Special

HsaINT0152095 @ hg38

Intron Retention

Gene
ENSG00000130304 | SLC27A1
Description
solute carrier family 27 member 1 [Source:HGNC Symbol;Acc:HGNC:10995]
Coordinates
chr19:17486563-17487335:+
Coord C1 exon
chr19:17486563-17486957
Coord A exon
chr19:17486958-17487173
Coord C2 exon
chr19:17487174-17487335
Length
216 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGG
5' ss Score
8.48
3' ss Seq
CCATGTGTTGGGGACCACAGCGG
3' ss Score
1.77
Exon sequences
Seq C1 exon
CGGTCTCTCTGTGCTGATCCGCGTGCGCCTGGAGCTGCGGCGGCACCAGCGTGCCGGCCACACCATCCCGCGCATCTTTCAGGCGGTAGTGCAGCGACAGCCCGAGCGCCTGGCGCTGGTGGATGCCGGGACCGGCGAGTGCTGGACCTTTGCGCAGCTGGACGCCTACTCCAATGCGGTAGCCAACCTCTTCCGCCAGCTGGGCTTCGCGCCGGGCGACGTGGTGGCCATCTTCCTGGAGGGCCGGCCGGAGTTCGTGGGGCTGTGGCTGGGCCTGGCCAAGGCGGGCATGGAGGCCGCGCTGCTCAACGTGAACCTGCGGCGCGAGCCCCTGGCCTTCTGCCTGGGCACCTCGGGCGCTAAGGCCCTGATCTTTGGAGGAGAAATGGTGGCGG
Seq A exon
GTGAGGCCAGGCGTGGGCATCAGGTGGGCGGGGACCCAGGACTGGCCCCTGGGCGGGCGGGGAGATGCTGCGCCCCAGGCCTCGGAAGGCGGCCGCCCTGGACGTGGGCATGAGGTGCACGGTCTGGGTATGCCCCGGGCAGGGAGTTGGTGCATCCCAGGCCTCGGGAGGGGGCCTGTCCGGCGGTGACCATGACCCATGTGTTGGGGACCACAG
Seq C2 exon
CGGTGGCCGAAGTGAGCGGGCATCTGGGGAAAAGTTTGATCAAGTTCTGCTCTGGAGACTTGGGGCCCGAGGGCATCTTGCCGGACACCCACCTCCTGGACCCGCTGCTGAAGGAGGCCTCTACTGCCCCCTTGGCACAGATCCCCAGCAAGGGCATGGACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130304:ENST00000252595:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.011 A=NA C2=0.013
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=PU(24.4=79.7)
A:
NA
C2:
PF0050123=AMP-binding=FE(12.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACTCCAATGCGGTAGCCAAC
R:
CCCCAAGTCTCCAGAGCAGAA
Band lengths:
294-510
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