HsaINT0003165 @ hg19
Intron Retention
Gene
ENSG00000072110 | ACTN1
Description
actinin, alpha 1 [Source:HGNC Symbol;Acc:163]
Coordinates
chr14:69345175-69346825:-
Coord C1 exon
chr14:69346679-69346825
Coord A exon
chr14:69345241-69346678
Coord C2 exon
chr14:69345175-69345240
Length
1438 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGA
5' ss Score
7.62
3' ss Seq
GGTACCACTGCCCCCCACAGAAG
3' ss Score
4.21
Exon sequences
Seq C1 exon
CACATCCGTGTGGGCTGGGAGCAGCTGCTCACCACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAGCCAGGAGCAGATGAATGAGTTCCGGGCCTCCTTCAACCACTTTGACCGG
Seq A exon
GTGAGAGCCCCATCCTGTGCTTTCTTAGTGCAGCCCCCAACCCCTGCCCCAGGGCCCTGGAGGGCACTTCCCCGGGACGTGGGCTGCCATGCAAGTGAGGAGGGAGAGAAAGGGGAAACTGCCGTCAGCCTGCCCTGACTCAATGCACCCTGCAAAACCAGCCTTGGAAAACCTGTGTTGGTGCCCCATAAGCTTCCCTGCTTTCCGGGAGAGAGTGTTCAGACTGTGGGTAGAAAGAGGACCTTTGACCCCTGATCCTTGCTCTCCTACCATGAGGAGTCACCCTCAGTGAAGGCTTGCTGCTCCCTGGCTGTGGAGACAGAGGAGCAGAAGAGACTCCTCCTGCCCTCGCTGGCCCCTACCCCTACCCCGACCTCCAGTGGCCTCTGGGACTCTGCTGGGGATGTCAGAGGCCTTGGTCCTGGGTTCCCATCCCAGCTCTGGGTCAGGCTGGGTTTTAGTGGGCTGCCCCTTCCCAGTGCCCTGGGGCTTGCGGGCGGTCCCAAGGCGTGGGAGCATGGGCTTGGGTGCTGCCCACCACCCCACCTGCTTCATGGCTCTCTAGGCACCTGGGGGGAAGCCCCTGGGGAAGCGGGGGGGCTGGGTCACTTCTGAGGGAGCTTCTCACCCTTGTGGCTCATCACACCCCACTGTGGTCCTGCTCCCTGGAGCAGGGCTGCGTGTGCTGGGGGGAGGGCACCCCCTGGAGCCTCGTTGGTGTGTCTAACCGTGTGCACTTTTATTTCCCCTCCTCCCCCGCCCCCCCACCCTCCCTCCGCATGCCTGTCCCTGTGTCTCCCCACACACGCCACCCTCCCCCGGGGCATGCCCCCCTCACGGCTCCACCTCCCTGACACCGCATGGCTCGCTGCCTGGCGCACCGCGGCCCCAGGATCACTCCGGCACACTGGGTCCCGAGGAGTTCAAAGCCTGCCTCATCAGCTTGGGTTATGATATTGGCAACGACCCCCAGGTACTCGCCTCCTGCATGGAGCACGCTCAGGGGTGGCGTCTGGGGCAAGAAATAATGCGTTTTTCCTTTTTCTCTTCTCTCTGTCTGGATCTCCTGTCCCCCTCCTGTGGGCCATGGGGCTCGTCCTCTCCTGCTGTCTCTGTCTGCCCCATCACTGGTCCACCCTCTGCCCTCTGCTGTCTTTCATGGCAACCTACTGGGTGCCCGCTGTCTTCCGTCCTCGCTGCTCTTCATCCCATGGGTGGATTTTTGCATCTCCCTGCTCTGTCTTCCTCCTGTCTTTGGACATTTCCACCGATGTGTGTTCGCATCTTCTCCTATGTTCCTTTACCTATCCTGACCCCCAAAACCATAAATCTCATCCCCGTTCTGGCCATCTGTTCCTGTCTTCCTGGCCCCGGGCCGGCCCTTCCTCTTCCTGCCTTCCCGACCCTCCTTGTGTCTTGGTACCACTGCCCCCCACAG
Seq C2 exon
AAGAAGACAGGCATGATGGACACGGATGATTTCCGCGCCTGCCTGATCTCCATGGGTTACAACATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110-ACTN1:NM_001130005:18
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.077 A=NA C2=0.170
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(31.3=42.9),PF088696=XisI=PD(42.9=73.5),PF0003627=EF-hand_1=PU(52.6=20.4)
A:
NA
C2:
PF138331=EF-hand_8=PU(37.7=90.9)
Main Inclusion Isoform:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATCCGTGTGGGCTGGGAG
R:
TGTAACCCATGGAGATCAGGCA
Band lengths:
206-1644
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
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)