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
ENST00000525102 [[118894823, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898582], [118898903, 118899136], [118899931, 118900274], [118900941, 118901445], [118901558, 118901616]] None
ENST00000357590 [[118895062, 118895786], [118895900, 118896039], [118896401, 118896467], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898437], [118898438, 118898582], [118898903, 118899136], [118899931, 118900274], [118901257, 118901445], [118901558, 118901616]] [[118895619, 118895786], [118895900, 118896039], [118896401, 118896467], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898437], [118898438, 118898582], [118898903, 118899136], [118899931, 118900079]]
ENST00000538950 [[118895062, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898437], [118898438, 118898582], [118898903, 118899136], [118899444, 118899544], [118900101, 118900274], [118901558, 118901616]] [[118895619, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898437], [118898438, 118898582], [118898903, 118899065]]
ENST00000545985 [[118895062, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898437], [118898438, 118898582], [118898903, 118899136], [118899931, 118900274], [118900941, 118901445], [118901558, 118901616]] [[118895619, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898437], [118898438, 118898582], [118898903, 118899136], [118899931, 118900079]]
ENST00000526275 [[118895065, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118899744]] None
ENST00000330775 [[118895065, 118895786], [118895900, 118896039], [118896401, 118896467], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898434], [118898438, 118898582], [118898903, 118899136], [118899931, 118900274], [118901558, 118901571]] [[118895619, 118895786], [118895900, 118896039], [118896401, 118896467], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898434], [118898438, 118898582], [118898903, 118899136], [118899931, 118900079]]
ENST00000532085 [[118895065, 118895786], [118895900, 118897805], [118898337, 118901573]] None
ENST00000527992 [[118895097, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898582], [118898903, 118899136], [118899931, 118900274], [118901558, 118901590]] None
ENST00000530407 [[118895587, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898582], [118898903, 118899136], [118899444, 118899544], [118900101, 118900274], [118901558, 118901582]] None
ENST00000525372 [[118895619, 118895786], [118895900, 118896039], [118896676, 118896790], [118897215, 118897398], [118897646, 118897805], [118898337, 118898582], [118898903, 118899136], [118899931, 118900079]] None
ENST00000524428 [[118895619, 118895786], [118895900, 118896039], [118896676, 118896790], [118897646, 118897805], [118898337, 118899136], [118899931, 118900079]] None
ENST00000525039 [[118895619, 118895786], [118895900, 118896039], [118896401, 118896467], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898582], [118898903, 118899136], [118899931, 118900274], [118901257, 118901445], [118901558, 118901598]] None
ENST00000529510 [[118895861, 118896039], [118896676, 118896790], [118897646, 118897805], [118898903, 118899136], [118899931, 118900097]] None
ENST00000532888 [[118897375, 118897805], [118898337, 118898582], [118898903, 118899136], [118899444, 118899544], [118899931, 118900274]] None
ENST00000526626 [[118897663, 118897805], [118898337, 118898582], [118899931, 118900274]] None
ENST00000525787 [[118898521, 118899136], [118899931, 118900374]] None
ENST00000534384 [[118898950, 118899136], [118899931, 118900274], [118900625, 118900650]] None
NM_001164280 [[118895060, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898435], [118898436, 118898582], [118898903, 118899136], [118899931, 118900278]] [[118895619, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898435], [118898436, 118898582], [118898903, 118899136], [118899931, 118900079]]
NM_001164277 [[118895060, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898435], [118898436, 118898582], [118898903, 118899136], [118899931, 118900274], [118900941, 118901445], [118901558, 118901616]] [[118895619, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898435], [118898436, 118898582], [118898903, 118899136], [118899931, 118900079]]
NM_001164278 [[118895060, 118895786], [118895900, 118896039], [118896401, 118896467], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898435], [118898436, 118898582], [118898903, 118899136], [118899931, 118900274], [118901257, 118901445], [118901558, 118901616]] [[118895619, 118895786], [118895900, 118896039], [118896401, 118896467], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898435], [118898436, 118898582], [118898903, 118899136], [118899931, 118900079]]
NM_001467 [[118895060, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898435], [118898436, 118898582], [118898903, 118899136], [118899931, 118900274], [118901558, 118901616]] [[118895619, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898435], [118898436, 118898582], [118898903, 118899136], [118899931, 118900079]]
NM_001164279 [[118895060, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898435], [118898436, 118898582], [118898903, 118899136], [118899444, 118899544], [118900101, 118900274], [118901558, 118901616]] [[118895619, 118895786], [118895900, 118896039], [118896676, 118896790], [118897312, 118897398], [118897646, 118897805], [118898337, 118898435], [118898436, 118898582], [118898903, 118899065]]
Promoter
Chrom Start End Description
chr11 118900180 118900195 CAGE_peak_3_at_SLC37A4_5end
chr11 118901559 118901621 CAGE_peak_1_at_SLC37A4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I119076 119076663 119079195 0.2 [{'connected_gene': 'VPS11', 'score': 30.51}, {'connected_gene': 'HMBS', 'score': 16.07}, {'connected_gene': 'C2CD2L', 'score': 13.16}, {'connected_gene': 'DPAGT1', 'score': 13.12}, {'connected_gene': 'HYOU1', 'score': 12.66}, {'connected_gene': 'ENSG00000255114', 'score': 12.62}, {'connected_gene': 'SLC37A4', 'score': 12.05}, {'connected_gene': 'RPS25', 'score': 12.03}, {'connected_gene': 'TRAPPC4', 'score': 12.03}, {'connected_gene': 'HINFP', 'score': 10.86}, {'connected_gene': 'NLRX1', 'score': 10.74}, {'connected_gene': 'UPK2', 'score': 9.68}, {'connected_gene': 'RN7SL688P', 'score': 9.3}, {'connected_gene': 'BCL9L', 'score': 9.29}, {'connected_gene': 'ENSG00000271751', 'score': 6.46}, {'connected_gene': 'ENSG00000272186', 'score': 0.39}]
chr11 GH11I119066 119066571 119068801 2.06 [{'connected_gene': 'VPS11', 'score': 587.92}, {'connected_gene': 'ENSG00000272186', 'score': 550.77}, {'connected_gene': 'DPAGT1', 'score': 24.02}, {'connected_gene': 'HMBS', 'score': 16.77}, {'connected_gene': 'ARCN1', 'score': 13.31}, {'connected_gene': 'H2AFX', 'score': 12.96}, {'connected_gene': 'C2CD2L', 'score': 12.94}, {'connected_gene': 'KMT2A', 'score': 12.53}, {'connected_gene': 'ENSG00000254909', 'score': 12.38}, {'connected_gene': 'SLC37A4', 'score': 12.37}, {'connected_gene': 'RPS25', 'score': 12.34}, {'connected_gene': 'TRAPPC4', 'score': 12.34}, {'connected_gene': 'UBE4A', 'score': 11.86}, {'connected_gene': 'RPL5P30', 'score': 11.19}, {'connected_gene': 'RNF26', 'score': 11.13}, {'connected_gene': 'RPL23AP64', 'score': 11.11}, {'connected_gene': 'HINFP', 'score': 10.95}, {'connected_gene': 'BCL9L', 'score': 10.64}, {'connected_gene': 'NLRX1', 'score': 10.4}, {'connected_gene': 'FOXR1', 'score': 10.18}, {'connected_gene': 'ENSG00000222529', 'score': 10.18}, {'connected_gene': 'UPK2', 'score': 10.13}, {'connected_gene': 'ENSG00000271751', 'score': 5.71}]
chr11 GH11I119020 119020739 119022596 0.79 [{'connected_gene': 'TRAPPC4', 'score': 98.13}, {'connected_gene': 'RPS25', 'score': 4.86}, {'connected_gene': 'MIR3656', 'score': 0.77}, {'connected_gene': 'SLC37A4', 'score': 0.44}]
chr11 GH11I119062 119062930 119063059 0.74 [{'connected_gene': 'HMBS', 'score': 12.99}, {'connected_gene': 'H2AFX', 'score': 12.94}, {'connected_gene': 'C2CD2L', 'score': 12.93}, {'connected_gene': 'DPAGT1', 'score': 12.9}, {'connected_gene': 'SLC37A4', 'score': 12.39}, {'connected_gene': 'RPS25', 'score': 12.36}, {'connected_gene': 'TRAPPC4', 'score': 12.36}, {'connected_gene': 'HINFP', 'score': 10.94}, {'connected_gene': 'NLRX1', 'score': 10.4}, {'connected_gene': 'FOXR1', 'score': 10.18}, {'connected_gene': 'ENSG00000222529', 'score': 10.18}, {'connected_gene': 'UPK2', 'score': 10.14}, {'connected_gene': 'ENSG00000271751', 'score': 0.77}, {'connected_gene': 'GC11P119057', 'score': 0.44}]
chr11 GH11I118906 118906480 118931105 2.88 [{'connected_gene': 'BCL9L', 'score': 577.01}, {'connected_gene': 'DPAGT1', 'score': 32.47}, {'connected_gene': 'UBE4A', 'score': 28.16}, {'connected_gene': 'ENSG00000254909', 'score': 28.08}, {'connected_gene': 'RPL23AP64', 'score': 25.24}, {'connected_gene': 'ARCN1', 'score': 24.99}, {'connected_gene': 'ENSG00000254428', 'score': 23.08}, {'connected_gene': 'RNF26', 'score': 19.84}, {'connected_gene': 'CCDC84', 'score': 16.8}, {'connected_gene': 'KMT2A', 'score': 15.66}, {'connected_gene': 'CXCR5', 'score': 15.27}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'DDX6', 'score': 13.42}, {'connected_gene': 'RPS25', 'score': 13.01}, {'connected_gene': 'VPS11', 'score': 12.54}, {'connected_gene': 'HMBS', 'score': 12.4}, {'connected_gene': 'ENSG00000222529', 'score': 12.22}, {'connected_gene': 'FOXR1', 'score': 12.22}, {'connected_gene': 'C2CD2L', 'score': 12.12}, {'connected_gene': 'ENSG00000255121', 'score': 11.37}, {'connected_gene': 'ENSG00000245869', 'score': 11.36}, {'connected_gene': 'JAML', 'score': 10.87}, {'connected_gene': 'HINFP', 'score': 10.27}, {'connected_gene': 'H2AFX', 'score': 10.24}, {'connected_gene': 'TRAPPC4', 'score': 9.9}, {'connected_gene': 'RPL5P30', 'score': 9.78}, {'connected_gene': 'UPK2', 'score': 3.43}, {'connected_gene': 'HYOU1', 'score': 2.91}, {'connected_gene': 'SLC37A4', 'score': 2.67}, {'connected_gene': 'PHLDB1', 'score': 2.39}, {'connected_gene': 'CBL', 'score': 2.38}, {'connected_gene': 'CCDC153', 'score': 1.67}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'GC11P118898', 'score': 0.34}]
chr11 GH11I119024 119024284 119031580 2.06 [{'connected_gene': 'SLC37A4', 'score': 560.37}, {'connected_gene': 'TRAPPC4', 'score': 97.79}, {'connected_gene': 'VPS11', 'score': 15.88}, {'connected_gene': 'MIR3656', 'score': 0.44}]
chr11 GH11I119031 119031731 119031880 0.2 [{'connected_gene': 'SLC37A4', 'score': 550.77}, {'connected_gene': 'ENSG00000255114', 'score': 0.39}]
chr11 GH11I118398 118398236 118403361 2.42 [{'connected_gene': 'ATP5MG', 'score': 550.77}, {'connected_gene': 'ENSG00000254873', 'score': 550.77}, {'connected_gene': 'IFT46', 'score': 14.36}, {'connected_gene': 'TMEM25', 'score': 13.16}, {'connected_gene': 'ENSG00000255384', 'score': 11.58}, {'connected_gene': 'KMT2A', 'score': 11.57}, {'connected_gene': 'ARCN1', 'score': 10.61}, {'connected_gene': 'RNF26', 'score': 10.26}, {'connected_gene': 'TTC36', 'score': 10.18}, {'connected_gene': 'FXYD6', 'score': 10.18}, {'connected_gene': 'DSCAML1', 'score': 9.93}, {'connected_gene': 'SLC37A4', 'score': 5.0}, {'connected_gene': 'LOC100131626', 'score': 0.37}, {'connected_gene': 'UBE4A', 'score': 0.26}]
chr11 GH11I119023 119023891 119024040 0.46 [{'connected_gene': 'MIR3656', 'score': 0.44}, {'connected_gene': 'SLC37A4', 'score': 0.44}, {'connected_gene': 'TRAPPC4', 'score': 0.44}]
chr11 GH11I119065 119065530 119065679 0.75 [{'connected_gene': 'ENSG00000271751', 'score': 550.77}, {'connected_gene': 'H2AFX', 'score': 12.96}, {'connected_gene': 'C2CD2L', 'score': 12.93}, {'connected_gene': 'DPAGT1', 'score': 12.91}, {'connected_gene': 'SLC37A4', 'score': 12.39}, {'connected_gene': 'RPS25', 'score': 12.34}, {'connected_gene': 'TRAPPC4', 'score': 12.34}, {'connected_gene': 'HINFP', 'score': 10.94}, {'connected_gene': 'NLRX1', 'score': 10.4}, {'connected_gene': 'FOXR1', 'score': 10.18}, {'connected_gene': 'ENSG00000222529', 'score': 10.18}, {'connected_gene': 'UPK2', 'score': 10.13}, {'connected_gene': 'GC11P119057', 'score': 0.44}]
chr11 GH11I119039 119039601 119040000 0.6 [{'connected_gene': 'ENSG00000255114', 'score': 0.77}, {'connected_gene': 'SLC37A4', 'score': 0.44}]

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