': 'LINC02151', 'score': 0.31}, {'connected_gene': 'GC11P116229', 'score': 0.07}]
chr11 GH11I116458 116458624 116461312 0.71 [{'connected_gene': 'CEP164', 'score': 14.91}, {'connected_gene': 'RNF214', 'score': 13.66}, {'connected_gene': 'LINC02151', 'score': 0.26}, {'connected_gene': 'GC11P116229', 'score': 0.07}]
chr11 GH11I117369 117369645 117369794 0.2 [{'connected_gene': 'PRR13P3', 'score': 0.29}, {'connected_gene': 'GC11P117420', 'score': 0.23}, {'connected_gene': 'CEP164', 'score': 0.22}]
chr11 GH11I117303 117303965 117304114 0.38 [{'connected_gene': 'ENSG00000252992', 'score': 11.25}, {'connected_gene': 'ENSG00000276505', 'score': 0.44}, {'connected_gene': 'BACE1', 'score': 0.39}, {'connected_gene': 'CEP164', 'score': 0.39}]
chr11 GH11I117327 117327128 117329307 2.03 [{'connected_gene': 'ENSG00000250699', 'score': 550.77}, {'connected_gene': 'CEP164', 'score': 550.39}, {'connected_gene': 'RNF214', 'score': 24.82}, {'connected_gene': 'BUD13', 'score': 16.36}, {'connected_gene': 'ZPR1', 'score': 13.57}, {'connected_gene': 'PCSK7', 'score': 10.64}, {'connected_gene': 'ENSG00000252992', 'score': 10.55}, {'connected_gene': 'BACE1', 'score': 5.34}, {'connected_gene': 'GC11M117336', 'score': 0.44}]
chr11 GH11I117036 117036905 117038400 1.12 [{'connected_gene': 'GC11M117036', 'score': 550.77}, {'connected_gene': 'RPS27P19', 'score': 550.77}, {'connected_gene': 'RNF214', 'score': 22.37}, {'connected_gene': 'APOA1', 'score': 16.13}, {'connected_gene': 'CEP164', 'score': 15.41}, {'connected_gene': 'LOC653303', 'score': 13.5}, {'connected_gene': 'BUD13', 'score': 11.62}, {'connected_gene': 'SIK3', 'score': 11.12}, {'connected_gene': 'ENSG00000224077', 'score': 11.12}, {'connected_gene': 'TAGLN', 'score': 10.73}, {'connected_gene': 'APOA1-AS', 'score': 10.54}, {'connected_gene': 'APOC3', 'score': 10.54}, {'connected_gene': 'APOA4', 'score': 10.54}, {'connected_gene': 'PCSK7', 'score': 10.02}, {'connected_gene': 'GC11M117070', 'score': 0.29}]
chr11 GH11I117410 117410884 117412066 0.64 [{'connected_gene': 'GC11P117420', 'score': 0.44}, {'connected_gene': 'PRR13P3', 'score': 0.19}, {'connected_gene': 'CEP164', 'score': 0.15}]
chr11 GH11I117387 117387885 117389114 0.2 [{'connected_gene': 'GC11P117420', 'score': 0.29}, {'connected_gene': 'PRR13P3', 'score': 0.23}, {'connected_gene': 'CEP164', 'score': 0.19}]

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