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
ENST00000370841 [[76190035, 76190502], [76194085, 76194173], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76229364]] [[76190472, 76190502], [76194085, 76194173], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228448]]
ENST00000525881 [[76190375, 76190502], [76198328, 76198426], [76198537, 76199226]] None
ENST00000526129 [[76190390, 76190502], [76194085, 76194173], [76198328, 76198426], [76198522, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227300]] [[76190472, 76190502], [76194085, 76194173], [76198328, 76198426], [76198522, 76198537]]
ENST00000526196 [[76190390, 76190502], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228639]] [[76190472, 76190502], [76198328, 76198426], [76198537, 76198553]]
ENST00000534146 [[76190393, 76190502], [76194085, 76194173], [76198328, 76198426], [76198537, 76198607], [76198735, 76199024]] None
ENST00000532509 [[76190393, 76190502], [76194085, 76194173], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215239]] [[76190472, 76190502], [76194085, 76194173], [76198537, 76198557]]
ENST00000370834 [[76190393, 76190502], [76194085, 76194173], [76198328, 76198426], [76198537, 76198607], [76198735, 76198834], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76229176]] [[76190472, 76190502], [76194085, 76194173], [76198328, 76198426], [76198537, 76198607], [76198735, 76198834], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228448]]
ENST00000473018 [[76190439, 76190502], [76194085, 76194173], [76198328, 76198426], [76198537, 76198867]] None
ENST00000541113 [[76190439, 76190502], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228691]] [[76190492, 76190502], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228448]]
ENST00000530953 [[76190445, 76190502], [76194085, 76194173], [76205664, 76205795], [76211490, 76211599], [76215103, 76215226]] [[76190472, 76190502], [76194085, 76194173], [76205664, 76205699]]
ENST00000534334 [[76190451, 76190502], [76194085, 76194173], [76198328, 76198426], [76198537, 76198607], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76220617, 76220774], [76226806, 76226933]] [[76190472, 76190502], [76194085, 76194173], [76198328, 76198426], [76198537, 76198607], [76200475, 76200504]]
ENST00000525808 [[76190451, 76190502], [76198328, 76198426], [76198537, 76198607], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228853]] [[76190472, 76190502], [76198328, 76198426], [76198537, 76198553]]
ENST00000543667 [[76190451, 76190502], [76198328, 76198426], [76198537, 76198607], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228853]] [[76205763, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228448]]
ENST00000420607 [[76190464, 76190502], [76194073, 76194173], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228494]] [[76190472, 76190502], [76194073, 76194173], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228448]]
ENST00000529059 [[76198200, 76198426], [76198537, 76198607], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228630]] None
ENST00000526930 [[76200315, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215203]] None
ENST00000532207 [[76211161, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76226893]] None
ENST00000528016 [[76215181, 76215244], [76216135, 76216231], [76234861, 76234927], [76251717, 76251959], [76253181, 76253260]] [[76215181, 76215244], [76216135, 76216231], [76234861, 76234906]]
ENST00000481374 [[76216135, 76216231], [76216454, 76216576], [76226806, 76227055], [76228977, 76229176]] None
NM_001286044 [[76190031, 76190502], [76198328, 76198426], [76198537, 76198607], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76229364]] [[76205763, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228448]]
NM_001286042 [[76190031, 76190502], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76229364]] [[76190492, 76190502], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228448]]
NM_000016 [[76190031, 76190502], [76194085, 76194173], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76229364]] [[76190472, 76190502], [76194085, 76194173], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228448]]
NM_001286043 [[76190031, 76190502], [76194085, 76194173], [76198328, 76198426], [76198537, 76198607], [76198735, 76198834], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76229364]] [[76190472, 76190502], [76194085, 76194173], [76198328, 76198426], [76198537, 76198607], [76198735, 76198834], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228448]]
NM_001127328 [[76190031, 76190502], [76194073, 76194173], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76229364]] [[76190472, 76190502], [76194073, 76194173], [76198328, 76198426], [76198537, 76198607], [76199212, 76199313], [76200475, 76200556], [76205664, 76205795], [76211490, 76211599], [76215103, 76215244], [76216135, 76216231], [76226806, 76227055], [76228376, 76228448]]
Promoter
Chrom Start End Description
chr1 76190262 76190277 CAGE_peak_4_at_ACADM_5end
chr1 76190280 76190291 CAGE_peak_5_at_ACADM_5end
chr1 76190357 76190457 CAGE_peak_1_at_ACADM_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I075784 75784084 75791804 2.35 [{'connected_gene': 'RABGGTB', 'score': 559.18}, {'connected_gene': 'SNORD45B', 'score': 550.77}, {'connected_gene': 'GC01P075797', 'score': 550.77}, {'connected_gene': 'GC01P075800', 'score': 550.77}, {'connected_gene': 'GC01P075799', 'score': 550.77}, {'connected_gene': 'SNORD45C', 'score': 550.77}, {'connected_gene': 'SNORD45A', 'score': 550.77}, {'connected_gene': 'MSH4', 'score': 22.49}, {'connected_gene': 'DLSTP1', 'score': 10.1}, {'connected_gene': 'ACADM', 'score': 7.46}]
chr1 GH01I075765 75765070 75766712 0.66 [{'connected_gene': 'MSH4', 'score': 11.63}, {'connected_gene': 'ACADM', 'score': 9.78}, {'connected_gene': 'RABGGTB', 'score': 7.22}, {'connected_gene': 'DLSTP1', 'score': 0.34}]
chr1 GH01I075722 75722101 75728122 2.29 [{'connected_gene': 'ACADM', 'score': 568.97}, {'connected_gene': 'SLC44A5', 'score': 550.77}, {'connected_gene': 'ENSG00000178193', 'score': 550.77}, {'connected_gene': 'RABGGTB', 'score': 18.63}, {'connected_gene': 'SNORD45C', 'score': 12.18}, {'connected_gene': 'SNORD45A', 'score': 12.18}, {'connected_gene': 'MSH4', 'score': 11.61}, {'connected_gene': 'PIR54256', 'score': 0.37}]
chr1 GH01I075731 75731428 75731559 0.22 [{'connected_gene': 'ACADM', 'score': 7.18}, {'connected_gene': 'PIR54256', 'score': 0.39}]
chr1 GH01I075671 75671945 75673743 0.9 [{'connected_gene': 'PIR63059', 'score': 550.77}, {'connected_gene': 'GC01P075675', 'score': 550.77}, {'connected_gene': 'ACADM', 'score': 17.7}, {'connected_gene': 'DLSTP1', 'score': 10.16}, {'connected_gene': 'MSH4', 'score': 8.4}, {'connected_gene': 'LOC100421536', 'score': 7.99}, {'connected_gene': 'SLC44A5', 'score': 0.23}]
chr1 GH01I076040 76040066 76041629 0.62 [{'connected_gene': 'ENSG00000230027', 'score': 550.77}, {'connected_gene': 'ST6GALNAC3', 'score': 24.87}, {'connected_gene': 'LOC101927342', 'score': 6.4}, {'connected_gene': 'ACADM', 'score': 5.25}, {'connected_gene': 'MSH4', 'score': 5.16}, {'connected_gene': 'LOC105378806', 'score': 0.28}]

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