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
ENST00000443613 [[14530618, 14535334], [14536350, 14536497], [14537924, 14538068], [14545073, 14545179], [14547122, 14547297], [14548308, 14548488], [14549068, 14549208], [14551327, 14551472], [14552672, 14552818], [14552920, 14552987], [14554284, 14554365], [14555172, 14555318], [14555799, 14555986], [14558571, 14558721], [14559279, 14559405], [14561613, 14561786], [14561896, 14562044], [14563148, 14563294], [14564506, 14564582], [14565118, 14565205], [14565899, 14566045], [14566943, 14567079], [14567357, 14567438], [14581775, 14581836]] None
ENST00000273083 [[14530618, 14535334], [14536350, 14536497], [14537924, 14538068], [14545073, 14545179], [14547122, 14547297], [14548308, 14548488], [14549068, 14549208], [14551327, 14551472], [14552672, 14552818], [14552920, 14552987], [14554284, 14554365], [14555172, 14555318], [14555799, 14555986], [14558571, 14558721], [14559279, 14559405], [14561617, 14561786], [14561896, 14562044], [14563148, 14563294], [14564506, 14564582], [14565118, 14565205], [14565899, 14566045], [14566943, 14567079], [14567357, 14567438], [14581775, 14581881]] None
ENST00000430219 [[14532677, 14535334], [14536350, 14536497], [14537924, 14538068], [14545073, 14545461], [14547122, 14547297], [14548308, 14548488], [14549068, 14549208], [14551327, 14551472], [14552672, 14552818], [14552920, 14552987], [14554284, 14554366]] None
ENST00000507975 [[14535172, 14535334], [14536350, 14536497], [14537924, 14538068], [14545073, 14545179], [14547122, 14547297], [14548308, 14548488], [14549068, 14549208], [14551327, 14551472], [14552672, 14552818], [14552920, 14552987], [14554284, 14554365], [14555172, 14555318], [14555799, 14555986], [14558571, 14558721], [14559279, 14559405], [14561613, 14561786], [14561896, 14562044], [14563148, 14563294], [14564506, 14564582], [14565118, 14565205], [14565899, 14566045], [14566943, 14567079], [14567357, 14567438], [14581775, 14581897], [14583379, 14583588]] None
ENST00000383795 [[14545412, 14545461], [14547122, 14547297], [14548308, 14548488], [14549068, 14549208], [14551327, 14551472], [14552672, 14552818], [14552920, 14552987], [14554284, 14554365], [14555172, 14555318], [14555799, 14555986], [14558571, 14558721], [14559279, 14559405], [14561613, 14561786], [14561896, 14562044], [14563148, 14563294], [14564506, 14564582], [14565118, 14565205], [14565899, 14566045], [14566943, 14567079], [14567357, 14567438], [14581775, 14581836]] None
ENST00000422481 [[14562198, 14566045], [14566943, 14567079], [14567357, 14567490]] None
ENST00000413414 [[14562198, 14565205], [14565899, 14566045], [14566943, 14567079], [14567357, 14567438], [14581775, 14581850]] None
NM_001080423 [[14530618, 14535334], [14536350, 14536497], [14537924, 14538068], [14545073, 14545179], [14547122, 14547297], [14548308, 14548488], [14549068, 14549208], [14551327, 14551472], [14552672, 14552818], [14552920, 14552987], [14554284, 14554365], [14555172, 14555318], [14555799, 14555986], [14558571, 14558721], [14559279, 14559405], [14561617, 14561627], [14561629, 14561786], [14561896, 14562044], [14563148, 14563294], [14564506, 14564582], [14565118, 14565205], [14565899, 14566045], [14566943, 14567079], [14567357, 14567438], [14581775, 14581850]] [[14535172, 14535334], [14536350, 14536497], [14537924, 14538068], [14545073, 14545179], [14547122, 14547297], [14548308, 14548488], [14549068, 14549208], [14551327, 14551472], [14552672, 14552818], [14552920, 14552987], [14554284, 14554365], [14555172, 14555318], [14555799, 14555986], [14558571, 14558721], [14559279, 14559405], [14561617, 14561627], [14561629, 14561786], [14561896, 14562044], [14563148, 14563294], [14564506, 14564582], [14565118, 14565205], [14565899, 14566045], [14566943, 14567079], [14567357, 14567438], [14581775, 14581815]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I014828 14828826 14828841 0.22 [{'connected_gene': 'C3orf20', 'score': 10.56}, {'connected_gene': 'GRIP2', 'score': 7.24}, {'connected_gene': 'PIR49239', 'score': 0.44}, {'connected_gene': 'FGD5', 'score': 0.37}, {'connected_gene': 'LOC105376963', 'score': 0.16}]
chr3 GH03I014634 14634834 14634983 0.31 [{'connected_gene': 'C3orf20', 'score': 10.81}, {'connected_gene': 'ENSG00000230172', 'score': 10.73}, {'connected_gene': 'PIR36019', 'score': 0.39}, {'connected_gene': 'LOC105376960', 'score': 0.29}, {'connected_gene': 'GRIP2', 'score': 0.29}]
chr3 GH03I014490 14490127 14490638 0.46 [{'connected_gene': 'GRIP2', 'score': 6.39}, {'connected_gene': 'TMEM43', 'score': 5.83}, {'connected_gene': 'GC03M014530', 'score': 0.26}, {'connected_gene': 'RNU6-905P', 'score': 0.26}, {'connected_gene': 'GC03P014432', 'score': 0.22}]
chr3 GH03I014521 14521063 14527116 1.12 [{'connected_gene': 'GRIP2', 'score': 24.99}, {'connected_gene': 'GC03M014530', 'score': 0.44}, {'connected_gene': 'RNU6-905P', 'score': 0.44}, {'connected_gene': 'GC03P014432', 'score': 0.16}]
chr3 GH03I014540 14540358 14540417 0.99 [{'connected_gene': 'GRIP2', 'score': 550.21}, {'connected_gene': 'GC03M014530', 'score': 0.44}, {'connected_gene': 'RNU6-905P', 'score': 0.44}, {'connected_gene': 'GC03P014564', 'score': 0.34}]
chr3 GH03I014508 14508788 14509680 0.95 [{'connected_gene': 'GRIP2', 'score': 26.66}, {'connected_gene': 'GC03M014530', 'score': 0.34}, {'connected_gene': 'RNU6-905P', 'score': 0.34}, {'connected_gene': 'GC03P014432', 'score': 0.18}]
chr3 GH03I014534 14534874 14535083 0.66 [{'connected_gene': 'GRIP2', 'score': 21.21}, {'connected_gene': 'GC03M014530', 'score': 0.77}, {'connected_gene': 'RNU6-905P', 'score': 0.77}, {'connected_gene': 'GC03P014564', 'score': 0.31}]
chr3 GH03I014627 14627194 14627383 0.57 [{'connected_gene': 'CCDC174', 'score': 11.42}, {'connected_gene': 'GRIP2', 'score': 0.34}, {'connected_gene': 'PIR36019', 'score': 0.34}, {'connected_gene': 'LOC105376960', 'score': 0.31}]
chr3 GH03I014494 14494350 14494590 0.31 [{'connected_gene': 'RNU6-905P', 'score': 11.58}, {'connected_gene': 'GC03M014530', 'score': 0.28}, {'connected_gene': 'GC03P014432', 'score': 0.21}, {'connected_gene': 'GRIP2', 'score': 0.14}]
chr3 GH03I014588 14588114 14588263 0.64 [{'connected_gene': 'LOC105376961', 'score': 0.44}, {'connected_gene': 'GRIP2', 'score': 0.39}, {'connected_gene': 'RHBDF1P1', 'score': 0.39}]
chr3 GH03I014601 14601934 14602063 0.56 [{'connected_gene': 'LOC105376960', 'score': 550.77}, {'connected_gene': 'GRIP2', 'score': 550.77}]
chr3 GH03I014245 14245996 14246239 0.34 [{'connected_gene': 'LINC01267', 'score': 11.14}, {'connected_gene': 'ENSG00000228242', 'score': 5.67}, {'connected_gene': 'VN1R20P', 'score': 4.46}, {'connected_gene': 'GRIP2', 'score': 3.1}, {'connected_gene': 'LOC105376958', 'score': 0.34}, {'connected_gene': 'ENSG00000255021', 'score': 0.22}]
chr3 GH03I014538 14538234 14538383 0.86 [{'connected_gene': 'VN1R20P', 'score': 10.43}, {'connected_gene': 'GC03M014530', 'score': 0.44}, {'connected_gene': 'RNU6-905P', 'score': 0.44}, {'connected_gene': 'GC03P014564', 'score': 0.31}, {'connected_gene': 'GRIP2', 'score': 0.21}]
chr3 GH03I014555 14555248 14556346 0.49 [{'connected_gene': 'GC03P014564', 'score': 0.44}, {'connected_gene': 'GC03M014530', 'score': 0.34}, {'connected_gene': 'RNU6-905P', 'score': 0.34}, {'connected_gene': 'GRIP2', 'score': 0.25}]
chr3 GH03I014529 14529596 14530869 0.31 [{'connected_gene': 'GC03M014530', 'score': 550.77}, {'connected_gene': 'RNU6-905P', 'score': 550.77}, {'connected_gene': 'GRIP2', 'score': 27.76}, {'connected_gene': 'GC03P014432', 'score': 0.15}]
chr3 GH03I014542 14542988 14544321 0.57 [{'connected_gene': 'GC03M014530', 'score': 0.39}, {'connected_gene': 'RNU6-905P', 'score': 0.39}, {'connected_gene': 'GC03P014564', 'score': 0.34}, {'connected_gene': 'GRIP2', 'score': 0.22}]
chr3 GH03I014531 14531995 14534019 0.89 [{'connected_gene': 'GC03M014530', 'score': 550.77}, {'connected_gene': 'RNU6-905P', 'score': 550.77}, {'connected_gene': 'GRIP2', 'score': 21.62}, {'connected_gene': 'GC03P014564', 'score': 0.29}]
chr3 GH03I014550 14550475 14551479 0.31 [{'connected_gene': 'GC03P014564', 'score': 0.39}, {'connected_gene': 'GC03M014530', 'score': 0.37}, {'connected_gene': 'RNU6-905P', 'score': 0.37}, {'connected_gene': 'GRIP2', 'score': 0.23}]
chr3 GH03I014489 14489298 14490010 0.31 [{'connected_gene': 'GC03M014530', 'score': 0.26}, {'connected_gene': 'RNU6-905P', 'score': 0.26}, {'connected_gene': 'GC03P014432', 'score': 0.22}, {'connected_gene': 'SLC6A6', 'score': 0.17}, {'connected_gene': 'GRIP2', 'score': 0.14}]
chr3 GH03I014635 14635054 14635203 0.49 [{'connected_gene': 'ENSG00000230172', 'score': 10.59}, {'connected_gene': 'PIR36019', 'score': 0.39}, {'connected_gene': 'LOC105376960', 'score': 0.29}, {'connected_gene': 'GRIP2', 'score': 0.29}]