Special

HsaINT0158348 @ hg19

Intron Retention

Gene
Description
spectrin, alpha, erythrocytic 1 (elliptocytosis 2) [Source:HGNC Symbol;Acc:11272]
Coordinates
chr1:158587327-158587846:-
Coord C1 exon
chr1:158587829-158587846
Coord A exon
chr1:158587379-158587828
Coord C2 exon
chr1:158587327-158587378
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-SPTA1:NM_003126:46
Average complexity
IR-S
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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