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
ENST00000296350 [[196728610, 196730322], [196730771, 196730970], [196733419, 196733607], [196735527, 196735595], [196735679, 196735836], [196736488, 196736683], [196737568, 196737665], [196742235, 196742387], [196743059, 196743240], [196743973, 196744161], [196748274, 196748342], [196749827, 196749984], [196751173, 196751356], [196753530, 196753630], [196754626, 196754781], [196756524, 196756687]] [[196730242, 196730322], [196730771, 196730970], [196733419, 196733607], [196735527, 196735595], [196735679, 196735836], [196736488, 196736683], [196737568, 196737665], [196742235, 196742387], [196743059, 196743240], [196743973, 196744161], [196748274, 196748342], [196749827, 196749984], [196751173, 196751356], [196753530, 196753630], [196754626, 196754781], [196756524, 196756573]]
ENST00000469783 [[196715491, 196716018], [196730771, 196731050]] None
ENST00000296351 [[196745823, 196746672], [196748274, 196748342], [196749827, 196749984], [196751173, 196751356], [196753530, 196753630], [196754626, 196754781], [196756524, 196756662]] [[196746475, 196746672], [196748274, 196748342], [196749827, 196749984], [196751173, 196751356], [196753530, 196753630], [196754626, 196754781], [196756524, 196756573]]
ENST00000489445 [[196748164, 196748342], [196749827, 196749966]] None
ENST00000439320 [[196750724, 196750781], [196751173, 196751356], [196753530, 196753630], [196754626, 196754781], [196756524, 196756658]] [[196750724, 196750781], [196751173, 196751356], [196753530, 196753630], [196754626, 196754781], [196756524, 196756573]]
ENST00000491399 [[196751205, 196751356], [196753530, 196753935]] None
ENST00000473501 [[196752412, 196753630], [196754626, 196756165]] None
NM_005929 [[196728610, 196730322], [196730771, 196730970], [196733419, 196733607], [196735527, 196735595], [196735679, 196735836], [196736488, 196736683], [196737568, 196737665], [196742235, 196742387], [196743059, 196743240], [196743973, 196744161], [196748274, 196748342], [196749827, 196749984], [196751173, 196751356], [196753530, 196753630], [196754626, 196754781], [196756524, 196756687]] [[196730242, 196730322], [196730771, 196730970], [196733419, 196733607], [196735527, 196735595], [196735679, 196735836], [196736488, 196736683], [196737568, 196737665], [196742235, 196742387], [196743059, 196743240], [196743973, 196744161], [196748274, 196748342], [196749827, 196749984], [196751173, 196751356], [196753530, 196753630], [196754626, 196754781], [196756524, 196756573]]
NM_033316 [[196745823, 196746672], [196748274, 196748342], [196749827, 196749984], [196751173, 196751356], [196753530, 196753630], [196754626, 196754781], [196756524, 196756686]] [[196746475, 196746672], [196748274, 196748342], [196749827, 196749984], [196751173, 196751356], [196753530, 196753630], [196754626, 196754781], [196756524, 196756573]]
Promoter
Chrom Start End Description
chr3 196730812 196730832 CAGE_peak_2_at_MFI2_5end
chr3 196731017 196731038 CAGE_peak_4_at_MFI2_5end
chr3 196731042 196731058 CAGE_peak_6_at_MFI2_5end
chr3 196731228 196731239 CAGE_peak_10_at_MFI2_5end
chr3 196731256 196731267 CAGE_peak_9_at_MFI2_5end
chr3 196756646 196756725 CAGE_peak_1_at_MFI2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I196653 196653152 196653280 0.57 [{'connected_gene': 'CEP19', 'score': 12.26}, {'connected_gene': 'MELTF-AS1', 'score': 9.94}, {'connected_gene': 'TM4SF19', 'score': 5.49}, {'connected_gene': 'NRROS', 'score': 3.99}, {'connected_gene': 'MELTF', 'score': 2.38}, {'connected_gene': 'RNF168', 'score': 1.4}, {'connected_gene': 'PIGX', 'score': 0.39}, {'connected_gene': 'GC03M196709', 'score': 0.22}]
chr3 GH03I196998 196998859 197000762 0.38 [{'connected_gene': 'RPSAP30', 'score': 550.77}, {'connected_gene': 'MELTF-AS1', 'score': 550.77}, {'connected_gene': 'SLC51A', 'score': 4.86}, {'connected_gene': 'MELTF', 'score': 0.29}]
chr3 GH03I196996 196996449 196997301 0.2 [{'connected_gene': 'RPSAP30', 'score': 0.77}, {'connected_gene': 'MELTF-AS1', 'score': 0.77}, {'connected_gene': 'RPSAP69', 'score': 0.44}, {'connected_gene': 'MELTF', 'score': 0.29}]
chr3 GH03I197057 197057785 197057872 0.22 [{'connected_gene': 'PIGX', 'score': 2.32}, {'connected_gene': 'CEP19', 'score': 2.14}, {'connected_gene': 'PAK2', 'score': 2.13}, {'connected_gene': 'MELTF', 'score': 0.31}, {'connected_gene': 'GC03M197138', 'score': 0.15}, {'connected_gene': 'DLG1', 'score': 0.07}]
chr3 GH03I197029 197028150 197028299 0.38 [{'connected_gene': 'MELTF', 'score': 550.77}, {'connected_gene': 'MELTF-AS1', 'score': 12.58}, {'connected_gene': 'NCBP2', 'score': 10.39}, {'connected_gene': 'NCBP2-AS1', 'score': 10.39}, {'connected_gene': 'GC03P197002', 'score': 0.31}]
chr3 GH03I197028 197028374 197032377 2.32 [{'connected_gene': 'MELTF', 'score': 555.37}, {'connected_gene': 'MELTF-AS1', 'score': 11.64}, {'connected_gene': 'DLG1', 'score': 7.72}, {'connected_gene': 'SENP5', 'score': 3.79}, {'connected_gene': 'NRROS', 'score': 2.08}, {'connected_gene': 'GC03M197138', 'score': 0.13}]
chr3 GH03I197150 197149801 197150400 0.31 [{'connected_gene': 'NCBP2', 'score': 10.61}, {'connected_gene': 'NCBP2-AS1', 'score': 10.6}, {'connected_gene': 'MELTF-AS1', 'score': 10.46}, {'connected_gene': 'MELTF', 'score': 6.04}, {'connected_gene': 'GC03M197138', 'score': 0.44}, {'connected_gene': 'DLG1', 'score': 0.11}]
chr3 GH03I197149 197149401 197149600 0.2 [{'connected_gene': 'NCBP2', 'score': 10.61}, {'connected_gene': 'NCBP2-AS1', 'score': 10.61}, {'connected_gene': 'MELTF-AS1', 'score': 10.46}, {'connected_gene': 'GC03M197138', 'score': 0.44}, {'connected_gene': 'MELTF', 'score': 0.13}, {'connected_gene': 'DLG1', 'score': 0.11}]
chr3 GH03I197305 197305396 197310539 1.53 [{'connected_gene': 'DLG1', 'score': 12.05}, {'connected_gene': 'MELTF', 'score': 6.83}, {'connected_gene': 'GC03M197310', 'score': 0.77}, {'connected_gene': 'GC03P197299', 'score': 0.44}]
chr3 GH03I197137 197137768 197138408 0.38 [{'connected_gene': 'DLG1', 'score': 32.25}, {'connected_gene': 'GC03M197138', 'score': 0.37}, {'connected_gene': 'MELTF', 'score': 0.14}]
chr3 GH03I197295 197295524 197300737 2.24 [{'connected_gene': 'DLG1', 'score': 567.5}, {'connected_gene': 'GC03P197299', 'score': 550.77}, {'connected_gene': 'DLG1-AS1', 'score': 550.77}, {'connected_gene': 'MELTF', 'score': 6.61}, {'connected_gene': 'CEP19', 'score': 4.88}, {'connected_gene': 'MIR4797', 'score': 0.77}]
chr3 GH03I196654 196654130 196655230 0.64 [{'connected_gene': 'LINC01063', 'score': 12.82}, {'connected_gene': 'RNU6-646P', 'score': 12.27}, {'connected_gene': 'CEP19', 'score': 12.26}, {'connected_gene': 'MELTF-AS1', 'score': 9.93}, {'connected_gene': 'SENP5', 'score': 3.59}, {'connected_gene': 'PCYT1A', 'score': 1.94}, {'connected_gene': 'NRROS', 'score': 1.85}, {'connected_gene': 'TM4SF19', 'score': 1.52}, {'connected_gene': 'MELTF', 'score': 1.14}, {'connected_gene': 'PIGX', 'score': 0.39}, {'connected_gene': 'GC03M196709', 'score': 0.23}]
chr3 GH03I196983 196983962 196991819 1.2 [{'connected_gene': 'RPSAP69', 'score': 550.77}, {'connected_gene': 'NCBP2', 'score': 10.64}, {'connected_gene': 'NCBP2-AS1', 'score': 10.64}, {'connected_gene': 'PIGZ', 'score': 8.97}, {'connected_gene': 'PAK2', 'score': 5.23}, {'connected_gene': 'RPSAP30', 'score': 0.39}, {'connected_gene': 'MELTF-AS1', 'score': 0.39}, {'connected_gene': 'MELTF', 'score': 0.26}]
chr3 GH03I197082 197082933 197084174 0.43 [{'connected_gene': 'MELTF-AS1', 'score': 10.4}, {'connected_gene': 'MELTF', 'score': 0.23}, {'connected_gene': 'GC03M197138', 'score': 0.19}, {'connected_gene': 'DLG1', 'score': 0.08}]
chr3 GH03I197215 197215770 197217034 0.77 [{'connected_gene': 'MELTF-AS1', 'score': 10.26}, {'connected_gene': 'MELTF', 'score': 5.28}, {'connected_gene': 'GC03P197175', 'score': 0.26}, {'connected_gene': 'MIR4797', 'score': 0.18}, {'connected_gene': 'DLG1', 'score': 0.18}]
chr3 GH03I197038 197038730 197038879 0.2 [{'connected_gene': 'MELTF-AS1', 'score': 11.31}, {'connected_gene': 'MELTF', 'score': 0.44}, {'connected_gene': 'GC03M197138', 'score': 0.13}]
chr3 GH03I197022 197022801 197024000 0.79 [{'connected_gene': 'MELTF-AS1', 'score': 12.61}, {'connected_gene': 'NCBP2', 'score': 10.4}, {'connected_gene': 'NCBP2-AS1', 'score': 10.4}, {'connected_gene': 'DLG1', 'score': 8.05}, {'connected_gene': 'MELTF', 'score': 0.44}, {'connected_gene': 'GC03P197002', 'score': 0.34}]
chr3 GH03I197212 197212294 197213028 0.31 [{'connected_gene': 'MELTF-AS1', 'score': 9.67}, {'connected_gene': 'DLG1', 'score': 6.9}, {'connected_gene': 'MELTF', 'score': 5.75}, {'connected_gene': 'GC03P197175', 'score': 0.28}, {'connected_gene': 'MIR4797', 'score': 0.18}]
chr3 GH03I197117 197117250 197117399 0.7 [{'connected_gene': 'MELTF-AS1', 'score': 10.5}, {'connected_gene': 'DLG1', 'score': 7.79}, {'connected_gene': 'GC03M197138', 'score': 0.26}, {'connected_gene': 'MELTF', 'score': 0.17}]
chr3 GH03I197181 197181601 197182200 0.57 [{'connected_gene': 'MELTF-AS1', 'score': 11.43}, {'connected_gene': 'NCBP2-AS1', 'score': 9.84}, {'connected_gene': 'NCBP2', 'score': 9.84}, {'connected_gene': 'DLG1', 'score': 7.32}, {'connected_gene': 'MELTF', 'score': 6.62}, {'connected_gene': 'GC03P197175', 'score': 0.44}, {'connected_gene': 'MIR4797', 'score': 0.14}]
chr3 GH03I197001 197001887 197005925 1.57 [{'connected_gene': 'GC03M197001', 'score': 550.77}, {'connected_gene': 'GC03P197002', 'score': 550.77}, {'connected_gene': 'PIGZ', 'score': 12.25}, {'connected_gene': 'ENSG00000234742', 'score': 10.57}, {'connected_gene': 'UBXN7', 'score': 9.74}, {'connected_gene': 'MELTF', 'score': 6.48}, {'connected_gene': 'RPSAP69', 'score': 5.73}, {'connected_gene': 'MELTF-AS1', 'score': 0.77}]
chr3 GH03I197428 197427060 197427260 0.63 [{'connected_gene': 'ENSG00000235126', 'score': 6.63}, {'connected_gene': 'MELTF', 'score': 1.37}, {'connected_gene': 'GC03M197355', 'score': 0.44}, {'connected_gene': 'LOC105374308', 'score': 0.29}, {'connected_gene': 'LOC101926923', 'score': 0.16}]
chr3 GH03I197006 197006170 197008938 0.69 [{'connected_gene': 'GC03P197002', 'score': 0.77}, {'connected_gene': 'MELTF', 'score': 0.34}]

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