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
ENST00000360843 [[171847332, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171916433, 171916496], [171917590, 171917666], [171939290, 171939362], [171974248, 171974367], [172016799, 172017343]] [[171850289, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171916433, 171916496], [171917590, 171917666], [171939290, 171939362], [171974248, 171974367], [172016799, 172016938]]
ENST00000431350 [[171847332, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171974248, 171974367], [172016799, 172017343]] [[171850289, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171974248, 171974367], [172016799, 172016938]]
ENST00000442919 [[171847332, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171974248, 171974367], [172016799, 172017410]] [[171850289, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171974248, 171974362]]
ENST00000359766 [[171848663, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171879381, 171879639], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171938149, 171938218], [171939290, 171939362], [171974248, 171974367], [172016799, 172017005]] [[171938197, 171938218], [171939290, 171939362], [171974248, 171974367], [172016799, 172016938]]
ENST00000521943 [[171850016, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171974248, 171974367], [172087654, 172087824]] [[171850289, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171974248, 171974362]]
ENST00000409443 [[171853233, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171879381, 171879639], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171974248, 171974367], [172016799, 172017410]] [[171879633, 171879639], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171974248, 171974367], [172016799, 172016938]]
ENST00000413010 [[171884854, 171884915], [171917590, 171917666], [171939290, 171939362], [171974248, 171974367], [172016799, 172017074]] None
ENST00000470340 [[171939290, 171939362], [171974248, 171974367], [172010360, 172010434], [172010939, 172011014], [172012099, 172012280]] None
ENST00000434911 [[171850236, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171923351, 171923483]] [[171850289, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171923351, 171923393]]
ENST00000478683 [[171901740, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171911639]] None
ENST00000486857 [[171910226, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171948123, 171948320]] None
ENST00000453628 [[171910291, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171916433, 171916496], [171917590, 171917666], [171923351, 171923446]] [[171910291, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171916433, 171916496], [171917590, 171917666], [171923351, 171923393]]
ENST00000466220 [[171974261, 171974367], [172016097, 172016337]] None
NM_012290 [[171847332, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171974248, 171974367], [172016799, 172017410]] [[171850289, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171974248, 171974367], [172016799, 172016938]]
NM_001136554 [[171847332, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171974248, 171974367], [172087654, 172087824]] [[171850289, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171939290, 171939362], [171974248, 171974362]]
NM_001136555 [[171847332, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171923351, 171923483]] [[171850289, 171850466], [171853162, 171853270], [171854221, 171854333], [171862656, 171862792], [171862983, 171863153], [171863309, 171863399], [171863481, 171863573], [171867882, 171867964], [171871360, 171871458], [171884848, 171884915], [171902683, 171902872], [171906323, 171906460], [171906573, 171906684], [171910270, 171910363], [171911592, 171911682], [171912980, 171913076], [171914660, 171914707], [171917590, 171917666], [171923351, 171923393]]
Promoter
Chrom Start End Description
chr2 171911636 171911640 CAGE_peak_18_at_TLK1_5end
chr2 172016919 172016926 CAGE_peak_11_at_TLK1_5end
chr2 172016945 172016956 CAGE_peak_9_at_TLK1_5end
chr2 172016960 172016965 CAGE_peak_15_at_TLK1_5end
chr2 172017024 172017061 CAGE_peak_3_at_TLK1_5end
chr2 172017105 172017120 CAGE_peak_6_at_TLK1_5end
chr2 172017188 172017330 CAGE_peak_1_at_TLK1_5end
chr2 172017355 172017391 CAGE_peak_4_at_TLK1_5end
chr2 172017393 172017509 CAGE_peak_2_at_TLK1_5end
chr2 172017607 172017701 CAGE_peak_5_at_TLK1_5end
chr2 172087794 172087808 CAGE_peak_16_at_TLK1_5end
chr2 172087828 172087839 CAGE_peak_20_at_TLK1_5end
chr2 172087984 172087988 CAGE_peak_28_at_TLK1_5end
chr2 172087996 172088005 CAGE_peak_25_at_TLK1_5end
chr2 172088016 172088034 CAGE_peak_21_at_TLK1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I171271 171271511 171272716 1.03 [{'connected_gene': 'TLK1', 'score': 12.1}, {'connected_gene': 'METTL8', 'score': 6.93}, {'connected_gene': 'METAP1D', 'score': 4.13}, {'connected_gene': 'GC02M171274', 'score': 0.77}, {'connected_gene': 'LOC105373737', 'score': 0.31}]
chr2 GH02I171158 171158132 171162490 2.25 [{'connected_gene': 'TLK1', 'score': 550.19}, {'connected_gene': 'GORASP2', 'score': 15.24}, {'connected_gene': 'DCAF17', 'score': 13.59}, {'connected_gene': 'HAT1', 'score': 11.7}, {'connected_gene': 'METAP1D', 'score': 10.24}, {'connected_gene': 'DAP3P2', 'score': 9.93}, {'connected_gene': 'GC02P171119', 'score': 0.26}, {'connected_gene': 'GC02P171227', 'score': 0.2}]
chr2 GH02I171185 171185613 171186674 0.51 [{'connected_gene': 'TLK1', 'score': 11.35}, {'connected_gene': 'GORASP2', 'score': 4.28}, {'connected_gene': 'GC02P171227', 'score': 0.26}, {'connected_gene': 'GC02P171119', 'score': 0.2}]
chr2 GH02I171260 171260051 171262513 1.23 [{'connected_gene': 'TLK1', 'score': 12.27}, {'connected_gene': 'GC02M171274', 'score': 0.39}, {'connected_gene': 'LOC105373737', 'score': 0.28}]
chr2 GH02I171248 171248351 171248600 1.01 [{'connected_gene': 'TLK1', 'score': 0.37}, {'connected_gene': 'GC02M171274', 'score': 0.31}, {'connected_gene': 'LOC105373737', 'score': 0.23}]
chr2 GH02I171009 171009238 171009590 0.48 [{'connected_gene': 'TLK1', 'score': 2.56}, {'connected_gene': 'GC02P171020', 'score': 0.39}, {'connected_gene': 'LOC105373736', 'score': 0.26}]
chr2 GH02I171066 171066963 171067022 0.5 [{'connected_gene': 'TLK1', 'score': 550.1}, {'connected_gene': 'GC02M171061', 'score': 0.77}, {'connected_gene': 'GC02P171020', 'score': 0.25}]
chr2 GH02I171210 171210339 171211600 0.83 [{'connected_gene': 'TLK1', 'score': 12.04}, {'connected_gene': 'GC02P171227', 'score': 0.37}, {'connected_gene': 'GC02P171119', 'score': 0.16}]
chr2 GH02I171231 171231283 171231342 0.5 [{'connected_gene': 'TLK1', 'score': 550.77}, {'connected_gene': 'GC02P171227', 'score': 0.77}]
chr2 GH02I171086 171086273 171088026 1.09 [{'connected_gene': 'HAT1', 'score': 12.62}, {'connected_gene': 'GORASP2', 'score': 4.58}, {'connected_gene': 'GC02M171061', 'score': 0.37}, {'connected_gene': 'GC02P171119', 'score': 0.29}, {'connected_gene': 'TLK1', 'score': 0.11}]
chr2 GH02I171430 171430548 171435764 2.35 [{'connected_gene': 'DCAF17', 'score': 577.18}, {'connected_gene': 'METTL8', 'score': 569.3}, {'connected_gene': 'DAP3P2', 'score': 33.87}, {'connected_gene': 'GORASP2', 'score': 20.84}, {'connected_gene': 'RPS15P4', 'score': 10.42}, {'connected_gene': 'CYBRD1', 'score': 7.54}, {'connected_gene': 'TLK1', 'score': 1.93}, {'connected_gene': 'GC02M171404', 'score': 0.31}]
chr2 GH02I171244 171244099 171246180 1.45 [{'connected_gene': 'DCAF17', 'score': 17.03}, {'connected_gene': 'GORASP2', 'score': 12.38}, {'connected_gene': 'DAP3P2', 'score': 11.99}, {'connected_gene': 'METAP1D', 'score': 10.11}, {'connected_gene': 'METTL8', 'score': 5.22}, {'connected_gene': 'TLK1', 'score': 0.39}, {'connected_gene': 'GC02M171274', 'score': 0.31}, {'connected_gene': 'LOC105373737', 'score': 0.22}]
chr2 GH02I171344 171344763 171344884 0.34 [{'connected_gene': 'GORASP2', 'score': 16.61}, {'connected_gene': 'TLK1', 'score': 12.19}, {'connected_gene': 'GC02M171300', 'score': 0.44}, {'connected_gene': 'GC02M171375', 'score': 0.29}, {'connected_gene': 'METTL8', 'score': 0.17}]
chr2 GH02I171146 171146002 171147599 0.66 [{'connected_gene': 'GORASP2', 'score': 5.66}, {'connected_gene': 'GC02P171119', 'score': 0.31}, {'connected_gene': 'GC02P171227', 'score': 0.18}, {'connected_gene': 'TLK1', 'score': 0.18}]
chr2 GH02I171136 171136201 171137800 0.99 [{'connected_gene': 'GORASP2', 'score': 5.54}, {'connected_gene': 'GC02P171119', 'score': 0.37}, {'connected_gene': 'GC02P171227', 'score': 0.16}, {'connected_gene': 'TLK1', 'score': 0.16}]
chr2 GH02I170927 170927616 170931412 2.58 [{'connected_gene': 'GORASP2', 'score': 557.26}, {'connected_gene': 'GC02M170927', 'score': 550.77}, {'connected_gene': 'DAP3P2', 'score': 37.58}, {'connected_gene': 'RPS15P4', 'score': 20.44}, {'connected_gene': 'DCAF17', 'score': 10.37}, {'connected_gene': 'TLK1', 'score': 3.17}, {'connected_gene': 'GC02P170969', 'score': 0.28}]
chr2 GH02I171233 171233882 171236510 0.49 [{'connected_gene': 'GAD1', 'score': 4.35}, {'connected_gene': 'TLK1', 'score': 0.77}, {'connected_gene': 'GC02P171227', 'score': 0.44}, {'connected_gene': 'GC02M171274', 'score': 0.28}]
chr2 GH02I171686 171686851 171689362 2.08 [{'connected_gene': 'DYNC1I2', 'score': 550.77}, {'connected_gene': 'DAP3P2', 'score': 25.45}, {'connected_gene': 'RPS15P4', 'score': 10.33}, {'connected_gene': 'DCAF17', 'score': 10.03}, {'connected_gene': 'GORASP2', 'score': 9.9}, {'connected_gene': 'TLK1', 'score': 9.84}, {'connected_gene': 'HAT1', 'score': 5.41}, {'connected_gene': 'GC02P171811', 'score': 0.13}]
chr2 GH02I171213 171212111 171212260 0.6 [{'connected_gene': 'GC02P171227', 'score': 0.37}, {'connected_gene': 'TLK1', 'score': 0.37}, {'connected_gene': 'GC02P171119', 'score': 0.16}]
chr2 GH02I171212 171212451 171212600 0.59 [{'connected_gene': 'GC02P171227', 'score': 0.37}, {'connected_gene': 'TLK1', 'score': 0.37}, {'connected_gene': 'GC02P171119', 'score': 0.16}]
chr2 GH02I171164 171164285 171164521 0.2 [{'connected_gene': 'GC02P171119', 'score': 0.25}, {'connected_gene': 'GC02P171227', 'score': 0.21}, {'connected_gene': 'TLK1', 'score': 0.2}]
chr2 GH02I171165 171165847 171167697 1.02 [{'connected_gene': 'GC02P171119', 'score': 0.25}, {'connected_gene': 'GC02P171227', 'score': 0.21}, {'connected_gene': 'TLK1', 'score': 0.21}]
chr2 GH02I171173 171173086 171173438 0.25 [{'connected_gene': 'GC02P171119', 'score': 0.23}, {'connected_gene': 'GC02P171227', 'score': 0.23}, {'connected_gene': 'TLK1', 'score': 0.22}]
chr2 GH02I171150 171150511 171150660 0.69 [{'connected_gene': 'GC02P171119', 'score': 0.29}, {'connected_gene': 'GC02P171227', 'score': 0.18}, {'connected_gene': 'TLK1', 'score': 0.18}]
chr2 GH02I171162 171162571 171162720 0.46 [{'connected_gene': 'GC02P171119', 'score': 0.26}, {'connected_gene': 'GC02P171227', 'score': 0.2}, {'connected_gene': 'TLK1', 'score': 0.2}]
chr2 GH02I171042 171042302 171043908 0.2 [{'connected_gene': 'GC02P171020', 'score': 0.34}, {'connected_gene': 'GC02M171061', 'score': 0.31}, {'connected_gene': 'TLK1', 'score': 0.09}]
chr2 GH02I171224 171224771 171225899 0.89 [{'connected_gene': 'GC02P171227', 'score': 0.77}, {'connected_gene': 'TLK1', 'score': 0.44}, {'connected_gene': 'GC02P171119', 'score': 0.14}]
chr2 GH02I171217 171217411 171217580 0.38 [{'connected_gene': 'GC02P171227', 'score': 0.39}, {'connected_gene': 'TLK1', 'score': 0.39}, {'connected_gene': 'GC02P171119', 'score': 0.15}]
chr2 GH02I171163 171163266 171163724 0.64 [{'connected_gene': 'GC02P171119', 'score': 0.26}, {'connected_gene': 'GC02P171227', 'score': 0.21}, {'connected_gene': 'TLK1', 'score': 0.2}]
chr2 GH02I171139 171139951 171140100 0.62 [{'connected_gene': 'GC02P171119', 'score': 0.34}, {'connected_gene': 'GC02P171227', 'score': 0.17}, {'connected_gene': 'TLK1', 'score': 0.16}]
chr2 GH02I171153 171153887 171154681 1 [{'connected_gene': 'GC02P171119', 'score': 0.28}, {'connected_gene': 'GC02P171227', 'score': 0.19}, {'connected_gene': 'TLK1', 'score': 0.18}]
chr2 GH02I171227 171227237 171228046 0.66 [{'connected_gene': 'GC02P171227', 'score': 550.77}, {'connected_gene': 'METTL8', 'score': 5.73}, {'connected_gene': 'TLK1', 'score': 0.77}, {'connected_gene': 'GC02P171119', 'score': 0.14}]
chr2 GH02I171020 171020933 171022353 0.7 [{'connected_gene': 'GC02P171020', 'score': 550.77}, {'connected_gene': 'GORASP2', 'score': 4.68}, {'connected_gene': 'GC02M171061', 'score': 0.25}, {'connected_gene': 'TLK1', 'score': 0.08}]

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