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
ENST00000429845 [[27152394, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27184935, 27184965], [27203951, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332107, 27332245], [27332752, 27332881], [27332974, 27333077], [27335078, 27335143], [27337103, 27337181], [27338669, 27338731], [27343186, 27343326], [27346237, 27346462], [27349349, 27349436], [27350416, 27350496], [27352439, 27352507], [27353589, 27353668], [27355787, 27355829], [27363667, 27363752], [27385762, 27385861], [27387576, 27387707], [27393955, 27394016], [27394302, 27394410], [27405177, 27405335], [27410715, 27410883]] [[27152762, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27184935, 27184965], [27203951, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332107, 27332245], [27332752, 27332881], [27332974, 27333077], [27335078, 27335143], [27337103, 27337181], [27338669, 27338731], [27343186, 27343326], [27346237, 27346462], [27349349, 27349436], [27350416, 27350496], [27352439, 27352507], [27353589, 27353668], [27355787, 27355829], [27363667, 27363752], [27385762, 27385861], [27387576, 27387707], [27393955, 27394016], [27394302, 27394373]]
ENST00000357467 [[27203756, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332752, 27332889]] [[27203937, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27297786, 27297862], [27326092, 27326195], [27326330, 27326432]]
ENST00000574215 [[27203756, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332752, 27332881], [27332974, 27332984]] None
ENST00000341435 [[27257097, 27257371], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332107, 27332245], [27332752, 27332881], [27332974, 27333077], [27335078, 27335143], [27337103, 27337181], [27338669, 27338731], [27343186, 27343326], [27346237, 27346462], [27349349, 27349436], [27350416, 27350496], [27352439, 27352507], [27353589, 27353668], [27355787, 27355829], [27363667, 27363752], [27385762, 27385861], [27387576, 27387707], [27393955, 27394016], [27394302, 27394410], [27409013, 27409053], [27410715, 27410912]] [[27257322, 27257371], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332107, 27332245], [27332752, 27332881], [27332974, 27333077], [27335078, 27335143], [27337103, 27337181], [27338669, 27338731], [27343186, 27343326], [27346237, 27346462], [27349349, 27349436], [27350416, 27350496], [27352439, 27352507], [27353589, 27353668], [27355787, 27355829], [27363667, 27363752], [27385762, 27385861], [27387576, 27387707], [27393955, 27394016], [27394302, 27394373]]
ENST00000491627 [[27350647, 27353668], [27355787, 27355829], [27363667, 27363752], [27385762, 27385861], [27387576, 27387707], [27393955, 27394016], [27394302, 27394410], [27410521, 27410687]] None
ENST00000435750 [[27363716, 27363752], [27385762, 27385861], [27387576, 27387707], [27393955, 27394016], [27394302, 27394410], [27410715, 27410951]] [[27363716, 27363752], [27385762, 27385861], [27387576, 27387707], [27393955, 27394016], [27394302, 27394373]]
ENST00000295720 [[27151575, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27184935, 27184965], [27203951, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27257222, 27257371], [27257860, 27257966]] [[27152762, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27184935, 27184965], [27203951, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27257222, 27257248]]
ENST00000383771 [[27152393, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27203951, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27257222, 27257371], [27257860, 27257966]] [[27152762, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27203951, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27257222, 27257248]]
ENST00000383770 [[27152403, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27257222, 27257371], [27257860, 27257966]] [[27152762, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27257222, 27257248]]
ENST00000498182 [[27173442, 27173481], [27182972, 27183073], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27236027, 27236167]] None
ENST00000460447 [[27215931, 27216016], [27216140, 27216324], [27233519, 27233733], [27235551, 27235722]] None
ENST00000435584 [[27296602, 27296795], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332107, 27332219]] [[27296755, 27296795], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332107, 27332219]]
ENST00000424275 [[27296602, 27296795], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332752, 27332881], [27332974, 27333048]] [[27296755, 27296795], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332752, 27332881], [27332974, 27333048]]
ENST00000474938 [[27320178, 27320464], [27326092, 27326195], [27326330, 27326392]] None
NM_152534 [[27152393, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27184935, 27184965], [27203951, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332107, 27332245], [27332752, 27332881], [27332974, 27333077], [27335078, 27335143], [27337103, 27337181], [27338669, 27338731], [27343186, 27343326], [27346237, 27346462], [27349349, 27349436], [27350416, 27350496], [27352439, 27352507], [27353589, 27353668], [27355787, 27355829], [27363667, 27363752], [27385762, 27385861], [27387576, 27387707], [27393955, 27394016], [27394302, 27394410], [27409013, 27409053], [27410715, 27410951]] [[27152762, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27184935, 27184965], [27203951, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332107, 27332245], [27332752, 27332881], [27332974, 27333077], [27335078, 27335143], [27337103, 27337181], [27338669, 27338731], [27343186, 27343326], [27346237, 27346462], [27349349, 27349436], [27350416, 27350496], [27352439, 27352507], [27353589, 27353668], [27355787, 27355829], [27363667, 27363752], [27385762, 27385861], [27387576, 27387707], [27393955, 27394016], [27394302, 27394373]]
NM_199347 [[27257096, 27257371], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332107, 27332245], [27332752, 27332881], [27332974, 27333077], [27335078, 27335143], [27337103, 27337181], [27338669, 27338731], [27343186, 27343326], [27346237, 27346462], [27349349, 27349436], [27350416, 27350496], [27352439, 27352507], [27353589, 27353668], [27355787, 27355829], [27363667, 27363752], [27385762, 27385861], [27387576, 27387707], [27393955, 27394016], [27394302, 27394410], [27409013, 27409053], [27410715, 27410951]] [[27257322, 27257371], [27297786, 27297862], [27326092, 27326195], [27326330, 27326452], [27329188, 27329234], [27332107, 27332245], [27332752, 27332881], [27332974, 27333077], [27335078, 27335143], [27337103, 27337181], [27338669, 27338731], [27343186, 27343326], [27346237, 27346462], [27349349, 27349436], [27350416, 27350496], [27352439, 27352507], [27353589, 27353668], [27355787, 27355829], [27363667, 27363752], [27385762, 27385861], [27387576, 27387707], [27393955, 27394016], [27394302, 27394373]]
NM_001304384 [[27152393, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27184935, 27184965], [27203951, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27257222, 27257371], [27257860, 27258014]] [[27152762, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27184935, 27184965], [27203951, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27257222, 27257248]]
NM_001031741 [[27152393, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27203951, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27257222, 27257371], [27257860, 27258014]] [[27152762, 27152811], [27157430, 27157486], [27157565, 27157618], [27161250, 27161359], [27173370, 27173481], [27182972, 27183073], [27203951, 27204092], [27204191, 27204229], [27213309, 27213364], [27215929, 27216016], [27216140, 27216324], [27233519, 27233733], [27243000, 27243071], [27243918, 27244048], [27257222, 27257248]]
Promoter
Chrom Start End Description
chr3 27235576 27235597 CAGE_peak_5_at_NEK10_5end
chr3 27387628 27387640 CAGE_peak_4_at_NEK10_5end
chr3 27387661 27387675 CAGE_peak_2_at_NEK10_5end
chr3 27410847 27410917 CAGE_peak_1_at_NEK10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I027194 27194110 27194259 0.43 [{'connected_gene': 'SLC4A7', 'score': 5.78}, {'connected_gene': 'GC03M027214', 'score': 0.34}, {'connected_gene': 'NEK10', 'score': 0.1}, {'connected_gene': 'GC03M026995', 'score': 0.08}]
chr3 GH03I027351 27351204 27353332 0.38 [{'connected_gene': 'SLC4A7', 'score': 5.28}, {'connected_gene': 'GC03M027342', 'score': 0.44}, {'connected_gene': 'GC03P027342', 'score': 0.39}, {'connected_gene': 'NEK10', 'score': 0.37}]
chr3 GH03I027479 27479258 27485667 2.42 [{'connected_gene': 'SLC4A7', 'score': 550.77}, {'connected_gene': 'RNU1-96P', 'score': 13.09}, {'connected_gene': 'NEK10', 'score': 9.98}, {'connected_gene': 'ZCWPW2', 'score': 4.77}, {'connected_gene': 'RPS20P15', 'score': 0.37}]
chr3 GH03I027520 27520949 27522444 1.29 [{'connected_gene': 'NEK10', 'score': 7.94}, {'connected_gene': 'SLC4A7', 'score': 5.57}, {'connected_gene': 'ENSG00000232167', 'score': 0.77}, {'connected_gene': 'RNU1-96P', 'score': 0.44}, {'connected_gene': 'LOC105377005', 'score': 0.39}]
chr3 GH03I027507 27507015 27508159 0.63 [{'connected_gene': 'NEK10', 'score': 8.65}, {'connected_gene': 'SLC4A7', 'score': 7.18}, {'connected_gene': 'GC03P027513', 'score': 0.44}, {'connected_gene': 'PIR51999', 'score': 0.34}]
chr3 GH03I027368 27368800 27369908 1.93 [{'connected_gene': 'NEK10', 'score': 550.77}, {'connected_gene': 'SLC4A7', 'score': 5.33}, {'connected_gene': 'GC03M027342', 'score': 0.34}, {'connected_gene': 'GC03P027342', 'score': 0.31}]
chr3 GH03I027164 27164590 27167682 0.43 [{'connected_gene': 'NEK10', 'score': 8.12}, {'connected_gene': 'SLC4A7', 'score': 5.0}, {'connected_gene': 'GC03M027214', 'score': 0.25}, {'connected_gene': 'GC03M026995', 'score': 0.1}]
chr3 GH03I027358 27358124 27361389 1.41 [{'connected_gene': 'NEK10', 'score': 12.51}, {'connected_gene': 'SLC4A7', 'score': 5.33}, {'connected_gene': 'GC03M027342', 'score': 0.39}, {'connected_gene': 'GC03P027342', 'score': 0.37}]
chr3 GH03I027316 27316911 27317679 0.85 [{'connected_gene': 'NEK10', 'score': 21.26}, {'connected_gene': 'RNU6-342P', 'score': 10.1}, {'connected_gene': 'CMC1', 'score': 8.87}, {'connected_gene': 'GC03P027342', 'score': 0.34}, {'connected_gene': 'GC03M027265', 'score': 0.23}]
chr3 GH03I027325 27325006 27327835 0.86 [{'connected_gene': 'NEK10', 'score': 22.36}, {'connected_gene': 'GC03P027342', 'score': 0.37}, {'connected_gene': 'RNU6-342P', 'score': 0.21}, {'connected_gene': 'GC03M027265', 'score': 0.21}]
chr3 GH03I027333 27333575 27334456 0.2 [{'connected_gene': 'NEK10', 'score': 10.21}, {'connected_gene': 'GC03P027342', 'score': 0.44}, {'connected_gene': 'RNU6-342P', 'score': 0.2}, {'connected_gene': 'GC03M027265', 'score': 0.2}]
chr3 GH03I027880 27880823 27882422 0.63 [{'connected_gene': 'NEK10', 'score': 4.47}, {'connected_gene': 'GC03P027907', 'score': 0.31}, {'connected_gene': 'LINC01981', 'score': 0.25}, {'connected_gene': 'LINC01980', 'score': 0.18}]
chr3 GH03I027467 27467401 27468299 0.83 [{'connected_gene': 'NEK10', 'score': 8.94}, {'connected_gene': 'RPS20P15', 'score': 0.44}, {'connected_gene': 'SLC4A7', 'score': 0.37}]
chr3 GH03I027423 27423570 27423719 0.31 [{'connected_gene': 'NEK10', 'score': 10.85}, {'connected_gene': 'GC03M027419', 'score': 0.77}, {'connected_gene': 'RPS20P15', 'score': 0.28}, {'connected_gene': 'SLC4A7', 'score': 0.21}, {'connected_gene': 'GC03P027342', 'score': 0.18}]
chr3 GH03I027430 27430730 27431829 0.62 [{'connected_gene': 'NEK10', 'score': 9.99}, {'connected_gene': 'GC03M027419', 'score': 0.39}, {'connected_gene': 'RPS20P15', 'score': 0.29}, {'connected_gene': 'SLC4A7', 'score': 0.23}, {'connected_gene': 'GC03P027342', 'score': 0.17}]
chr3 GH03I027357 27357790 27357939 0.93 [{'connected_gene': 'NEK10', 'score': 0.39}, {'connected_gene': 'GC03M027342', 'score': 0.39}, {'connected_gene': 'GC03P027342', 'score': 0.37}]
chr3 GH03I027350 27350001 27350200 0.72 [{'connected_gene': 'NEK10', 'score': 5.9}, {'connected_gene': 'GC03M027342', 'score': 0.77}, {'connected_gene': 'GC03P027342', 'score': 0.44}]
chr3 GH03I027073 27073543 27074998 0.43 [{'connected_gene': 'NEK10', 'score': 5.67}, {'connected_gene': 'GC03M026995', 'score': 0.18}, {'connected_gene': 'GC03M027214', 'score': 0.11}]
chr3 GH03I027043 27043179 27044273 0.31 [{'connected_gene': 'NEK10', 'score': 4.77}, {'connected_gene': 'GC03M026995', 'score': 0.25}, {'connected_gene': 'GC03M027214', 'score': 0.09}]
chr3 GH03I027543 27543796 27545840 1.24 [{'connected_gene': 'RNU1-96P', 'score': 12.43}, {'connected_gene': 'NEK10', 'score': 4.59}, {'connected_gene': 'GC03M027547', 'score': 0.77}, {'connected_gene': 'ENSG00000238912', 'score': 0.77}, {'connected_gene': 'LOC105377005', 'score': 0.39}]
chr3 GH03I027310 27310363 27312600 0.94 [{'connected_gene': 'RNU6-342P', 'score': 10.62}, {'connected_gene': 'NEK10', 'score': 6.77}, {'connected_gene': 'SLC4A7', 'score': 5.37}, {'connected_gene': 'GC03P027342', 'score': 0.29}, {'connected_gene': 'GC03M027265', 'score': 0.25}]
chr3 GH03I027531 27531661 27536931 1.6 [{'connected_gene': 'LOC105377005', 'score': 550.77}, {'connected_gene': 'RNU1-96P', 'score': 12.49}, {'connected_gene': 'NEK10', 'score': 7.38}, {'connected_gene': 'GC03M027547', 'score': 0.39}, {'connected_gene': 'ENSG00000238912', 'score': 0.39}]
chr3 GH03I027217 27217090 27217239 0.49 [{'connected_gene': 'LOC105377004', 'score': 550.77}, {'connected_gene': 'RNU6-342P', 'score': 0.25}, {'connected_gene': 'GC03M027265', 'score': 0.25}, {'connected_gene': 'NEK10', 'score': 0.1}]
chr3 GH03I027213 27213530 27213719 0.31 [{'connected_gene': 'MINOS1P3', 'score': 550.77}, {'connected_gene': 'GC03M027214', 'score': 550.77}, {'connected_gene': 'SLC4A7', 'score': 4.97}, {'connected_gene': 'NEK10', 'score': 0.1}, {'connected_gene': 'GC03M026995', 'score': 0.08}]
chr3 GH03I027216 27216483 27216542 0.68 [{'connected_gene': 'MINOS1P3', 'score': 550.77}, {'connected_gene': 'LOC105377004', 'score': 550.77}, {'connected_gene': 'GC03M027214', 'score': 550.77}, {'connected_gene': 'NEK10', 'score': 550.1}]
chr3 GH03I027407 27407193 27407532 0.34 [{'connected_gene': 'GC03M027419', 'score': 0.39}, {'connected_gene': 'NEK10', 'score': 0.28}, {'connected_gene': 'GC03P027342', 'score': 0.2}, {'connected_gene': 'SLC4A7', 'score': 0.18}]
chr3 GH03I027340 27340844 27342657 0.31 [{'connected_gene': 'GC03P027342', 'score': 550.77}, {'connected_gene': 'GC03M027342', 'score': 0.77}, {'connected_gene': 'NEK10', 'score': 0.31}, {'connected_gene': 'RNU6-342P', 'score': 0.18}, {'connected_gene': 'GC03M027265', 'score': 0.18}]
chr3 GH03I027353 27353616 27354522 0.31 [{'connected_gene': 'GC03M027342', 'score': 0.44}, {'connected_gene': 'GC03P027342', 'score': 0.39}, {'connected_gene': 'NEK10', 'score': 0.37}]
chr3 GH03I027344 27344820 27346467 0.69 [{'connected_gene': 'GC03M027342', 'score': 550.77}, {'connected_gene': 'NEK10', 'score': 12.54}, {'connected_gene': 'GC03P027342', 'score': 0.77}]
chr3 GH03I027355 27355116 27355381 0.42 [{'connected_gene': 'GC03M027342', 'score': 0.44}, {'connected_gene': 'NEK10', 'score': 0.39}, {'connected_gene': 'GC03P027342', 'score': 0.39}]

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