Special

HsaINT0035249 @ hg38

Intron Retention

Gene
Description
cholinergic receptor nicotinic delta subunit [Source:HGNC Symbol;Acc:HGNC:1965]
Coordinates
chr2:232531542-232534135:+
Coord C1 exon
chr2:232531542-232531656
Coord A exon
chr2:232531657-232533930
Coord C2 exon
chr2:232533931-232534135
Length
2274 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
3' ss Seq
GCCCCTTGACATGGCCCCAGCTC
3' ss Score
3.25
Exon sequences
Seq C1 exon
GTTCCTGCTCTTCGGCATGGTGCTGGTCACCATGGTTGTGGTGATCTGTGTCATCGTGCTCAACATCCACTTCCGAACACCCAGCACCCATGTGCTGTCTGAGGGGGTCAAGAAG
Seq A exon
GTGAGTACTTGGCCCGGCGCAAAAGCTCACCACTGTAATCCTGGCATTTCAGGAGGCTGAGGCGGGAGAATCTCTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACATAGAGACACCCCTGTCTCTATAAACAATCAAAAAAATTAGCCAAGTGTGGTGGCGCATGCTTGTATTCCCAGCTACTCAAGAGGCTGAGGTGGATCACTTGAGCCTGGGAGGTCAAAGCTGCAGTGAGCTGTGATCGCGCCAGGGCACTCCAGCCTGGGCAACAGAGTGAGACCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGCACTCTCAATAGCCAAAAGCTGGAGACTAAGCCAGGTACAGTGGCTCACACCTGGAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGGATCCCTGGAACCCAGGAGTTGGAGGTTGCAATGTACTATGATCACAGTTGCACCCCAGTCTGGGCAACAGATCGAGACCCCATCTCTAAAAAAATAAAATAAAATGAAAAGCAGGGACCGGGTGTGGTAGCTCACACCTATAATCCCAGCACTTTGGGTGGCTGAGGCGGGTGGATCACCTGAGGTCAAGAGTTCGAGACCACCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATTCAAAAATTAGCCAGGCGTGATAGTGTGCGCTTGTAATCCCAGCTACTCGGGGGGCTGAGGTACGAGAATCGCTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCTCACCACTGCACTCCAGCCTGGGCGACAAGAGACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATCTGGAACTTGTCCAAAGGCCATCTGTAGAATGGGTAAAGACACTGGACATATACTCCCACGGGAGTGCCGCTCAGCCGTGCAGAAGCACCTGCGGCTGCTGCAGCCCTGCACGTGTGAACCTCCTGGCACAGTGTTCCGTGAAAGAAACCAGACGCAGCAGCACATGCTGCAGGCCTCACTTTGTAAGAAGTTCAAGAACAGGCCAAATCAGTGTTTGGTGATGGAAGTCAGAATGGTGGCTATCTCTGGGGCTGGGAGGGTACTGAGTGGGGGCAGGTGTGAGGGAGATTTTTGGGGATCATGTTCACTATCTCATCACTGGTGATTTACCCAGTGGAATGCATCTGTAAAAATTCATCTAGCTATATACTTAAGATGTGCTCATTCCACTGTATGCTGCAACTCAGAAGGAAGAAGGGGAGGACTGAGTGCAGGGTGCTCAGGAGGGGGCTGCCCTTGCCTCTCGGCTGCTGCAGGGCCGGCTGGCTGTTCTGGGACAGCTGAAGGCAGTTTAGCAACTCTTTTTTTTCTTTTTTGAGATGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTTCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTTTCATGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGCGATGGGTTTCACCACGTTGGCCATGCTGGTCTCGAACTCCTGACCTCAAGCGATCCACCTGCCTCGGCTTCCCAAAGAGCTGGGACTATAGGCGTGAGCCACTGTGCCCGGCCTTAGCAACTCTTTTTGTCTTTCAGCATTTGATGGGGGAGACTCTAGCATTTGGAGCATTTACCTTAGTTTTTGGTCTTTAATTAATCATTTTTAGTGAATGGGTTCTGCTCCGCACCATGGGTGATGTGGGAGAGCTGGAAGCAACCTGCATGTGCATCAGTAGGAGATCGGGGAATCAATGACAGAGTCAGACGGGGGAGCACTTTGTGGCAGCCAGGAATGAAGTCACAGATGTTAGGATGTGTAAAGGTCACCCCATGCTTGTAAAATGGCCTTTTTGGCCAGACACGGTGCCTCGCCCGTAATCCCAGCACTTTGGGAGGCCAAGTCAGGCAGATCACGAGGTCAGGAGAGCAAGACCATCCTGGCCAAAATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCGTGCCTGTAGTCCCAACTACTTGGGAGACTGAGGCAAGAAATCACTTGAACCCGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAATGAGACTCCGTCTCAAAAACAAAGAACAAAAAACAACGCCTTTCTTGTGGCCCCTTGACATGGCCCCAG
Seq C2 exon
CTCTTCCTGGAGACCCTGCCGGAGCTCCTGCACATGTCCCGCCCAGCAGAGGATGGACCCAGCCCTGGGGCCCTGGTGCGGAGGAGCAGCTCCCTGGGATACATCTCCAAGGCCGAGGAGTACTTCCTGCTCAAGTCCCGCAGTGACCTCATGTTCGAGAAGCAGTCAGAGCGGCATGGGCTGGCCAGGCGCCTCACCACTGCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135902:ENST00000258385:9
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=0.203
Domain overlap (PFAM):

C1:
PF0293211=Neur_chan_memb=FE(16.0=100)
A:
NA
C2:
PF0293211=Neur_chan_memb=FE(28.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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