Special

HsaINT0035169 @ hg19

Intron Retention

Gene
ENSG00000138435 | CHRNA1
Description
cholinergic receptor, nicotinic, alpha 1 (muscle) [Source:HGNC Symbol;Acc:1955]
Coordinates
chr2:175612323-175613547:-
Coord C1 exon
chr2:175613308-175613547
Coord A exon
chr2:175612984-175613307
Coord C2 exon
chr2:175612323-175612983
Length
324 bp
Sequences
Splice sites
5' ss Seq
AATGTAAGC
5' ss Score
6.12
3' ss Seq
AACATTTTCCTCTCTCCCAGGCG
3' ss Score
9.86
Exon sequences
Seq C1 exon
GTTTTTATCGACACTATCCCAAATATCATGTTTTTCTCCACAATGAAAAGACCATCCAGAGAAAAGCAAGACAAAAAGATTTTTACAGAAGACATTGATATCTCTGACATTTCTGGAAAGCCAGGGCCTCCACCCATGGGCTTCCACTCTCCCCTGATCAAACACCCCGAGGTGAAAAGTGCCATCGAGGGCATCAAGTACATCGCAGAGACCATGAAGTCAGACCAGGAGTCTAACAAT
Seq A exon
GTAAGCTTCGTGGCTTGAAATTCATGCCTCTGGGTTTAAATGGTCAAATGTATGAGCACAGGTGGTGAGTCTGACTTAACAAGTAGGTGGCATACAACAGGCAGCTACTGACCTAAGATGAACCCTGGTGACCGCCTCTAGACCACCTTAGTAAGTTATCACTTTGTAAATAATCTATTCAAAAAATAAAGACGATGCCAGCCAAGGGATGGGAGGACTTTGAGATCTACAAATTGAAGGGCCCATAGTTGATGCAAAGCACAAACGTTGTGAGTCCAGAAACCACCTTAGGGAGACTCTGTCTAACATTTTCCTCTCTCCCAG
Seq C2 exon
GCGGCGGCAGAGTGGAAGTACGTTGCAATGGTGATGGACCACATACTCCTCGGAGTCTTCATGCTTGTTTGCATCATCGGAACCCTAGCCGTGTTTGCAGGTCGACTCATTGAATTAAATCAGCAAGGATGAGCAGAAAATGAGCTGAGCTTAGCTCTGCCCTGGAACCTACCAGAGCAGAGAAGGGCAGGAGAGGAAGATTTGTCTACTTGCTCCACTCGCACTTATCAAACGTGTTATATTCCATACTTATTATTGATGATAAGATTTACCTTTATGTAAGTTTATGGCCTTGAAGTGTTTTCATATTGCTTCTCCCTTTAGTTCTGCTGTCTCCCTGAAGAGTGAACCCTCTTTAGTAAATGAAACTAATCACTAAAAAAAGTGTTCATTTCCAGTGTCTGGAAGAGTTTTTGCCAGGATAACCGAGGTTTTCTGTTGCATTGTCATTGCTGTTATATTTATATATTTACTTATTTTGTCTAACCACGAGACCACTAGGGAGTTGCTGATGTTCTAAATGAAGTGTATTCTTTGCTTAAGAGTCAGTTTTGTACCTACTAAGAAAACCCCATCTACCAGTCCTAAAGAGATAAGGCATTTGATTTGGAGAGAGAGGAAGCAGTAGAAATGAAATAAACTAAAATGCAAACTGCATCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138435-CHRNA1:NM_000079:8
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

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

C1:
PF0293211=Neur_chan_memb=PD(31.9=57.5),PF0293211=Neur_chan_memb=PU(56.0=52.5)
A:
NA
C2:
PF0293211=Neur_chan_memb=PD(3.0=6.8),PF0293211=Neur_chan_memb=PD(93.9=70.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCCATGGGCTTCCACTCTC
R:
ACGTTTGATAAGTGCGAGTGGA
Band lengths:
344-668
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