Special

HsaINT1007695 @ hg38

Intron Retention

Gene
Description
cholinergic receptor nicotinic epsilon subunit [Source:HGNC Symbol;Acc:HGNC:1966]
Coordinates
chr17:4899468-4900907:-
Coord C1 exon
chr17:4900793-4900907
Coord A exon
chr17:4899583-4900792
Coord C2 exon
chr17:4899468-4899582
Length
1210 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAAG
5' ss Score
6.66
3' ss Seq
ATGCCTTCCGGGCTCCTCAGGTT
3' ss Score
7.6
Exon sequences
Seq C1 exon
CCGGCGGCCAGAAATGCACGGTCTCCATCAACGTCCTGCTCGCCCAGACCGTCTTCTTGTTCCTCATTGCCCAGAAAATCCCAGAGACTTCTCTGAGCGTGCCGCTCCTGGGCAG
Seq A exon
GTGAAGCCGGAGCCCCCGCGGGGGTGTGGCCAGTGTGAAGGGTGGGGGCGTGGCCAAAACCCAGAGACCCCGGGAAAAGCTCTGGCTGTCTCGCCCCGCCCTGGGCTTTATTCGGACGCTGGGTGGGGCTGGTACGGGGATGGAGTCCCTGGTCCGCCGTCCTCCTCACTGCTGCTGGACGTCACCTGGAGGTCTCCCGAGTAGCTCTCTTGGGGGACAGTCCGGCTCAGTGCCTCCCTAGCCCCGCCGCCTCTGGCCCCTAACTCACCCCGTGTCCTGAGCTCACCGGTTCTCCGGGGATTCCGAGGCCTAGCTGCTGTTGCGACTGTCGCAGGAATGAGGCAGACCCCTGCAGACCCCGTCCACACAGGCATAGCCATGCTCCCTGGACTAGGAGCCGGGCGCTGGCGCCCACCGCAGCCCCAGCTTGCCGAACCCCCTGCCCTGCGGCTTGGGCTACCCGGCTCAGCGCTGCACCCGGATCCCTGCCGTCTGGGGCTGGGCCCGCGCTGCCGTCTAGTCGCCGCGCCTCCTGCTGCAGCCACAGGGCTGAGATCTGCATTGGGGGCACAGGGGTTAGCGGGGAGGCAGAGGTCCTTGTTCCCGCTACCCGATCGCCGCGTATCCTAAGCCCCCCAGTACCCCACCTCTAACAAGGTGGTGCCGAAGCTCACGAGGCTGGCTGTGGCTTCTCTCAACACCAGCCCCAGGGTGGGCTTCGGGGCAGGCAGCATCCCCTGCATCTTCGGTTCGGGTGGCTCCAGGGACTTCAGCTCTCTGAACCTCTGCTCCAGATATTCATGGGCTGCGGCCACGGAGAGTTCCAGGGAAGACAGAAGCGGGGGCTGGAGGGCCACCTGGAGAAGGAGCAGAGCAGTAGAGTAGCAGGGCAGGGGTCACAGGGGCGAACAGGAGACCTACCCAGAAGGTCTCGAGGTGCAGCCCTTGGCGGGCGTAGCCTCACCTCGGTGGAGCTGTGGAAGTGGTAGATCCACATCAGGGTGTCCAGGGAGCTGGGGGTCCCCTTCATGGCCGCCACAAGTGGTAGGACAGGAGAAGGGCTGGGGGACGCGTCTGTCGTCGTGTAGGGGGCGCAGCTGGAGGGCGTAACCAGCCCGTACCAGGAGAAGCCGTGTTTGTGAGGTCAGCGCGCGGCGCCTTCGGTAGCTGGGAGGAGGAACGGTGATGTCATGCCTTCCGGGCTCCTCAG
Seq C2 exon
GTTCCTTATTTTCGTCATGGTGGTCGCCACGCTCATTGTCATGAATTGCGTCATCGTGCTCAACGTGTCCCAGCGGACGCCCACCACCCACGCCATGTCCCCGCGGCTGCGCCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108556:ENST00000293780:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0293211=Neur_chan_memb=FE(16.7=100)
A:
NA
C2:
PF0293211=Neur_chan_memb=FE(16.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGCGGCCAGAAATGCAC
R:
GGACATGGCGTGGGTGGT
Band lengths:
214-1424
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains