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
ENST00000530266 [[20385230, 20385295], [20385782, 20385978], [20388719, 20389171]] [[20385783, 20385978], [20388719, 20388926]]
ENST00000421577 [[20385268, 20385295], [20385782, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20404880]] [[20385783, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20404751]]
ENST00000443524 [[20385270, 20385344], [20385782, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20404914]] [[20385783, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20404751]]
ENST00000419348 [[20385288, 20385458], [20385782, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20405328]] [[20385357, 20385458], [20385782, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20404751]]
ENST00000451739 [[20385342, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20405329]] [[20385783, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20404751]]
ENST00000532505 [[20385399, 20385458], [20385782, 20385978], [20388719, 20389059]] [[20385783, 20385978], [20388719, 20388926]]
ENST00000532081 [[20385686, 20385978], [20388719, 20389201]] [[20385783, 20385978], [20388719, 20388926]]
ENST00000531058 [[20385725, 20385978], [20388719, 20388827], [20403723, 20403785], [20404525, 20405162]] [[20385783, 20385978], [20388719, 20388827], [20403723, 20403785], [20404525, 20404751]]
ENST00000533914 [[20397562, 20398263], [20403723, 20403785], [20404525, 20405324]] None
NM_006410 [[20385230, 20385295], [20385782, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20405329]] [[20385783, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20404751]]
NM_001098521 [[20385246, 20385344], [20385782, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20405329]] [[20385783, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20404751]]
NM_001098520 [[20385288, 20385458], [20385782, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20405329]] [[20385357, 20385458], [20385782, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20404751]]
NM_001098522 [[20385402, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20405329]] [[20385783, 20385978], [20388719, 20388827], [20398125, 20398263], [20403723, 20403785], [20404525, 20404751]]
NM_001098523 [[20385686, 20385978], [20388719, 20389201]] [[20385783, 20385978], [20388719, 20388926]]
Promoter
Chrom Start End Description
chr11 20385252 20385320 CAGE_peak_1_at_HTATIP2_5end
chr11 20385327 20385339 CAGE_peak_3_at_HTATIP2_5end
chr11 20385642 20385663 CAGE_peak_4_at_HTATIP2_5end
chr11 20385666 20385757 CAGE_peak_2_at_HTATIP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I019389 19389121 19391036 0.68 [{'connected_gene': 'NAV2-AS4', 'score': 10.37}, {'connected_gene': 'HTATIP2', 'score': 5.56}, {'connected_gene': 'NAV2-IT1', 'score': 0.44}, {'connected_gene': 'RNA5SP335', 'score': 0.39}, {'connected_gene': 'GC11M019401', 'score': 0.39}, {'connected_gene': 'NAV2', 'score': 0.26}]
chr11 GH11I020128 20128355 20128524 0.8 [{'connected_gene': 'DBX1', 'score': 10.48}, {'connected_gene': 'HTATIP2', 'score': 10.47}, {'connected_gene': 'ENSG00000279266', 'score': 0.77}, {'connected_gene': 'NAV2-AS1', 'score': 0.44}]
chr11 GH11I020366 20366246 20369782 1.13 [{'connected_gene': 'HTATIP2', 'score': 44.95}, {'connected_gene': 'SLC6A5', 'score': 9.17}, {'connected_gene': 'PRMT3', 'score': 0.37}]
chr11 GH11I020496 20496975 20497824 0.2 [{'connected_gene': 'HTATIP2', 'score': 16.52}, {'connected_gene': 'LOC105376584', 'score': 0.18}, {'connected_gene': 'PRMT3', 'score': 0.14}]
chr11 GH11I020275 20275706 20277674 0.83 [{'connected_gene': 'HTATIP2', 'score': 5.4}, {'connected_gene': 'GC11P020319', 'score': 0.26}, {'connected_gene': 'LOC105376583', 'score': 0.17}]
chr11 GH11I020473 20473989 20475485 0.72 [{'connected_gene': 'HTATIP2', 'score': 11.45}, {'connected_gene': 'PRMT3', 'score': 0.17}, {'connected_gene': 'LOC105376584', 'score': 0.15}]
chr11 GH11I020458 20458895 20460199 0.95 [{'connected_gene': 'HTATIP2', 'score': 21.31}, {'connected_gene': 'PRMT3', 'score': 0.19}, {'connected_gene': 'LOC105376584', 'score': 0.14}]
chr11 GH11I020362 20362695 20365897 2 [{'connected_gene': 'HTATIP2', 'score': 624.18}, {'connected_gene': 'PRMT3', 'score': 0.34}]
chr11 GH11I020001 20001950 20004146 1.27 [{'connected_gene': 'HTATIP2', 'score': 5.44}, {'connected_gene': 'GC11P020023', 'score': 0.37}, {'connected_gene': 'GC11P020022', 'score': 0.37}, {'connected_gene': 'NAV2-AS3', 'score': 0.34}, {'connected_gene': 'NAV2', 'score': 0.03}]
chr11 GH11I019999 19999749 20001461 1.26 [{'connected_gene': 'HTATIP2', 'score': 5.42}, {'connected_gene': 'NAV2-AS3', 'score': 0.37}, {'connected_gene': 'GC11P020023', 'score': 0.34}, {'connected_gene': 'GC11P020022', 'score': 0.34}, {'connected_gene': 'NAV2', 'score': 0.03}]
chr11 GH11I020342 20342444 20342924 0.63 [{'connected_gene': 'HTATIP2', 'score': 12.12}, {'connected_gene': 'GC11P020361', 'score': 0.37}, {'connected_gene': 'GC11P020319', 'score': 0.34}]
chr11 GH11I020355 20355155 20356372 0.74 [{'connected_gene': 'HTATIP2', 'score': 19.76}, {'connected_gene': 'GC11P020361', 'score': 0.44}, {'connected_gene': 'GC11P020319', 'score': 0.28}]
chr11 GH11I020386 20386392 20389652 2.08 [{'connected_gene': 'PRMT3', 'score': 557.24}, {'connected_gene': 'HTATIP2', 'score': 29.51}, {'connected_gene': 'LOC105376584', 'score': 0.09}]
chr11 GH11I019395 19395174 19395303 0.43 [{'connected_gene': 'NAV2-AS5', 'score': 10.96}, {'connected_gene': 'NAV2', 'score': 10.94}, {'connected_gene': 'NAV2-AS4', 'score': 9.86}, {'connected_gene': 'HTATIP2', 'score': 6.58}, {'connected_gene': 'RNA5SP335', 'score': 0.44}, {'connected_gene': 'GC11M019401', 'score': 0.44}, {'connected_gene': 'NAV2-IT1', 'score': 0.39}]
chr11 GH11I020129 20129178 20130333 0.2 [{'connected_gene': 'ENSG00000279266', 'score': 550.77}, {'connected_gene': 'DBX1', 'score': 10.48}, {'connected_gene': 'HTATIP2', 'score': 10.47}, {'connected_gene': 'NAV2-AS1', 'score': 0.44}]
chr11 GH11I020360 20360245 20361444 0.87 [{'connected_gene': 'GC11P020361', 'score': 550.77}, {'connected_gene': 'HTATIP2', 'score': 61.32}, {'connected_gene': 'GC11P020319', 'score': 0.26}]