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
ENST00000403712 [[218135, 219001], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [263983, 264032]] [[218810, 219001], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [263983, 263984]]
ENST00000463865 [[218148, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [264083, 264392]] None
ENST00000473104 [[218152, 219001], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [243502, 243562], [247537, 247602], [249730, 249844], [253004, 253115], [260084, 260702], [262630, 262786]] None
ENST00000405430 [[218152, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [262630, 262750], [263210, 263372], [264083, 264179]] [[218810, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [262630, 262631]]
ENST00000356150 [[218157, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [263983, 264065]] [[218810, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [263983, 263984]]
ENST00000403658 [[218665, 219001], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [242797, 242871], [243502, 243562], [247537, 247602], [249730, 249844], [253004, 253115], [264781, 264810]] [[218810, 219001], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [242797, 242800]]
ENST00000468321 [[218772, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [260084, 261130], [262200, 262786], [264702, 264743]] None
ENST00000471948 [[230377, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [263210, 263983]] None
ENST00000488044 [[231136, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [264781, 264866]] None
ENST00000488979 [[233118, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [264541, 264568]] None
ENST00000475027 [[233122, 233229], [234159, 234272], [243502, 243562], [247537, 247602], [249730, 249844], [253004, 253115], [264781, 264810]] None
ENST00000454318 [[233168, 233229], [234159, 234272], [242797, 242871], [247537, 247602], [249730, 249844], [253004, 253115], [264781, 264824]] [[233168, 233229], [234159, 234272], [242797, 242800]]
ENST00000402632 [[239560, 242176], [243502, 243562], [247537, 247602], [249730, 249844], [253004, 253115], [262630, 262786], [264781, 264810]] [[243508, 243562], [247537, 247602], [249730, 249844], [253004, 253115], [262630, 262631]]
ENST00000415368 [[249804, 249844], [253004, 253115], [262630, 262786], [263210, 263368], [264781, 264810]] [[249804, 249844], [253004, 253115], [262630, 262631]]
ENST00000462719 [[260256, 260720], [266293, 266398]] None
ENST00000465733 [[260342, 260702], [263210, 263372], [264781, 264810]] None
ENST00000477707 [[260511, 260702], [263210, 263372], [263563, 263762], [264781, 264810]] None
ENST00000472861 [[260803, 260897], [262630, 262786], [263210, 263372], [264781, 264810]] None
ENST00000460974 [[217729, 218108], [218745, 218866]] None
ENST00000415006 [[218137, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [242797, 242800]] [[218810, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [242797, 242800]]
ENST00000403657 [[218150, 219001], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [242797, 242871], [244626, 244738], [247537, 247602], [249730, 249844], [253004, 253115], [256206, 256690], [260084, 261323]] [[218810, 219001], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [242797, 242800]]
ENST00000479739 [[218779, 219001], [229965, 230044], [230546, 231191], [233100, 233229], [234159, 234272], [242797, 242871], [243502, 243562], [247537, 247602], [249730, 249844], [253004, 253115], [260084, 260708]] [[230968, 231191], [233100, 233229], [234159, 234272], [242797, 242800]]
ENST00000451005 [[218796, 219001], [229965, 230044], [231022, 231191], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253041]] [[218810, 219001], [229965, 230044], [231022, 231191], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253041]]
ENST00000472012 [[222360, 222954], [224867, 224920], [229965, 230044], [231022, 231159]] None
ENST00000431160 [[229893, 230044], [231022, 231191], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253113]] [[229921, 230044], [231022, 231191], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253113]]
ENST00000481932 [[230378, 231191], [234159, 234231]] [[230968, 231191], [234159, 234231]]
ENST00000497051 [[232914, 233229], [234159, 234272], [247537, 247602], [249730, 249770]] None
ENST00000602998 [[255875, 256377]] None
ENST00000605370 [[259422, 260292]] None
NR_104226 [[218135, 219001], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [243502, 243562], [247537, 247602], [249730, 249844], [253004, 253115], [260084, 260702], [262630, 262786]] None
NM_015677 [[218135, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [263983, 264097]] [[218810, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [263983, 263984]]
NM_001159597 [[218135, 219001], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [263983, 264097]] [[218810, 219001], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [263983, 263984]]
NR_104225 [[218135, 219001], [224867, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [264083, 264392]] None
NR_104223 [[218135, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [247537, 247602], [249730, 249844], [253004, 253115], [260084, 261130], [262200, 262786], [264702, 264743]] None
NM_001282682 [[218135, 219001], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [242797, 242871], [243502, 243562], [247537, 247602], [249730, 249844], [253004, 253115], [264781, 264866]] [[218810, 219001], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [242797, 242800]]
NR_104224 [[239560, 242176], [243502, 243562], [247537, 247602], [249730, 249844], [253004, 253115], [262630, 262786], [264781, 264866]] None
NM_001282687 [[218135, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [242797, 242871], [243502, 243562], [247537, 247602], [249730, 249844], [253004, 253115], [256206, 256340]] [[218810, 219001], [224863, 224920], [229965, 230044], [231022, 231191], [233100, 233229], [234159, 234272], [242797, 242800]]
NR_104227 [[218135, 219001], [229965, 230044], [230546, 231191], [233100, 233229], [234159, 234272], [242797, 242871], [243502, 243562], [247537, 247602], [249730, 249844], [253004, 253115], [260084, 261130]] None
Promoter
Chrom Start End Description
chr2 264024 264043 CAGE_peak_1_at_SH3YL1_5end
chr2 264557 264588 CAGE_peak_4_at_SH3YL1_5end
chr2 264772 264829 CAGE_peak_2_at_SH3YL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I000043 43001 48004 2.23 [{'connected_gene': 'FAM110C', 'score': 550.77}, {'connected_gene': 'SH3YL1', 'score': 23.66}]
chr2 GH02I000289 289159 290426 1.52 [{'connected_gene': 'ALKAL2', 'score': 567.29}, {'connected_gene': 'SH3YL1', 'score': 32.77}, {'connected_gene': 'LOC101927262', 'score': 0.77}, {'connected_gene': 'ENSG00000277997', 'score': 0.37}]
chr2 GH02I000214 214401 214600 0.31 [{'connected_gene': 'ALKAL2', 'score': 17.19}, {'connected_gene': 'SH3YL1', 'score': 9.19}, {'connected_gene': 'GC02M000195', 'score': 0.37}, {'connected_gene': 'GC02M000239', 'score': 0.31}]
chr2 GH02I000033 33007 39505 1.02 [{'connected_gene': 'ALKAL2', 'score': 10.05}, {'connected_gene': 'LOC101927262', 'score': 10.05}, {'connected_gene': 'FAM110C', 'score': 5.93}, {'connected_gene': 'LOC105373346', 'score': 4.18}, {'connected_gene': 'SH3YL1', 'score': 4.04}]
chr2 GH02I000019 19332 20630 0.63 [{'connected_gene': 'SH3YL1', 'score': 5.82}, {'connected_gene': 'FAM110C', 'score': 0.31}]
chr2 GH02I000030 30530 31042 0.2 [{'connected_gene': 'SH3YL1', 'score': 22.31}, {'connected_gene': 'FAM110C', 'score': 0.37}]
chr2 GH02I000260 260077 266709 2.28 [{'connected_gene': 'SH3YL1', 'score': 623.98}, {'connected_gene': 'ACP1', 'score': 550.77}, {'connected_gene': 'ALKAL2', 'score': 30.9}, {'connected_gene': 'TMEM18', 'score': 14.13}, {'connected_gene': 'LOC101927262', 'score': 11.87}, {'connected_gene': 'ENSG00000227061', 'score': 6.29}, {'connected_gene': 'GC02M000255', 'score': 0.44}]
chr2 GH02I000460 460366 461643 0.43 [{'connected_gene': 'SH3YL1', 'score': 10.77}, {'connected_gene': 'ACP1', 'score': 10.76}, {'connected_gene': 'ALKAL2', 'score': 9.94}, {'connected_gene': 'LOC101927262', 'score': 9.94}, {'connected_gene': 'GC02M000435', 'score': 0.34}, {'connected_gene': 'ENSG00000226277', 'score': 0.28}]
chr2 GH02I000249 249787 249846 1.2 [{'connected_gene': 'SH3YL1', 'score': 550.37}, {'connected_gene': 'ALKAL2', 'score': 11.26}, {'connected_gene': 'LOC101927262', 'score': 11.26}, {'connected_gene': 'TMEM18', 'score': 10.76}, {'connected_gene': 'LOC105373354', 'score': 10.76}, {'connected_gene': 'GC02M000239', 'score': 0.44}, {'connected_gene': 'GC02M000255', 'score': 0.44}]
chr2 GH02I000280 280003 281662 0.38 [{'connected_gene': 'SH3YL1', 'score': 70.67}, {'connected_gene': 'ALKAL2', 'score': 19.43}, {'connected_gene': 'ENSG00000227061', 'score': 6.74}, {'connected_gene': 'LOC101927262', 'score': 0.44}]
chr2 GH02I000174 174741 178038 1.12 [{'connected_gene': 'SH3YL1', 'score': 31.13}, {'connected_gene': 'ENSG00000227061', 'score': 17.65}, {'connected_gene': 'LOC105373324', 'score': 0.39}, {'connected_gene': 'GC02P000127', 'score': 0.25}]
chr2 GH02I000282 282169 283073 0.2 [{'connected_gene': 'SH3YL1', 'score': 9.33}, {'connected_gene': 'LOC101927262', 'score': 0.77}, {'connected_gene': 'ALKAL2', 'score': 0.44}]
chr2 GH02I000068 68429 72720 0.95 [{'connected_gene': 'SH3YL1', 'score': 23.01}, {'connected_gene': 'GC02M000074', 'score': 0.44}, {'connected_gene': 'GC02P000061', 'score': 0.44}]
chr2 GH02I000314 314323 314661 0.22 [{'connected_gene': 'LOC105373346', 'score': 560.85}, {'connected_gene': 'LINC01865', 'score': 550.77}, {'connected_gene': 'ALKAL2', 'score': 10.95}, {'connected_gene': 'LOC101927262', 'score': 10.95}, {'connected_gene': 'SH3YL1', 'score': 10.86}, {'connected_gene': 'ACP1', 'score': 10.84}]
chr2 GH02I000246 246393 247302 0.72 [{'connected_gene': 'LOC101927262', 'score': 11.26}, {'connected_gene': 'ALKAL2', 'score': 11.25}, {'connected_gene': 'TMEM18', 'score': 10.76}, {'connected_gene': 'LOC105373354', 'score': 10.76}, {'connected_gene': 'GC02M000239', 'score': 0.77}, {'connected_gene': 'GC02M000255', 'score': 0.44}, {'connected_gene': 'SH3YL1', 'score': 0.37}]
chr2 GH02I000923 923984 926184 0.43 [{'connected_gene': 'LOC101060391', 'score': 13.31}, {'connected_gene': 'SNTG2', 'score': 13.31}, {'connected_gene': 'SH3YL1', 'score': 5.64}, {'connected_gene': 'LINC01939', 'score': 5.34}, {'connected_gene': 'ENSG00000234796', 'score': 0.77}, {'connected_gene': 'GC02P000941', 'score': 0.37}]
chr2 GH02I000041 41118 41731 0.38 [{'connected_gene': 'ENSG00000227061', 'score': 4.58}, {'connected_gene': 'SH3YL1', 'score': 4.0}, {'connected_gene': 'FAM110C', 'score': 0.44}]
chr2 GH02I000148 148750 152854 0.43 [{'connected_gene': 'ENSG00000227061', 'score': 16.86}, {'connected_gene': 'SH3YL1', 'score': 16.73}, {'connected_gene': 'ALKAL2', 'score': 11.6}, {'connected_gene': 'GC02P000127', 'score': 0.34}, {'connected_gene': 'LOC105373324', 'score': 0.28}]
chr2 GH02I000308 308988 309816 0.6 [{'connected_gene': 'ENSG00000277997', 'score': 550.77}, {'connected_gene': 'SH3YL1', 'score': 17.31}, {'connected_gene': 'ALKAL2', 'score': 11.62}, {'connected_gene': 'LOC101927262', 'score': 11.62}, {'connected_gene': 'ACP1', 'score': 10.65}, {'connected_gene': 'TMEM18', 'score': 10.48}, {'connected_gene': 'LOC105373346', 'score': 5.71}]
chr2 GH02I000192 192665 194262 0.72 [{'connected_gene': 'ENSG00000227061', 'score': 8.1}, {'connected_gene': 'SH3YL1', 'score': 5.16}, {'connected_gene': 'LOC105373324', 'score': 0.77}]
chr2 GH02I000393 393341 394930 1.16 [{'connected_gene': 'GC02P000395', 'score': 550.77}, {'connected_gene': 'SH3YL1', 'score': 1.76}, {'connected_gene': 'ENSG00000236856', 'score': 0.44}]

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