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
ENST00000512701 [[15163619, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307358]] [[15172016, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307321]]
ENST00000355694 [[15170842, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307358]] [[15172016, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307123]]
ENST00000380850 [[15170842, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189701, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307358]] [[15172016, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189701, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307321]]
ENST00000297615 [[15170842, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15267911, 15267946], [15307081, 15307358]] [[15172016, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15267911, 15267946], [15307081, 15307321]]
ENST00000507285 [[15171926, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15224337, 15224503], [15225914, 15226010], [15232229, 15232442]] [[15172016, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211382]]
ENST00000507993 [[15171943, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15249915, 15250114]] [[15172016, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211382]]
ENST00000505732 [[15186584, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307358]] None
ENST00000541445 [[15190552, 15190660], [15191187, 15191253], [15192587, 15192693], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307209]] [[15192669, 15192693], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307123]]
ENST00000380853 [[15171561, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185526], [15186941, 15187033], [15187968, 15188063]] None
ENST00000582994 [[15214135, 15214247], [15224357, 15224503], [15225914, 15226010], [15232229, 15232442]] None
ENST00000506891 [[15249039, 15249685], [15249915, 15250008], [15267911, 15267946], [15307081, 15307207]] [[15249959, 15250008], [15267911, 15267946], [15307081, 15307207]]
NM_001168342 [[15170841, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15249915, 15250198]] [[15172016, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211382]]
NM_001168340 [[15170841, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189701, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307358]] [[15172016, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189701, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307321]]
NM_152574 [[15170841, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307358]] [[15172016, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307321]]
NM_001168339 [[15170841, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210156], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307358]] [[15172016, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210156], [15211263, 15211395], [15214136, 15214247], [15225914, 15226010], [15267911, 15267946], [15307081, 15307321]]
NM_001168341 [[15170841, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15267911, 15267946], [15307081, 15307358]] [[15172016, 15172107], [15175016, 15175133], [15177694, 15177812], [15182304, 15182413], [15185277, 15185404], [15186941, 15187033], [15187968, 15188130], [15189571, 15189631], [15189722, 15189790], [15190551, 15190660], [15191187, 15191253], [15192587, 15192693], [15199858, 15199923], [15203820, 15203888], [15210085, 15210162], [15211263, 15211395], [15267911, 15267946], [15307081, 15307321]]
Promoter
Chrom Start End Description
chr9 15250128 15250143 CAGE_peak_7_at_TTC39B_5end
chr9 15250146 15250155 CAGE_peak_10_at_TTC39B_5end
chr9 15250159 15250231 CAGE_peak_2_at_TTC39B_5end
chr9 15307143 15307151 CAGE_peak_5_at_TTC39B_5end
chr9 15307181 15307197 CAGE_peak_3_at_TTC39B_5end
chr9 15307200 15307243 CAGE_peak_1_at_TTC39B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I015085 15085434 15087596 0.46 [{'connected_gene': 'FREM1', 'score': 9.94}, {'connected_gene': 'TTC39B', 'score': 5.07}, {'connected_gene': 'PSIP1P1', 'score': 0.29}, {'connected_gene': 'RNU6-559P', 'score': 0.22}, {'connected_gene': 'CLCN3P1', 'score': 0.22}]
chr9 GH09I015370 15370942 15374880 0.82 [{'connected_gene': 'TTC39B', 'score': 11.04}, {'connected_gene': 'RPL7P33', 'score': 0.39}, {'connected_gene': 'SNAPC3', 'score': 0.25}]
chr9 GH09I015275 15275823 15278894 0.87 [{'connected_gene': 'TTC39B', 'score': 11.67}, {'connected_gene': 'PSIP1', 'score': 9.87}, {'connected_gene': 'PIR49655', 'score': 0.26}]
chr9 GH09I015293 15293065 15301282 1.45 [{'connected_gene': 'TTC39B', 'score': 22.05}, {'connected_gene': 'PSIP1', 'score': 10.37}, {'connected_gene': 'PIR49655', 'score': 0.21}]
chr9 GH09I015154 15154560 15157801 0.77 [{'connected_gene': 'TTC39B', 'score': 4.87}, {'connected_gene': 'GC09M015163', 'score': 0.44}, {'connected_gene': 'LOC105375981', 'score': 0.44}]
chr9 GH09I015211 15211053 15212372 0.92 [{'connected_gene': 'TTC39B', 'score': 5.34}, {'connected_gene': 'GC09P015220', 'score': 0.44}, {'connected_gene': 'GC09M015163', 'score': 0.25}]
chr9 GH09I015242 15242411 15244846 0.46 [{'connected_gene': 'TTC39B', 'score': 7.91}, {'connected_gene': 'PIR49655', 'score': 0.44}]
chr9 GH09I015289 15289863 15290012 0.2 [{'connected_gene': 'TTC39B', 'score': 17.71}, {'connected_gene': 'PIR49655', 'score': 0.22}]
chr9 GH09I015310 15310202 15311203 0.4 [{'connected_gene': 'TTC39B', 'score': 0.77}, {'connected_gene': 'GC09P015350', 'score': 0.28}]
chr9 GH09I015248 15248504 15250269 1.19 [{'connected_gene': 'TTC39B', 'score': 550.22}, {'connected_gene': 'PIR49655', 'score': 0.37}]
chr9 GH09I015288 15288565 15288811 0.38 [{'connected_gene': 'TTC39B', 'score': 0.37}, {'connected_gene': 'PIR49655', 'score': 0.23}]
chr9 GH09I015331 15331481 15334601 0.83 [{'connected_gene': 'TTC39B', 'score': 11.16}, {'connected_gene': 'GC09P015350', 'score': 0.37}]
chr9 GH09I015304 15304466 15309202 2.41 [{'connected_gene': 'TTC39B', 'score': 579.3}, {'connected_gene': 'PIR49655', 'score': 0.19}]
chr9 GH09I015285 15285979 15287736 0.82 [{'connected_gene': 'TTC39B', 'score': 16.46}, {'connected_gene': 'PIR49655', 'score': 0.23}]
chr9 GH09I015118 15118802 15123802 0.52 [{'connected_gene': 'RNU6-559P', 'score': 12.71}, {'connected_gene': 'TTC39B', 'score': 6.86}, {'connected_gene': 'CLCN3P1', 'score': 0.31}, {'connected_gene': 'PSIP1P1', 'score': 0.2}]
chr9 GH09I015233 15233038 15233097 0.5 [{'connected_gene': 'PIR49655', 'score': 550.77}, {'connected_gene': 'TTC39B', 'score': 550.19}, {'connected_gene': 'GC09P015220', 'score': 0.39}]
chr9 GH09I015205 15205983 15206132 0.57 [{'connected_gene': 'GC09P015220', 'score': 0.39}, {'connected_gene': 'GC09M015163', 'score': 0.26}, {'connected_gene': 'TTC39B', 'score': 0.15}]
chr9 GH09I015220 15220963 15221112 0.2 [{'connected_gene': 'GC09P015220', 'score': 550.77}, {'connected_gene': 'PIR49655', 'score': 0.39}, {'connected_gene': 'TTC39B', 'score': 0.17}]
chr9 GH09I015234 15232143 15232292 0.49 [{'connected_gene': 'PIR49655', 'score': 550.77}, {'connected_gene': 'GC09P015220', 'score': 0.39}, {'connected_gene': 'TTC39B', 'score': 0.18}]
chr9 GH09I015181 15181574 15182596 0.46 [{'connected_gene': 'GC09M015163', 'score': 0.37}, {'connected_gene': 'GC09P015220', 'score': 0.28}, {'connected_gene': 'TTC39B', 'score': 0.13}]
chr9 GH09I015232 15232602 15232999 0.31 [{'connected_gene': 'PIR49655', 'score': 550.77}, {'connected_gene': 'TTC39B', 'score': 15.71}, {'connected_gene': 'GC09P015220', 'score': 0.39}]