HsaINT0158348 @ hg38
Intron Retention
Gene
ENSG00000163554 | SPTA1
Description
spectrin alpha, erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11272]
Coordinates
chr1:158617537-158618056:-
Coord C1 exon
chr1:158618039-158618056
Coord A exon
chr1:158617589-158618038
Coord C2 exon
chr1:158617537-158617588
Length
450 bp
Sequences
Splice sites
5' ss Seq
TGGGTCAGT
5' ss Score
4.68
3' ss Seq
TTCCTTCGGTTCTTAACTAGATC
3' ss Score
7.28
Exon sequences
Seq C1 exon
GGCTTACTTTCTGGATGG
Seq A exon
GTCAGTATTTTATGTTATCATCATGTTTGCTTTATTATATTATTATGGAAGAATTCGTTAAGAAAGAGTTAGTGCTGAGACATTTTCATTCCATTGTAATCTGGTAGTATGTAAATAAAAATGTGGAGTGAGAAGGAAAAGCTCATTATATTTCATTCTGCCCTTATACTTCACTAGACGGAATCTTGCCTACATTGCTTAAGTGTGTATTTAAGAAGAATAATTAAGAGGGGTATGTGAAAGCCTTCTCCTAGTCAGAGAAGAACTAGGGAAAGTCTTCCCTTCTCATCAGTCTGGCAAGGTTGTGAAAATTTGGCTCTGTGAAATTTTGCTTCATGTAAGCCACATAACCTTGGAGAAGTTGAAACAGAGGAGCTTCGAGTTGGTATGCATGTATGAAATATTGACCTGTGATGTGATGCATAATGATTTCCTTCGGTTCTTAACTAG
Seq C2 exon
ATCATTGCTCAAAGAAACAGGAACTCTGGAATCTCAGCTGGAAGCAAATAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163554:ENST00000368147:46
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=0.056
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(5.9=100)
A:
NA
C2:
PF0043516=Spectrin=FE(16.7=100)
Main Inclusion Isoform:
NA
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:
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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains