Special

HsaINT0035195 @ hg38

Intron Retention

Gene
ENSG00000169684 | CHRNA5
Description
cholinergic receptor nicotinic alpha 5 subunit [Source:HGNC Symbol;Acc:HGNC:1959]
Coordinates
chr15:78588314-78590636:+
Coord C1 exon
chr15:78588314-78588423
Coord A exon
chr15:78588424-78589804
Coord C2 exon
chr15:78589805-78590636
Length
1381 bp
Sequences
Splice sites
5' ss Seq
TAAGTAAGT
5' ss Score
8.07
3' ss Seq
TTTATATGTGTGTATTTTAGTGC
3' ss Score
9.73
Exon sequences
Seq C1 exon
GAATGGATAGATGTAAAATTAAGATGGAACCCTGATGACTATGGTGGAATAAAAGTTATACGTGTTCCTTCAGACTCTGTCTGGACACCAGACATCGTTTTGTTTGATAA
Seq A exon
GTAAGTTATATTCTAAATATAGTTTTATATTTTCAAAAGAAAACATTTGTATTTCTATTAGGCACTAATAATTTTTCTCCCTTTTGAAATTGTTTAGGTATAAAAATCAAATGACATGACCGCATGTGCCTGGGTATGATTACATGTTTTATAGATGAGGAAACAGAGGCTTAGGGTGGTTGTTCTTTTCCAAGATCACAGAGCTAGCACATGGCAGAGTAGGGGGGTCACACCAAGGGGACTGATACCTCCATTTACTCTTTGTTTTACTAGACTACATATTTGGCAGACTTCTAGATTTTTTTGTATGTTTTTTACGTCGTTGAGGTCATATTTTATGTTGAATTGTGCATCCTTCTAGTTGTGTTTAAATACTGTATCGTCATTTTCCCACAATGAGGAATGCTGGGTTAATTATCAATTCATCTTTAGAGGCATCCTACCTAGGTGTGTTTTGAGGATTTTTTTTTTTTTAACTTAGGGGAGAGGAAAATTCTGGGTACCAGTTTTATTTTTTTCTAAGACCACTCCTGGGCAAATCTGGGAATTTGTGCTTATCTTAAAGCACTTTGTCTGATTCGAAAGAAGGCCATTTGGCATGAGGACAGAGCAACTGCTATGCAAAAATATCTTTAATCTTTTGACACTTTTTACCTCCATGCTTCTTAAGAAGTGAACAAAGCTTGTAAGGACACATGATGCAGCTTCCTGGAGCATCATTTTATTTTCAGTAATTGAAAACATTTTTATATTAAACATGGATATATTACAGAATAGTGTGCAAAAGCCACATGAATTTGAAGACAGCAACATTTTAAAGAAATCTTATGTTGGTGGTGTGCTTTCCTAGTATATGGATTCTATACTAGACTTTTCTCATATATGAATTCACTTGGTGGGAGAGCTTGAGAGGCATAGCTGCTTTTCAGGGTCATGCCCAGCTTGGTGTTCATGGTCTTTCCCCATCAAAGTAAAAAACGGCCAGTATTTGCGATGAAGGAAGAAGAGCACTGTGGAGGGAGTCTAGGAGTGTGGATTCAGGTTCTGGCTGTATGCGTGCCCATTGTGTCAATAGCCTGAGTCTATTCTGTGTGTAAGGTGAGGTCTTTTCAATCATTAGAATCTCAGGCTTCTGTGAAAATTTGTCAGTTCTGGAGTAGATGCAGAAGAAGGGGTTCAGTTCTAGTAGAGTTAGATATTTAAGGAAGATATTCCTGGAGCAGGGTCCCTATGTAGCACGTATATCTTATCTGAAGTATAGTAATTTAAAAATTATTTCATGCAATCAATGATAGGCCTGCTTTTATATTAGGCTTATATTAATACAATTCATGTGCATTGTTTAATTTCTGCATTGTTATTTTATATGTGTGTATTTTAG
Seq C2 exon
TGCAGATGGACGTTTTGAAGGGACCAGTACGAAAACAGTCATCAGGTACAATGGCACTGTCACCTGGACTCCACCGGCAAACTACAAAAGTTCCTGTACCATAGATGTCACGTTTTTCCCATTTGACCTTCAGAACTGTTCCATGAAATTTGGTTCTTGGACTTATGATGGATCACAGGTTGATATAATTCTAGAGGACCAAGATGTAGACAAGAGAGATTTTTTTGATAATGGAGAATGGGAGATTGTGAGTGCAACAGGGAGCAAAGGAAACAGAACCGACAGCTGTTGCTGGTATCCGTATGTCACTTACTCATTTGTAATCAAGCGCCTGCCTCTCTTTTATACCTTGTTCCTTATAATACCCTGTATTGGGCTCTCATTTTTAACTGTACTTGTCTTCTATCTTCCTTCAAATGAAGGTGAAAAGATTTGTCTCTGCACTTCAGTACTTGTGTCTTTGACTGTCTTCCTTCTGGTTATTGAAGAGATCATACCATCATCTTCAAAAGTCATACCTCTAATTGGAGAGTATCTGGTATTTACCATGATTTTTGTGACACTGTCAATTATGGTAACCGTCTTCGCTATCAACATTCATCATCGTTCTTCCTCAACACATAATGCCATGGCGCCTTTGGTCCGCAAGATATTTCTTCACACGCTTCCCAAACTGCTTTGCATGAGAAGTCATGTAGACAGGTACTTCACTCAGAAAGAGGAAACTGAGAGTGGTAGTGGACCAAAATCTTCTAGAAACACATTGGAAGCTGCGCTCGATTCTATTCGCTACATTACAAGACACATCATGAAGGAAAATGATGTCCGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169684:ENST00000299565:4
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=0.025
Domain overlap (PFAM):

C1:
PF0293118=Neur_chan_LBD=FE(17.6=100)
A:
NA
C2:
PF0293118=Neur_chan_LBD=PD(54.9=40.3),PF0293211=Neur_chan_memb=WD(100=46.0),PF0293211=Neur_chan_memb=PU(58.2=16.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGAACCCTGATGACTATGGTGG
R:
CTTTGCTCCCTGTTGCACTCA
Band lengths:
354-1735
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