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
ENST00000356554 [[117910070, 117911107], [117944807, 117945063], [117948170, 117948267], [117957334, 117957453], [117963190, 117963271], [117984852, 117984947], [118003110, 118003234], [118008955, 118009049], [118035768, 118035884], [118039384, 118039604], [118042003, 118042176], [118045476, 118045592], [118065446, 118071494]] [[117910805, 117911107], [117944807, 117945063], [117948170, 117948267], [117957334, 117957453], [117963190, 117963271], [117984852, 117984947], [118003110, 118003234], [118008955, 118009049], [118035768, 118035884], [118039384, 118039604], [118042003, 118042176], [118045476, 118045592], [118065446, 118065579]]
ENST00000449370 [[117963218, 117963271], [117984852, 117984947], [118003110, 118003234], [118008955, 118009049], [118035768, 118035884], [118039384, 118039604], [118042003, 118042176], [118045476, 118045592], [118057470, 118058561]] [[117963218, 117963271], [117984852, 117984947], [118003110, 118003234], [118008955, 118009049], [118035768, 118035884], [118039384, 118039604], [118042003, 118042176], [118045476, 118045592], [118057470, 118057474]]
ENST00000482811 [[117910564, 117911107], [117957334, 117957453], [117963190, 117963252]] None
ENST00000421535 [[118039401, 118039604], [118042003, 118042176], [118045476, 118045592], [118065446, 118065559], [118065871, 118065944]] [[118039401, 118039604], [118042003, 118042176], [118045476, 118045592], [118065446, 118065559], [118065871, 118065879]]
ENST00000422329 [[118045482, 118045592], [118065446, 118065559], [118067710, 118067974]] [[118045482, 118045592], [118065446, 118065559], [118067710, 118067781]]
NM_006699 [[117910084, 117911107], [117944807, 117945063], [117948170, 117948267], [117957334, 117957453], [117963190, 117963271], [117984852, 117984947], [118003110, 118003234], [118008955, 118009049], [118035768, 118035884], [118039384, 118039604], [118042003, 118042176], [118045476, 118045592], [118065446, 118068320]] [[117910805, 117911107], [117944807, 117945063], [117948170, 117948267], [117957334, 117957453], [117963190, 117963271], [117984852, 117984947], [118003110, 118003234], [118008955, 118009049], [118035768, 118035884], [118039384, 118039604], [118042003, 118042176], [118045476, 118045592], [118065446, 118065579]]
Promoter
Chrom Start End Description
chr1 117910011 117910024 CAGE_peak_4_at_MAN1A2_5end
chr1 117910030 117910041 CAGE_peak_7_at_MAN1A2_5end
chr1 117910047 117910131 CAGE_peak_1_at_MAN1A2_5end
chr1 117910132 117910146 CAGE_peak_3_at_MAN1A2_5end
chr1 117911045 117911063 CAGE_peak_5_at_MAN1A2_5end
chr1 117963183 117963195 CAGE_peak_6_at_MAN1A2_5end
chr1 117963209 117963245 CAGE_peak_2_at_MAN1A2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I116569 116569182 116572275 2.54 [{'connected_gene': 'CD58', 'score': 559.08}, {'connected_gene': 'MAN1A2', 'score': 11.52}, {'connected_gene': 'TRIM45', 'score': 9.93}, {'connected_gene': 'ATP1A1-AS1', 'score': 5.58}, {'connected_gene': 'ATP1A1', 'score': 4.84}, {'connected_gene': 'IGSF3', 'score': 4.41}, {'connected_gene': 'CD101', 'score': 3.64}, {'connected_gene': 'TTF2', 'score': 1.71}, {'connected_gene': 'MIR548AC', 'score': 0.39}]
chr1 GH01I116678 116678233 116681210 1.17 [{'connected_gene': 'ATP1A1-AS1', 'score': 19.72}, {'connected_gene': 'IGSF3', 'score': 15.3}, {'connected_gene': 'MAN1A2', 'score': 11.38}, {'connected_gene': 'MIR320B1', 'score': 0.44}, {'connected_gene': 'C1orf137', 'score': 0.39}]
chr1 GH01I116823 116823744 116828652 1.47 [{'connected_gene': 'ATP1A1-AS1', 'score': 27.63}, {'connected_gene': 'MAN1A2', 'score': 22.81}, {'connected_gene': 'IGSF3', 'score': 10.74}, {'connected_gene': 'CD2', 'score': 10.72}, {'connected_gene': 'PTGFRN', 'score': 10.63}, {'connected_gene': 'MIR320B1', 'score': 9.84}, {'connected_gene': 'FTH1P22', 'score': 0.23}, {'connected_gene': 'LOC105378927', 'score': 0.22}]
chr1 GH01I117058 117058483 117062843 2.07 [{'connected_gene': 'TTF2', 'score': 577.42}, {'connected_gene': 'LOC101929099', 'score': 556.39}, {'connected_gene': 'WDR3', 'score': 36.07}, {'connected_gene': 'GDAP2', 'score': 26.56}, {'connected_gene': 'MAN1A2', 'score': 11.41}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.46}, {'connected_gene': 'CD101', 'score': 4.92}, {'connected_gene': 'MIR942', 'score': 0.29}]
chr1 GH01I117262 117262767 117263955 0.31 [{'connected_gene': 'TRIM45', 'score': 10.2}, {'connected_gene': 'MAN1A2', 'score': 9.99}, {'connected_gene': 'VTCN1', 'score': 0.44}, {'connected_gene': 'ENSG00000277141', 'score': 0.37}]
chr1 GH01I117266 117266601 117272576 0.82 [{'connected_gene': 'VTCN1', 'score': 550.77}, {'connected_gene': 'TRIM45', 'score': 10.2}, {'connected_gene': 'MAN1A2', 'score': 10.0}, {'connected_gene': 'LINC01525', 'score': 4.82}, {'connected_gene': 'ENSG00000277141', 'score': 0.31}]
chr1 GH01I117171 117171493 117172733 0.62 [{'connected_gene': 'VTCN1', 'score': 11.0}, {'connected_gene': 'MAN1A2', 'score': 9.42}, {'connected_gene': 'RPS15AP9', 'score': 0.29}, {'connected_gene': 'ENSG00000277141', 'score': 0.19}]
chr1 GH01I116908 116908968 116912555 2.17 [{'connected_gene': 'PTGFRN', 'score': 550.77}, {'connected_gene': 'ENSG00000272715', 'score': 550.77}, {'connected_gene': 'MAN1A2', 'score': 11.54}, {'connected_gene': 'CD2', 'score': 9.86}, {'connected_gene': 'PIR48772', 'score': 0.25}]
chr1 GH01I117662 117662549 117666645 1.4 [{'connected_gene': 'FAM46C', 'score': 19.38}, {'connected_gene': 'ENSG00000212266', 'score': 12.38}, {'connected_gene': 'LOC100996263', 'score': 11.34}, {'connected_gene': 'MAN1A2', 'score': 3.67}, {'connected_gene': 'GC01P117648', 'score': 0.37}, {'connected_gene': 'GC01M117689', 'score': 0.34}]
chr1 GH01I116686 116686271 116688476 1.23 [{'connected_gene': 'IGSF3', 'score': 12.22}, {'connected_gene': 'MAN1A2', 'score': 11.38}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.49}, {'connected_gene': 'CD58', 'score': 10.07}, {'connected_gene': 'C1orf137', 'score': 0.44}, {'connected_gene': 'MIR320B1', 'score': 0.37}]
chr1 GH01I116877 116877161 116880253 1.54 [{'connected_gene': 'MAN1A2', 'score': 41.25}, {'connected_gene': 'ATP1A1-AS1', 'score': 39.48}, {'connected_gene': 'PTGFRN', 'score': 11.39}, {'connected_gene': 'CD2', 'score': 10.77}, {'connected_gene': 'CD101', 'score': 10.29}, {'connected_gene': 'TRIM45', 'score': 9.97}, {'connected_gene': 'TTF2', 'score': 1.63}, {'connected_gene': 'LOC105378927', 'score': 0.77}, {'connected_gene': 'FTH1P22', 'score': 0.15}]
chr1 GH01I116682 116682470 116683228 0.99 [{'connected_gene': 'MAN1A2', 'score': 11.38}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.5}, {'connected_gene': 'C1orf137', 'score': 0.39}, {'connected_gene': 'MIR320B1', 'score': 0.39}]
chr1 GH01I116845 116845653 116849693 1.33 [{'connected_gene': 'MAN1A2', 'score': 11.38}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.47}, {'connected_gene': 'LOC105378927', 'score': 0.29}, {'connected_gene': 'FTH1P22', 'score': 0.19}]
chr1 GH01I117363 117363341 117372182 2.29 [{'connected_gene': 'MAN1A2', 'score': 567.89}, {'connected_gene': 'GC01M117366', 'score': 550.77}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.25}, {'connected_gene': 'ENSG00000271427', 'score': 5.88}, {'connected_gene': 'LINC01525', 'score': 5.26}, {'connected_gene': 'GC01P117421', 'score': 0.23}]
chr1 GH01I117339 117339368 117340803 1.22 [{'connected_gene': 'MAN1A2', 'score': 12.11}, {'connected_gene': 'ENSG00000271427', 'score': 11.29}, {'connected_gene': 'TRIM45', 'score': 10.09}, {'connected_gene': 'CD58', 'score': 9.97}, {'connected_gene': 'GC01M117313', 'score': 0.37}, {'connected_gene': 'LINC01525', 'score': 0.26}]
chr1 GH01I117284 117284719 117284868 0.62 [{'connected_gene': 'MAN1A2', 'score': 9.89}, {'connected_gene': 'VTCN1', 'score': 0.39}, {'connected_gene': 'LINC01525', 'score': 0.39}]
chr1 GH01I117336 117336379 117336528 0.46 [{'connected_gene': 'MAN1A2', 'score': 15.28}, {'connected_gene': 'GC01M117313', 'score': 0.34}, {'connected_gene': 'LINC01525', 'score': 0.26}]
chr1 GH01I117362 117362212 117363288 0.38 [{'connected_gene': 'MAN1A2', 'score': 6.67}, {'connected_gene': 'ENSG00000271427', 'score': 5.0}, {'connected_gene': 'GC01M117313', 'score': 0.44}]
chr1 GH01I117651 117651583 117657615 1.73 [{'connected_gene': 'WDR3', 'score': 10.65}, {'connected_gene': 'FAM46C', 'score': 8.32}, {'connected_gene': 'MAN1A2', 'score': 3.66}, {'connected_gene': 'GDAP2', 'score': 1.55}, {'connected_gene': 'GC01P117648', 'score': 0.44}, {'connected_gene': 'GC01M117689', 'score': 0.29}, {'connected_gene': 'ENSG00000212266', 'score': 0.29}]
chr1 GH01I117820 117820074 117822770 1.17 [{'connected_gene': 'LOC105378929', 'score': 550.77}, {'connected_gene': 'MAN1A2', 'score': 11.4}, {'connected_gene': 'GC01P117819', 'score': 0.77}, {'connected_gene': 'PIR41120', 'score': 0.34}]
chr1 GH01I118294 118294710 118296042 0.76 [{'connected_gene': 'LOC101929147', 'score': 15.4}, {'connected_gene': 'MAN1A2', 'score': 11.38}, {'connected_gene': 'WARS2', 'score': 9.99}, {'connected_gene': 'RNA5SP56', 'score': 0.29}, {'connected_gene': 'GC01P118429', 'score': 0.12}]
chr1 GH01I117128 117128401 117129000 0.56 [{'connected_gene': 'MIR942', 'score': 10.37}, {'connected_gene': 'TTF2', 'score': 10.28}, {'connected_gene': 'MAN1A2', 'score': 9.43}, {'connected_gene': 'VTCN1', 'score': 8.28}, {'connected_gene': 'TRIM45', 'score': 0.44}, {'connected_gene': 'RPS15AP9', 'score': 0.44}]
chr1 GH01I117658 117658024 117661734 1.6 [{'connected_gene': 'ENSG00000212266', 'score': 11.38}, {'connected_gene': 'FAM46C', 'score': 7.86}, {'connected_gene': 'MAN1A2', 'score': 3.1}, {'connected_gene': 'GC01P117648', 'score': 0.39}, {'connected_gene': 'GC01M117689', 'score': 0.31}]
chr1 GH01I117501 117501014 117502004 0.31 [{'connected_gene': 'ENSG00000212266', 'score': 10.38}, {'connected_gene': 'ENSG00000279513', 'score': 0.44}, {'connected_gene': 'GC01P117527', 'score': 0.31}, {'connected_gene': 'MAN1A2', 'score': 0.12}]