Special

HsaINT0035222 @ hg38

Intron Retention

Gene
ENSG00000170175 | CHRNB1
Description
cholinergic receptor nicotinic beta 1 subunit [Source:HGNC Symbol;Acc:HGNC:1961]
Coordinates
chr17:7454297-7455456:+
Coord C1 exon
chr17:7454297-7454520
Coord A exon
chr17:7454521-7455283
Coord C2 exon
chr17:7455284-7455456
Length
763 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
3' ss Seq
ACGCCTCTTCTACTCTGCAGATC
3' ss Score
9.22
Exon sequences
Seq C1 exon
GAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAG
Seq A exon
GTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAG
Seq C2 exon
ATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170175:ENST00000306071:8
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=0.223
Domain overlap (PFAM):

C1:
PF0293118=Neur_chan_LBD=PD(2.4=5.3),PF0293211=Neur_chan_memb=FE(57.4=100)
A:
NA
C2:
PF0293211=Neur_chan_memb=PD(41.1=89.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCTTACTGTGTTCCTGCTGC
R:
GAAAATCACTTGGCGGCTTCC
Band lengths:
342-1105
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development