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
ENST00000339137 [[88835179, 88836648], [88842769, 88842945], [88844452, 88844544], [88874464, 88874572]] [[88836602, 88836648], [88842769, 88842945], [88844452, 88844518]]
ENST00000376001 [[88842225, 88842311], [88842769, 88842945], [88844452, 88844544], [88874464, 88874519]] [[88842247, 88842311], [88842769, 88842945], [88844452, 88844518]]
ENST00000469914 [[88836384, 88836648], [88844452, 88844544]] None
NM_001276368 [[88835179, 88836648], [88842769, 88842945], [88844452, 88844544], [88851996, 88852075], [88870901, 88870948]] [[88836602, 88836648], [88842769, 88842945], [88844452, 88844518]]
NM_001276367 [[88835179, 88836648], [88842769, 88842945], [88844452, 88844544], [88851996, 88852075], [88874464, 88874572]] [[88836602, 88836648], [88842769, 88842945], [88844452, 88844518]]
NM_001276366 [[88835179, 88836648], [88842769, 88842945], [88844452, 88844544], [88874464, 88874572]] [[88836602, 88836648], [88842769, 88842945], [88844452, 88844518]]
Promoter
Chrom Start End Description
chr9 88874566 88874577 CAGE_peak_1_at_C9orf153_5end
chr9 88874591 88874598 CAGE_peak_2_at_C9orf153_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I086280 86280960 86283758 2.07 [{'connected_gene': 'ISCA1', 'score': 550.77}, {'connected_gene': 'C9orf153', 'score': 28.8}, {'connected_gene': 'GAS1RR', 'score': 11.28}, {'connected_gene': 'RN7SKP264', 'score': 11.23}, {'connected_gene': 'LOC389765', 'score': 10.09}, {'connected_gene': 'LOC100130049', 'score': 9.99}, {'connected_gene': 'GAS1', 'score': 9.83}, {'connected_gene': 'ZCCHC6', 'score': 6.06}]
chr9 GH09I086405 86405209 86408415 1.42 [{'connected_gene': 'ZCCHC6', 'score': 13.46}, {'connected_gene': 'GOLM1', 'score': 5.4}, {'connected_gene': 'C9orf153', 'score': 4.35}, {'connected_gene': 'GC09P086413', 'score': 0.44}, {'connected_gene': 'RPS6P13', 'score': 0.29}]
chr9 GH09I086337 86337066 86341078 0.95 [{'connected_gene': 'ZCCHC6', 'score': 7.58}, {'connected_gene': 'C9orf153', 'score': 5.36}, {'connected_gene': 'GC09M086340', 'score': 0.77}, {'connected_gene': 'ISCA1', 'score': 0.22}]
chr9 GH09I086284 86284553 86285855 0.66 [{'connected_gene': 'ZCCHC6', 'score': 6.13}, {'connected_gene': 'C9orf153', 'score': 4.66}, {'connected_gene': 'ISCA1', 'score': 0.77}, {'connected_gene': 'GC09M086340', 'score': 0.22}]
chr9 GH09I086349 86349966 86356197 2.06 [{'connected_gene': 'ZCCHC6', 'score': 556.89}, {'connected_gene': 'C9orf153', 'score': 15.15}, {'connected_gene': 'RN7SKP264', 'score': 10.05}, {'connected_gene': 'LOC389765', 'score': 9.85}, {'connected_gene': 'GC09M086340', 'score': 0.39}]
chr9 GH09I086062 86062505 86064183 0.84 [{'connected_gene': 'GOLM1', 'score': 16.21}, {'connected_gene': 'C9orf153', 'score': 9.62}, {'connected_gene': 'RN7SKP264', 'score': 9.62}, {'connected_gene': 'GC09M086071', 'score': 0.39}, {'connected_gene': 'PIR41548', 'score': 0.31}]
chr9 GH09I086287 86287001 86287441 0.98 [{'connected_gene': 'C9orf153', 'score': 19.67}, {'connected_gene': 'ISCA1', 'score': 0.77}, {'connected_gene': 'GC09M086340', 'score': 0.23}]
chr9 GH09I086322 86322676 86324675 0.46 [{'connected_gene': 'C9orf153', 'score': 19.89}, {'connected_gene': 'ZCCHC6', 'score': 6.19}, {'connected_gene': 'GC09M086340', 'score': 0.37}, {'connected_gene': 'ISCA1', 'score': 0.26}]
chr9 GH09I086320 86320920 86322224 0.38 [{'connected_gene': 'C9orf153', 'score': 19.57}, {'connected_gene': 'ZCCHC6', 'score': 7.31}, {'connected_gene': 'GC09M086340', 'score': 0.37}, {'connected_gene': 'ISCA1', 'score': 0.28}]
chr9 GH09I086359 86359001 86359901 0.56 [{'connected_gene': 'C9orf153', 'score': 5.24}, {'connected_gene': 'ZCCHC6', 'score': 2.72}, {'connected_gene': 'RPS6P13', 'score': 0.37}]
chr9 GH09I086348 86348115 86349235 1.13 [{'connected_gene': 'C9orf153', 'score': 13.61}, {'connected_gene': 'NAA35', 'score': 11.59}, {'connected_gene': 'GAS1RR', 'score': 10.17}, {'connected_gene': 'ZCCHC6', 'score': 0.44}, {'connected_gene': 'GC09M086340', 'score': 0.44}]
chr9 GH09I086256 86256025 86256154 0.24 [{'connected_gene': 'C9orf153', 'score': 71.52}, {'connected_gene': 'GOLM1', 'score': 10.3}, {'connected_gene': 'RN7SKP264', 'score': 0.77}, {'connected_gene': 'ENSG00000270688', 'score': 0.31}]
chr9 GH09I086368 86368643 86369815 0.94 [{'connected_gene': 'C9orf153', 'score': 13.08}, {'connected_gene': 'RPS6P13', 'score': 0.44}, {'connected_gene': 'ZCCHC6', 'score': 0.39}]
chr9 GH09I086259 86259647 86259706 0.5 [{'connected_gene': 'C9orf153', 'score': 550.77}, {'connected_gene': 'RN7SKP264', 'score': 550.77}, {'connected_gene': 'ISCA1', 'score': 0.34}]
chr9 GH09I086246 86246801 86247234 0.96 [{'connected_gene': 'C9orf153', 'score': 0.39}, {'connected_gene': 'RN7SKP264', 'score': 0.39}, {'connected_gene': 'ENSG00000270688', 'score': 0.37}, {'connected_gene': 'GC09P086188', 'score': 0.22}]
chr9 GH09I086181 86181226 86182416 0.59 [{'connected_gene': 'C9orf153', 'score': 10.58}, {'connected_gene': 'RN7SKP264', 'score': 10.58}, {'connected_gene': 'GC09P086188', 'score': 0.44}, {'connected_gene': 'GC09P086155', 'score': 0.31}]
chr9 GH09I086254 86254110 86254169 0.5 [{'connected_gene': 'C9orf153', 'score': 550.44}, {'connected_gene': 'RN7SKP264', 'score': 0.77}, {'connected_gene': 'ENSG00000270688', 'score': 0.31}]
chr9 GH09I086076 86076989 86078242 0.2 [{'connected_gene': 'PIR41563', 'score': 550.77}, {'connected_gene': 'GOLM1', 'score': 21.49}, {'connected_gene': 'C9orf153', 'score': 10.07}, {'connected_gene': 'RN7SKP264', 'score': 10.07}, {'connected_gene': 'GC09M086071', 'score': 0.77}]
chr9 GH09I086187 86187186 86187455 0.52 [{'connected_gene': 'GC09P086188', 'score': 550.77}, {'connected_gene': 'C9orf153', 'score': 10.59}, {'connected_gene': 'RN7SKP264', 'score': 10.59}, {'connected_gene': 'GC09P086155', 'score': 0.29}]