HsaALTD1004023-2/3 @ hg38
Alternative 5'ss
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68877082-68878520:-
Coord C1 exon
chr14:68878469-68878520
Coord A exon
chr14:68878458-68878468
Coord C2 exon
chr14:68877082-68877240
Length
11 bp
Sequences
Splice sites
5' ss Seq
ATGGTAACG
5' ss Score
6.05
3' ss Seq
GGTTTGGCTGTTCCCTCCAGGGA
3' ss Score
7.11
Exon sequences
Seq C1 exon
AAGACAGGCATGATGGACACGGATGATTTCCGCGCCTGCCTGATCTCCATGG
Seq A exon
GTTACAACATG
Seq C2 exon
GGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCAGGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110-111-78,112-78,113-78-2/3
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact
Protein isoform when splice site is used (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.023 A=NA C2=0.003
Domain overlap (PFAM):
C1:
PF138331=EF-hand_8=PU(37.7=90.9)
A:
NA
C2:
PF134991=EF-hand_7=PD(33.3=52.8),PF087265=EFhand_Ca_insen=PU(26.9=34.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGACAGGCATGATGGACACG
R:
GTTGGGGTCCACAATGCTCAT
Band lengths:
97-108
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains