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
ENST00000394980 [[90800682, 90800753], [90815874, 90816745], [90830426, 90830546], [90833094, 90833201], [90844318, 90844423], [90848945, 90849119], [90855960, 90857949], [90872755, 90872902], [90874147, 90875780]] [[90816122, 90816745], [90830426, 90830546], [90833094, 90833201], [90844318, 90844423], [90848945, 90849119], [90855960, 90857949], [90872755, 90872902], [90874147, 90874569]]
ENST00000264790 [[90816051, 90816745], [90830426, 90830546], [90833094, 90833201], [90844318, 90844423], [90848945, 90849119], [90855960, 90857949], [90872755, 90872902], [90874147, 90875778]] [[90816122, 90816745], [90830426, 90830546], [90833094, 90833201], [90844318, 90844423], [90848945, 90849119], [90855960, 90857949], [90872755, 90872902], [90874147, 90874569]]
ENST00000394981 [[90816122, 90816332], [90816434, 90816745], [90830426, 90830546], [90833094, 90833201], [90844318, 90844423], [90848945, 90849119], [90872755, 90872902], [90874147, 90875778]] [[90816122, 90816332], [90816434, 90816745], [90830426, 90830546], [90833094, 90833201], [90844318, 90844423], [90848945, 90849119], [90872755, 90872902], [90874147, 90874569]]
ENST00000508372 [[90823133, 90823266], [90830426, 90830546], [90833094, 90833201], [90844318, 90844423], [90848945, 90849119], [90855960, 90857949], [90872755, 90872902], [90874147, 90874606]] [[90833125, 90833201], [90844318, 90844423], [90848945, 90849119], [90855960, 90857949], [90872755, 90872902], [90874147, 90874569]]
ENST00000506328 [[90872595, 90872902], [90874147, 90874606]] None
NM_007351 [[90816051, 90816745], [90830426, 90830546], [90833094, 90833201], [90844318, 90844423], [90848945, 90849119], [90855960, 90857949], [90872755, 90872902], [90874147, 90875780]] [[90816122, 90816745], [90830426, 90830546], [90833094, 90833201], [90844318, 90844423], [90848945, 90849119], [90855960, 90857949], [90872755, 90872902], [90874147, 90874569]]
Promoter
Chrom Start End Description
chr4 90800565 90800581 CAGE_peak_8_at_MMRN1_5end
chr4 90800656 90800673 CAGE_peak_4_at_MMRN1_5end
chr4 90800713 90800718 CAGE_peak_17_at_MMRN1_5end
chr4 90815973 90815980 CAGE_peak_11_at_MMRN1_5end
chr4 90815997 90816012 CAGE_peak_1_at_MMRN1_5end
chr4 90816021 90816032 CAGE_peak_3_at_MMRN1_5end
chr4 90816033 90816048 CAGE_peak_2_at_MMRN1_5end
chr4 90816418 90816427 CAGE_peak_10_at_MMRN1_5end
chr4 90816452 90816465 CAGE_peak_5_at_MMRN1_5end
chr4 90816484 90816496 CAGE_peak_6_at_MMRN1_5end
chr4 90816511 90816518 CAGE_peak_12_at_MMRN1_5end
chr4 90816544 90816555 CAGE_peak_9_at_MMRN1_5end
chr4 90816565 90816572 CAGE_peak_13_at_MMRN1_5end
chr4 90823130 90823153 CAGE_peak_7_at_MMRN1_5end
chr4 90823170 90823180 CAGE_peak_15_at_MMRN1_5end
chr4 90823194 90823199 CAGE_peak_18_at_MMRN1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I089994 89994128 89999902 1.05 [{'connected_gene': 'CCSER1', 'score': 9.62}, {'connected_gene': 'SNCA', 'score': 4.32}, {'connected_gene': 'LOC105377331', 'score': 0.18}, {'connected_gene': 'MMRN1', 'score': 0.13}]
chr4 GH04I089929 89929361 89930358 0.85 [{'connected_gene': 'CCSER1', 'score': 9.86}, {'connected_gene': 'MMRN1', 'score': 0.23}, {'connected_gene': 'LOC105377331', 'score': 0.11}]
chr4 GH04I090027 90027650 90027799 0.62 [{'connected_gene': 'CCSER1', 'score': 10.93}, {'connected_gene': 'LOC105377331', 'score': 0.25}, {'connected_gene': 'MMRN1', 'score': 0.11}]
chr4 GH04I090071 90071601 90072400 0.38 [{'connected_gene': 'CCSER1', 'score': 11.54}, {'connected_gene': 'LOC105377331', 'score': 0.77}, {'connected_gene': 'MMRN1', 'score': 0.08}]
chr4 GH04I089571 89571257 89576811 0.62 [{'connected_gene': 'CCSER1', 'score': 9.21}, {'connected_gene': 'LOC105377329', 'score': 7.32}, {'connected_gene': 'MMRN1', 'score': 4.98}, {'connected_gene': 'GC04M089729', 'score': 0.1}]
chr4 GH04I089752 89752568 89754969 1.06 [{'connected_gene': 'MMRN1', 'score': 12.61}, {'connected_gene': 'SNCA', 'score': 4.59}, {'connected_gene': 'ENSG00000276542', 'score': 0.44}, {'connected_gene': 'ENSG00000277695', 'score': 0.44}, {'connected_gene': 'SNCA-AS1', 'score': 0.18}]
chr4 GH04I089799 89799257 89801382 0.43 [{'connected_gene': 'MMRN1', 'score': 8.2}, {'connected_gene': 'SNCA', 'score': 5.26}, {'connected_gene': 'SNCA-AS1', 'score': 0.28}, {'connected_gene': 'ENSG00000276542', 'score': 0.23}]
chr4 GH04I089894 89894151 89902026 1.89 [{'connected_gene': 'MMRN1', 'score': 574.83}, {'connected_gene': 'SNCA', 'score': 10.62}, {'connected_gene': 'LOC105377331', 'score': 0.1}]
chr4 GH04I089738 89738010 89738199 0.52 [{'connected_gene': 'MMRN1', 'score': 12.59}, {'connected_gene': 'GC04M089729', 'score': 0.44}, {'connected_gene': 'ENSG00000274238', 'score': 0.44}, {'connected_gene': 'SNCA', 'score': 0.15}]
chr4 GH04I089888 89888759 89890288 1.19 [{'connected_gene': 'MMRN1', 'score': 14.74}, {'connected_gene': 'LOC105377331', 'score': 0.09}]
chr4 GH04I089660 89660595 89662190 0.59 [{'connected_gene': 'MMRN1', 'score': 9.05}, {'connected_gene': 'GC04M089729', 'score': 0.19}, {'connected_gene': 'LOC105377329', 'score': 0.09}]
chr4 GH04I089680 89680463 89683204 0.84 [{'connected_gene': 'MMRN1', 'score': 4.34}, {'connected_gene': 'GC04M089729', 'score': 0.23}, {'connected_gene': 'LOC105377329', 'score': 0.08}]
chr4 GH04I089559 89559517 89561221 0.2 [{'connected_gene': 'MMRN1', 'score': 4.59}, {'connected_gene': 'LOC105377329', 'score': 0.2}, {'connected_gene': 'GC04M089729', 'score': 0.09}]

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