HsaINT0158351 @ hg38
Intron Retention
Gene
ENSG00000163554 | SPTA1
Description
spectrin alpha, erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11272]
Coordinates
chr1:158613721-158614306:-
Coord C1 exon
chr1:158614253-158614306
Coord A exon
chr1:158613868-158614252
Coord C2 exon
chr1:158613721-158613867
Length
385 bp
Sequences
Splice sites
5' ss Seq
TAAGTGAGT
5' ss Score
6.43
3' ss Seq
TTTCTTTTTTTATCCTTTAGACA
3' ss Score
9.85
Exon sequences
Seq C1 exon
GGACATCAAAGGTGTGAGTGAAGAGACTCTAAAGGAATTTAGCACAATCTATAA
Seq A exon
GTGAGTATAATTTCATAGTTAACTGCTTCTTTGTTTTTCAGATTATTCAGAATGAGTCTACAAATAATGTTTCTCTCACTCTGTGAGGCTTGGTGGAATCTTAAATGAAGATCTAGATATGCTCATTAGCTCCAGTCATGGCTTTCTGTGAGATTTTCAGACTTCAAAAAATACATTTCTTCATTCTCAATGTTTTATGCTTTTCTCTCTATCCATTAGGTTAAAAAAATGTACATGACACAGACAGGCTTTGTATTCAGTCCTCTGATAGTTTTGTGACAGGTCAATAAAGCTTCAGCTGACGCAATAAGACATATTCCTTTCTGTTCTCACTTGGTTTTTCTATTGAGCTTGATAAATTTTTTTTTCTTTTTTTATCCTTTAG
Seq C2 exon
ACACTTTGATGAGAATTTGACAGGGCGCCTGACTCACAAAGAGTTCCGGTCCTGCCTGAGAGGACTCAATTACTACTTGCCCATGGTGGAGGAGGATGAACATGAGCCCAAGTTTGAGAAGTTCCTGGATGCTGTGGATCCAGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163554:ENST00000368147:49
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=0.040
Domain overlap (PFAM):
C1:
PF134991=EF-hand_7=PU(14.9=57.9)
A:
NA
C2:
PF134991=EF-hand_7=FE(66.2=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:
GGACATCAAAGGTGTGAGTGA
R:
CTCCCTGGATCCACAGCATCC
Band lengths:
201-586
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains