Special

HsaINT0003032 @ hg38

Intron Retention

Gene
Description
acyl-CoA synthetase medium-chain family member 5 [Source:HGNC Symbol;Acc:HGNC:26060]
Coordinates
chr16:20419228-20421401:+
Coord C1 exon
chr16:20419228-20419435
Coord A exon
chr16:20419436-20421257
Coord C2 exon
chr16:20421258-20421401
Length
1822 bp
Sequences
Splice sites
5' ss Seq
CCGGTGAAT
5' ss Score
4.89
3' ss Seq
AGTGTATTTACGTTTTACAGGGA
3' ss Score
6.03
Exon sequences
Seq C1 exon
GGACTGTGATGATTCCGGGTGTGACTCAGCTGACAGAGAAGGACCTCAAGTACCGGCTGCAGGCGTCCAGGGCCAAGTCCATTATCACCAGTGACTCCCTAGCTCCAAGGGTGGATGCCATCAGTGCCGAATGCCCCTCCCTCCAGACCAAGCTGCTGGTGTCAGACAGCAGTCGGCCAGGCTGGTTGAACTTCAGGGAACTCCTCCG
Seq A exon
GTGAATTGGGGCTCTCCAGAACAGCAGAAAAATGAAGTCATTTCCCCTTTAAGCAACAAAAGATGAAATGCATTGCTGATTCCACACATAGAGAGCGAATCAGAGAGGAGCACTCCCATTGGCAGCCAGGCTGACCTGAGCATAATCCTGGTCCCTACCTTAATGTTCAAGGTCCCTCATTCAGTCAGTGCTGGATTTGTCAGCAGCTTTTCTGTGCTTCATTTGCTTCTATAATGCGGTGGTAGTTATTAGAGCTACCATTCAGAGTACATGAAATAACCAATATGGTGCATTTAGCACATAGCAGGTGGTCAGTTAATAATAAACTAGTGGCCATGTATTGGGTACTTAGTGTATCGCTAGATACTGTGCTATGTAAGCCTTCACCTTCATTCATTCATGCAGCGAAGATTTAATGAACATCTATTTCACGACAAGCATTGTGTTTGGTGTTCAGAACACCATAATGGATCAAACATCACCTTATTTAATCCCTGAACAGGACATTGTGATGGGCCCTTTAACCCAGTTTTACAGATGAGGAAACTGAGACTTGGAAAACTAAAGTGACTTGCCCAAGGTGCTAAAAAGTAGTCAAGTCAGGAGTGGGCAGAGCCGAGAGCAGATGTGCCTTGGAGCAAGGGCCTGGTGGAAACCCATCTCAGAATTTGAGACTTTGTCCTGATTGGAAGCCAGAACCCAAAAGGAGCCTCTCAGGGGCCTGAACCATTGAGTTATGAATGCTCACCCCACAGACCAGCTGCATCAGATTCACCTGGCTGCTGTTTTGAATACAGATGACAAGGCCTCACATCTGACCTACTTAACCAGACACAGCTGAGCAAGAGCCCTGGGGATCTTTTTTAAAAAAATCAGCCCATAGGGCCAGGCGCCATGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCTGAGGCAGGCAGATCACCCGAGGTCGGGAGTTTGAGACCAGCCTGACCAGCATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCACGCCTATATTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCCCGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACACCATCTCAAAAACAAAACAAAAAAAAATCGGCTCATATGATTTTGAGAGCTGTCAGGTGGGCCTAGATCAGTGGTTCTCAATTTTGGCTGTTACTAGAATTACTGAGAAGCATTTAAGAAAACATTAAAGATTCTGATTTTATTTTGTTCAGGGTGGATACAGACAAGTTTCTTCCAAAAATTTACCAGGGGACTTCACAGTGCAGCCAGGGATGAGAGCCCGTGGATTAGCTGATCATCCAGATCACAGAACTTTGGGAATTACCTAGATCTCAAAACCCCATATTGGGGGAAACCTTTAGAAAAGAGTTCTAAATTATTAGAAATTGGGATGGGGGTGGAAGCTGTGCCTAAATGTGCAGAATTATAGACATGGACATGTGTGTGTTCTACCAGAAAGTCCTCATACCTTGGTAAGAAAGCATGGACTCTTTTGCGTGAATTATTTATCTATTTTGAGCCTCAGTTTCCTGGTCTGCAAAAGGGTTATAATGATAGTACCTACCCCATGAGGTGGTTGCAGATTACCCAAGCCAGAGCTTTCAGCACAGCACCTCACATGTGGTATTTATGAAACGGTAGTCATATTGTTGTTACACATATTATTGGTGCTACTAACTGTTTTTACCGTGGTAGTGCCACCTAGTGTATTTACGTTTTACAG
Seq C2 exon
GGAGGCTTCTACAGAGCACAACTGCATGAGGACAAAGAGTCGAGACCCGCTGGCCATCTACTTTACCAGCGGAACCACCGGGGCCCCCAAGATGGTCGAGCACTCCCAGAGCAGCTACGGACTGGGTTTTGTGGCCAGCGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183549:ENST00000331849:4
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=0.026
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=PD(47.1=93.0)
A:
NA
C2:
PF0050123=AMP-binding=FE(11.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGACTGTGATGATTCCGGGTG
R:
CCACAAAACCCAGTCCGTAGC
Band lengths:
342-2164
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development