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
ENST00000418404 [[10201400, 10201473], [10204025, 10204282], [10204885, 10205020], [10206512, 10206608], [10206710, 10206815], [10209775, 10209946], [10210255, 10210381], [10212550, 10212754], [10212838, 10213147], [10214419, 10214544], [10215227, 10215393], [10215890, 10216074], [10216474, 10216671], [10219009, 10219128], [10219215, 10219342], [10222106, 10222496], [10223469, 10223560], [10223667, 10223813], [10224848, 10225025], [10227338, 10227581], [10231182, 10231438], [10233703, 10233840], [10235415, 10235539], [10236390, 10236508], [10243466, 10243554], [10243644, 10243718], [10247116, 10247426], [10248518, 10248689], [10248783, 10248933], [10249996, 10250115], [10253872, 10254011], [10257996, 10258100], [10258211, 10258310], [10258400, 10258464], [10261051, 10261144], [10263276, 10263388], [10263477, 10263505], [10265434, 10265591], [10265676, 10265820], [10267643, 10267859], [10276295, 10276447]] [[10204267, 10204282], [10204885, 10205020], [10206512, 10206608], [10206710, 10206815], [10209775, 10209946], [10210255, 10210381], [10212550, 10212754], [10212838, 10213147], [10214419, 10214544], [10215227, 10215393], [10215890, 10216074], [10216474, 10216671], [10219009, 10219128], [10219215, 10219342], [10222106, 10222496], [10223469, 10223560], [10223667, 10223813], [10224848, 10225025], [10227338, 10227581], [10231182, 10231438], [10233703, 10233840], [10235415, 10235539], [10236390, 10236508], [10243466, 10243554], [10243644, 10243718], [10247116, 10247426], [10248518, 10248689], [10248783, 10248933], [10249996, 10250115], [10253872, 10254011], [10257996, 10258100], [10258211, 10258310], [10258400, 10258464], [10261051, 10261144], [10263276, 10263388], [10263477, 10263505], [10265434, 10265591], [10265676, 10265820], [10267643, 10267847]]
ENST00000252172 [[10204182, 10204282], [10204885, 10205020], [10206512, 10206608], [10206710, 10206815], [10209775, 10209946], [10210255, 10210381], [10212550, 10212754], [10212838, 10213147], [10214419, 10214544], [10215227, 10215393], [10215890, 10216074], [10216474, 10216671], [10219009, 10219128], [10219215, 10219342], [10222106, 10222496], [10223469, 10223560], [10223667, 10223813], [10224848, 10225025], [10227338, 10227581], [10231182, 10231438], [10233703, 10233840], [10235415, 10235539], [10236390, 10236508], [10243466, 10243554], [10243644, 10243718], [10247116, 10247426], [10248518, 10248689], [10248783, 10248933], [10249996, 10250115], [10253872, 10254011], [10257996, 10258100], [10258211, 10258310], [10258400, 10258464], [10261051, 10261144], [10263276, 10263388], [10263477, 10263505], [10265434, 10265591], [10265676, 10265820], [10267643, 10267859], [10274525, 10274576], [10276295, 10276322]] [[10204267, 10204282], [10204885, 10205020], [10206512, 10206608], [10206710, 10206815], [10209775, 10209946], [10210255, 10210381], [10212550, 10212754], [10212838, 10213147], [10214419, 10214544], [10215227, 10215393], [10215890, 10216074], [10216474, 10216671], [10219009, 10219128], [10219215, 10219342], [10222106, 10222496], [10223469, 10223560], [10223667, 10223813], [10224848, 10225025], [10227338, 10227581], [10231182, 10231438], [10233703, 10233840], [10235415, 10235539], [10236390, 10236508], [10243466, 10243554], [10243644, 10243718], [10247116, 10247426], [10248518, 10248689], [10248783, 10248933], [10249996, 10250115], [10253872, 10254011], [10257996, 10258100], [10258211, 10258310], [10258400, 10258464], [10261051, 10261144], [10263276, 10263388], [10263477, 10263505], [10265434, 10265591], [10265676, 10265820], [10267643, 10267847]]
NM_003802 [[10204182, 10204282], [10204885, 10205020], [10206512, 10206608], [10206710, 10206815], [10209775, 10209946], [10210255, 10210381], [10212550, 10212754], [10212838, 10213147], [10214419, 10214544], [10215227, 10215393], [10215890, 10216074], [10216474, 10216671], [10219009, 10219128], [10219215, 10219342], [10222106, 10222496], [10223469, 10223560], [10223667, 10223813], [10224848, 10225025], [10227338, 10227581], [10231182, 10231438], [10233703, 10233840], [10235415, 10235539], [10236390, 10236508], [10243466, 10243554], [10243644, 10243718], [10247116, 10247426], [10248518, 10248689], [10248783, 10248933], [10249996, 10250115], [10253872, 10254011], [10257996, 10258100], [10258211, 10258310], [10258400, 10258464], [10261051, 10261144], [10263276, 10263388], [10263477, 10263505], [10265434, 10265591], [10265676, 10265820], [10267643, 10267859], [10274525, 10274576], [10276295, 10276322]] [[10204267, 10204282], [10204885, 10205020], [10206512, 10206608], [10206710, 10206815], [10209775, 10209946], [10210255, 10210381], [10212550, 10212754], [10212838, 10213147], [10214419, 10214544], [10215227, 10215393], [10215890, 10216074], [10216474, 10216671], [10219009, 10219128], [10219215, 10219342], [10222106, 10222496], [10223469, 10223560], [10223667, 10223813], [10224848, 10225025], [10227338, 10227581], [10231182, 10231438], [10233703, 10233840], [10235415, 10235539], [10236390, 10236508], [10243466, 10243554], [10243644, 10243718], [10247116, 10247426], [10248518, 10248689], [10248783, 10248933], [10249996, 10250115], [10253872, 10254011], [10257996, 10258100], [10258211, 10258310], [10258400, 10258464], [10261051, 10261144], [10263276, 10263388], [10263477, 10263505], [10265434, 10265591], [10265676, 10265820], [10267643, 10267847]]
Promoter
Chrom Start End Description
chr17 10276319 10276324 CAGE_peak_1_at_MYH13_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I009899 9899581 9902423 0.76 [{'connected_gene': 'MYH13', 'score': 10.25}, {'connected_gene': 'RCVRN', 'score': 8.9}, {'connected_gene': 'GC17P009878', 'score': 0.34}]
chr17 GH17I009900 9899424 9899573 0.43 [{'connected_gene': 'MYH13', 'score': 10.25}, {'connected_gene': 'RCVRN', 'score': 0.44}, {'connected_gene': 'GC17P009878', 'score': 0.34}]
chr17 GH17I010338 10338104 10338253 0.2 [{'connected_gene': 'MYH13', 'score': 12.31}, {'connected_gene': 'MYH8', 'score': 10.47}, {'connected_gene': 'GC17P010345', 'score': 0.44}, {'connected_gene': 'ENSG00000264067', 'score': 0.37}, {'connected_gene': 'GC17P010287', 'score': 0.23}]
chr17 GH17I010317 10317323 10317594 0.69 [{'connected_gene': 'MYH13', 'score': 7.68}, {'connected_gene': 'MYH4', 'score': 2.06}, {'connected_gene': 'GAS7', 'score': 1.33}, {'connected_gene': 'ENSG00000264067', 'score': 0.77}, {'connected_gene': 'PIR47100', 'score': 0.44}, {'connected_gene': 'ENSG00000273388', 'score': 0.31}, {'connected_gene': 'GC17P010287', 'score': 0.29}]
chr17 GH17I010417 10417336 10418599 0.2 [{'connected_gene': 'MYH13', 'score': 11.36}, {'connected_gene': 'MYH4', 'score': 11.08}, {'connected_gene': 'MYH8', 'score': 0.77}, {'connected_gene': 'GC17P010421', 'score': 0.77}, {'connected_gene': 'MYHAS', 'score': 0.29}, {'connected_gene': 'ENSG00000272736', 'score': 0.29}]
chr17 GH17I010295 10295864 10296013 0.63 [{'connected_gene': 'MYH13', 'score': 11.07}, {'connected_gene': 'ENSG00000273388', 'score': 0.77}, {'connected_gene': 'GC17P010287', 'score': 0.44}, {'connected_gene': 'PIR47100', 'score': 0.37}]
chr17 GH17I010327 10327684 10327833 0.66 [{'connected_gene': 'MYH13', 'score': 11.6}, {'connected_gene': 'ENSG00000271851', 'score': 11.05}, {'connected_gene': 'ENSG00000264067', 'score': 0.44}, {'connected_gene': 'GC17P010345', 'score': 0.37}, {'connected_gene': 'GC17P010287', 'score': 0.26}]
chr17 GH17I010372 10372995 10373054 0.5 [{'connected_gene': 'MYH13', 'score': 550.77}, {'connected_gene': 'PIR33488', 'score': 0.34}]
chr17 GH17I010420 10420041 10422133 0.7 [{'connected_gene': 'MYH8', 'score': 550.77}, {'connected_gene': 'GC17P010421', 'score': 550.77}, {'connected_gene': 'MYH13', 'score': 11.34}, {'connected_gene': 'MYH4', 'score': 11.09}, {'connected_gene': 'MYHAS', 'score': 0.28}, {'connected_gene': 'ENSG00000272736', 'score': 0.28}]
chr17 GH17I010379 10379864 10381716 0.31 [{'connected_gene': 'MYH8', 'score': 11.59}, {'connected_gene': 'MYH4', 'score': 10.88}, {'connected_gene': 'MYHAS', 'score': 0.77}, {'connected_gene': 'ENSG00000272736', 'score': 0.77}, {'connected_gene': 'MYH13', 'score': 0.44}]
chr17 GH17I010333 10333971 10334234 0.22 [{'connected_gene': 'MYH4', 'score': 15.31}, {'connected_gene': 'ENSG00000264067', 'score': 0.39}, {'connected_gene': 'GC17P010345', 'score': 0.39}, {'connected_gene': 'MYH13', 'score': 0.28}, {'connected_gene': 'GC17P010287', 'score': 0.25}]
chr17 GH17I010291 10291524 10293129 0.77 [{'connected_gene': 'ENSG00000273388', 'score': 550.77}, {'connected_gene': 'MYH13', 'score': 11.39}, {'connected_gene': 'GC17P010287', 'score': 0.44}, {'connected_gene': 'PIR47100', 'score': 0.37}]
chr17 GH17I009918 9918662 9919083 0.58 [{'connected_gene': 'GC17P009918', 'score': 550.77}, {'connected_gene': 'RCVRN', 'score': 16.45}, {'connected_gene': 'MYH13', 'score': 2.56}, {'connected_gene': 'GC17M009941', 'score': 0.34}, {'connected_gene': 'GAS7', 'score': 0.06}]