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
ENST00000451320 [[153701088, 153701243], [153750776, 153750878], [153784757, 153784866], [153791904, 153792000], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153833509]] [[153750785, 153750878], [153784757, 153784866], [153791904, 153792000], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153831371]]
ENST00000429148 [[153701090, 153701243], [153750776, 153750878], [153803874, 153804032], [153809284, 153809459], [153831215, 153832226]] [[153750785, 153750878], [153803874, 153804032], [153809284, 153809459], [153831215, 153831371]]
ENST00000353617 [[153701111, 153701378], [153750776, 153750878], [153784757, 153784866], [153791904, 153792000], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153833064]] [[153750785, 153750878], [153784757, 153784866], [153791904, 153792000], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153831371]]
ENST00000405727 [[153701122, 153701243], [153750776, 153750878], [153784757, 153784866], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153831816]] [[153750785, 153750878], [153784757, 153784866], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153831371]]
ENST00000356064 [[153701136, 153701378], [153750776, 153750878], [153784757, 153784866], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153831396]] [[153750785, 153750878], [153784757, 153784866], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153831371]]
ENST00000510831 [[153701144, 153701243], [153728355, 153728400], [153730824, 153730885], [153731231, 153731540]] None
ENST00000509413 [[153701260, 153701378], [153728355, 153728400], [153730824, 153730885], [153731231, 153731538]] None
ENST00000511289 [[153771794, 153771858], [153784757, 153784866], [153791904, 153792000], [153793603, 153793716], [153802114, 153802325]] None
ENST00000513361 [[153771799, 153771879], [153784757, 153784866], [153791904, 153792000], [153793603, 153793716], [153802114, 153802263]] None
ENST00000514499 [[153804396, 153804468], [153809284, 153809459], [153831215, 153831530]] None
ENST00000510497 [[153832721, 153833154], [153838159, 153838236], [153839554, 153839615]] None
NM_014447 [[153701088, 153701243], [153750776, 153750878], [153784757, 153784866], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153833064]] [[153750785, 153750878], [153784757, 153784866], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153831371]]
NM_001287431 [[153701088, 153701243], [153750776, 153750878], [153784757, 153784866], [153791904, 153792000], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153833064]] [[153750785, 153750878], [153784757, 153784866], [153791904, 153792000], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153831371]]
NM_001287433 [[153701088, 153701243], [153711910, 153712027], [153750776, 153750878], [153784757, 153784866], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153833064]] [[153750785, 153750878], [153784757, 153784866], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153831371]]
NM_001025593 [[153701088, 153701378], [153750776, 153750878], [153784757, 153784866], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153833064]] [[153750785, 153750878], [153784757, 153784866], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153831371]]
NM_001025595 [[153701088, 153701378], [153750776, 153750878], [153784757, 153784866], [153791904, 153792000], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153833064]] [[153750785, 153750878], [153784757, 153784866], [153791904, 153792000], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153831371]]
NM_001287432 [[153701088, 153701378], [153711910, 153712027], [153750776, 153750878], [153784757, 153784866], [153791904, 153792000], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153833064]] [[153750785, 153750878], [153784757, 153784866], [153791904, 153792000], [153793603, 153793716], [153802114, 153802336], [153803874, 153804032], [153809284, 153809459], [153831215, 153831371]]
Promoter
Chrom Start End Description
chr4 153700985 153701049 CAGE_peak_3_at_ARFIP1_5end
chr4 153701081 153701164 CAGE_peak_1_at_ARFIP1_5end
chr4 153701288 153701299 CAGE_peak_4_at_ARFIP1_5end
chr4 153771794 153771826 CAGE_peak_2_at_ARFIP1_5end
chr4 153771831 153771842 CAGE_peak_6_at_ARFIP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I152953 152953898 152959507 1.4 [{'connected_gene': 'FHDC1', 'score': 22.39}, {'connected_gene': 'RNF175', 'score': 8.92}, {'connected_gene': 'ARFIP1', 'score': 7.71}, {'connected_gene': 'TRIM2', 'score': 1.38}, {'connected_gene': 'PIR52121', 'score': 0.44}, {'connected_gene': 'GC04P152944', 'score': 0.39}, {'connected_gene': 'GC04P152946', 'score': 0.39}, {'connected_gene': 'GC04P152943', 'score': 0.39}, {'connected_gene': 'GC04P152945', 'score': 0.39}]
chr4 GH04I152848 152848815 152851747 0.89 [{'connected_gene': 'FHDC1', 'score': 11.32}, {'connected_gene': 'GC04P152882', 'score': 0.29}, {'connected_gene': 'GC04M152803', 'score': 0.29}, {'connected_gene': 'ARFIP1', 'score': 0.19}]
chr4 GH04I153564 153564140 153565539 1.37 [{'connected_gene': 'MND1', 'score': 11.55}, {'connected_gene': 'TMEM131L', 'score': 11.19}, {'connected_gene': 'ARFIP1', 'score': 11.18}, {'connected_gene': 'LOC105377498', 'score': 0.34}, {'connected_gene': 'PIR43440', 'score': 0.19}]
chr4 GH04I152938 152938989 152939035 0.31 [{'connected_gene': 'LOC729870', 'score': 550.77}, {'connected_gene': 'ARFIP1', 'score': 36.36}, {'connected_gene': 'GC04P152943', 'score': 0.77}, {'connected_gene': 'FHDC1', 'score': 0.31}]
chr4 GH04I152934 152934766 152938834 1.86 [{'connected_gene': 'LOC729870', 'score': 550.77}, {'connected_gene': 'ARFIP1', 'score': 29.39}, {'connected_gene': 'MIR4453HG', 'score': 10.48}, {'connected_gene': 'TRIM2', 'score': 3.07}, {'connected_gene': 'FHDC1', 'score': 3.0}, {'connected_gene': 'FAM192BP', 'score': 0.44}]
chr4 GH04I152949 152949610 152952398 0.96 [{'connected_gene': 'ARFIP1', 'score': 20.46}, {'connected_gene': 'GC04P152944', 'score': 0.44}, {'connected_gene': 'GC04P152946', 'score': 0.44}, {'connected_gene': 'GC04P152945', 'score': 0.44}, {'connected_gene': 'GC04P152943', 'score': 0.44}, {'connected_gene': 'PIR52121', 'score': 0.39}, {'connected_gene': 'FHDC1', 'score': 0.28}]
chr4 GH04I152892 152892243 152893852 0.2 [{'connected_gene': 'ARFIP1', 'score': 32.1}, {'connected_gene': 'GC04M152863', 'score': 0.44}, {'connected_gene': 'GC04P152882', 'score': 0.39}, {'connected_gene': 'FHDC1', 'score': 0.37}]
chr4 GH04I152778 152778666 152781226 2.06 [{'connected_gene': 'ARFIP1', 'score': 612.56}, {'connected_gene': 'GC04M152775', 'score': 550.77}, {'connected_gene': 'TIGD4', 'score': 550.77}, {'connected_gene': 'GC04M152797', 'score': 0.37}]
chr4 GH04I152801 152801353 152801412 0.5 [{'connected_gene': 'ARFIP1', 'score': 550.34}, {'connected_gene': 'GC04M152793', 'score': 0.77}, {'connected_gene': 'GC04M152803', 'score': 0.37}]
chr4 GH04I152784 152784909 152785038 0.57 [{'connected_gene': 'ARFIP1', 'score': 0.44}, {'connected_gene': 'GC04M152797', 'score': 0.39}]
chr4 GH04I152785 152785885 152786800 0.43 [{'connected_gene': 'ARFIP1', 'score': 0.44}, {'connected_gene': 'GC04M152797', 'score': 0.39}]
chr4 GH04I153151 153151657 153154756 2.07 [{'connected_gene': 'TRIM2', 'score': 555.71}, {'connected_gene': 'GC04M153152', 'score': 550.77}, {'connected_gene': 'MIR4453HG', 'score': 17.94}, {'connected_gene': 'ARFIP1', 'score': 11.2}, {'connected_gene': 'MND1', 'score': 10.43}, {'connected_gene': 'ENSG00000201786', 'score': 10.37}, {'connected_gene': 'RNU6-1196P', 'score': 10.37}]
chr4 GH04I153218 153218196 153224623 2.18 [{'connected_gene': 'TRIM2', 'score': 578.88}, {'connected_gene': 'ARFIP1', 'score': 40.92}, {'connected_gene': 'MIR4453HG', 'score': 23.31}, {'connected_gene': 'RNU6-1196P', 'score': 11.28}, {'connected_gene': 'ENSG00000201786', 'score': 11.27}, {'connected_gene': 'TIGD4', 'score': 10.87}, {'connected_gene': 'MND1', 'score': 10.7}, {'connected_gene': 'RNF175', 'score': 9.24}, {'connected_gene': 'LOC105377496', 'score': 0.31}, {'connected_gene': 'GC04M153170', 'score': 0.31}]
chr4 GH04I152719 152719038 152721116 0.59 [{'connected_gene': 'TMEM154', 'score': 11.25}, {'connected_gene': 'ENSG00000248571', 'score': 11.19}, {'connected_gene': 'ARFIP1', 'score': 8.77}, {'connected_gene': 'GC04M152705', 'score': 0.77}, {'connected_gene': 'GC04M152749', 'score': 0.28}]
chr4 GH04I152678 152678240 152678594 0.62 [{'connected_gene': 'TMEM154', 'score': 579.07}, {'connected_gene': 'GC04P152678', 'score': 550.77}, {'connected_gene': 'LOC105377495', 'score': 550.77}, {'connected_gene': 'FBXW7', 'score': 28.91}, {'connected_gene': 'ARFIP1', 'score': 3.63}]
chr4 GH04I151957 151956975 151957852 0.49 [{'connected_gene': 'LOC100505685', 'score': 550.77}, {'connected_gene': 'GC04P151958', 'score': 550.77}, {'connected_gene': 'ARFIP1', 'score': 12.53}, {'connected_gene': 'RPS3A', 'score': 10.59}, {'connected_gene': 'ENSG00000249818', 'score': 5.49}]
chr4 GH04I152796 152796840 152796922 0.22 [{'connected_gene': 'LOC100421721', 'score': 550.77}, {'connected_gene': 'GC04M152797', 'score': 550.77}, {'connected_gene': 'GC04M152793', 'score': 550.77}, {'connected_gene': 'ARFIP1', 'score': 0.37}]
chr4 GH04I152942 152942812 152945309 1.08 [{'connected_gene': 'GC04P152944', 'score': 550.77}, {'connected_gene': 'GC04P152946', 'score': 550.77}, {'connected_gene': 'GC04P152945', 'score': 550.77}, {'connected_gene': 'GC04P152943', 'score': 550.77}, {'connected_gene': 'FHDC1', 'score': 550.29}, {'connected_gene': 'ARFIP1', 'score': 35.97}, {'connected_gene': 'PIR52121', 'score': 0.37}]
chr4 GH04I152894 152894749 152894898 0.31 [{'connected_gene': 'GC04P152882', 'score': 0.39}, {'connected_gene': 'GC04M152863', 'score': 0.39}, {'connected_gene': 'FHDC1', 'score': 0.37}, {'connected_gene': 'ARFIP1', 'score': 0.14}]
chr4 GH04I153537 153537344 153540518 1.21 [{'connected_gene': 'PIR33610', 'score': 550.77}, {'connected_gene': 'ARFIP1', 'score': 11.63}, {'connected_gene': 'MND1', 'score': 10.56}, {'connected_gene': 'LOC105377498', 'score': 0.77}, {'connected_gene': 'TMEM131L', 'score': 0.19}]
chr4 GH04I152846 152846829 152846978 0.63 [{'connected_gene': 'GC04M152803', 'score': 0.31}, {'connected_gene': 'GC04P152882', 'score': 0.28}, {'connected_gene': 'ARFIP1', 'score': 0.2}]
chr4 GH04I152843 152843164 152844389 0.38 [{'connected_gene': 'GC04M152803', 'score': 0.34}, {'connected_gene': 'GC04P152882', 'score': 0.28}, {'connected_gene': 'ARFIP1', 'score': 0.21}]
chr4 GH04I152860 152860169 152860298 0.38 [{'connected_gene': 'GC04P152882', 'score': 0.34}, {'connected_gene': 'GC04M152803', 'score': 0.26}, {'connected_gene': 'ARFIP1', 'score': 0.18}]
chr4 GH04I152817 152817201 152817600 0.2 [{'connected_gene': 'GC04M152803', 'score': 0.77}, {'connected_gene': 'GC04M152793', 'score': 0.37}, {'connected_gene': 'ARFIP1', 'score': 0.28}]
chr4 GH04I152847 152847001 152847200 0.6 [{'connected_gene': 'GC04M152803', 'score': 0.31}, {'connected_gene': 'GC04P152882', 'score': 0.28}, {'connected_gene': 'ARFIP1', 'score': 0.2}]
chr4 GH04I152714 152714849 152715418 0.31 [{'connected_gene': 'GC04M152705', 'score': 550.77}, {'connected_gene': 'ENSG00000248571', 'score': 11.2}, {'connected_gene': 'TMEM154', 'score': 11.06}, {'connected_gene': 'ARFIP1', 'score': 6.51}, {'connected_gene': 'GC04M152697', 'score': 0.37}]