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
ENST00000360534 [[162848750, 162849894], [162851470, 162851544], [162851809, 162851882], [162862254, 162862319], [162865071, 162865171], [162865750, 162865805], [162868302, 162868497], [162870905, 162870975], [162873277, 162873376], [162873617, 162873665], [162875238, 162875360], [162875732, 162875786], [162876738, 162876806], [162877090, 162877198], [162879264, 162879309], [162881313, 162881449], [162890050, 162890163], [162891673, 162891834], [162894811, 162894932], [162895458, 162895531], [162895641, 162895694], [162902041, 162902122], [162903424, 162903516], [162903912, 162904011], [162929908, 162929996], [162930485, 162931052]] [[162849792, 162849894], [162851470, 162851544], [162851809, 162851882], [162862254, 162862319], [162865071, 162865171], [162865750, 162865805], [162868302, 162868497], [162870905, 162870975], [162873277, 162873376], [162873617, 162873665], [162875238, 162875360], [162875732, 162875786], [162876738, 162876806], [162877090, 162877198], [162879264, 162879309], [162881313, 162881449], [162890050, 162890163], [162891673, 162891834], [162894811, 162894932], [162895458, 162895531], [162895641, 162895694], [162902041, 162902122], [162903424, 162903516], [162903912, 162904011], [162929908, 162929996], [162930485, 162930491]]
ENST00000434918 [[162849792, 162849894], [162851470, 162851544], [162851809, 162851882], [162862254, 162862319], [162865071, 162865171], [162865750, 162865805], [162868302, 162868497], [162870905, 162870975], [162873277, 162873376], [162873617, 162873665], [162875238, 162875360], [162875732, 162875786], [162876738, 162876806], [162877090, 162877198], [162879264, 162879309], [162881313, 162881449], [162888544, 162888775], [162890050, 162890163], [162891673, 162891834], [162894811, 162894932], [162895454, 162895531], [162895641, 162895694], [162902041, 162902122], [162903424, 162903516], [162903912, 162904008], [162929908, 162929996], [162930485, 162930632]] [[162894912, 162894932], [162895454, 162895531], [162895641, 162895694], [162902041, 162902122], [162903424, 162903516], [162903912, 162904008], [162929908, 162929996], [162930485, 162930491]]
ENST00000490286 [[162851687, 162851882], [162862254, 162862319], [162865071, 162865171], [162865750, 162865805], [162868302, 162868497], [162870905, 162870975], [162873277, 162873376], [162873617, 162873665], [162875238, 162875360], [162875732, 162875786], [162876738, 162876806], [162877090, 162877198], [162879264, 162879309], [162881313, 162881449], [162890050, 162890163], [162891673, 162891834], [162894811, 162894932], [162895458, 162895531], [162895641, 162895694], [162902041, 162902122], [162903424, 162903516], [162903912, 162904011], [162929908, 162929996]] None
ENST00000497461 [[162894851, 162894932], [162895458, 162895531], [162895641, 162895694], [162902041, 162902122], [162903211, 162903315], [162903424, 162903516], [162903912, 162904011], [162929908, 162930106]] None
ENST00000461836 [[162894883, 162894932], [162895458, 162895531], [162902041, 162902122], [162903211, 162903516], [162903912, 162904011], [162929908, 162929973]] None
ENST00000413651 [[162895497, 162895531], [162895641, 162895694], [162902041, 162902122], [162903211, 162903315], [162903424, 162903516], [162903912, 162904011], [162929908, 162929996], [162930485, 162930512]] [[162903243, 162903315], [162903424, 162903516], [162903912, 162904011], [162929908, 162929996], [162930485, 162930491]]
ENST00000491591 [[162851470, 162851544], [162851809, 162851882], [162862254, 162862319], [162865071, 162865171], [162865750, 162865805], [162868302, 162868497], [162870905, 162870975], [162873277, 162873376], [162873617, 162873665], [162873871, 162874061]] None
ENST00000494507 [[162862154, 162862319], [162865071, 162865171], [162865750, 162865805], [162868302, 162868497], [162870905, 162870972]] None
ENST00000468903 [[162873329, 162873376], [162873617, 162873665], [162875238, 162875360], [162875732, 162875786], [162876738, 162876806], [162877090, 162877198], [162877968, 162878103]] None
ENST00000416189 [[162894851, 162894932], [162895458, 162895531], [162902041, 162902122], [162903211, 162903315], [162903424, 162903516], [162903912, 162904008]] [[162903243, 162903315], [162903424, 162903516], [162903912, 162904008]]
NM_001935 [[162848754, 162849894], [162851470, 162851544], [162851809, 162851882], [162862254, 162862319], [162865071, 162865171], [162865750, 162865805], [162868302, 162868497], [162870905, 162870975], [162873277, 162873376], [162873617, 162873665], [162875238, 162875360], [162875732, 162875786], [162876738, 162876806], [162877090, 162877198], [162879264, 162879309], [162881313, 162881449], [162890050, 162890163], [162891673, 162891834], [162894811, 162894932], [162895458, 162895531], [162895641, 162895694], [162902041, 162902122], [162903424, 162903516], [162903912, 162904011], [162929908, 162929996], [162930485, 162931052]] [[162849792, 162849894], [162851470, 162851544], [162851809, 162851882], [162862254, 162862319], [162865071, 162865171], [162865750, 162865805], [162868302, 162868497], [162870905, 162870975], [162873277, 162873376], [162873617, 162873665], [162875238, 162875360], [162875732, 162875786], [162876738, 162876806], [162877090, 162877198], [162879264, 162879309], [162881313, 162881449], [162890050, 162890163], [162891673, 162891834], [162894811, 162894932], [162895458, 162895531], [162895641, 162895694], [162902041, 162902122], [162903424, 162903516], [162903912, 162904011], [162929908, 162929996], [162930485, 162930491]]
Promoter
Chrom Start End Description
chr2 162929965 162930004 CAGE_peak_11_at_DPP4_5end
chr2 162930006 162930030 CAGE_peak_13_at_DPP4_5end
chr2 162930070 162930118 CAGE_peak_8_at_DPP4_5end
chr2 162930189 162930196 CAGE_peak_19_at_DPP4_5end
chr2 162930503 162930521 CAGE_peak_3_at_DPP4_5end
chr2 162930536 162930551 CAGE_peak_5_at_DPP4_5end
chr2 162930560 162930613 CAGE_peak_1_at_DPP4_5end
chr2 162930622 162930641 CAGE_peak_4_at_DPP4_5end
chr2 162930654 162930665 CAGE_peak_7_at_DPP4_5end
chr2 162930688 162930752 CAGE_peak_2_at_DPP4_5end
chr2 162930797 162930810 CAGE_peak_6_at_DPP4_5end
chr2 162930861 162930874 CAGE_peak_10_at_DPP4_5end
chr2 162930904 162930915 CAGE_peak_12_at_DPP4_5end
chr2 162931058 162931063 CAGE_peak_16_at_DPP4_5end
chr2 162931082 162931100 CAGE_peak_9_at_DPP4_5end
chr2 162931120 162931131 CAGE_peak_15_at_DPP4_5end
chr2 162931138 162931149 CAGE_peak_14_at_DPP4_5end
chr2 162931221 162931224 CAGE_peak_18_at_DPP4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I162117 162117389 162119718 0.74 [{'connected_gene': 'DPP4', 'score': 11.44}, {'connected_gene': 'ENSG00000224076', 'score': 10.71}, {'connected_gene': 'SLC4A10', 'score': 10.71}, {'connected_gene': 'ENSG00000251621', 'score': 10.71}, {'connected_gene': 'TIMM8AP1', 'score': 10.67}, {'connected_gene': 'ENSG00000230918', 'score': 4.79}, {'connected_gene': 'LOC101929532', 'score': 0.77}, {'connected_gene': 'GC02M162150', 'score': 0.29}, {'connected_gene': 'GC02M162149', 'score': 0.29}]
chr2 GH02I162063 162063801 162076221 2.54 [{'connected_gene': 'DPP4', 'score': 556.25}, {'connected_gene': 'AHCTF1P1', 'score': 11.45}, {'connected_gene': 'TANK', 'score': 4.72}, {'connected_gene': 'ENSG00000230918', 'score': 0.77}, {'connected_gene': 'RPEP5', 'score': 0.12}]
chr2 GH02I162084 162084672 162087293 1.25 [{'connected_gene': 'DPP4', 'score': 4.68}, {'connected_gene': 'FAP', 'score': 2.45}, {'connected_gene': 'EIF3EP2', 'score': 0.77}, {'connected_gene': 'TIMM8AP1', 'score': 0.44}]
chr2 GH02I162057 162057179 162060074 1.12 [{'connected_gene': 'DPP4', 'score': 4.66}, {'connected_gene': 'ENSG00000230918', 'score': 0.39}, {'connected_gene': 'RPEP5', 'score': 0.13}]
chr2 GH02I162062 162062361 162063320 0.66 [{'connected_gene': 'DPP4', 'score': 4.33}, {'connected_gene': 'ENSG00000230918', 'score': 0.39}, {'connected_gene': 'RPEP5', 'score': 0.12}]
chr2 GH02I162000 162000433 162000657 0.71 [{'connected_gene': 'RPEP5', 'score': 0.2}, {'connected_gene': 'ENSG00000230918', 'score': 0.19}, {'connected_gene': 'DPP4', 'score': 0.19}]
chr2 GH02I162002 162002411 162003255 0.6 [{'connected_gene': 'RPEP5', 'score': 0.19}, {'connected_gene': 'ENSG00000230918', 'score': 0.19}, {'connected_gene': 'DPP4', 'score': 0.19}]
chr2 GH02I161991 161991754 161993843 0.6 [{'connected_gene': 'RPEP5', 'score': 0.21}, {'connected_gene': 'ENSG00000230918', 'score': 0.18}, {'connected_gene': 'DPP4', 'score': 0.18}]
chr2 GH02I162112 162112551 162115060 1.12 [{'connected_gene': 'LOC101929532', 'score': 550.77}, {'connected_gene': 'TIMM8AP1', 'score': 11.29}, {'connected_gene': 'DPP4', 'score': 11.15}, {'connected_gene': 'ENSG00000233397', 'score': 0.34}]
chr2 GH02I162011 162011048 162014600 0.83 [{'connected_gene': 'LINC01806', 'score': 8.2}, {'connected_gene': 'ENSG00000230918', 'score': 0.21}, {'connected_gene': 'DPP4', 'score': 0.21}, {'connected_gene': 'RPEP5', 'score': 0.18}]
chr2 GH02I162021 162021413 162022623 0.54 [{'connected_gene': 'ENSG00000230918', 'score': 0.23}, {'connected_gene': 'DPP4', 'score': 0.23}, {'connected_gene': 'RPEP5', 'score': 0.16}]
chr2 GH02I162029 162029260 162030510 0.72 [{'connected_gene': 'ENSG00000230918', 'score': 12.22}, {'connected_gene': 'DPP4', 'score': 12.22}, {'connected_gene': 'RPEP5', 'score': 0.15}]
chr2 GH02I162060 162060411 162060646 0.22 [{'connected_gene': 'ENSG00000230918', 'score': 0.39}, {'connected_gene': 'DPP4', 'score': 0.39}, {'connected_gene': 'RPEP5', 'score': 0.13}]
chr2 GH02I161994 161994601 161995000 0.4 [{'connected_gene': 'ENSG00000230918', 'score': 11.47}, {'connected_gene': 'DPP4', 'score': 11.47}, {'connected_gene': 'RPEP5', 'score': 0.21}]
chr2 GH02I161995 161995261 161996381 0.98 [{'connected_gene': 'ENSG00000230918', 'score': 11.47}, {'connected_gene': 'DPP4', 'score': 11.47}, {'connected_gene': 'RPEP5', 'score': 0.21}]
chr2 GH02I162037 162037131 162037280 0.2 [{'connected_gene': 'ENSG00000230918', 'score': 0.28}, {'connected_gene': 'DPP4', 'score': 0.28}, {'connected_gene': 'RPEP5', 'score': 0.14}]
chr2 GH02I162007 162007693 162009665 0.52 [{'connected_gene': 'ENSG00000230918', 'score': 0.21}, {'connected_gene': 'DPP4', 'score': 0.2}, {'connected_gene': 'RPEP5', 'score': 0.18}]
chr2 GH02I162016 162016211 162016360 0.88 [{'connected_gene': 'ENSG00000230918', 'score': 0.22}, {'connected_gene': 'DPP4', 'score': 0.22}, {'connected_gene': 'RPEP5', 'score': 0.18}]
chr2 GH02I162025 162025651 162025900 0.43 [{'connected_gene': 'ENSG00000230918', 'score': 11.21}, {'connected_gene': 'DPP4', 'score': 11.21}, {'connected_gene': 'RPEP5', 'score': 0.16}]
chr2 GH02I162024 162024136 162025151 0.2 [{'connected_gene': 'ENSG00000230918', 'score': 11.21}, {'connected_gene': 'DPP4', 'score': 11.21}, {'connected_gene': 'RPEP5', 'score': 0.16}]
chr2 GH02I162027 162027329 162028378 1.12 [{'connected_gene': 'ENSG00000230918', 'score': 12.2}, {'connected_gene': 'DPP4', 'score': 12.2}, {'connected_gene': 'RPEP5', 'score': 0.15}]
chr2 GH02I162105 162105813 162106953 0.31 [{'connected_gene': 'ENSG00000230918', 'score': 12.1}, {'connected_gene': 'DPP4', 'score': 12.1}, {'connected_gene': 'LOC101929532', 'score': 0.44}, {'connected_gene': 'ENSG00000233397', 'score': 0.39}]